Incidental Mutation 'R1917:Vmn2r69'
| ID |
212607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r69
|
| Ensembl Gene |
ENSMUSG00000091006 |
| Gene Name |
vomeronasal 2, receptor 69 |
| Synonyms |
|
| MMRRC Submission |
039935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85055584-85064884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85060891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 231
(C231Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171213]
|
| AlphaFold |
G3XA45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171213
AA Change: C231Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132726
Gene: ENSMUSG00000091006
AA Change: C231Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
465 |
1.3e-28 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
1.8e-20 |
PFAM |
|
Pfam:7tm_3
|
592 |
827 |
3.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207880
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (83/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,982,341 (GRCm39) |
|
probably benign |
Het |
| Adgre5 |
A |
G |
8: 84,455,738 (GRCm39) |
V190A |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,151,395 (GRCm39) |
N1153S |
probably benign |
Het |
| Aldh1a7 |
G |
A |
19: 20,704,819 (GRCm39) |
H20Y |
probably benign |
Het |
| B430306N03Rik |
A |
G |
17: 48,631,176 (GRCm39) |
E278G |
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,506,891 (GRCm39) |
R72L |
probably null |
Het |
| Cc2d2a |
C |
G |
5: 43,863,564 (GRCm39) |
S675R |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,826,594 (GRCm39) |
E1040D |
probably damaging |
Het |
| Cmtm7 |
A |
G |
9: 114,592,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Coq4 |
A |
C |
2: 29,679,938 (GRCm39) |
T77P |
probably damaging |
Het |
| Cyp2j11 |
C |
A |
4: 96,228,211 (GRCm39) |
W136L |
probably damaging |
Het |
| Dctn2 |
T |
A |
10: 127,110,918 (GRCm39) |
Y86* |
probably null |
Het |
| Ddx56 |
A |
G |
11: 6,213,937 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,513,150 (GRCm39) |
S30P |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,851,441 (GRCm39) |
K1347R |
unknown |
Het |
| Fat3 |
T |
A |
9: 15,908,353 (GRCm39) |
T2550S |
possibly damaging |
Het |
| Fcrla |
G |
T |
1: 170,755,095 (GRCm39) |
C5* |
probably null |
Het |
| Fem1al |
A |
G |
11: 29,774,039 (GRCm39) |
S473P |
probably benign |
Het |
| Fermt1 |
T |
A |
2: 132,764,762 (GRCm39) |
D365V |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,022 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,218,658 (GRCm39) |
D807G |
probably benign |
Het |
| Fnip1 |
C |
T |
11: 54,371,510 (GRCm39) |
T177I |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,425,037 (GRCm39) |
Y662C |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,375,004 (GRCm39) |
|
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,186 (GRCm39) |
I85T |
probably damaging |
Het |
| Gm3476 |
A |
G |
14: 6,118,358 (GRCm38) |
L255P |
possibly damaging |
Het |
| Gm9966 |
T |
C |
7: 95,607,684 (GRCm39) |
C2R |
unknown |
Het |
| Gnpda1 |
T |
C |
18: 38,466,243 (GRCm39) |
|
probably null |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,090 (GRCm39) |
L246F |
possibly damaging |
Het |
| Hao1 |
A |
T |
2: 134,364,980 (GRCm39) |
S216T |
probably benign |
Het |
| Hnrnpr |
C |
A |
4: 136,059,799 (GRCm39) |
S301* |
probably null |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,342 (GRCm39) |
I201T |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,709,365 (GRCm39) |
E548G |
possibly damaging |
Het |
| Katnbl1 |
T |
C |
2: 112,239,524 (GRCm39) |
I241T |
probably benign |
Het |
| Keap1 |
G |
T |
9: 21,145,102 (GRCm39) |
Q299K |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,946,753 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Lrba |
G |
A |
3: 86,571,808 (GRCm39) |
G275R |
probably damaging |
Het |
| Map3k9 |
C |
A |
12: 81,827,564 (GRCm39) |
E29* |
probably null |
Het |
| Mat1a |
G |
A |
14: 40,843,394 (GRCm39) |
V307I |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,868,785 (GRCm39) |
M324K |
possibly damaging |
Het |
| Metap1d |
T |
C |
2: 71,341,871 (GRCm39) |
V155A |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,428,073 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,307,349 (GRCm39) |
T231A |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,908,836 (GRCm39) |
D90E |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,773,080 (GRCm39) |
I1837K |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,296,733 (GRCm39) |
H242Q |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,498 (GRCm39) |
|
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,918 (GRCm39) |
V274D |
probably damaging |
Het |
| Pak3 |
C |
A |
X: 142,574,298 (GRCm39) |
A553E |
possibly damaging |
Het |
| Pdia2 |
T |
A |
17: 26,417,079 (GRCm39) |
T122S |
possibly damaging |
Het |
| Pira12 |
C |
T |
7: 3,900,637 (GRCm39) |
V38M |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,463,310 (GRCm39) |
T132A |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,035,039 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
C |
4: 11,601,693 (GRCm39) |
N416T |
probably damaging |
Het |
| Recql4 |
A |
T |
15: 76,588,037 (GRCm39) |
Y1142* |
probably null |
Het |
| Rnf216 |
A |
G |
5: 142,978,561 (GRCm39) |
V859A |
probably benign |
Het |
| Scnm1 |
G |
T |
3: 95,037,584 (GRCm39) |
P161T |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,162,223 (GRCm39) |
I222V |
probably benign |
Het |
| Serpinf1 |
A |
G |
11: 75,301,833 (GRCm39) |
I274T |
possibly damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,819,334 (GRCm39) |
F641L |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,886,845 (GRCm39) |
I657V |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,714,232 (GRCm39) |
I877T |
possibly damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,679 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Spire2 |
A |
G |
8: 124,089,810 (GRCm39) |
D447G |
probably benign |
Het |
| Stk3 |
G |
A |
15: 35,073,363 (GRCm39) |
T119I |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,404,609 (GRCm39) |
F282S |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,776,744 (GRCm39) |
D248V |
probably damaging |
Het |
| Thoc6 |
C |
T |
17: 23,888,364 (GRCm39) |
|
probably benign |
Het |
| Timd5 |
A |
G |
11: 46,419,358 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,936 (GRCm39) |
D293V |
possibly damaging |
Het |
| Umodl1 |
G |
A |
17: 31,203,017 (GRCm39) |
V457M |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,376,524 (GRCm39) |
C689* |
probably null |
Het |
| Usp24 |
T |
G |
4: 106,267,483 (GRCm39) |
V1955G |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,842 (GRCm39) |
S25P |
probably damaging |
Het |
| Wdr73 |
C |
T |
7: 80,543,081 (GRCm39) |
D176N |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,443,281 (GRCm39) |
I41F |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,682,880 (GRCm39) |
S3440P |
unknown |
Het |
| Zfp52 |
T |
G |
17: 21,780,426 (GRCm39) |
N91K |
probably benign |
Het |
| Zfp930 |
C |
A |
8: 69,681,357 (GRCm39) |
Q350K |
probably benign |
Het |
| Zfp949 |
T |
C |
9: 88,452,115 (GRCm39) |
S562P |
probably damaging |
Het |
|
| Other mutations in Vmn2r69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Vmn2r69
|
APN |
7 |
85,055,739 (GRCm39) |
missense |
probably benign |
|
|
IGL01457:Vmn2r69
|
APN |
7 |
85,055,836 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01760:Vmn2r69
|
APN |
7 |
85,056,072 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01834:Vmn2r69
|
APN |
7 |
85,061,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Vmn2r69
|
APN |
7 |
85,056,434 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02057:Vmn2r69
|
APN |
7 |
85,060,990 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02289:Vmn2r69
|
APN |
7 |
85,056,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Vmn2r69
|
APN |
7 |
85,058,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02478:Vmn2r69
|
APN |
7 |
85,055,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02554:Vmn2r69
|
APN |
7 |
85,059,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02723:Vmn2r69
|
APN |
7 |
85,059,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Vmn2r69
|
UTSW |
7 |
85,060,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0560:Vmn2r69
|
UTSW |
7 |
85,058,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0909:Vmn2r69
|
UTSW |
7 |
85,055,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0976:Vmn2r69
|
UTSW |
7 |
85,056,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Vmn2r69
|
UTSW |
7 |
85,059,058 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Vmn2r69
|
UTSW |
7 |
85,055,908 (GRCm39) |
nonsense |
probably null |
|
|
R1482:Vmn2r69
|
UTSW |
7 |
85,056,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Vmn2r69
|
UTSW |
7 |
85,056,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2108:Vmn2r69
|
UTSW |
7 |
85,059,404 (GRCm39) |
missense |
probably benign |
|
|
R2571:Vmn2r69
|
UTSW |
7 |
85,064,764 (GRCm39) |
missense |
probably benign |
|
|
R2910:Vmn2r69
|
UTSW |
7 |
85,055,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Vmn2r69
|
UTSW |
7 |
85,060,973 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3708:Vmn2r69
|
UTSW |
7 |
85,061,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3710:Vmn2r69
|
UTSW |
7 |
85,055,601 (GRCm39) |
missense |
probably benign |
|
|
R4757:Vmn2r69
|
UTSW |
7 |
85,061,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Vmn2r69
|
UTSW |
7 |
85,060,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4870:Vmn2r69
|
UTSW |
7 |
85,060,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4918:Vmn2r69
|
UTSW |
7 |
85,055,967 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5022:Vmn2r69
|
UTSW |
7 |
85,060,367 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5174:Vmn2r69
|
UTSW |
7 |
85,064,739 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5200:Vmn2r69
|
UTSW |
7 |
85,055,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Vmn2r69
|
UTSW |
7 |
85,060,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5643:Vmn2r69
|
UTSW |
7 |
85,056,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5996:Vmn2r69
|
UTSW |
7 |
85,061,117 (GRCm39) |
splice site |
probably null |
|
|
R6083:Vmn2r69
|
UTSW |
7 |
85,055,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Vmn2r69
|
UTSW |
7 |
85,060,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6306:Vmn2r69
|
UTSW |
7 |
85,064,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6330:Vmn2r69
|
UTSW |
7 |
85,060,835 (GRCm39) |
missense |
probably benign |
|
|
R6380:Vmn2r69
|
UTSW |
7 |
85,061,067 (GRCm39) |
missense |
probably benign |
|
|
R6466:Vmn2r69
|
UTSW |
7 |
85,056,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6542:Vmn2r69
|
UTSW |
7 |
85,060,413 (GRCm39) |
nonsense |
probably null |
|
|
R6583:Vmn2r69
|
UTSW |
7 |
85,059,017 (GRCm39) |
missense |
probably benign |
|
|
R6623:Vmn2r69
|
UTSW |
7 |
85,056,309 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6709:Vmn2r69
|
UTSW |
7 |
85,061,069 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6732:Vmn2r69
|
UTSW |
7 |
85,060,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6741:Vmn2r69
|
UTSW |
7 |
85,061,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7070:Vmn2r69
|
UTSW |
7 |
85,060,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7234:Vmn2r69
|
UTSW |
7 |
85,056,315 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7323:Vmn2r69
|
UTSW |
7 |
85,060,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7427:Vmn2r69
|
UTSW |
7 |
85,060,467 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7428:Vmn2r69
|
UTSW |
7 |
85,060,467 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7453:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
frame shift |
probably null |
|
|
R7532:Vmn2r69
|
UTSW |
7 |
85,059,622 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7556:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
frame shift |
probably null |
|
|
R7562:Vmn2r69
|
UTSW |
7 |
85,056,420 (GRCm39) |
missense |
probably benign |
|
|
R7592:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
frame shift |
probably null |
|
|
R7708:Vmn2r69
|
UTSW |
7 |
85,061,755 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7803:Vmn2r69
|
UTSW |
7 |
85,056,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7960:Vmn2r69
|
UTSW |
7 |
85,055,973 (GRCm39) |
missense |
probably benign |
|
|
R7966:Vmn2r69
|
UTSW |
7 |
85,060,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8071:Vmn2r69
|
UTSW |
7 |
85,055,713 (GRCm39) |
nonsense |
probably null |
|
|
R8237:Vmn2r69
|
UTSW |
7 |
85,060,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8347:Vmn2r69
|
UTSW |
7 |
85,064,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8737:Vmn2r69
|
UTSW |
7 |
85,055,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Vmn2r69
|
UTSW |
7 |
85,064,883 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R8831:Vmn2r69
|
UTSW |
7 |
85,059,018 (GRCm39) |
nonsense |
probably null |
|
|
R8856:Vmn2r69
|
UTSW |
7 |
85,061,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8998:Vmn2r69
|
UTSW |
7 |
85,060,307 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8999:Vmn2r69
|
UTSW |
7 |
85,060,307 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9161:Vmn2r69
|
UTSW |
7 |
85,056,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9228:Vmn2r69
|
UTSW |
7 |
85,064,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9494:Vmn2r69
|
UTSW |
7 |
85,060,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Vmn2r69
|
UTSW |
7 |
85,056,084 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9541:Vmn2r69
|
UTSW |
7 |
85,056,209 (GRCm39) |
missense |
probably benign |
|
|
R9620:Vmn2r69
|
UTSW |
7 |
85,061,504 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Vmn2r69
|
UTSW |
7 |
85,055,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGTATCTCAGGTTGCTG -3'
(R):5'- CATCCTCTTCTGAGTGATAATGAAG -3'
Sequencing Primer
(F):5'- TTGTGACACACTAACCCAGATTC -3'
(R):5'- TGAAGAATTTCCTCATCTTTACCAG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation