Incidental Mutation 'IGL00984:Vmn1r71'
| ID |
27952 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r71
|
| Ensembl Gene |
ENSMUSG00000059206 |
| Gene Name |
vomeronasal 1 receptor 71 |
| Synonyms |
V1re13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL00984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10482046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228098]
[ENSMUST00000228526]
[ENSMUST00000228248]
[ENSMUST00000228374]
[ENSMUST00000228561]
|
| AlphaFold |
Q8VIC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079113
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078116
Gene: ENSMUSG00000059206
AA Change: V214A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
3 |
304 |
2e-8 |
PFAM |
|
Pfam:7tm_1
|
22 |
289 |
3.1e-6 |
PFAM |
|
Pfam:V1R
|
34 |
297 |
4.8e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210233
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226874
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227003
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227702
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227940
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228098
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228526
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228248
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228374
AA Change: V214A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228561
AA Change: V148A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,534 (GRCm39) |
H180L |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,624 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
| Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
| Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
| Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,618 (GRCm39) |
L311H |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
| Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
| Rpl3l |
T |
C |
17: 24,954,445 (GRCm39) |
C336R |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,597 (GRCm39) |
S443P |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
| Syt16 |
C |
T |
12: 74,269,604 (GRCm39) |
Q148* |
probably null |
Het |
| Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
| Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
| Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
Het |
|
| Other mutations in Vmn1r71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01921:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02397:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02654:Vmn1r71
|
APN |
7 |
10,482,242 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02900:Vmn1r71
|
APN |
7 |
10,482,601 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03236:Vmn1r71
|
APN |
7 |
10,482,211 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03269:Vmn1r71
|
APN |
7 |
10,482,571 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
FR4976:Vmn1r71
|
UTSW |
7 |
10,482,048 (GRCm39) |
missense |
probably benign |
|
|
R0389:Vmn1r71
|
UTSW |
7 |
10,482,238 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0443:Vmn1r71
|
UTSW |
7 |
10,482,238 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0470:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0471:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0472:Vmn1r71
|
UTSW |
7 |
10,482,019 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0567:Vmn1r71
|
UTSW |
7 |
10,482,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Vmn1r71
|
UTSW |
7 |
10,482,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1745:Vmn1r71
|
UTSW |
7 |
10,482,196 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2350:Vmn1r71
|
UTSW |
7 |
10,481,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2970:Vmn1r71
|
UTSW |
7 |
10,482,641 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3522:Vmn1r71
|
UTSW |
7 |
10,481,792 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4193:Vmn1r71
|
UTSW |
7 |
10,482,175 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4736:Vmn1r71
|
UTSW |
7 |
10,481,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5115:Vmn1r71
|
UTSW |
7 |
10,481,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6108:Vmn1r71
|
UTSW |
7 |
10,482,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6455:Vmn1r71
|
UTSW |
7 |
10,482,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6582:Vmn1r71
|
UTSW |
7 |
10,482,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6696:Vmn1r71
|
UTSW |
7 |
10,482,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6778:Vmn1r71
|
UTSW |
7 |
10,482,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7347:Vmn1r71
|
UTSW |
7 |
10,482,428 (GRCm39) |
missense |
not run |
|
|
R7631:Vmn1r71
|
UTSW |
7 |
10,482,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Vmn1r71
|
UTSW |
7 |
10,482,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7820:Vmn1r71
|
UTSW |
7 |
10,482,652 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7836:Vmn1r71
|
UTSW |
7 |
10,482,277 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2013-04-17 |
Incidental Mutation