Incidental Mutation 'R2847:Vmn2r60'
| ID |
251695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r60
|
| Ensembl Gene |
ENSMUSG00000090619 |
| Gene Name |
vomeronasal 2, receptor 60 |
| Synonyms |
Casr-rs3, EG637898, Gprc2a-rs3 |
| MMRRC Submission |
040440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R2847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41765895-41845200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41785857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 220
(H220L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166447]
|
| AlphaFold |
A0A3B2WBC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166447
AA Change: H220L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: H220L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
78 |
471 |
1.2e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
5.1e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.4e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930510E17Rik |
T |
C |
9: 53,176,089 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
T |
C |
11: 9,244,584 (GRCm39) |
V2149A |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
| Adgrf5 |
C |
A |
17: 43,733,531 (GRCm39) |
N118K |
possibly damaging |
Het |
| Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,172,613 (GRCm39) |
T326M |
possibly damaging |
Het |
| Cd151 |
T |
C |
7: 141,049,463 (GRCm39) |
Y57H |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,645,932 (GRCm39) |
N112S |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,183,387 (GRCm39) |
D31V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,328,342 (GRCm39) |
L81P |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,051 (GRCm39) |
L209Q |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,746,067 (GRCm39) |
A1684V |
probably damaging |
Het |
| Cyp4f37 |
T |
A |
17: 32,848,099 (GRCm39) |
C206S |
probably damaging |
Het |
| Defb39 |
C |
T |
8: 19,102,909 (GRCm39) |
R62H |
possibly damaging |
Het |
| Dennd2b |
T |
C |
7: 109,124,544 (GRCm39) |
Q1099R |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,106,314 (GRCm39) |
K1756E |
probably benign |
Het |
| Efcab12 |
A |
G |
6: 115,788,072 (GRCm39) |
I630T |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,762,445 (GRCm39) |
V736A |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
| Fndc9 |
C |
T |
11: 46,128,868 (GRCm39) |
A129V |
probably damaging |
Het |
| Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,000 (GRCm39) |
|
probably null |
Het |
| Gna12 |
T |
A |
5: 140,771,348 (GRCm39) |
D61V |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,666,945 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,579,829 (GRCm39) |
F145L |
possibly damaging |
Het |
| Grin2b |
C |
A |
6: 135,717,951 (GRCm39) |
V714L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
| Htr4 |
T |
C |
18: 62,561,197 (GRCm39) |
S153P |
probably damaging |
Het |
| Igkv9-120 |
T |
A |
6: 68,027,128 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,430,879 (GRCm39) |
T772A |
probably damaging |
Het |
| Mgam |
C |
A |
6: 40,629,649 (GRCm39) |
A86E |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,252,620 (GRCm39) |
N421K |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,370,763 (GRCm39) |
V331I |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,573,323 (GRCm39) |
C816R |
probably damaging |
Het |
| Nav1 |
G |
C |
1: 135,378,382 (GRCm39) |
|
probably null |
Het |
| Nln |
A |
G |
13: 104,161,533 (GRCm39) |
M679T |
probably damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,536 (GRCm39) |
L108P |
probably damaging |
Het |
| Or8b53 |
C |
T |
9: 38,667,332 (GRCm39) |
T116I |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,506,954 (GRCm39) |
D361G |
possibly damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,912 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
G |
T |
17: 84,905,394 (GRCm39) |
R1096L |
probably damaging |
Het |
| Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,315,772 (GRCm39) |
R342* |
probably null |
Het |
| Sec23ip |
G |
A |
7: 128,355,797 (GRCm39) |
V307I |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
| Tas1r3 |
T |
A |
4: 155,944,659 (GRCm39) |
Q854L |
probably benign |
Het |
| Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
| Trpm4 |
A |
G |
7: 44,960,022 (GRCm39) |
F771S |
probably damaging |
Het |
| Tstd3 |
A |
T |
4: 21,759,375 (GRCm39) |
F132L |
possibly damaging |
Het |
| Ulk2 |
T |
C |
11: 61,715,555 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
C |
4: 43,180,404 (GRCm39) |
Y3080H |
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,810,759 (GRCm39) |
N81K |
probably benign |
Het |
| Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,509,948 (GRCm39) |
M844K |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,680,963 (GRCm39) |
S1078P |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,184,582 (GRCm39) |
R360L |
probably benign |
Het |
| Xlr4b |
A |
T |
X: 72,258,938 (GRCm39) |
Q25L |
probably null |
Het |
| Zdhhc22 |
T |
A |
12: 87,035,336 (GRCm39) |
T39S |
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,789,697 (GRCm39) |
H1045Q |
possibly damaging |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
| Zfp985 |
G |
A |
4: 147,667,468 (GRCm39) |
W112* |
probably null |
Het |
|
| Other mutations in Vmn2r60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Vmn2r60
|
APN |
7 |
41,785,910 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01623:Vmn2r60
|
APN |
7 |
41,785,910 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02363:Vmn2r60
|
APN |
7 |
41,844,578 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02485:Vmn2r60
|
APN |
7 |
41,844,890 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02651:Vmn2r60
|
APN |
7 |
41,845,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02660:Vmn2r60
|
APN |
7 |
41,791,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL03135:Vmn2r60
|
APN |
7 |
41,786,018 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03307:Vmn2r60
|
APN |
7 |
41,765,971 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0310:Vmn2r60
|
UTSW |
7 |
41,844,564 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0314:Vmn2r60
|
UTSW |
7 |
41,784,985 (GRCm39) |
splice site |
probably benign |
|
|
R0328:Vmn2r60
|
UTSW |
7 |
41,791,744 (GRCm39) |
splice site |
probably benign |
|
|
R0464:Vmn2r60
|
UTSW |
7 |
41,785,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0755:Vmn2r60
|
UTSW |
7 |
41,844,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Vmn2r60
|
UTSW |
7 |
41,844,365 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1162:Vmn2r60
|
UTSW |
7 |
41,845,195 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1241:Vmn2r60
|
UTSW |
7 |
41,786,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1404:Vmn2r60
|
UTSW |
7 |
41,786,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1404:Vmn2r60
|
UTSW |
7 |
41,786,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1488:Vmn2r60
|
UTSW |
7 |
41,786,137 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1623:Vmn2r60
|
UTSW |
7 |
41,785,279 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Vmn2r60
|
UTSW |
7 |
41,785,830 (GRCm39) |
nonsense |
probably null |
|
|
R1883:Vmn2r60
|
UTSW |
7 |
41,786,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1884:Vmn2r60
|
UTSW |
7 |
41,786,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2182:Vmn2r60
|
UTSW |
7 |
41,844,931 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2275:Vmn2r60
|
UTSW |
7 |
41,786,251 (GRCm39) |
nonsense |
probably null |
|
|
R2885:Vmn2r60
|
UTSW |
7 |
41,790,403 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2894:Vmn2r60
|
UTSW |
7 |
41,785,220 (GRCm39) |
missense |
probably benign |
|
|
R2921:Vmn2r60
|
UTSW |
7 |
41,790,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2922:Vmn2r60
|
UTSW |
7 |
41,790,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3772:Vmn2r60
|
UTSW |
7 |
41,765,980 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3820:Vmn2r60
|
UTSW |
7 |
41,785,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3822:Vmn2r60
|
UTSW |
7 |
41,785,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3872:Vmn2r60
|
UTSW |
7 |
41,785,878 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4222:Vmn2r60
|
UTSW |
7 |
41,765,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4223:Vmn2r60
|
UTSW |
7 |
41,765,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4224:Vmn2r60
|
UTSW |
7 |
41,765,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4526:Vmn2r60
|
UTSW |
7 |
41,844,667 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4547:Vmn2r60
|
UTSW |
7 |
41,785,087 (GRCm39) |
missense |
probably null |
0.54 |
|
R4840:Vmn2r60
|
UTSW |
7 |
41,785,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Vmn2r60
|
UTSW |
7 |
41,844,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5231:Vmn2r60
|
UTSW |
7 |
41,786,448 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5480:Vmn2r60
|
UTSW |
7 |
41,785,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5521:Vmn2r60
|
UTSW |
7 |
41,845,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5834:Vmn2r60
|
UTSW |
7 |
41,765,932 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6038:Vmn2r60
|
UTSW |
7 |
41,844,386 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6038:Vmn2r60
|
UTSW |
7 |
41,844,386 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6112:Vmn2r60
|
UTSW |
7 |
41,844,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Vmn2r60
|
UTSW |
7 |
41,786,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Vmn2r60
|
UTSW |
7 |
41,785,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6383:Vmn2r60
|
UTSW |
7 |
41,765,895 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R6811:Vmn2r60
|
UTSW |
7 |
41,844,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6876:Vmn2r60
|
UTSW |
7 |
41,785,087 (GRCm39) |
missense |
probably null |
0.54 |
|
R6997:Vmn2r60
|
UTSW |
7 |
41,791,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7040:Vmn2r60
|
UTSW |
7 |
41,791,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7116:Vmn2r60
|
UTSW |
7 |
41,786,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7128:Vmn2r60
|
UTSW |
7 |
41,844,536 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7232:Vmn2r60
|
UTSW |
7 |
41,786,166 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7296:Vmn2r60
|
UTSW |
7 |
41,785,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7376:Vmn2r60
|
UTSW |
7 |
41,844,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Vmn2r60
|
UTSW |
7 |
41,845,158 (GRCm39) |
frame shift |
probably null |
|
|
R7527:Vmn2r60
|
UTSW |
7 |
41,845,158 (GRCm39) |
frame shift |
probably null |
|
|
R7528:Vmn2r60
|
UTSW |
7 |
41,845,158 (GRCm39) |
frame shift |
probably null |
|
|
R7764:Vmn2r60
|
UTSW |
7 |
41,844,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7843:Vmn2r60
|
UTSW |
7 |
41,844,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8080:Vmn2r60
|
UTSW |
7 |
41,790,521 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8290:Vmn2r60
|
UTSW |
7 |
41,791,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Vmn2r60
|
UTSW |
7 |
41,790,494 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8362:Vmn2r60
|
UTSW |
7 |
41,844,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Vmn2r60
|
UTSW |
7 |
41,844,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8848:Vmn2r60
|
UTSW |
7 |
41,786,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Vmn2r60
|
UTSW |
7 |
41,791,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8882:Vmn2r60
|
UTSW |
7 |
41,790,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8913:Vmn2r60
|
UTSW |
7 |
41,785,778 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9190:Vmn2r60
|
UTSW |
7 |
41,844,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9229:Vmn2r60
|
UTSW |
7 |
41,791,723 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9295:Vmn2r60
|
UTSW |
7 |
41,785,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9335:Vmn2r60
|
UTSW |
7 |
41,844,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Vmn2r60
|
UTSW |
7 |
41,785,172 (GRCm39) |
missense |
probably benign |
|
|
RF024:Vmn2r60
|
UTSW |
7 |
41,790,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0023:Vmn2r60
|
UTSW |
7 |
41,790,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATTTTGTCTGATGCCAATG -3'
(R):5'- ACTTTCCATGTCACTAACAGTTGTG -3'
Sequencing Primer
(F):5'- GTCTGATGCCAATGTATTTTGTTATC -3'
(R):5'- AACCTTGTACAGAAATAATGTCTCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation