Incidental Mutation 'R3781:Vmn1r45'
| ID |
272047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r45
|
| Ensembl Gene |
ENSMUSG00000044248 |
| Gene Name |
vomeronasal 1 receptor 45 |
| Synonyms |
V1ra2, V1r2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3781 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
89908632-89917489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89910799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 57
(R57L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054202]
[ENSMUST00000226167]
[ENSMUST00000227122]
[ENSMUST00000227426]
[ENSMUST00000227571]
[ENSMUST00000227977]
[ENSMUST00000228492]
[ENSMUST00000228662]
|
| AlphaFold |
Q8VIC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054202
AA Change: R57L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052123
Gene: ENSMUSG00000044248
AA Change: R57L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
26 |
315 |
2.5e-10 |
PFAM |
|
Pfam:V1R
|
54 |
318 |
1.5e-136 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227122
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227426
AA Change: R57L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227571
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227977
AA Change: R57L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228662
AA Change: R57L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bap1 |
T |
C |
14: 30,979,575 (GRCm39) |
I526T |
possibly damaging |
Het |
| Calcr |
T |
C |
6: 3,700,193 (GRCm39) |
T263A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,675,346 (GRCm39) |
I330V |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,931,399 (GRCm39) |
V110A |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,915 (GRCm39) |
Y179C |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,232,699 (GRCm39) |
|
probably benign |
Het |
| Mcm7 |
G |
A |
5: 138,162,998 (GRCm39) |
R385W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Nudt3 |
A |
G |
17: 27,799,782 (GRCm39) |
S134P |
possibly damaging |
Het |
| Or1e26 |
C |
A |
11: 73,479,839 (GRCm39) |
G242C |
probably damaging |
Het |
| Or1e26 |
A |
T |
11: 73,480,194 (GRCm39) |
Y123* |
probably null |
Het |
| Or4c100 |
A |
T |
2: 88,356,709 (GRCm39) |
T261S |
probably benign |
Het |
| Or4c107 |
G |
T |
2: 88,789,091 (GRCm39) |
E94* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,278 (GRCm39) |
I169V |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,042,892 (GRCm39) |
T2325A |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,222,393 (GRCm39) |
E993G |
probably damaging |
Het |
| Psmd4 |
T |
A |
3: 94,944,039 (GRCm39) |
Y15F |
probably benign |
Het |
| Rad23b |
C |
T |
4: 55,382,586 (GRCm39) |
T263M |
probably damaging |
Het |
| Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
| Zfp658 |
G |
A |
7: 43,223,270 (GRCm39) |
R515H |
probably benign |
Het |
|
| Other mutations in Vmn1r45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Vmn1r45
|
APN |
6 |
89,910,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02010:Vmn1r45
|
APN |
6 |
89,910,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02124:Vmn1r45
|
APN |
6 |
89,910,035 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02413:Vmn1r45
|
APN |
6 |
89,910,503 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0123:Vmn1r45
|
UTSW |
6 |
89,910,492 (GRCm39) |
nonsense |
probably null |
|
|
R0225:Vmn1r45
|
UTSW |
6 |
89,910,492 (GRCm39) |
nonsense |
probably null |
|
|
R1513:Vmn1r45
|
UTSW |
6 |
89,910,058 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2154:Vmn1r45
|
UTSW |
6 |
89,910,965 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3082:Vmn1r45
|
UTSW |
6 |
89,910,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4982:Vmn1r45
|
UTSW |
6 |
89,910,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5086:Vmn1r45
|
UTSW |
6 |
89,910,082 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5327:Vmn1r45
|
UTSW |
6 |
89,910,123 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5470:Vmn1r45
|
UTSW |
6 |
89,910,698 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6681:Vmn1r45
|
UTSW |
6 |
89,910,985 (GRCm39) |
start gained |
probably benign |
|
|
R7046:Vmn1r45
|
UTSW |
6 |
89,910,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7050:Vmn1r45
|
UTSW |
6 |
89,910,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7171:Vmn1r45
|
UTSW |
6 |
89,910,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Vmn1r45
|
UTSW |
6 |
89,910,133 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7401:Vmn1r45
|
UTSW |
6 |
89,910,416 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7417:Vmn1r45
|
UTSW |
6 |
89,910,035 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8068:Vmn1r45
|
UTSW |
6 |
89,910,261 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8223:Vmn1r45
|
UTSW |
6 |
89,910,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8942:Vmn1r45
|
UTSW |
6 |
89,910,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF019:Vmn1r45
|
UTSW |
6 |
89,910,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Vmn1r45
|
UTSW |
6 |
89,910,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACAGGAGCTTCTGGGACTG -3'
(R):5'- TTGCCAAGGAGTGATGAGTG -3'
Sequencing Primer
(F):5'- ACTCAACATGCTGGTGGTAC -3'
(R):5'- AAGGAGTGATGAGTGAGATTCTATTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation