Incidental Mutation 'IGL00432:Vmn1r216'
ID |
4335 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn1r216
|
Ensembl Gene |
ENSMUSG00000116057 |
Gene Name |
vomeronasal 1 receptor 216 |
Synonyms |
V1ri10 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.238)
|
Stock # |
IGL00432
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
23283319-23284215 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23283574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 86
(I86V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080253]
[ENSMUST00000228389]
[ENSMUST00000228802]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080253
AA Change: I86V
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000079139 Gene: ENSMUSG00000116057 AA Change: I86V
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
5 |
295 |
2.7e-7 |
PFAM |
Pfam:V1R
|
35 |
297 |
4.3e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227317
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228389
AA Change: I86V
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228802
AA Change: I86V
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
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 |
AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
Other mutations in Vmn1r216 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01524:Vmn1r216
|
APN |
13 |
23,283,519 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01673:Vmn1r216
|
APN |
13 |
23,283,641 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02474:Vmn1r216
|
APN |
13 |
23,283,647 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02867:Vmn1r216
|
APN |
13 |
23,283,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02889:Vmn1r216
|
APN |
13 |
23,283,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03289:Vmn1r216
|
APN |
13 |
23,284,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0113:Vmn1r216
|
UTSW |
13 |
23,283,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Vmn1r216
|
UTSW |
13 |
23,283,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R2191:Vmn1r216
|
UTSW |
13 |
23,283,403 (GRCm39) |
missense |
probably benign |
0.39 |
R2960:Vmn1r216
|
UTSW |
13 |
23,284,103 (GRCm39) |
missense |
probably benign |
0.23 |
R3522:Vmn1r216
|
UTSW |
13 |
23,283,544 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3697:Vmn1r216
|
UTSW |
13 |
23,283,849 (GRCm39) |
nonsense |
probably null |
|
R4024:Vmn1r216
|
UTSW |
13 |
23,284,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Vmn1r216
|
UTSW |
13 |
23,283,506 (GRCm39) |
missense |
probably benign |
0.02 |
R5088:Vmn1r216
|
UTSW |
13 |
23,283,473 (GRCm39) |
nonsense |
probably null |
|
R5412:Vmn1r216
|
UTSW |
13 |
23,284,081 (GRCm39) |
missense |
probably benign |
0.03 |
R5905:Vmn1r216
|
UTSW |
13 |
23,283,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6006:Vmn1r216
|
UTSW |
13 |
23,283,928 (GRCm39) |
missense |
probably benign |
0.01 |
R6020:Vmn1r216
|
UTSW |
13 |
23,284,105 (GRCm39) |
missense |
probably benign |
0.04 |
R6213:Vmn1r216
|
UTSW |
13 |
23,283,339 (GRCm39) |
missense |
probably benign |
0.21 |
R6897:Vmn1r216
|
UTSW |
13 |
23,283,445 (GRCm39) |
nonsense |
probably null |
|
R7483:Vmn1r216
|
UTSW |
13 |
23,283,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R7487:Vmn1r216
|
UTSW |
13 |
23,284,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8213:Vmn1r216
|
UTSW |
13 |
23,283,695 (GRCm39) |
missense |
probably benign |
0.45 |
R8490:Vmn1r216
|
UTSW |
13 |
23,283,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8752:Vmn1r216
|
UTSW |
13 |
23,283,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R9017:Vmn1r216
|
UTSW |
13 |
23,284,081 (GRCm39) |
missense |
probably benign |
0.03 |
R9547:Vmn1r216
|
UTSW |
13 |
23,283,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9639:Vmn1r216
|
UTSW |
13 |
23,283,518 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2012-04-20 |