Incidental Mutation 'R5531:Vmn2r76'
| ID |
433697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r76
|
| Ensembl Gene |
ENSMUSG00000091239 |
| Gene Name |
vomeronasal 2, receptor 76 |
| Synonyms |
|
| MMRRC Submission |
043089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R5531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85874414-85895409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85874657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 773
(D773E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165771]
|
| AlphaFold |
E9Q3F5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165771
AA Change: D773E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127309
Gene: ENSMUSG00000091239
AA Change: D773E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
78 |
470 |
1.2e-29 |
PFAM |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
Pfam:NCD3G
|
513 |
565 |
3.7e-22 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
1.4e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.5%
- 10x: 95.6%
- 20x: 92.2%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,342,767 (GRCm39) |
F878L |
possibly damaging |
Het |
| Acr |
T |
A |
15: 89,458,146 (GRCm39) |
Y276N |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,023,814 (GRCm39) |
Y388* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,835 (GRCm39) |
T114I |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,536 (GRCm39) |
M168T |
probably benign |
Het |
| Bard1 |
A |
C |
1: 71,085,880 (GRCm39) |
C608W |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,072 (GRCm39) |
S647P |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,471,566 (GRCm39) |
R907G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,355,743 (GRCm39) |
V1830I |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,754,913 (GRCm39) |
N221S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,680,330 (GRCm39) |
E381G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,907 (GRCm39) |
S3744P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,351,513 (GRCm39) |
V914A |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,753,482 (GRCm39) |
C492Y |
probably damaging |
Het |
| G930045G22Rik |
C |
A |
6: 50,824,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21103 |
A |
T |
14: 17,484,855 (GRCm39) |
I63K |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,619 (GRCm39) |
V612A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,572 (GRCm39) |
S33P |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,884,228 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,619,539 (GRCm39) |
C1192S |
probably damaging |
Het |
| Hsd11b1 |
CGG |
CG |
1: 192,922,557 (GRCm39) |
|
probably null |
Het |
| Ifi214 |
A |
G |
1: 173,352,686 (GRCm39) |
Y248H |
probably damaging |
Het |
| Igf2bp2 |
T |
G |
16: 21,907,835 (GRCm39) |
I89L |
probably damaging |
Het |
| Il2ra |
A |
T |
2: 11,681,703 (GRCm39) |
T103S |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,276,056 (GRCm39) |
M407L |
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,567,946 (GRCm39) |
K671N |
probably benign |
Het |
| Lca5 |
C |
T |
9: 83,280,648 (GRCm39) |
S384N |
probably benign |
Het |
| Lce1l |
G |
T |
3: 92,757,804 (GRCm39) |
P18H |
unknown |
Het |
| Lrrc8d |
T |
C |
5: 105,945,536 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,195,489 (GRCm39) |
N223S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,873,768 (GRCm39) |
F784Y |
possibly damaging |
Het |
| Ncf4 |
T |
G |
15: 78,144,988 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,303,746 (GRCm39) |
M1362L |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,003 (GRCm39) |
T282A |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,451 (GRCm39) |
Y220C |
probably benign |
Het |
| Or6c8b |
G |
C |
10: 128,882,433 (GRCm39) |
F166L |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,115,593 (GRCm39) |
R543G |
probably damaging |
Het |
| Ptprd |
A |
C |
4: 75,977,904 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,210,497 (GRCm39) |
S969G |
possibly damaging |
Het |
| Sgk2 |
T |
C |
2: 162,836,624 (GRCm39) |
F60S |
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,781,981 (GRCm39) |
Y119* |
probably null |
Het |
| Siglech |
A |
T |
7: 55,418,413 (GRCm39) |
K31* |
probably null |
Het |
| Slc40a1 |
A |
G |
1: 45,951,498 (GRCm39) |
Y220H |
probably damaging |
Het |
| Smurf2 |
G |
A |
11: 106,743,389 (GRCm39) |
T219M |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,526 (GRCm39) |
K156R |
possibly damaging |
Het |
| Spp1 |
T |
G |
5: 104,588,424 (GRCm39) |
D276E |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,078 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
G |
A |
10: 9,638,668 (GRCm39) |
Q1044* |
probably null |
Het |
| Sv2c |
T |
A |
13: 96,097,886 (GRCm39) |
T696S |
probably damaging |
Het |
| Tubgcp2 |
A |
C |
7: 139,584,937 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,278,973 (GRCm39) |
P91S |
probably damaging |
Het |
| Xirp2 |
C |
G |
2: 67,345,646 (GRCm39) |
S2629C |
probably benign |
Het |
| Zbtb20 |
C |
A |
16: 43,431,230 (GRCm39) |
C580* |
probably null |
Het |
| Zfp957 |
T |
A |
14: 79,450,622 (GRCm39) |
Q392H |
unknown |
Het |
| Zfyve19 |
C |
T |
2: 119,042,427 (GRCm39) |
T178M |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,906,128 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Vmn2r76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Vmn2r76
|
APN |
7 |
85,877,925 (GRCm39) |
missense |
probably benign |
|
|
IGL01374:Vmn2r76
|
APN |
7 |
85,874,857 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01419:Vmn2r76
|
APN |
7 |
85,874,910 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01627:Vmn2r76
|
APN |
7 |
85,874,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Vmn2r76
|
APN |
7 |
85,879,406 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01957:Vmn2r76
|
APN |
7 |
85,877,925 (GRCm39) |
missense |
probably benign |
|
|
IGL02214:Vmn2r76
|
APN |
7 |
85,879,138 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02489:Vmn2r76
|
APN |
7 |
85,878,071 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02543:Vmn2r76
|
APN |
7 |
85,879,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02579:Vmn2r76
|
APN |
7 |
85,877,961 (GRCm39) |
nonsense |
probably null |
|
|
IGL02598:Vmn2r76
|
APN |
7 |
85,877,879 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02720:Vmn2r76
|
APN |
7 |
85,874,914 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02745:Vmn2r76
|
APN |
7 |
85,879,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03393:Vmn2r76
|
APN |
7 |
85,879,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Vmn2r76
|
UTSW |
7 |
85,874,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Vmn2r76
|
UTSW |
7 |
85,877,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0528:Vmn2r76
|
UTSW |
7 |
85,879,506 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0601:Vmn2r76
|
UTSW |
7 |
85,875,323 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0662:Vmn2r76
|
UTSW |
7 |
85,879,578 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0883:Vmn2r76
|
UTSW |
7 |
85,877,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1532:Vmn2r76
|
UTSW |
7 |
85,879,454 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1694:Vmn2r76
|
UTSW |
7 |
85,879,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1696:Vmn2r76
|
UTSW |
7 |
85,880,464 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2135:Vmn2r76
|
UTSW |
7 |
85,880,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2151:Vmn2r76
|
UTSW |
7 |
85,879,692 (GRCm39) |
missense |
probably benign |
|
|
R2181:Vmn2r76
|
UTSW |
7 |
85,874,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2268:Vmn2r76
|
UTSW |
7 |
85,879,707 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2877:Vmn2r76
|
UTSW |
7 |
85,875,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3155:Vmn2r76
|
UTSW |
7 |
85,874,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Vmn2r76
|
UTSW |
7 |
85,874,763 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3799:Vmn2r76
|
UTSW |
7 |
85,875,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3825:Vmn2r76
|
UTSW |
7 |
85,880,415 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4058:Vmn2r76
|
UTSW |
7 |
85,879,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4237:Vmn2r76
|
UTSW |
7 |
85,879,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4404:Vmn2r76
|
UTSW |
7 |
85,877,511 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4796:Vmn2r76
|
UTSW |
7 |
85,879,652 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4838:Vmn2r76
|
UTSW |
7 |
85,874,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Vmn2r76
|
UTSW |
7 |
85,877,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Vmn2r76
|
UTSW |
7 |
85,875,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Vmn2r76
|
UTSW |
7 |
85,874,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Vmn2r76
|
UTSW |
7 |
85,875,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Vmn2r76
|
UTSW |
7 |
85,875,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5664:Vmn2r76
|
UTSW |
7 |
85,895,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5818:Vmn2r76
|
UTSW |
7 |
85,879,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6093:Vmn2r76
|
UTSW |
7 |
85,877,469 (GRCm39) |
nonsense |
probably null |
|
|
R6651:Vmn2r76
|
UTSW |
7 |
85,878,059 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6741:Vmn2r76
|
UTSW |
7 |
85,879,560 (GRCm39) |
missense |
probably benign |
|
|
R6750:Vmn2r76
|
UTSW |
7 |
85,875,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Vmn2r76
|
UTSW |
7 |
85,874,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7136:Vmn2r76
|
UTSW |
7 |
85,877,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7524:Vmn2r76
|
UTSW |
7 |
85,879,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Vmn2r76
|
UTSW |
7 |
85,874,577 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7611:Vmn2r76
|
UTSW |
7 |
85,879,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7833:Vmn2r76
|
UTSW |
7 |
85,877,892 (GRCm39) |
missense |
probably benign |
|
|
R8002:Vmn2r76
|
UTSW |
7 |
85,879,271 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8021:Vmn2r76
|
UTSW |
7 |
85,874,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8023:Vmn2r76
|
UTSW |
7 |
85,879,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8250:Vmn2r76
|
UTSW |
7 |
85,875,231 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8428:Vmn2r76
|
UTSW |
7 |
85,874,479 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8874:Vmn2r76
|
UTSW |
7 |
85,877,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Vmn2r76
|
UTSW |
7 |
85,879,170 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9357:Vmn2r76
|
UTSW |
7 |
85,880,428 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Vmn2r76
|
UTSW |
7 |
85,895,271 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATCATTAGAAGCAGGAATGTGGG -3'
(R):5'- AATCTGGCTGGGAACTTCTCC -3'
Sequencing Primer
(F):5'- AGCATTTTTGTGCCTAAACTTGTG -3'
(R):5'- GGAACTTCTCCACCATTTGTTGATAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation