Incidental Mutation 'R5157:Lsr'
ID |
396778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lsr
|
Ensembl Gene |
ENSMUSG00000001247 |
Gene Name |
lipolysis stimulated lipoprotein receptor |
Synonyms |
Lisch7, ILDR3 |
MMRRC Submission |
042739-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5157 (G1)
|
Quality Score |
219 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30657195-30672889 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30665465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 163
(Y163C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001279]
[ENSMUST00000098553]
[ENSMUST00000108116]
[ENSMUST00000147431]
[ENSMUST00000205961]
|
AlphaFold |
Q99KG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001279
AA Change: Y163C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000001279 Gene: ENSMUSG00000001247 AA Change: Y163C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
43 |
186 |
1.23e-3 |
SMART |
Pfam:LSR
|
206 |
253 |
9.6e-27 |
PFAM |
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
low complexity region
|
445 |
464 |
N/A |
INTRINSIC |
low complexity region
|
468 |
487 |
N/A |
INTRINSIC |
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
low complexity region
|
544 |
558 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098553
AA Change: Y163C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096153 Gene: ENSMUSG00000001247 AA Change: Y163C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
43 |
186 |
1.23e-3 |
SMART |
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
low complexity region
|
377 |
396 |
N/A |
INTRINSIC |
low complexity region
|
400 |
419 |
N/A |
INTRINSIC |
low complexity region
|
428 |
445 |
N/A |
INTRINSIC |
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108116
AA Change: Y163C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103751 Gene: ENSMUSG00000001247 AA Change: Y163C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
43 |
186 |
1.23e-3 |
SMART |
Pfam:LSR
|
187 |
235 |
2.3e-25 |
PFAM |
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
low complexity region
|
426 |
445 |
N/A |
INTRINSIC |
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147431
|
SMART Domains |
Protein: ENSMUSP00000123487 Gene: ENSMUSG00000001247
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
low complexity region
|
253 |
272 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181395
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205961
AA Change: Y163C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.9664 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,096 (GRCm39) |
R1266C |
probably damaging |
Het |
Adap2 |
T |
C |
11: 80,047,772 (GRCm39) |
F76S |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,274,710 (GRCm39) |
H747L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,109,222 (GRCm39) |
V670D |
probably damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,615 (GRCm39) |
D839G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,635,817 (GRCm39) |
|
probably null |
Het |
AY074887 |
T |
C |
9: 54,858,102 (GRCm39) |
|
probably benign |
Het |
Bicd1 |
C |
G |
6: 149,421,912 (GRCm39) |
Q878E |
probably benign |
Het |
Catspere1 |
A |
T |
1: 177,707,348 (GRCm39) |
|
noncoding transcript |
Het |
Cnmd |
T |
C |
14: 79,894,126 (GRCm39) |
Q87R |
probably benign |
Het |
Col24a1 |
G |
T |
3: 145,051,712 (GRCm39) |
G661* |
probably null |
Het |
Crtap |
G |
A |
9: 114,213,860 (GRCm39) |
L232F |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,675,190 (GRCm39) |
Q388R |
probably benign |
Het |
Ddb1 |
A |
T |
19: 10,599,728 (GRCm39) |
T646S |
probably benign |
Het |
Dnah6 |
G |
T |
6: 73,172,617 (GRCm39) |
S280R |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,325,332 (GRCm39) |
H545R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,261 (GRCm39) |
M207L |
probably benign |
Het |
Elmo2 |
T |
A |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,350,537 (GRCm39) |
A731T |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,755,378 (GRCm39) |
T426A |
possibly damaging |
Het |
Kcnf1 |
T |
C |
12: 17,224,742 (GRCm39) |
E493G |
probably benign |
Het |
Lmna |
A |
T |
3: 88,391,414 (GRCm39) |
D364E |
probably damaging |
Het |
Map3k20 |
A |
T |
2: 72,268,558 (GRCm39) |
T522S |
probably benign |
Het |
Mroh9 |
C |
A |
1: 162,871,690 (GRCm39) |
A598S |
probably damaging |
Het |
Msln |
T |
C |
17: 25,971,957 (GRCm39) |
M87V |
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,440 (GRCm39) |
K259E |
probably benign |
Het |
Or1e26 |
T |
C |
11: 73,480,549 (GRCm39) |
N5S |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,892 (GRCm39) |
Q17L |
probably benign |
Het |
Or5d16 |
T |
A |
2: 87,773,232 (GRCm39) |
M247L |
probably benign |
Het |
Pals1 |
T |
A |
12: 78,867,589 (GRCm39) |
M324K |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,322 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
G |
T |
19: 46,053,197 (GRCm39) |
|
probably benign |
Het |
Ptprm |
T |
A |
17: 67,264,092 (GRCm39) |
K385I |
probably benign |
Het |
Rfxap |
T |
A |
3: 54,711,938 (GRCm39) |
N215I |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,069,333 (GRCm39) |
Y114* |
probably null |
Het |
Smarcb1 |
G |
T |
10: 75,747,628 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,877 (GRCm39) |
R770* |
probably null |
Het |
Stard9 |
A |
T |
2: 120,528,342 (GRCm39) |
Y1533F |
probably benign |
Het |
Tbcd |
A |
T |
11: 121,500,853 (GRCm39) |
Y1142F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,893 (GRCm39) |
S2T |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Uba7 |
G |
A |
9: 107,857,246 (GRCm39) |
V703I |
probably benign |
Het |
Upb1 |
T |
C |
10: 75,248,638 (GRCm39) |
S53P |
possibly damaging |
Het |
Zfp672 |
A |
G |
11: 58,207,677 (GRCm39) |
S215P |
possibly damaging |
Het |
Zfp978 |
T |
A |
4: 147,475,437 (GRCm39) |
L328H |
probably damaging |
Het |
|
Other mutations in Lsr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Lsr
|
APN |
7 |
30,671,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01893:Lsr
|
APN |
7 |
30,661,657 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02557:Lsr
|
APN |
7 |
30,657,919 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02800:Lsr
|
APN |
7 |
30,657,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Lsr
|
APN |
7 |
30,658,706 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03166:Lsr
|
APN |
7 |
30,661,522 (GRCm39) |
critical splice donor site |
probably null |
|
R0349:Lsr
|
UTSW |
7 |
30,658,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Lsr
|
UTSW |
7 |
30,657,763 (GRCm39) |
missense |
probably benign |
0.01 |
R1226:Lsr
|
UTSW |
7 |
30,671,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1539:Lsr
|
UTSW |
7 |
30,671,517 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2281:Lsr
|
UTSW |
7 |
30,657,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4208:Lsr
|
UTSW |
7 |
30,672,519 (GRCm39) |
missense |
probably benign |
0.00 |
R4422:Lsr
|
UTSW |
7 |
30,665,422 (GRCm39) |
missense |
probably benign |
0.08 |
R4544:Lsr
|
UTSW |
7 |
30,671,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Lsr
|
UTSW |
7 |
30,665,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Lsr
|
UTSW |
7 |
30,657,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R4946:Lsr
|
UTSW |
7 |
30,657,634 (GRCm39) |
missense |
probably benign |
0.17 |
R5652:Lsr
|
UTSW |
7 |
30,658,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R6052:Lsr
|
UTSW |
7 |
30,658,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Lsr
|
UTSW |
7 |
30,658,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6566:Lsr
|
UTSW |
7 |
30,671,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6917:Lsr
|
UTSW |
7 |
30,657,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7842:Lsr
|
UTSW |
7 |
30,665,437 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7941:Lsr
|
UTSW |
7 |
30,672,520 (GRCm39) |
missense |
probably benign |
|
R9255:Lsr
|
UTSW |
7 |
30,657,670 (GRCm39) |
missense |
probably benign |
0.01 |
R9641:Lsr
|
UTSW |
7 |
30,658,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Lsr
|
UTSW |
7 |
30,657,492 (GRCm39) |
small deletion |
probably benign |
|
X0050:Lsr
|
UTSW |
7 |
30,671,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGGAGAAGCCCAAGTGAC -3'
(R):5'- CTGGATGAATGGTTTCACTTTAGC -3'
Sequencing Primer
(F):5'- AGCCCAAGTGACTGGCAGTG -3'
(R):5'- GTAGGTACTTGTCTGAAATCCCAGC -3'
|
Posted On |
2016-06-21 |