Incidental Mutation 'IGL00328:Vmn1r2'
| ID |
6723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r2
|
| Ensembl Gene |
ENSMUSG00000115072 |
| Gene Name |
vomeronasal 1 receptor 2 |
| Synonyms |
Gm11776 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
IGL00328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
3172083-3173003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3172807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 242
(L242Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105160]
[ENSMUST00000226198]
|
| AlphaFold |
A2AMT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105160
AA Change: L242Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100791
Gene: ENSMUSG00000115072
AA Change: L242Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
302 |
2.7e-8 |
PFAM |
|
Pfam:V1R
|
30 |
298 |
6.3e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226198
AA Change: L242Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,809 (GRCm39) |
V378I |
possibly damaging |
Het |
| Acad12 |
C |
T |
5: 121,742,316 (GRCm39) |
|
probably benign |
Het |
| Bap1 |
T |
G |
14: 30,975,526 (GRCm39) |
S123R |
probably damaging |
Het |
| Cers2 |
A |
T |
3: 95,227,997 (GRCm39) |
K73I |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,635 (GRCm39) |
V240A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,215,378 (GRCm39) |
I419T |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,043,976 (GRCm39) |
R540G |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,424 (GRCm39) |
S2203R |
probably benign |
Het |
| Ptrh1 |
G |
T |
2: 32,666,353 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,393 (GRCm39) |
E67G |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,344 (GRCm39) |
L165P |
probably benign |
Het |
|
| Other mutations in Vmn1r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4151001:Vmn1r2
|
UTSW |
4 |
3,172,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4354001:Vmn1r2
|
UTSW |
4 |
3,172,162 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1836:Vmn1r2
|
UTSW |
4 |
3,172,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Vmn1r2
|
UTSW |
4 |
3,172,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2319:Vmn1r2
|
UTSW |
4 |
3,172,083 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R3414:Vmn1r2
|
UTSW |
4 |
3,172,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Vmn1r2
|
UTSW |
4 |
3,172,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Vmn1r2
|
UTSW |
4 |
3,172,261 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7084:Vmn1r2
|
UTSW |
4 |
3,172,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7661:Vmn1r2
|
UTSW |
4 |
3,172,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9134:Vmn1r2
|
UTSW |
4 |
3,172,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Vmn1r2
|
UTSW |
4 |
3,172,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9614:Vmn1r2
|
UTSW |
4 |
3,172,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation