Incidental Mutation 'IGL03358:Vmn1r81'
ID |
420005 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn1r81
|
Ensembl Gene |
ENSMUSG00000115027 |
Gene Name |
vomeronasal 1 receptor 81 |
Synonyms |
V1rg9 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
IGL03358
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
11993686-11994606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 11994232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 125
(R125S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086232]
[ENSMUST00000227080]
[ENSMUST00000227973]
[ENSMUST00000228482]
[ENSMUST00000228764]
|
AlphaFold |
A0A2I3BPG7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086232
AA Change: R125S
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000083409 Gene: ENSMUSG00000115027 AA Change: R125S
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
3 |
301 |
5.4e-12 |
PFAM |
Pfam:V1R
|
34 |
299 |
6.6e-31 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227080
AA Change: R125S
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227973
AA Change: R125S
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228482
AA Change: R125S
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228764
AA Change: R125S
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
4930590J08Rik |
A |
G |
6: 91,905,716 (GRCm39) |
N496D |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
Alad |
G |
A |
4: 62,428,844 (GRCm39) |
|
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
Pars2 |
A |
T |
4: 106,510,239 (GRCm39) |
H7L |
probably benign |
Het |
Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
Spg21 |
G |
A |
9: 65,387,698 (GRCm39) |
V164I |
probably benign |
Het |
Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
Tsr1 |
T |
C |
11: 74,794,824 (GRCm39) |
V493A |
probably benign |
Het |
Ube2u |
A |
G |
4: 100,404,472 (GRCm39) |
|
probably benign |
Het |
Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
Other mutations in Vmn1r81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02026:Vmn1r81
|
APN |
7 |
11,994,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02086:Vmn1r81
|
APN |
7 |
11,993,792 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02751:Vmn1r81
|
APN |
7 |
11,994,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02879:Vmn1r81
|
APN |
7 |
11,994,319 (GRCm39) |
missense |
probably benign |
0.20 |
PIT4305001:Vmn1r81
|
UTSW |
7 |
11,994,590 (GRCm39) |
missense |
probably benign |
0.01 |
R0359:Vmn1r81
|
UTSW |
7 |
11,993,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R1615:Vmn1r81
|
UTSW |
7 |
11,994,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Vmn1r81
|
UTSW |
7 |
11,994,589 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2967:Vmn1r81
|
UTSW |
7 |
11,993,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R2983:Vmn1r81
|
UTSW |
7 |
11,994,596 (GRCm39) |
missense |
probably benign |
0.02 |
R4549:Vmn1r81
|
UTSW |
7 |
11,993,749 (GRCm39) |
missense |
probably damaging |
0.99 |
R5099:Vmn1r81
|
UTSW |
7 |
11,994,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5326:Vmn1r81
|
UTSW |
7 |
11,994,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R5542:Vmn1r81
|
UTSW |
7 |
11,994,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R6010:Vmn1r81
|
UTSW |
7 |
11,994,349 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6630:Vmn1r81
|
UTSW |
7 |
11,994,584 (GRCm39) |
nonsense |
probably null |
|
R6724:Vmn1r81
|
UTSW |
7 |
11,994,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R6754:Vmn1r81
|
UTSW |
7 |
11,993,774 (GRCm39) |
missense |
probably damaging |
0.98 |
R8198:Vmn1r81
|
UTSW |
7 |
11,993,882 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9719:Vmn1r81
|
UTSW |
7 |
11,994,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R9790:Vmn1r81
|
UTSW |
7 |
11,994,113 (GRCm39) |
missense |
probably benign |
0.15 |
R9791:Vmn1r81
|
UTSW |
7 |
11,994,113 (GRCm39) |
missense |
probably benign |
0.15 |
|
Posted On |
2016-08-02 |