Incidental Mutation 'R8704:Vmn1r195'
| ID |
669205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r195
|
| Ensembl Gene |
ENSMUSG00000069296 |
| Gene Name |
vomeronasal 1 receptor 195 |
| Synonyms |
V1ri6 |
| MMRRC Submission |
068558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R8704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22462487-22463574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22463058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 176
(Y176C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091736]
[ENSMUST00000228711]
|
| AlphaFold |
Q5SVD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091736
AA Change: Y176C
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089330
Gene: ENSMUSG00000069296
AA Change: Y176C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
34 |
300 |
5.6e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228711
AA Change: Y176C
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,773,489 (GRCm39) |
Q628R |
possibly damaging |
Het |
| Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
| Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
| Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
| Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
| Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
| Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
| Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
| Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
| Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,668,104 (GRCm39) |
M866K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
| Mib2 |
A |
G |
4: 155,743,620 (GRCm39) |
M275T |
possibly damaging |
Het |
| Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,358,510 (GRCm39) |
E508G |
unknown |
Het |
| Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
| Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Rhobtb2 |
G |
A |
14: 70,031,373 (GRCm39) |
P584L |
probably damaging |
Het |
| Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
| Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
| Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
| Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
probably damaging |
Het |
|
| Other mutations in Vmn1r195 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01751:Vmn1r195
|
APN |
13 |
22,463,421 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01752:Vmn1r195
|
APN |
13 |
22,463,421 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01780:Vmn1r195
|
APN |
13 |
22,463,255 (GRCm39) |
missense |
probably benign |
0.34 |
|
PIT4812001:Vmn1r195
|
UTSW |
13 |
22,463,033 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0066:Vmn1r195
|
UTSW |
13 |
22,463,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0066:Vmn1r195
|
UTSW |
13 |
22,463,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0350:Vmn1r195
|
UTSW |
13 |
22,463,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Vmn1r195
|
UTSW |
13 |
22,463,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Vmn1r195
|
UTSW |
13 |
22,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Vmn1r195
|
UTSW |
13 |
22,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Vmn1r195
|
UTSW |
13 |
22,463,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1464:Vmn1r195
|
UTSW |
13 |
22,463,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1999:Vmn1r195
|
UTSW |
13 |
22,462,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2150:Vmn1r195
|
UTSW |
13 |
22,462,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4924:Vmn1r195
|
UTSW |
13 |
22,463,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5190:Vmn1r195
|
UTSW |
13 |
22,462,556 (GRCm39) |
nonsense |
probably null |
|
|
R5522:Vmn1r195
|
UTSW |
13 |
22,463,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Vmn1r195
|
UTSW |
13 |
22,462,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6509:Vmn1r195
|
UTSW |
13 |
22,463,279 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7288:Vmn1r195
|
UTSW |
13 |
22,463,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Vmn1r195
|
UTSW |
13 |
22,462,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Vmn1r195
|
UTSW |
13 |
22,463,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7810:Vmn1r195
|
UTSW |
13 |
22,463,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Vmn1r195
|
UTSW |
13 |
22,463,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Vmn1r195
|
UTSW |
13 |
22,463,335 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9255:Vmn1r195
|
UTSW |
13 |
22,463,342 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9390:Vmn1r195
|
UTSW |
13 |
22,462,535 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9802:Vmn1r195
|
UTSW |
13 |
22,463,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCATGGTCCAGGTTGTC -3'
(R):5'- ACTCCACGTAGCTCGGATTTC -3'
Sequencing Primer
(F):5'- GGTTGTCACCATCAGTCCTAGAAC -3'
(R):5'- CTCGGATTTCTGGGCTGGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation