Incidental Mutation 'R2320:Vmn1r38'
| ID |
245607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r38
|
| Ensembl Gene |
ENSMUSG00000115170 |
| Gene Name |
vomeronasal 1 receptor 38 |
| Synonyms |
V1rc13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R2320 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
66753206-66754114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66753534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 194
(T194I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176121]
[ENSMUST00000226457]
[ENSMUST00000227493]
[ENSMUST00000227694]
|
| AlphaFold |
Q8R2E1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176121
AA Change: T194I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135117
Gene: ENSMUSG00000093632
AA Change: T194I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.7e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226457
AA Change: T194I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227493
AA Change: T194I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227694
AA Change: T194I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc10 |
T |
C |
8: 80,501,708 (GRCm39) |
Y159H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,407,840 (GRCm39) |
N2222K |
unknown |
Het |
| Cpxm1 |
A |
G |
2: 130,236,131 (GRCm39) |
Y344H |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,314,889 (GRCm39) |
S679P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,333,288 (GRCm39) |
T2376A |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,755,373 (GRCm39) |
M227K |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,560,868 (GRCm39) |
I700V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,637 (GRCm39) |
V9E |
possibly damaging |
Het |
| Pik3c2b |
A |
T |
1: 133,031,151 (GRCm39) |
S1486C |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,159,742 (GRCm39) |
I507T |
possibly damaging |
Het |
| Rpl4 |
C |
T |
9: 64,082,881 (GRCm39) |
R100C |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,359,022 (GRCm39) |
|
probably null |
Het |
| Serhl |
A |
G |
15: 82,986,073 (GRCm39) |
D2G |
probably damaging |
Het |
| Thbd |
T |
C |
2: 148,248,566 (GRCm39) |
E434G |
probably damaging |
Het |
| Trim17 |
T |
C |
11: 58,857,624 (GRCm39) |
Y152H |
probably benign |
Het |
| Wdhd1 |
C |
T |
14: 47,511,485 (GRCm39) |
V76I |
probably benign |
Het |
| Zfp709 |
T |
A |
8: 72,641,136 (GRCm39) |
V11E |
probably damaging |
Het |
|
| Other mutations in Vmn1r38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Vmn1r38
|
APN |
6 |
66,753,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02471:Vmn1r38
|
APN |
6 |
66,753,751 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0483:Vmn1r38
|
UTSW |
6 |
66,753,979 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0890:Vmn1r38
|
UTSW |
6 |
66,753,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1242:Vmn1r38
|
UTSW |
6 |
66,753,344 (GRCm39) |
nonsense |
probably null |
|
|
R1557:Vmn1r38
|
UTSW |
6 |
66,753,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2266:Vmn1r38
|
UTSW |
6 |
66,753,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2568:Vmn1r38
|
UTSW |
6 |
66,753,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3104:Vmn1r38
|
UTSW |
6 |
66,753,430 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3552:Vmn1r38
|
UTSW |
6 |
66,753,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3792:Vmn1r38
|
UTSW |
6 |
66,753,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4061:Vmn1r38
|
UTSW |
6 |
66,753,832 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4532:Vmn1r38
|
UTSW |
6 |
66,754,016 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5299:Vmn1r38
|
UTSW |
6 |
66,753,682 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7173:Vmn1r38
|
UTSW |
6 |
66,753,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8044:Vmn1r38
|
UTSW |
6 |
66,753,516 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8935:Vmn1r38
|
UTSW |
6 |
66,753,979 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9144:Vmn1r38
|
UTSW |
6 |
66,753,612 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0022:Vmn1r38
|
UTSW |
6 |
66,754,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACAGTAAGCATGACTGGGTC -3'
(R):5'- GATCAGTCCCAACTCCGCTTTG -3'
Sequencing Primer
(F):5'- GGGTCATACATCCATAAAAAGACTG -3'
(R):5'- CTCCGCTTTGTTGGCAAAATTTAAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation