Incidental Mutation 'R9108:Vmn2r57'
| ID |
692076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R9108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41078192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 89
(I89V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
| AlphaFold |
L7N269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165029
AA Change: I89V
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: I89V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
A |
18: 6,638,794 (GRCm39) |
V398M |
probably benign |
Het |
| 4930568D16Rik |
G |
A |
2: 35,244,942 (GRCm39) |
P137S |
probably damaging |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Abcg8 |
A |
C |
17: 85,000,243 (GRCm39) |
I268L |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,039,038 (GRCm39) |
Q445R |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,380,132 (GRCm39) |
N625D |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,857,721 (GRCm39) |
V856M |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,643,474 (GRCm39) |
C452R |
probably damaging |
Het |
| Adgra3 |
G |
T |
5: 50,136,295 (GRCm39) |
A730D |
probably damaging |
Het |
| Adnp2 |
C |
T |
18: 80,185,925 (GRCm39) |
R16Q |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,321,851 (GRCm39) |
C48R |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,492,973 (GRCm39) |
E1774G |
possibly damaging |
Het |
| Capsl |
A |
T |
15: 9,465,910 (GRCm39) |
I199F |
possibly damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,718,512 (GRCm39) |
D36E |
possibly damaging |
Het |
| Cep170 |
T |
A |
1: 176,616,051 (GRCm39) |
K86* |
probably null |
Het |
| Cnnm1 |
T |
C |
19: 43,464,649 (GRCm39) |
F736S |
possibly damaging |
Het |
| Col11a2 |
T |
A |
17: 34,276,634 (GRCm39) |
V532E |
probably benign |
Het |
| Dnmt3l |
T |
C |
10: 77,892,756 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
A |
12: 110,622,706 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
C |
A |
2: 144,364,391 (GRCm39) |
V69L |
probably benign |
Het |
| Epor |
T |
G |
9: 21,870,875 (GRCm39) |
E335A |
probably damaging |
Het |
| Fbxo46 |
A |
T |
7: 18,870,308 (GRCm39) |
Y309F |
probably damaging |
Het |
| Fra10ac1 |
A |
T |
19: 38,202,779 (GRCm39) |
|
probably benign |
Het |
| Gid8 |
G |
T |
2: 180,352,132 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
G |
3: 36,080,036 (GRCm39) |
*240C |
probably null |
Het |
| Gnptab |
C |
T |
10: 88,269,400 (GRCm39) |
S701L |
|
Het |
| Ifnl3 |
T |
C |
7: 28,223,704 (GRCm39) |
L180P |
probably benign |
Het |
| Ikzf2 |
T |
A |
1: 69,577,956 (GRCm39) |
I518F |
probably damaging |
Het |
| Ildr1 |
A |
G |
16: 36,535,919 (GRCm39) |
T145A |
probably benign |
Het |
| Kiss1r |
A |
T |
10: 79,754,336 (GRCm39) |
|
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,252,018 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,390,206 (GRCm39) |
M3071K |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,986,103 (GRCm39) |
L872P |
probably damaging |
Het |
| Mgst2 |
T |
A |
3: 51,589,233 (GRCm39) |
L82Q |
probably damaging |
Het |
| Mier2 |
A |
T |
10: 79,377,756 (GRCm39) |
V399E |
probably benign |
Het |
| Nms |
T |
C |
1: 38,985,147 (GRCm39) |
V91A |
possibly damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,857,016 (GRCm39) |
Y145* |
probably null |
Het |
| Olfml2a |
A |
T |
2: 38,831,753 (GRCm39) |
M111L |
probably benign |
Het |
| Or5p63 |
T |
C |
7: 107,810,846 (GRCm39) |
N297D |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,779 (GRCm39) |
L172Q |
unknown |
Het |
| Plod3 |
T |
C |
5: 137,018,017 (GRCm39) |
I221T |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,779,872 (GRCm39) |
Q342R |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,521,303 (GRCm39) |
L275F |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,929 (GRCm39) |
T182M |
possibly damaging |
Het |
| Rasgrp2 |
G |
A |
19: 6,458,890 (GRCm39) |
V440M |
probably damaging |
Het |
| Rnf111 |
C |
T |
9: 70,336,846 (GRCm39) |
G947D |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,882,692 (GRCm39) |
M143L |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,373,104 (GRCm39) |
S1386G |
possibly damaging |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,087,975 (GRCm39) |
S242P |
probably damaging |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Spata31d1a |
A |
G |
13: 59,850,982 (GRCm39) |
V382A |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,810,580 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,766,271 (GRCm39) |
|
probably null |
Het |
| Trip10 |
C |
T |
17: 57,560,519 (GRCm39) |
A123V |
probably damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,129 (GRCm39) |
S460P |
probably damaging |
Het |
| Trpd52l3 |
A |
G |
19: 29,981,329 (GRCm39) |
N28S |
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,388,232 (GRCm39) |
F265L |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,282,934 (GRCm39) |
C581S |
possibly damaging |
Het |
| Uckl1 |
A |
G |
2: 181,211,293 (GRCm39) |
V512A |
probably damaging |
Het |
| Usp34 |
A |
T |
11: 23,320,528 (GRCm39) |
M957L |
|
Het |
| Zfp1005 |
T |
A |
2: 150,109,969 (GRCm39) |
C220S |
possibly damaging |
Het |
| Zfp322a |
T |
C |
13: 23,541,437 (GRCm39) |
I102V |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,790,604 (GRCm39) |
D2186G |
probably benign |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,078,209 (GRCm39) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,077,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,074,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,049,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,049,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,077,650 (GRCm39) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,098,056 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,049,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,050,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,049,157 (GRCm39) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,076,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,078,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,077,228 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,077,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,077,254 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,049,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,050,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,077,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,098,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,078,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,077,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,077,663 (GRCm39) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,076,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,049,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,049,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,078,086 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,075,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,049,664 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,077,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,049,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,078,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,049,284 (GRCm39) |
missense |
probably benign |
|
|
R6381:Vmn2r57
|
UTSW |
7 |
41,078,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7019:Vmn2r57
|
UTSW |
7 |
41,078,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,049,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,049,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,076,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7633:Vmn2r57
|
UTSW |
7 |
41,074,513 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,074,439 (GRCm39) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,076,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Vmn2r57
|
UTSW |
7 |
41,049,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,076,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,049,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,077,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,078,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,049,571 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,049,259 (GRCm39) |
missense |
probably benign |
|
|
R9160:Vmn2r57
|
UTSW |
7 |
41,076,159 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,049,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,077,089 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,076,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,077,395 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,049,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCTGTAAGTGCTGCAGG -3'
(R):5'- ACTGATAGGCCAAGATTCAAGGAC -3'
Sequencing Primer
(F):5'- CCTGTAAGTGCTGCAGGTAAATTTC -3'
(R):5'- GGCCAAGATTCAAGGACTAAATATTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation