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 |