Incidental Mutation 'IGL02397:Vmn1r71'
ID |
291721 |
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 # |
IGL02397
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
10481429-10483465 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 10482199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 163
(R163Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079113]
[ENSMUST00000226874]
[ENSMUST00000227003]
[ENSMUST00000227702]
[ENSMUST00000227940]
[ENSMUST00000228526]
[ENSMUST00000228098]
[ENSMUST00000228248]
[ENSMUST00000228374]
[ENSMUST00000228561]
|
AlphaFold |
Q8VIC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079113
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000078116 Gene: ENSMUSG00000059206 AA Change: R163Q
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: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227003
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227702
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227940
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228526
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228098
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228248
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228374
AA Change: R163Q
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228561
AA Change: R97Q
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,623,834 (GRCm39) |
N400S |
probably benign |
Het |
Adam12 |
T |
A |
7: 133,511,548 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,234,149 (GRCm39) |
|
probably benign |
Het |
Amn |
A |
T |
12: 111,240,913 (GRCm39) |
Y139F |
possibly damaging |
Het |
Ano10 |
C |
A |
9: 122,090,458 (GRCm39) |
R285L |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,024,046 (GRCm39) |
Y57C |
probably damaging |
Het |
Brd8 |
T |
C |
18: 34,737,926 (GRCm39) |
K786R |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,525,162 (GRCm39) |
|
probably benign |
Het |
Card9 |
C |
T |
2: 26,242,341 (GRCm39) |
D532N |
probably damaging |
Het |
Cd22 |
T |
C |
7: 30,577,050 (GRCm39) |
T86A |
probably benign |
Het |
Cebpz |
A |
T |
17: 79,230,690 (GRCm39) |
D842E |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,178,690 (GRCm39) |
N713S |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,756,933 (GRCm39) |
T1899A |
probably benign |
Het |
Fpgs |
T |
C |
2: 32,575,801 (GRCm39) |
T381A |
probably damaging |
Het |
Frmd7 |
G |
A |
X: 49,984,775 (GRCm39) |
T465I |
possibly damaging |
Het |
Gm9837 |
A |
T |
11: 53,360,987 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
C |
A |
4: 116,860,333 (GRCm39) |
A816D |
possibly damaging |
Het |
Itpripl2 |
A |
G |
7: 118,089,519 (GRCm39) |
W347R |
probably damaging |
Het |
Kcnc3 |
A |
G |
7: 44,245,218 (GRCm39) |
T503A |
probably damaging |
Het |
Mmadhc |
T |
C |
2: 50,178,992 (GRCm39) |
E142G |
possibly damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,192 (GRCm39) |
N138I |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,967,725 (GRCm39) |
V2902A |
possibly damaging |
Het |
Rbm8a2 |
T |
C |
1: 175,806,204 (GRCm39) |
D91G |
probably damaging |
Het |
Samd3 |
A |
T |
10: 26,109,474 (GRCm39) |
Y134F |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,299,530 (GRCm39) |
F58S |
probably damaging |
Het |
Slitrk4 |
T |
C |
X: 63,316,290 (GRCm39) |
T126A |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,438,572 (GRCm39) |
P1547T |
probably benign |
Het |
Tecta |
T |
C |
9: 42,306,294 (GRCm39) |
S45G |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,689,729 (GRCm39) |
T1937A |
possibly damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trmt1l |
T |
A |
1: 151,315,282 (GRCm39) |
I156N |
probably damaging |
Het |
Ythdf2 |
C |
T |
4: 131,938,757 (GRCm39) |
G13D |
probably damaging |
Het |
Zbtb7c |
A |
T |
18: 76,270,047 (GRCm39) |
Y45F |
possibly damaging |
Het |
Zfc3h1 |
G |
A |
10: 115,243,890 (GRCm39) |
M740I |
probably damaging |
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 |
IGL01921:Vmn1r71
|
APN |
7 |
10,482,199 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
2015-04-16 |