Incidental Mutation 'R4724:Lepr'
| ID |
354661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lepr
|
| Ensembl Gene |
ENSMUSG00000057722 |
| Gene Name |
leptin receptor |
| Synonyms |
leptin receptor gene-related protein, obl, Obr, Leprb, obese-like, Modb1, LEPROT, OB-RGRP |
| MMRRC Submission |
041988-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4724 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101574601-101672549 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 101622562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 447
(W447*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037552]
[ENSMUST00000102777]
[ENSMUST00000106921]
|
| AlphaFold |
P48356 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037552
AA Change: W447*
|
| SMART Domains |
Protein: ENSMUSP00000037385
Gene: ENSMUSG00000057722
AA Change: W447*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
FN3
|
236 |
315 |
1.5e-5 |
SMART |
|
Pfam:Lep_receptor_Ig
|
328 |
418 |
6.3e-23 |
PFAM |
|
FN3
|
535 |
618 |
4.93e-1 |
SMART |
|
FN3
|
641 |
721 |
3.25e1 |
SMART |
|
FN3
|
736 |
818 |
2.35e0 |
SMART |
|
transmembrane domain
|
838 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1065 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102777
AA Change: W447*
|
| SMART Domains |
Protein: ENSMUSP00000099838
Gene: ENSMUSG00000057722
AA Change: W447*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
FN3
|
236 |
315 |
1.5e-5 |
SMART |
|
Pfam:Lep_receptor_Ig
|
329 |
420 |
2.6e-29 |
PFAM |
|
FN3
|
535 |
618 |
4.93e-1 |
SMART |
|
FN3
|
641 |
721 |
3.25e1 |
SMART |
|
FN3
|
736 |
818 |
2.35e0 |
SMART |
|
transmembrane domain
|
838 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106921
AA Change: W447*
|
| SMART Domains |
Protein: ENSMUSP00000102534
Gene: ENSMUSG00000057722
AA Change: W447*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
FN3
|
236 |
315 |
1.5e-5 |
SMART |
|
Pfam:Lep_receptor_Ig
|
329 |
420 |
2.6e-29 |
PFAM |
|
FN3
|
535 |
618 |
4.93e-1 |
SMART |
|
FN3
|
641 |
721 |
3.25e1 |
SMART |
|
FN3
|
736 |
818 |
2.35e0 |
SMART |
|
transmembrane domain
|
838 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128948
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
G |
3: 89,960,848 (GRCm39) |
Q34E |
probably damaging |
Het |
| 4933434E20Rik |
G |
T |
3: 89,960,890 (GRCm39) |
V48F |
probably damaging |
Het |
| 4933434E20Rik |
A |
T |
3: 89,960,849 (GRCm39) |
Q34L |
probably damaging |
Het |
| Abra |
T |
C |
15: 41,729,302 (GRCm39) |
D366G |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,760,447 (GRCm39) |
S68P |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,864,326 (GRCm39) |
R492S |
probably damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,393 (GRCm39) |
E69V |
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,455,505 (GRCm39) |
M378L |
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,588,850 (GRCm39) |
N101K |
possibly damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,646,475 (GRCm39) |
F449L |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,842,668 (GRCm39) |
S5R |
possibly damaging |
Het |
| Akap9 |
G |
A |
5: 4,105,339 (GRCm39) |
R2883Q |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,542,688 (GRCm39) |
I16N |
probably benign |
Het |
| Api5 |
A |
T |
2: 94,253,816 (GRCm39) |
F296I |
possibly damaging |
Het |
| Ceacam14 |
G |
T |
7: 17,547,975 (GRCm39) |
|
probably null |
Het |
| Cep295 |
C |
T |
9: 15,242,128 (GRCm39) |
G1768S |
probably damaging |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cp |
C |
A |
3: 20,026,811 (GRCm39) |
T413K |
probably benign |
Het |
| Ctdsp2 |
T |
G |
10: 126,828,938 (GRCm39) |
V104G |
probably damaging |
Het |
| Ctrc |
T |
A |
4: 141,573,607 (GRCm39) |
|
probably null |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dctn1 |
T |
A |
6: 83,166,920 (GRCm39) |
M257K |
possibly damaging |
Het |
| Depp1 |
T |
A |
6: 116,629,096 (GRCm39) |
C146* |
probably null |
Het |
| Dlgap5 |
C |
T |
14: 47,638,977 (GRCm39) |
|
probably null |
Het |
| Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
| Exoc8 |
A |
G |
8: 125,623,989 (GRCm39) |
V126A |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,660,785 (GRCm39) |
S267T |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,064,493 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,687,307 (GRCm39) |
|
probably null |
Het |
| Gadl1 |
A |
T |
9: 115,783,685 (GRCm39) |
T214S |
possibly damaging |
Het |
| Gem |
G |
T |
4: 11,706,074 (GRCm39) |
R54L |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,355,422 (GRCm39) |
V287A |
probably benign |
Het |
| Gm3642 |
G |
A |
14: 18,212,879 (GRCm39) |
T215I |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,874,588 (GRCm39) |
I732K |
probably benign |
Het |
| Gtpbp2 |
A |
T |
17: 46,478,147 (GRCm39) |
|
probably null |
Het |
| Heatr6 |
C |
T |
11: 83,670,374 (GRCm39) |
R976* |
probably null |
Het |
| Hipk2 |
T |
A |
6: 38,675,327 (GRCm39) |
T1084S |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,570,584 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
A |
4: 137,249,438 (GRCm39) |
M1328K |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,466 (GRCm39) |
V17A |
probably benign |
Het |
| Iqgap2 |
G |
T |
13: 95,772,005 (GRCm39) |
N1391K |
possibly damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,648 (GRCm39) |
L148Q |
possibly damaging |
Het |
| Kat6b |
G |
A |
14: 21,711,030 (GRCm39) |
R768K |
probably benign |
Het |
| Letmd1 |
A |
G |
15: 100,367,619 (GRCm39) |
Y59C |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,183 (GRCm39) |
K374* |
probably null |
Het |
| Loxl4 |
G |
T |
19: 42,596,785 (GRCm39) |
D62E |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,377,462 (GRCm39) |
D181G |
probably damaging |
Het |
| Lrrc71 |
A |
T |
3: 87,646,481 (GRCm39) |
F526L |
probably damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,620,003 (GRCm39) |
M711L |
probably damaging |
Het |
| Mcm7 |
A |
T |
5: 138,167,387 (GRCm39) |
D78E |
probably damaging |
Het |
| Mdh1 |
T |
C |
11: 21,512,957 (GRCm39) |
N136D |
probably damaging |
Het |
| Meltf |
T |
A |
16: 31,711,323 (GRCm39) |
N515K |
probably benign |
Het |
| Mis18bp1 |
T |
A |
12: 65,205,513 (GRCm39) |
T220S |
probably benign |
Het |
| Mtss1 |
C |
T |
15: 58,953,367 (GRCm39) |
V4M |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,980,185 (GRCm39) |
F84I |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,470,073 (GRCm39) |
V360A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,270,169 (GRCm39) |
I18F |
possibly damaging |
Het |
| Nkd2 |
C |
T |
13: 73,995,124 (GRCm39) |
V13M |
probably damaging |
Het |
| Nkx6-3 |
A |
G |
8: 23,646,285 (GRCm39) |
I152V |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,708,656 (GRCm39) |
R16* |
probably null |
Het |
| Or1e16 |
A |
T |
11: 73,285,981 (GRCm39) |
I289N |
probably damaging |
Het |
| Or51b4 |
A |
G |
7: 103,530,856 (GRCm39) |
V198A |
probably benign |
Het |
| Or5an1 |
T |
C |
19: 12,260,460 (GRCm39) |
L16P |
probably damaging |
Het |
| Or5p69 |
T |
A |
7: 107,967,205 (GRCm39) |
F169L |
probably benign |
Het |
| Or6d15 |
T |
C |
6: 116,559,898 (GRCm39) |
N3S |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,820,356 (GRCm39) |
H244R |
probably damaging |
Het |
| Ostf1 |
G |
A |
19: 18,571,231 (GRCm39) |
P62L |
probably damaging |
Het |
| Pcdha2 |
A |
T |
18: 37,073,568 (GRCm39) |
T400S |
possibly damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,094,549 (GRCm39) |
T353S |
possibly damaging |
Het |
| Pelo |
A |
G |
13: 115,225,271 (GRCm39) |
F318S |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,030,269 (GRCm39) |
V36A |
probably benign |
Het |
| Ppan |
G |
A |
9: 20,799,806 (GRCm39) |
R41H |
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,863,019 (GRCm39) |
R253* |
probably null |
Het |
| Prf1 |
T |
A |
10: 61,139,487 (GRCm39) |
W482R |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,187,453 (GRCm39) |
T1397A |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,802 (GRCm39) |
Y2598* |
probably null |
Het |
| Scaf11 |
G |
T |
15: 96,312,729 (GRCm39) |
D1437E |
probably benign |
Het |
| Sec23a |
C |
T |
12: 59,025,292 (GRCm39) |
G510R |
probably damaging |
Het |
| Sel1l2 |
A |
G |
2: 140,082,847 (GRCm39) |
M597T |
probably damaging |
Het |
| Slc11a2 |
A |
T |
15: 100,304,219 (GRCm39) |
S160T |
possibly damaging |
Het |
| Slc18a1 |
A |
T |
8: 69,526,301 (GRCm39) |
L129* |
probably null |
Het |
| Smg8 |
A |
C |
11: 86,977,047 (GRCm39) |
L178R |
probably benign |
Het |
| Sp4 |
T |
C |
12: 118,225,544 (GRCm39) |
T607A |
probably benign |
Het |
| Ssbp2 |
A |
G |
13: 91,836,933 (GRCm39) |
D266G |
possibly damaging |
Het |
| Sstr3 |
A |
T |
15: 78,423,897 (GRCm39) |
Y283* |
probably null |
Het |
| Stk32b |
C |
T |
5: 37,612,278 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
C |
4: 58,070,752 (GRCm39) |
T2345A |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,940 (GRCm39) |
S459P |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 89,998,000 (GRCm39) |
M1V |
probably null |
Het |
| Tas2r102 |
T |
A |
6: 132,739,520 (GRCm39) |
W143R |
probably damaging |
Het |
| Thy1 |
T |
C |
9: 43,958,645 (GRCm39) |
V129A |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,492 (GRCm39) |
I197N |
probably damaging |
Het |
| Tmem101 |
A |
G |
11: 102,044,269 (GRCm39) |
I206T |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,376,688 (GRCm39) |
S254P |
possibly damaging |
Het |
| Tmem198b |
T |
C |
10: 128,637,350 (GRCm39) |
Q263R |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,091,870 (GRCm39) |
D72G |
probably damaging |
Het |
| Vmn1r4 |
T |
A |
6: 56,934,349 (GRCm39) |
D284E |
probably benign |
Het |
| Vmn2r31 |
G |
A |
7: 7,387,757 (GRCm39) |
L605F |
possibly damaging |
Het |
| Zfand4 |
T |
C |
6: 116,250,780 (GRCm39) |
V70A |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,653,665 (GRCm39) |
E53G |
probably damaging |
Het |
| Zfp541 |
A |
T |
7: 15,815,612 (GRCm39) |
I805F |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,457 (GRCm39) |
H460R |
possibly damaging |
Het |
|
| Other mutations in Lepr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Lepr
|
APN |
4 |
101,672,232 (GRCm39) |
missense |
probably benign |
|
|
IGL01111:Lepr
|
APN |
4 |
101,671,852 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01324:Lepr
|
APN |
4 |
101,625,265 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01372:Lepr
|
APN |
4 |
101,592,774 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01626:Lepr
|
APN |
4 |
101,590,731 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01733:Lepr
|
APN |
4 |
101,622,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01815:Lepr
|
APN |
4 |
101,671,987 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01899:Lepr
|
APN |
4 |
101,637,184 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02138:Lepr
|
APN |
4 |
101,625,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02161:Lepr
|
APN |
4 |
101,602,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02653:Lepr
|
APN |
4 |
101,622,141 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02735:Lepr
|
APN |
4 |
101,639,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03035:Lepr
|
APN |
4 |
101,622,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Lepr
|
APN |
4 |
101,671,876 (GRCm39) |
nonsense |
probably null |
|
|
IGL03160:Lepr
|
APN |
4 |
101,622,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
aufsetzigen
|
UTSW |
4 |
101,609,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beastly
|
UTSW |
4 |
101,671,788 (GRCm39) |
missense |
probably benign |
|
|
business_class
|
UTSW |
4 |
101,622,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cherub
|
UTSW |
4 |
101,625,259 (GRCm39) |
missense |
probably benign |
0.25 |
|
clodhopper
|
UTSW |
4 |
101,622,487 (GRCm39) |
splice site |
probably null |
|
|
donner
|
UTSW |
4 |
101,672,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fluffy
|
UTSW |
4 |
101,649,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
giant
|
UTSW |
4 |
101,622,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
gordo
|
UTSW |
4 |
101,622,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Immunoglutton
|
UTSW |
4 |
101,622,498 (GRCm39) |
splice site |
probably benign |
|
|
Jumbo_shrimp
|
UTSW |
4 |
101,622,151 (GRCm39) |
nonsense |
probably null |
|
|
lowleaning
|
UTSW |
4 |
101,671,588 (GRCm39) |
splice site |
probably null |
|
|
odd
|
UTSW |
4 |
101,585,271 (GRCm39) |
splice site |
probably benign |
|
|
paleo
|
UTSW |
4 |
101,602,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0140_Lepr_245
|
UTSW |
4 |
101,625,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
well-upholstered
|
UTSW |
4 |
101,630,155 (GRCm39) |
synonymous |
probably benign |
|
|
worldly
|
UTSW |
4 |
101,625,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
PIT4651001:Lepr
|
UTSW |
4 |
101,649,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Lepr
|
UTSW |
4 |
101,637,180 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0140:Lepr
|
UTSW |
4 |
101,625,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Lepr
|
UTSW |
4 |
101,609,349 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0279:Lepr
|
UTSW |
4 |
101,607,541 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0487:Lepr
|
UTSW |
4 |
101,625,290 (GRCm39) |
nonsense |
probably null |
|
|
R0498:Lepr
|
UTSW |
4 |
101,602,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0506:Lepr
|
UTSW |
4 |
101,630,207 (GRCm39) |
splice site |
probably benign |
|
|
R0512:Lepr
|
UTSW |
4 |
101,671,901 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0512:Lepr
|
UTSW |
4 |
101,649,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Lepr
|
UTSW |
4 |
101,622,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1054:Lepr
|
UTSW |
4 |
101,639,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1109:Lepr
|
UTSW |
4 |
101,628,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Lepr
|
UTSW |
4 |
101,649,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Lepr
|
UTSW |
4 |
101,592,878 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1464:Lepr
|
UTSW |
4 |
101,592,878 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1519:Lepr
|
UTSW |
4 |
101,646,541 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1602:Lepr
|
UTSW |
4 |
101,602,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1830:Lepr
|
UTSW |
4 |
101,592,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Lepr
|
UTSW |
4 |
101,590,620 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1918:Lepr
|
UTSW |
4 |
101,630,033 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1928:Lepr
|
UTSW |
4 |
101,639,927 (GRCm39) |
splice site |
probably benign |
|
|
R2099:Lepr
|
UTSW |
4 |
101,630,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Lepr
|
UTSW |
4 |
101,630,178 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2175:Lepr
|
UTSW |
4 |
101,622,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2254:Lepr
|
UTSW |
4 |
101,672,309 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2396:Lepr
|
UTSW |
4 |
101,590,725 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2508:Lepr
|
UTSW |
4 |
101,648,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2571:Lepr
|
UTSW |
4 |
101,625,369 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3790:Lepr
|
UTSW |
4 |
101,648,111 (GRCm39) |
splice site |
probably benign |
|
|
R3882:Lepr
|
UTSW |
4 |
101,672,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Lepr
|
UTSW |
4 |
101,622,498 (GRCm39) |
splice site |
probably benign |
|
|
R4211:Lepr
|
UTSW |
4 |
101,590,611 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4343:Lepr
|
UTSW |
4 |
101,622,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4345:Lepr
|
UTSW |
4 |
101,622,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4544:Lepr
|
UTSW |
4 |
101,625,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4546:Lepr
|
UTSW |
4 |
101,671,838 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4797:Lepr
|
UTSW |
4 |
101,637,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4860:Lepr
|
UTSW |
4 |
101,646,534 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4860:Lepr
|
UTSW |
4 |
101,646,534 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4929:Lepr
|
UTSW |
4 |
101,672,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4939:Lepr
|
UTSW |
4 |
101,590,635 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5377:Lepr
|
UTSW |
4 |
101,672,216 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5520:Lepr
|
UTSW |
4 |
101,602,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5966:Lepr
|
UTSW |
4 |
101,649,324 (GRCm39) |
intron |
probably benign |
|
|
R6092:Lepr
|
UTSW |
4 |
101,649,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Lepr
|
UTSW |
4 |
101,622,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6168:Lepr
|
UTSW |
4 |
101,592,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6232:Lepr
|
UTSW |
4 |
101,671,588 (GRCm39) |
splice site |
probably null |
|
|
R6380:Lepr
|
UTSW |
4 |
101,622,151 (GRCm39) |
nonsense |
probably null |
|
|
R6427:Lepr
|
UTSW |
4 |
101,631,454 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6428:Lepr
|
UTSW |
4 |
101,637,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6641:Lepr
|
UTSW |
4 |
101,622,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6650:Lepr
|
UTSW |
4 |
101,672,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:Lepr
|
UTSW |
4 |
101,622,487 (GRCm39) |
splice site |
probably null |
|
|
R7023:Lepr
|
UTSW |
4 |
101,646,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Lepr
|
UTSW |
4 |
101,609,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7174:Lepr
|
UTSW |
4 |
101,607,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7179:Lepr
|
UTSW |
4 |
101,602,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7189:Lepr
|
UTSW |
4 |
101,671,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7426:Lepr
|
UTSW |
4 |
101,602,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7531:Lepr
|
UTSW |
4 |
101,609,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Lepr
|
UTSW |
4 |
101,609,270 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7804:Lepr
|
UTSW |
4 |
101,639,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Lepr
|
UTSW |
4 |
101,639,754 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8142:Lepr
|
UTSW |
4 |
101,622,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8227:Lepr
|
UTSW |
4 |
101,628,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8426:Lepr
|
UTSW |
4 |
101,671,841 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8447:Lepr
|
UTSW |
4 |
101,671,688 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8531:Lepr
|
UTSW |
4 |
101,622,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Lepr
|
UTSW |
4 |
101,649,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Lepr
|
UTSW |
4 |
101,649,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9096:Lepr
|
UTSW |
4 |
101,631,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9177:Lepr
|
UTSW |
4 |
101,602,798 (GRCm39) |
nonsense |
probably null |
|
|
R9241:Lepr
|
UTSW |
4 |
101,671,788 (GRCm39) |
missense |
probably benign |
|
|
R9604:Lepr
|
UTSW |
4 |
101,590,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9711:Lepr
|
UTSW |
4 |
101,592,851 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Lepr
|
UTSW |
4 |
101,590,524 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Lepr
|
UTSW |
4 |
101,602,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Lepr
|
UTSW |
4 |
101,592,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGACTGCGTTAGAGTCC -3'
(R):5'- CTTGCATGCCACTCAAAAGC -3'
Sequencing Primer
(F):5'- GCGTTAGAGTCCTACTAAAGATGCC -3'
(R):5'- GCCTTGGGTGTAAATTTTTCAAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation