Incidental Mutation 'R4710:Vmn2r53'
| ID |
353206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
042019-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4710 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12335129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 177
(H177L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170412
AA Change: H177L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: H177L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,618,262 (GRCm39) |
Q185L |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,283,163 (GRCm39) |
I2243N |
possibly damaging |
Het |
| Adamts18 |
A |
G |
8: 114,433,558 (GRCm39) |
S1059P |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,294,797 (GRCm39) |
K1002M |
probably damaging |
Het |
| Ap1b1 |
A |
G |
11: 4,981,664 (GRCm39) |
Y524C |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
| Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
| Cntn2 |
T |
A |
1: 132,455,963 (GRCm39) |
H185L |
possibly damaging |
Het |
| Col4a2 |
C |
A |
8: 11,459,462 (GRCm39) |
P299Q |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,679,093 (GRCm39) |
N106S |
probably benign |
Het |
| Coro7 |
T |
G |
16: 4,452,797 (GRCm39) |
|
probably benign |
Het |
| Ctf1 |
C |
A |
7: 127,316,252 (GRCm39) |
P66Q |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,441,898 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
A |
T |
7: 4,529,493 (GRCm39) |
L317Q |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,368,903 (GRCm39) |
L1667P |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,190,659 (GRCm39) |
I399T |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Erg |
T |
C |
16: 95,190,893 (GRCm39) |
D90G |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
| Gimd1 |
T |
C |
3: 132,340,609 (GRCm39) |
S42P |
possibly damaging |
Het |
| Gm5526 |
T |
A |
1: 45,896,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl2 |
T |
A |
4: 124,947,252 (GRCm39) |
S625T |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,562,278 (GRCm39) |
E175G |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,270,547 (GRCm39) |
P926S |
probably damaging |
Het |
| Ifi213 |
G |
A |
1: 173,394,738 (GRCm39) |
|
probably benign |
Het |
| Inhba |
T |
C |
13: 16,201,068 (GRCm39) |
V210A |
probably benign |
Het |
| Kansl1l |
G |
A |
1: 66,840,655 (GRCm39) |
A215V |
possibly damaging |
Het |
| Kcnk1 |
T |
A |
8: 126,756,267 (GRCm39) |
V263D |
probably damaging |
Het |
| Kcnk9 |
A |
G |
15: 72,384,824 (GRCm39) |
I118T |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,332,582 (GRCm39) |
I283V |
probably benign |
Het |
| Larp7-ps |
T |
C |
4: 92,079,212 (GRCm39) |
E203G |
possibly damaging |
Het |
| Lias |
A |
G |
5: 65,555,070 (GRCm39) |
D88G |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,584,130 (GRCm39) |
V297M |
possibly damaging |
Het |
| Maea |
C |
T |
5: 33,526,034 (GRCm39) |
R237C |
probably benign |
Het |
| Mdfi |
T |
A |
17: 48,135,511 (GRCm39) |
N73I |
probably damaging |
Het |
| Mphosph6 |
T |
A |
8: 118,528,641 (GRCm39) |
M1L |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,926,517 (GRCm39) |
I486N |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,466,101 (GRCm39) |
P769L |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,262,594 (GRCm39) |
|
probably null |
Het |
| Ndel1 |
A |
G |
11: 68,736,163 (GRCm39) |
Y26H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,150,610 (GRCm39) |
R2473G |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,082,384 (GRCm39) |
D34E |
possibly damaging |
Het |
| Or2t46 |
A |
T |
11: 58,472,548 (GRCm39) |
I293F |
probably damaging |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or5h19 |
T |
A |
16: 58,856,638 (GRCm39) |
H154L |
possibly damaging |
Het |
| Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
| Prkn |
A |
C |
17: 12,073,720 (GRCm39) |
Q346P |
possibly damaging |
Het |
| Prrc2b |
T |
A |
2: 32,083,869 (GRCm39) |
S236R |
possibly damaging |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,340,657 (GRCm39) |
D491G |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,146,411 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,596,646 (GRCm39) |
L2483F |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,403,750 (GRCm39) |
N624S |
probably benign |
Het |
| Sgms1 |
C |
T |
19: 32,137,537 (GRCm39) |
V10M |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,898,629 (GRCm39) |
N636S |
probably benign |
Het |
| Slc25a48 |
C |
T |
13: 56,611,379 (GRCm39) |
T162I |
probably damaging |
Het |
| Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,053 (GRCm39) |
L850P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sox18 |
A |
G |
2: 181,312,688 (GRCm39) |
Y148H |
probably damaging |
Het |
| Stk-ps1 |
A |
G |
17: 36,708,562 (GRCm39) |
|
noncoding transcript |
Het |
| Tas2r104 |
T |
A |
6: 131,662,407 (GRCm39) |
T101S |
probably damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,317,201 (GRCm39) |
|
probably null |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,131 (GRCm39) |
D554E |
probably benign |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably 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 |
|
R0109:Vmn2r53
|
UTSW |
7 |
12,315,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CTTGCAACACCTGGGAAATG -3'
(R):5'- TTCATTCGGACCCTGACTAGTG -3'
Sequencing Primer
(F):5'- CACCTGGGAAATGCCTGGTATG -3'
(R):5'- TGACTAGTGACCTAACATGCTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation