Incidental Mutation 'IGL02543:Vmn2r76'
ID |
298278 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r76
|
Ensembl Gene |
ENSMUSG00000091239 |
Gene Name |
vomeronasal 2, receptor 76 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
IGL02543
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
85874414-85895409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85879356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 315
(S315P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127309
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165771]
|
AlphaFold |
E9Q3F5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165771
AA Change: S315P
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000127309 Gene: ENSMUSG00000091239 AA Change: S315P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
T |
19: 31,895,495 (GRCm39) |
A193S |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,006,627 (GRCm39) |
T1069A |
probably benign |
Het |
Arg2 |
A |
T |
12: 79,197,533 (GRCm39) |
I184F |
probably benign |
Het |
Asb18 |
G |
A |
1: 89,942,113 (GRCm39) |
P63S |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,883,634 (GRCm39) |
H85R |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,291,413 (GRCm39) |
|
probably null |
Het |
Cog2 |
A |
G |
8: 125,256,698 (GRCm39) |
N148S |
probably benign |
Het |
Csgalnact1 |
T |
C |
8: 68,913,720 (GRCm39) |
T162A |
probably damaging |
Het |
Ddi1 |
C |
T |
9: 6,266,183 (GRCm39) |
G62D |
possibly damaging |
Het |
Dhx33 |
T |
C |
11: 70,878,066 (GRCm39) |
Y435C |
probably damaging |
Het |
Dsc3 |
A |
T |
18: 20,098,885 (GRCm39) |
C765S |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,722,529 (GRCm39) |
D362E |
probably benign |
Het |
Gm28040 |
A |
T |
1: 133,247,069 (GRCm39) |
I26F |
possibly damaging |
Het |
Gm28778 |
T |
C |
1: 53,338,202 (GRCm39) |
M22T |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,799,303 (GRCm39) |
E98G |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,680,436 (GRCm39) |
I968T |
possibly damaging |
Het |
Hlx |
T |
G |
1: 184,462,948 (GRCm39) |
S235R |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,933,867 (GRCm39) |
|
probably benign |
Het |
Kdr |
A |
G |
5: 76,125,607 (GRCm39) |
|
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,166,685 (GRCm39) |
E435G |
probably damaging |
Het |
L3mbtl4 |
T |
C |
17: 68,768,607 (GRCm39) |
|
probably benign |
Het |
Large1 |
T |
A |
8: 73,775,042 (GRCm39) |
M223L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,760,413 (GRCm39) |
K2838E |
possibly damaging |
Het |
Ncan |
T |
C |
8: 70,561,221 (GRCm39) |
D582G |
probably benign |
Het |
Nedd9 |
T |
C |
13: 41,470,211 (GRCm39) |
D314G |
probably damaging |
Het |
Nip7 |
T |
C |
8: 107,784,825 (GRCm39) |
|
probably benign |
Het |
Or10j27 |
T |
G |
1: 172,957,901 (GRCm39) |
K294N |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,389,710 (GRCm39) |
C246S |
possibly damaging |
Het |
Or7a42 |
C |
A |
10: 78,791,773 (GRCm39) |
H245N |
probably damaging |
Het |
P3h1 |
T |
C |
4: 119,095,053 (GRCm39) |
|
probably benign |
Het |
Pcp4l1 |
C |
T |
1: 171,003,133 (GRCm39) |
|
probably benign |
Het |
Plekhm2 |
C |
T |
4: 141,369,330 (GRCm39) |
G118D |
probably benign |
Het |
Prkg1 |
T |
C |
19: 30,602,134 (GRCm39) |
D374G |
possibly damaging |
Het |
Ptcd1 |
A |
G |
5: 145,091,497 (GRCm39) |
L534P |
possibly damaging |
Het |
Rnf123 |
A |
G |
9: 107,943,547 (GRCm39) |
S563P |
probably damaging |
Het |
Scart1 |
A |
G |
7: 139,800,491 (GRCm39) |
M91V |
probably benign |
Het |
Sdk2 |
A |
T |
11: 113,759,747 (GRCm39) |
I418N |
possibly damaging |
Het |
Slc26a4 |
A |
G |
12: 31,578,688 (GRCm39) |
I655T |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,993,618 (GRCm39) |
K524R |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,123,372 (GRCm39) |
A135V |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,751,991 (GRCm39) |
W942G |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 130,092,840 (GRCm39) |
V1247I |
probably benign |
Het |
Treml1 |
A |
G |
17: 48,667,459 (GRCm39) |
T115A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,540,306 (GRCm39) |
T34227A |
probably benign |
Het |
Ugt2b38 |
T |
A |
5: 87,571,342 (GRCm39) |
D230V |
probably benign |
Het |
Vmn1r203 |
G |
A |
13: 22,709,074 (GRCm39) |
G285D |
probably damaging |
Het |
Vmn2r98 |
T |
G |
17: 19,286,083 (GRCm39) |
S194A |
probably benign |
Het |
Wdr1 |
G |
A |
5: 38,703,165 (GRCm39) |
S137F |
probably damaging |
Het |
Wnt7b |
C |
T |
15: 85,443,097 (GRCm39) |
|
probably benign |
Het |
Zfp668 |
A |
T |
7: 127,467,494 (GRCm39) |
C27* |
probably null |
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 |
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 |
R5531:Vmn2r76
|
UTSW |
7 |
85,874,657 (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 |
|
Posted On |
2015-04-16 |