Incidental Mutation 'R3772:Vmn2r60'
| ID |
273353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r60
|
| Ensembl Gene |
ENSMUSG00000090619 |
| Gene Name |
vomeronasal 2, receptor 60 |
| Synonyms |
Casr-rs3, EG637898, Gprc2a-rs3 |
| MMRRC Submission |
040748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R3772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41765895-41845200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41765980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 29
(N29I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166447]
|
| AlphaFold |
A0A3B2WBC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166447
AA Change: N29I
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: N29I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,159,720 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,649,633 (GRCm39) |
N97S |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,160,202 (GRCm39) |
D76G |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,105,431 (GRCm39) |
E179G |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,564,418 (GRCm39) |
D324G |
probably damaging |
Het |
| Arfgap2 |
A |
G |
2: 91,095,711 (GRCm39) |
T12A |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,208,880 (GRCm39) |
L85P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,925,424 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,712,015 (GRCm39) |
I403N |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,220,915 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,932,359 (GRCm39) |
|
probably benign |
Het |
| Ccl2 |
C |
T |
11: 81,927,784 (GRCm39) |
A76V |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,464,615 (GRCm39) |
I180T |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,251,041 (GRCm39) |
L1680P |
probably damaging |
Het |
| Col4a6 |
C |
A |
X: 139,955,196 (GRCm39) |
G1416C |
probably damaging |
Het |
| Ctnna2 |
T |
G |
6: 76,950,752 (GRCm39) |
N573T |
probably damaging |
Het |
| Cts8 |
G |
A |
13: 61,398,715 (GRCm39) |
|
probably benign |
Het |
| Cxcl17 |
A |
G |
7: 25,099,754 (GRCm39) |
|
probably benign |
Het |
| Defb18 |
T |
C |
1: 18,306,845 (GRCm39) |
H37R |
possibly damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,782,130 (GRCm39) |
I229T |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,129,333 (GRCm39) |
S1474N |
possibly damaging |
Het |
| Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,108 (GRCm39) |
K532R |
probably benign |
Het |
| Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
| Focad |
A |
C |
4: 88,254,398 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
| Frrs1 |
T |
G |
3: 116,672,036 (GRCm39) |
S45A |
possibly damaging |
Het |
| Gm5422 |
T |
A |
10: 31,124,510 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
T |
C |
5: 52,740,088 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
| Iglon5 |
A |
T |
7: 43,130,037 (GRCm39) |
Y42* |
probably null |
Het |
| Khdrbs2 |
C |
T |
1: 32,283,157 (GRCm39) |
Q90* |
probably null |
Het |
| Krt74 |
T |
C |
15: 101,670,630 (GRCm39) |
|
noncoding transcript |
Het |
| Lamc2 |
T |
A |
1: 152,999,997 (GRCm39) |
M1121L |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,582,798 (GRCm39) |
L1073P |
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Man2c1 |
C |
A |
9: 57,047,661 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,416,934 (GRCm39) |
D768N |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,371,224 (GRCm39) |
N4108S |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,651,003 (GRCm39) |
|
probably benign |
Het |
| Nnt |
A |
G |
13: 119,533,488 (GRCm39) |
V59A |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
| Or1o4 |
T |
C |
17: 37,590,745 (GRCm39) |
T189A |
probably benign |
Het |
| Pag1 |
G |
A |
3: 9,764,688 (GRCm39) |
T155M |
probably benign |
Het |
| Pgam5 |
T |
C |
5: 110,413,459 (GRCm39) |
H176R |
probably damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,918 (GRCm39) |
D149G |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 140,662,259 (GRCm39) |
M1I |
probably null |
Het |
| Pld2 |
C |
T |
11: 70,434,949 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
| Rab9b |
T |
A |
X: 135,762,198 (GRCm39) |
E67D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,777,932 (GRCm39) |
M625V |
possibly damaging |
Het |
| Rwdd2a |
A |
C |
9: 86,456,214 (GRCm39) |
N130T |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
| Septin10 |
A |
T |
10: 59,012,709 (GRCm39) |
M303K |
probably damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,558,375 (GRCm39) |
E339G |
probably damaging |
Het |
| Sf3b1 |
C |
A |
1: 55,039,150 (GRCm39) |
|
probably benign |
Het |
| Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
| Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
| St18 |
A |
T |
1: 6,914,553 (GRCm39) |
K799I |
probably damaging |
Het |
| Strada |
C |
T |
11: 106,055,648 (GRCm39) |
R333Q |
probably damaging |
Het |
| Stradb |
A |
T |
1: 59,024,544 (GRCm39) |
I64L |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,224,575 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,498,640 (GRCm39) |
D651G |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,729,810 (GRCm39) |
D417V |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,757,495 (GRCm39) |
L374P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,180,011 (GRCm39) |
V262A |
possibly damaging |
Het |
| Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
| Zbed4 |
C |
T |
15: 88,664,990 (GRCm39) |
P353S |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
| Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
| Zwilch |
A |
T |
9: 64,063,316 (GRCm39) |
F286I |
probably benign |
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 |
|
|
R2847:Vmn2r60
|
UTSW |
7 |
41,785,857 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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'- GCACAAAATGTTCACAAGCCTG -3'
(R):5'- AAAACCCCGAAGTTCATGGTC -3'
Sequencing Primer
(F):5'- ACAAGCCTGTGAACTAAATATATACC -3'
(R):5'- ACCCCGAAGTTCATGGTCATACTTAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation