Incidental Mutation 'R2373:Vmn1r82'
| ID |
248202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r82
|
| Ensembl Gene |
ENSMUSG00000058132 |
| Gene Name |
vomeronasal 1 receptor 82 |
| Synonyms |
V1rg12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R2373 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12038732-12039646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12038982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 85
(V85E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072801]
[ENSMUST00000191002]
[ENSMUST00000227672]
|
| AlphaFold |
A0A087WRV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072801
AA Change: V84E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072580
Gene: ENSMUSG00000058132
AA Change: V84E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
35 |
295 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191002
AA Change: V85E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140782
Gene: ENSMUSG00000058132
AA Change: V85E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
36 |
296 |
8.4e-27 |
PFAM |
|
Pfam:7tm_1
|
39 |
290 |
2e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227672
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
| 9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
| Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
| Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
| Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
| Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
| Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
Het |
|
| Other mutations in Vmn1r82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01509:Vmn1r82
|
APN |
7 |
12,039,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01955:Vmn1r82
|
APN |
7 |
12,039,650 (GRCm39) |
splice site |
probably null |
|
|
IGL02267:Vmn1r82
|
APN |
7 |
12,039,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Vmn1r82
|
UTSW |
7 |
12,039,248 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2849:Vmn1r82
|
UTSW |
7 |
12,039,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Vmn1r82
|
UTSW |
7 |
12,039,263 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5628:Vmn1r82
|
UTSW |
7 |
12,039,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Vmn1r82
|
UTSW |
7 |
12,039,012 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6263:Vmn1r82
|
UTSW |
7 |
12,039,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Vmn1r82
|
UTSW |
7 |
12,039,290 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9551:Vmn1r82
|
UTSW |
7 |
12,039,600 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9552:Vmn1r82
|
UTSW |
7 |
12,039,600 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9792:Vmn1r82
|
UTSW |
7 |
12,039,083 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATAGTCTTCATCCTGCAG -3'
(R):5'- GAAGCAGATTCATAGGCCAAC -3'
Sequencing Primer
(F):5'- TGCAGACTACTGTAGGAATCCTG -3'
(R):5'- TTCATAGGCCAACTGAGTGAGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation