Incidental Mutation 'IGL02474:Vmn1r216'
| ID |
294841 |
| 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? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
IGL02474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23283319-23284215 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23283647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080253]
[ENSMUST00000228389]
[ENSMUST00000228802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080253
AA Change: V110A
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079139
Gene: ENSMUSG00000116057
AA Change: V110A
| 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 |
possibly damaging
Transcript: ENSMUST00000228389
AA Change: V110A
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228802
AA Change: V110A
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,038,491 (GRCm39) |
E283G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,982,297 (GRCm39) |
I1194V |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,943,127 (GRCm39) |
N1149Y |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
| Cacna1s |
A |
C |
1: 136,046,118 (GRCm39) |
T1461P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,883,397 (GRCm39) |
S113P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Cramp1 |
A |
G |
17: 25,204,024 (GRCm39) |
V318A |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,975 (GRCm39) |
V163A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,669,708 (GRCm39) |
D439G |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,180 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
C |
A |
6: 126,857,194 (GRCm39) |
C495F |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,198,244 (GRCm39) |
V402A |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,538 (GRCm39) |
M643V |
possibly damaging |
Het |
| Gbp9 |
A |
T |
5: 105,242,433 (GRCm39) |
|
probably benign |
Het |
| Ginm1 |
A |
G |
10: 7,653,532 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,394,217 (GRCm39) |
D282E |
probably damaging |
Het |
| Gm5799 |
T |
C |
14: 43,782,086 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm9894 |
T |
C |
13: 67,913,213 (GRCm39) |
|
noncoding transcript |
Het |
| Gng12 |
A |
G |
6: 66,992,745 (GRCm39) |
K4R |
probably benign |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,182 (GRCm39) |
D556E |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,719,107 (GRCm39) |
L1153Q |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,213,526 (GRCm39) |
L17Q |
probably null |
Het |
| Mc5r |
T |
C |
18: 68,471,910 (GRCm39) |
F90L |
probably damaging |
Het |
| Or1x2 |
C |
A |
11: 50,918,192 (GRCm39) |
A121D |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,019 (GRCm39) |
S18T |
probably benign |
Het |
| Or6b13 |
T |
C |
7: 139,782,500 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,682,897 (GRCm39) |
M284K |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,656 (GRCm39) |
I181L |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,143,293 (GRCm39) |
Y6N |
probably damaging |
Het |
| Polr2g |
C |
A |
19: 8,775,820 (GRCm39) |
|
probably null |
Het |
| Psme3 |
A |
G |
11: 101,208,480 (GRCm39) |
Q82R |
probably benign |
Het |
| Rab11a |
G |
T |
9: 64,633,929 (GRCm39) |
T17K |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,940,017 (GRCm39) |
L85Q |
probably damaging |
Het |
| Skap1 |
A |
T |
11: 96,599,512 (GRCm39) |
Y188F |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,326,536 (GRCm39) |
F34I |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,771,854 (GRCm39) |
I98S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,708,532 (GRCm39) |
|
probably benign |
Het |
| Ube2t |
A |
T |
1: 134,899,079 (GRCm39) |
K21* |
probably null |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,150 (GRCm39) |
F736I |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,845,158 (GRCm39) |
T2081A |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Vmn1r216 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Vmn1r216
|
APN |
13 |
23,283,574 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation