Incidental Mutation 'R0787:Lrrn3'
ID |
76914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrn3
|
Ensembl Gene |
ENSMUSG00000036295 |
Gene Name |
leucine rich repeat protein 3, neuronal |
Synonyms |
NLRR-3 |
MMRRC Submission |
038967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R0787 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
41501667-41536056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 41504230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 29
(C29F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043818
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043884]
[ENSMUST00000132121]
[ENSMUST00000134965]
|
AlphaFold |
Q8CBC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043884
AA Change: C29F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043818 Gene: ENSMUSG00000036295 AA Change: C29F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
LRRNT
|
28 |
73 |
9.17e-4 |
SMART |
LRR
|
115 |
138 |
2.63e0 |
SMART |
LRR_TYP
|
139 |
162 |
1.5e-4 |
SMART |
LRR
|
163 |
186 |
7.55e-1 |
SMART |
LRR
|
187 |
210 |
1.76e1 |
SMART |
LRR
|
211 |
234 |
1.62e1 |
SMART |
LRR
|
235 |
258 |
5.11e0 |
SMART |
LRR
|
260 |
282 |
3.18e1 |
SMART |
LRR
|
333 |
356 |
4.44e0 |
SMART |
LRRCT
|
368 |
420 |
3.7e-5 |
SMART |
IGc2
|
435 |
503 |
5.04e-9 |
SMART |
FN3
|
521 |
602 |
3.49e0 |
SMART |
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132121
|
SMART Domains |
Protein: ENSMUSP00000118779 Gene: ENSMUSG00000056899
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_S24
|
38 |
115 |
7.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134965
|
SMART Domains |
Protein: ENSMUSP00000116441 Gene: ENSMUSG00000056899
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_S24
|
38 |
114 |
6.4e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.8938 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibited increased mean percent body fat and male homozygous mutant mice exhibited enhanced glucose tolerance when compared with controls. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001F09Rik |
A |
T |
14: 43,202,950 (GRCm39) |
|
probably null |
Het |
Abca8a |
T |
A |
11: 109,933,814 (GRCm39) |
Y1197F |
possibly damaging |
Het |
Abcc2 |
T |
C |
19: 43,786,955 (GRCm39) |
|
probably null |
Het |
Adamts16 |
A |
T |
13: 70,886,948 (GRCm39) |
C979S |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,921,019 (GRCm39) |
D523E |
unknown |
Het |
Ankfy1 |
T |
A |
11: 72,651,122 (GRCm39) |
I1024N |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,700,315 (GRCm39) |
S379G |
probably null |
Het |
Arhgap40 |
T |
C |
2: 158,389,710 (GRCm39) |
S625P |
probably benign |
Het |
Armc12 |
G |
C |
17: 28,757,740 (GRCm39) |
A291P |
probably damaging |
Het |
Armc9 |
A |
G |
1: 86,130,227 (GRCm39) |
N524D |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,545,767 (GRCm39) |
T2305K |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,036,079 (GRCm39) |
N277S |
probably benign |
Het |
Czib |
T |
A |
4: 107,747,326 (GRCm39) |
L6Q |
probably damaging |
Het |
Dennd2b |
G |
T |
7: 109,124,827 (GRCm39) |
R1068S |
possibly damaging |
Het |
E130311K13Rik |
A |
T |
3: 63,827,719 (GRCm39) |
V129E |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,772,696 (GRCm39) |
D79G |
possibly damaging |
Het |
Epb41l1 |
A |
G |
2: 156,336,010 (GRCm39) |
E58G |
probably damaging |
Het |
Fam217b |
T |
A |
2: 178,062,702 (GRCm39) |
V222E |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,493,592 (GRCm39) |
Y3913N |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,241,765 (GRCm39) |
|
probably benign |
Het |
Hltf |
A |
T |
3: 20,160,610 (GRCm39) |
D759V |
probably damaging |
Het |
Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
Isg15 |
C |
T |
4: 156,284,396 (GRCm39) |
R44H |
probably benign |
Het |
Itga4 |
C |
T |
2: 79,109,497 (GRCm39) |
T232I |
probably benign |
Het |
Kntc1 |
C |
A |
5: 123,934,167 (GRCm39) |
H1399Q |
probably benign |
Het |
Lig1 |
A |
C |
7: 13,032,995 (GRCm39) |
K499Q |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,950,363 (GRCm39) |
I136T |
possibly damaging |
Het |
Naip1 |
A |
G |
13: 100,562,604 (GRCm39) |
Y854H |
probably benign |
Het |
Or6c201 |
T |
C |
10: 128,969,395 (GRCm39) |
N81D |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,124,193 (GRCm39) |
A659V |
possibly damaging |
Het |
Phf20l1 |
T |
A |
15: 66,487,479 (GRCm39) |
|
probably benign |
Het |
Phgdh |
A |
G |
3: 98,241,865 (GRCm39) |
V83A |
probably damaging |
Het |
Pik3r1 |
A |
T |
13: 101,827,031 (GRCm39) |
M326K |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,802,916 (GRCm39) |
D235G |
possibly damaging |
Het |
Pkhd1l1 |
C |
A |
15: 44,392,660 (GRCm39) |
P1665Q |
probably damaging |
Het |
Ppp1r7 |
A |
G |
1: 93,292,678 (GRCm39) |
T326A |
probably damaging |
Het |
Prr22 |
A |
T |
17: 57,078,072 (GRCm39) |
Y75F |
possibly damaging |
Het |
Ptov1 |
A |
C |
7: 44,514,894 (GRCm39) |
|
probably null |
Het |
Rasal2 |
A |
G |
1: 156,986,266 (GRCm39) |
S766P |
probably damaging |
Het |
Shmt1 |
T |
C |
11: 60,683,802 (GRCm39) |
T337A |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,686,645 (GRCm39) |
I1168N |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,912,777 (GRCm39) |
V1126A |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,066,687 (GRCm39) |
S2304T |
possibly damaging |
Het |
Tiam1 |
C |
A |
16: 89,586,449 (GRCm39) |
R1446M |
probably damaging |
Het |
Tmem87a |
T |
C |
2: 120,200,965 (GRCm39) |
I425V |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,781,765 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,200,581 (GRCm39) |
|
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,304,713 (GRCm39) |
S573P |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,105,254 (GRCm39) |
V191E |
probably damaging |
Het |
Zdhhc3 |
A |
T |
9: 122,912,688 (GRCm39) |
C153* |
probably null |
Het |
Zfp407 |
A |
T |
18: 84,227,147 (GRCm39) |
V2154D |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,227,471 (GRCm39) |
V2046A |
probably benign |
Het |
Zfr |
T |
A |
15: 12,140,634 (GRCm39) |
I227N |
unknown |
Het |
|
Other mutations in Lrrn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Lrrn3
|
APN |
12 |
41,502,191 (GRCm39) |
intron |
probably benign |
|
IGL02825:Lrrn3
|
APN |
12 |
41,502,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02927:Lrrn3
|
APN |
12 |
41,503,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02970:Lrrn3
|
APN |
12 |
41,502,359 (GRCm39) |
missense |
probably benign |
|
IGL02995:Lrrn3
|
APN |
12 |
41,502,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02999:Lrrn3
|
APN |
12 |
41,502,750 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03182:Lrrn3
|
APN |
12 |
41,504,020 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03280:Lrrn3
|
APN |
12 |
41,504,146 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4469001:Lrrn3
|
UTSW |
12 |
41,503,017 (GRCm39) |
missense |
probably benign |
0.03 |
R0167:Lrrn3
|
UTSW |
12 |
41,504,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Lrrn3
|
UTSW |
12 |
41,503,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Lrrn3
|
UTSW |
12 |
41,504,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Lrrn3
|
UTSW |
12 |
41,502,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1610:Lrrn3
|
UTSW |
12 |
41,502,992 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1834:Lrrn3
|
UTSW |
12 |
41,503,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R2068:Lrrn3
|
UTSW |
12 |
41,502,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Lrrn3
|
UTSW |
12 |
41,502,722 (GRCm39) |
missense |
probably benign |
0.00 |
R2871:Lrrn3
|
UTSW |
12 |
41,502,722 (GRCm39) |
missense |
probably benign |
0.00 |
R3771:Lrrn3
|
UTSW |
12 |
41,502,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R4408:Lrrn3
|
UTSW |
12 |
41,504,041 (GRCm39) |
missense |
probably benign |
0.04 |
R4410:Lrrn3
|
UTSW |
12 |
41,502,583 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4684:Lrrn3
|
UTSW |
12 |
41,504,243 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4770:Lrrn3
|
UTSW |
12 |
41,502,442 (GRCm39) |
missense |
probably benign |
0.08 |
R4927:Lrrn3
|
UTSW |
12 |
41,503,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5037:Lrrn3
|
UTSW |
12 |
41,503,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R5482:Lrrn3
|
UTSW |
12 |
41,502,387 (GRCm39) |
missense |
probably damaging |
0.96 |
R5482:Lrrn3
|
UTSW |
12 |
41,502,386 (GRCm39) |
missense |
probably benign |
0.01 |
R5667:Lrrn3
|
UTSW |
12 |
41,502,297 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6022:Lrrn3
|
UTSW |
12 |
41,503,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R6087:Lrrn3
|
UTSW |
12 |
41,503,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6129:Lrrn3
|
UTSW |
12 |
41,503,787 (GRCm39) |
nonsense |
probably null |
|
R6309:Lrrn3
|
UTSW |
12 |
41,503,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Lrrn3
|
UTSW |
12 |
41,503,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Lrrn3
|
UTSW |
12 |
41,502,910 (GRCm39) |
missense |
probably benign |
0.01 |
R7560:Lrrn3
|
UTSW |
12 |
41,502,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8059:Lrrn3
|
UTSW |
12 |
41,504,216 (GRCm39) |
missense |
probably benign |
0.22 |
R8134:Lrrn3
|
UTSW |
12 |
41,503,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R8798:Lrrn3
|
UTSW |
12 |
41,503,174 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9308:Lrrn3
|
UTSW |
12 |
41,503,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Lrrn3
|
UTSW |
12 |
41,503,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATAAGTCCAGGCCAGTCAGGTTC -3'
(R):5'- ACGGCAAGCATCTTTCCTCCAC -3'
Sequencing Primer
(F):5'- CAGTCAGGTTCACTGGGAAGTC -3'
(R):5'- GGCTCTCCTAAGTATTTCCATGAAGG -3'
|
Posted On |
2013-10-16 |