Incidental Mutation 'IGL01509:Vmn1r82'
ID |
89142 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn1r82
|
Ensembl Gene |
ENSMUSG00000058132 |
Gene Name |
vomeronasal 1 receptor 82 |
Synonyms |
V1rg12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL01509
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
12038732-12039646 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12039096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 123
(H123L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072801]
[ENSMUST00000191002]
[ENSMUST00000227672]
|
AlphaFold |
A0A087WRV1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072801
AA Change: H122L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000072580 Gene: ENSMUSG00000058132 AA Change: H122L
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
35 |
295 |
1.3e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191002
AA Change: H123L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140782 Gene: ENSMUSG00000058132 AA Change: H123L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:V1R
|
36 |
296 |
8.4e-27 |
PFAM |
Pfam:7tm_1
|
39 |
290 |
2e-5 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227672
AA Change: H5L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
A |
9: 99,495,819 (GRCm39) |
I85N |
probably benign |
Het |
Bbof1 |
T |
A |
12: 84,457,859 (GRCm39) |
N41K |
possibly damaging |
Het |
Cdh10 |
A |
G |
15: 18,986,884 (GRCm39) |
K372E |
possibly damaging |
Het |
Clmn |
T |
A |
12: 104,747,162 (GRCm39) |
Q795L |
probably benign |
Het |
Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
Enox1 |
T |
C |
14: 77,936,713 (GRCm39) |
S583P |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,485,382 (GRCm39) |
G4407S |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,313,142 (GRCm39) |
M109L |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,318,711 (GRCm39) |
M455T |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,617,332 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
A |
G |
7: 71,909,017 (GRCm39) |
S99P |
probably benign |
Het |
Mrgprb2 |
G |
A |
7: 48,202,674 (GRCm39) |
T17M |
possibly damaging |
Het |
Ogdhl |
T |
A |
14: 32,059,716 (GRCm39) |
M410K |
probably damaging |
Het |
Pard3b |
A |
T |
1: 62,200,407 (GRCm39) |
R315S |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,117,645 (GRCm39) |
Q625R |
probably benign |
Het |
Plxna3 |
A |
G |
X: 73,376,039 (GRCm39) |
Q355R |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,069,208 (GRCm39) |
F907I |
possibly damaging |
Het |
Slc16a4 |
A |
C |
3: 107,218,750 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
C |
14: 27,181,731 (GRCm39) |
|
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 64,010,466 (GRCm39) |
I568T |
probably benign |
Het |
Zfp7 |
G |
A |
15: 76,765,333 (GRCm39) |
V9M |
probably damaging |
Het |
Zfp759 |
A |
G |
13: 67,287,658 (GRCm39) |
N403S |
probably benign |
Het |
|
Other mutations in Vmn1r82 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01955:Vmn1r82
|
APN |
7 |
12,039,650 (GRCm39) |
splice site |
probably null |
|
IGL02267:Vmn1r82
|
APN |
7 |
12,039,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0336:Vmn1r82
|
UTSW |
7 |
12,039,248 (GRCm39) |
missense |
probably benign |
0.26 |
R2373:Vmn1r82
|
UTSW |
7 |
12,038,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R2849:Vmn1r82
|
UTSW |
7 |
12,039,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R4621:Vmn1r82
|
UTSW |
7 |
12,039,263 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5628:Vmn1r82
|
UTSW |
7 |
12,039,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Vmn1r82
|
UTSW |
7 |
12,039,012 (GRCm39) |
missense |
probably damaging |
0.97 |
R6263:Vmn1r82
|
UTSW |
7 |
12,039,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R6877:Vmn1r82
|
UTSW |
7 |
12,039,290 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9551:Vmn1r82
|
UTSW |
7 |
12,039,600 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9552:Vmn1r82
|
UTSW |
7 |
12,039,600 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9792:Vmn1r82
|
UTSW |
7 |
12,039,083 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2013-12-03 |