Incidental Mutation 'R0109:Vmn2r53'
| ID |
64200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
038395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R0109 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12315993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 609
(A609T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170412
AA Change: A609T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: A609T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.6e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
3.1e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
| Col19a1 |
A |
C |
1: 24,598,849 (GRCm39) |
|
probably null |
Het |
| Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,601,878 (GRCm39) |
F101L |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,857,936 (GRCm39) |
S2077P |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
| Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
| Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
| Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,561,841 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
C |
15: 80,893,667 (GRCm39) |
D434H |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,964,314 (GRCm39) |
S634P |
possibly damaging |
Het |
| Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
| Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
| Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
| Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,555,908 (GRCm39) |
I30366F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,529,549 (GRCm39) |
Y184* |
probably null |
Het |
| Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,349,622 (GRCm39) |
N3272K |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp454 |
T |
A |
11: 50,774,602 (GRCm39) |
T24S |
possibly damaging |
Het |
|
| Other mutations in Vmn2r53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Vmn2r53
|
APN |
7 |
12,334,835 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01997:Vmn2r53
|
APN |
7 |
12,316,373 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02442:Vmn2r53
|
APN |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02449:Vmn2r53
|
APN |
7 |
12,316,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Vmn2r53
|
APN |
7 |
12,315,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02986:Vmn2r53
|
APN |
7 |
12,315,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03064:Vmn2r53
|
APN |
7 |
12,334,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03093:Vmn2r53
|
APN |
7 |
12,334,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03244:Vmn2r53
|
APN |
7 |
12,340,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Vmn2r53
|
APN |
7 |
12,340,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Vmn2r53
|
APN |
7 |
12,315,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03293:Vmn2r53
|
APN |
7 |
12,332,349 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0453:Vmn2r53
|
UTSW |
7 |
12,316,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Vmn2r53
|
UTSW |
7 |
12,315,707 (GRCm39) |
missense |
probably benign |
|
|
R0881:Vmn2r53
|
UTSW |
7 |
12,334,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0894:Vmn2r53
|
UTSW |
7 |
12,335,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Vmn2r53
|
UTSW |
7 |
12,315,429 (GRCm39) |
missense |
probably benign |
|
|
R1102:Vmn2r53
|
UTSW |
7 |
12,332,410 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1141:Vmn2r53
|
UTSW |
7 |
12,334,673 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1263:Vmn2r53
|
UTSW |
7 |
12,315,533 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1343:Vmn2r53
|
UTSW |
7 |
12,318,701 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1750:Vmn2r53
|
UTSW |
7 |
12,315,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Vmn2r53
|
UTSW |
7 |
12,334,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Vmn2r53
|
UTSW |
7 |
12,332,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2202:Vmn2r53
|
UTSW |
7 |
12,335,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Vmn2r53
|
UTSW |
7 |
12,315,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4372:Vmn2r53
|
UTSW |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4615:Vmn2r53
|
UTSW |
7 |
12,316,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Vmn2r53
|
UTSW |
7 |
12,315,932 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4663:Vmn2r53
|
UTSW |
7 |
12,334,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4708:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4710:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4774:Vmn2r53
|
UTSW |
7 |
12,334,692 (GRCm39) |
nonsense |
probably null |
|
|
R4859:Vmn2r53
|
UTSW |
7 |
12,335,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Vmn2r53
|
UTSW |
7 |
12,315,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5561:Vmn2r53
|
UTSW |
7 |
12,335,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Vmn2r53
|
UTSW |
7 |
12,334,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r53
|
UTSW |
7 |
12,316,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6083:Vmn2r53
|
UTSW |
7 |
12,315,808 (GRCm39) |
missense |
probably benign |
|
|
R6312:Vmn2r53
|
UTSW |
7 |
12,332,566 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6700:Vmn2r53
|
UTSW |
7 |
12,315,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6783:Vmn2r53
|
UTSW |
7 |
12,335,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn2r53
|
UTSW |
7 |
12,340,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6889:Vmn2r53
|
UTSW |
7 |
12,335,069 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6940:Vmn2r53
|
UTSW |
7 |
12,316,343 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7100:Vmn2r53
|
UTSW |
7 |
12,315,513 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Vmn2r53
|
UTSW |
7 |
12,315,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7213:Vmn2r53
|
UTSW |
7 |
12,334,983 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7276:Vmn2r53
|
UTSW |
7 |
12,340,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7515:Vmn2r53
|
UTSW |
7 |
12,315,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7678:Vmn2r53
|
UTSW |
7 |
12,332,425 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7714:Vmn2r53
|
UTSW |
7 |
12,340,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r53
|
UTSW |
7 |
12,316,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Vmn2r53
|
UTSW |
7 |
12,335,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn2r53
|
UTSW |
7 |
12,315,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8478:Vmn2r53
|
UTSW |
7 |
12,340,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8853:Vmn2r53
|
UTSW |
7 |
12,315,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Vmn2r53
|
UTSW |
7 |
12,334,752 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8963:Vmn2r53
|
UTSW |
7 |
12,315,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Vmn2r53
|
UTSW |
7 |
12,315,435 (GRCm39) |
missense |
probably benign |
|
|
R9076:Vmn2r53
|
UTSW |
7 |
12,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Vmn2r53
|
UTSW |
7 |
12,335,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Vmn2r53
|
UTSW |
7 |
12,315,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r53
|
UTSW |
7 |
12,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAACCCTCATGGCATTGGATGAC -3'
(R):5'- TGTTCCTGAAGCACCGGGATACAC -3'
Sequencing Primer
(F):5'- GCATTGGATGACAGTGTGCC -3'
(R):5'- TGTGGTCAGGGCCAACAAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation