Incidental Mutation 'IGL01921:Vmn1r71'
ID |
180091 |
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 # |
IGL01921
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 10482199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 163
(R163L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228098]
[ENSMUST00000228374]
[ENSMUST00000228561]
[ENSMUST00000228526]
[ENSMUST00000228248]
|
AlphaFold |
Q8VIC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079113
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000078116 Gene: ENSMUSG00000059206 AA Change: R163L
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 benign
Transcript: ENSMUST00000226874
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227003
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227702
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227940
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228098
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228374
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228561
AA Change: R97L
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228526
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228248
AA Change: R163L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn1r71 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00984:Vmn1r71
|
APN |
7 |
10,482,046 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-05-07 |