Incidental Mutation 'R3614:Vmn1r67'
| ID |
268373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r67
|
| Ensembl Gene |
ENSMUSG00000046716 |
| Gene Name |
vomeronasal 1 receptor 67 |
| Synonyms |
V1re10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3614 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
10180716-10181714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10181356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 207
(Y207H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055964]
[ENSMUST00000226237]
|
| AlphaFold |
G5E8C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055964
AA Change: Y207H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060746
Gene: ENSMUSG00000046716
AA Change: Y207H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
34 |
292 |
4.3e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226237
AA Change: Y146H
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,403,296 (GRCm39) |
Y1598C |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,449,702 (GRCm39) |
D444G |
probably damaging |
Het |
| Cd3g |
A |
G |
9: 44,891,587 (GRCm39) |
F11S |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,361,175 (GRCm39) |
T365A |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Golga3 |
C |
A |
5: 110,368,774 (GRCm39) |
Q1365K |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,581,345 (GRCm39) |
H601Q |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,177,798 (GRCm39) |
D499G |
probably damaging |
Het |
| Or2aj6 |
A |
G |
16: 19,443,515 (GRCm39) |
C112R |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
| Pigp |
T |
C |
16: 94,165,583 (GRCm39) |
D113G |
possibly damaging |
Het |
| Prex1 |
G |
A |
2: 166,451,701 (GRCm39) |
R256C |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,681,196 (GRCm39) |
V10E |
possibly damaging |
Het |
|
| Other mutations in Vmn1r67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01690:Vmn1r67
|
APN |
7 |
10,180,767 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02812:Vmn1r67
|
APN |
7 |
10,180,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03121:Vmn1r67
|
APN |
7 |
10,181,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03208:Vmn1r67
|
APN |
7 |
10,181,025 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4142001:Vmn1r67
|
UTSW |
7 |
10,180,877 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0048:Vmn1r67
|
UTSW |
7 |
10,180,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Vmn1r67
|
UTSW |
7 |
10,181,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Vmn1r67
|
UTSW |
7 |
10,181,597 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1608:Vmn1r67
|
UTSW |
7 |
10,180,907 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2284:Vmn1r67
|
UTSW |
7 |
10,181,600 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4399:Vmn1r67
|
UTSW |
7 |
10,181,476 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4542:Vmn1r67
|
UTSW |
7 |
10,181,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5216:Vmn1r67
|
UTSW |
7 |
10,181,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Vmn1r67
|
UTSW |
7 |
10,181,315 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5837:Vmn1r67
|
UTSW |
7 |
10,180,949 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6526:Vmn1r67
|
UTSW |
7 |
10,181,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6735:Vmn1r67
|
UTSW |
7 |
10,181,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Vmn1r67
|
UTSW |
7 |
10,180,840 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7086:Vmn1r67
|
UTSW |
7 |
10,181,044 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7227:Vmn1r67
|
UTSW |
7 |
10,181,475 (GRCm39) |
nonsense |
probably null |
|
|
R7594:Vmn1r67
|
UTSW |
7 |
10,181,342 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7608:Vmn1r67
|
UTSW |
7 |
10,181,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7797:Vmn1r67
|
UTSW |
7 |
10,180,903 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8681:Vmn1r67
|
UTSW |
7 |
10,181,128 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTGGGTGCTGCATTTTC -3'
(R):5'- TGTTCACCAGCCACCAATTG -3'
Sequencing Primer
(F):5'- CTTTGCATACATACTTGTCAAAAGG -3'
(R):5'- CCAATTGTGATTATGCAAAAGAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation