Incidental Mutation 'R0071:Vmn2r80'
| ID |
16862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r80
|
| Ensembl Gene |
ENSMUSG00000091888 |
| Gene Name |
vomeronasal 2, receptor 80 |
| Synonyms |
EG624765 |
| MMRRC Submission |
038362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0071 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79007566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 514
(T514I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
| AlphaFold |
E9Q1L0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165834
AA Change: T514I
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132299
Gene: ENSMUSG00000091888
AA Change: T514I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
1.5e-36 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
7.9e-22 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.2e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 88.2%
- 3x: 84.4%
- 10x: 70.8%
- 20x: 43.5%
|
| Validation Efficiency |
93% (94/101) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,211,050 (GRCm39) |
C931* |
probably null |
Het |
| Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
| Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
| Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
| Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
T |
C |
1: 134,113,017 (GRCm39) |
Y150H |
probably benign |
Het |
| Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,994 (GRCm39) |
N144Y |
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
| Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
| Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
| Limk1 |
G |
T |
5: 134,690,245 (GRCm39) |
Q104K |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
| Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
| Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
| Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
| Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
| Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
| Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
| Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
| Spsb3 |
A |
G |
17: 25,106,878 (GRCm39) |
D184G |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
| Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
| Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
| Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
| Ube3b |
G |
A |
5: 114,557,558 (GRCm39) |
G1014D |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,209,854 (GRCm39) |
V422A |
possibly damaging |
Het |
|
| Other mutations in Vmn2r80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Vmn2r80
|
APN |
10 |
79,030,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Vmn2r80
|
APN |
10 |
79,030,081 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01611:Vmn2r80
|
APN |
10 |
79,007,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Vmn2r80
|
APN |
10 |
79,007,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01877:Vmn2r80
|
APN |
10 |
79,007,334 (GRCm39) |
splice site |
probably null |
|
|
IGL02673:Vmn2r80
|
APN |
10 |
79,005,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02756:Vmn2r80
|
APN |
10 |
79,030,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Vmn2r80
|
APN |
10 |
79,007,439 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03382:Vmn2r80
|
APN |
10 |
79,005,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0129:Vmn2r80
|
UTSW |
10 |
79,005,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Vmn2r80
|
UTSW |
10 |
78,984,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0567:Vmn2r80
|
UTSW |
10 |
79,030,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1510:Vmn2r80
|
UTSW |
10 |
79,005,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1519:Vmn2r80
|
UTSW |
10 |
79,030,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Vmn2r80
|
UTSW |
10 |
79,030,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Vmn2r80
|
UTSW |
10 |
79,030,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Vmn2r80
|
UTSW |
10 |
79,030,223 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2116:Vmn2r80
|
UTSW |
10 |
79,030,558 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2237:Vmn2r80
|
UTSW |
10 |
79,004,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Vmn2r80
|
UTSW |
10 |
79,007,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Vmn2r80
|
UTSW |
10 |
78,984,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3408:Vmn2r80
|
UTSW |
10 |
79,004,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4502:Vmn2r80
|
UTSW |
10 |
78,984,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Vmn2r80
|
UTSW |
10 |
79,030,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4851:Vmn2r80
|
UTSW |
10 |
79,030,156 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4947:Vmn2r80
|
UTSW |
10 |
79,030,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Vmn2r80
|
UTSW |
10 |
79,030,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5217:Vmn2r80
|
UTSW |
10 |
79,004,980 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5226:Vmn2r80
|
UTSW |
10 |
79,029,874 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5512:Vmn2r80
|
UTSW |
10 |
79,004,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5618:Vmn2r80
|
UTSW |
10 |
78,984,755 (GRCm39) |
missense |
probably benign |
|
|
R5959:Vmn2r80
|
UTSW |
10 |
79,005,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6104:Vmn2r80
|
UTSW |
10 |
78,984,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Vmn2r80
|
UTSW |
10 |
79,017,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Vmn2r80
|
UTSW |
10 |
79,030,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6508:Vmn2r80
|
UTSW |
10 |
79,030,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6843:Vmn2r80
|
UTSW |
10 |
79,005,502 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6894:Vmn2r80
|
UTSW |
10 |
79,005,438 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7048:Vmn2r80
|
UTSW |
10 |
79,030,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Vmn2r80
|
UTSW |
10 |
79,030,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Vmn2r80
|
UTSW |
10 |
79,005,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7559:Vmn2r80
|
UTSW |
10 |
79,030,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7622:Vmn2r80
|
UTSW |
10 |
79,030,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Vmn2r80
|
UTSW |
10 |
78,984,711 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8207:Vmn2r80
|
UTSW |
10 |
79,030,150 (GRCm39) |
nonsense |
probably null |
|
|
R8330:Vmn2r80
|
UTSW |
10 |
79,007,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Vmn2r80
|
UTSW |
10 |
78,984,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Vmn2r80
|
UTSW |
10 |
78,984,710 (GRCm39) |
missense |
probably benign |
|
|
R8688:Vmn2r80
|
UTSW |
10 |
79,004,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Vmn2r80
|
UTSW |
10 |
79,017,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Vmn2r80
|
UTSW |
10 |
79,005,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9125:Vmn2r80
|
UTSW |
10 |
78,984,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9147:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9148:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9187:Vmn2r80
|
UTSW |
10 |
79,030,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9218:Vmn2r80
|
UTSW |
10 |
79,030,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9553:Vmn2r80
|
UTSW |
10 |
78,984,743 (GRCm39) |
missense |
probably benign |
|
|
R9612:Vmn2r80
|
UTSW |
10 |
79,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Vmn2r80
|
UTSW |
10 |
78,984,672 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9769:Vmn2r80
|
UTSW |
10 |
79,005,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,232 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation