Incidental Mutation 'IGL03270:Vmn1r46'
| ID |
415215 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r46
|
| Ensembl Gene |
ENSMUSG00000061653 |
| Gene Name |
vomeronasal 1 receptor 46 |
| Synonyms |
V1rb8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03270
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
89953153-89954082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89953756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 202
(S202T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075797]
[ENSMUST00000205088]
[ENSMUST00000226715]
[ENSMUST00000228231]
[ENSMUST00000228349]
[ENSMUST00000228401]
|
| AlphaFold |
Q9EQ45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075797
AA Change: S202T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075197
Gene: ENSMUSG00000061653
AA Change: S202T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
301 |
5.9e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205088
AA Change: S202T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144888
Gene: ENSMUSG00000061653
AA Change: S202T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
301 |
5.9e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226715
AA Change: S202T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228231
AA Change: S202T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228349
AA Change: S202T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228401
AA Change: S202T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ctnnd1 |
A |
T |
2: 84,440,071 (GRCm39) |
|
probably null |
Het |
| Fcmr |
A |
T |
1: 130,803,779 (GRCm39) |
R194S |
possibly damaging |
Het |
| Fmo2 |
A |
G |
1: 162,709,595 (GRCm39) |
F264S |
probably damaging |
Het |
| Gfra2 |
A |
G |
14: 71,163,344 (GRCm39) |
D209G |
possibly damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Iigp1c |
A |
G |
18: 60,378,548 (GRCm39) |
K28E |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,676,302 (GRCm39) |
M419K |
probably benign |
Het |
| Lgr6 |
A |
C |
1: 134,925,442 (GRCm39) |
I133S |
probably damaging |
Het |
| Med13l |
A |
C |
5: 118,869,495 (GRCm39) |
N811T |
probably damaging |
Het |
| Or4c118 |
A |
G |
2: 88,975,089 (GRCm39) |
F93L |
probably damaging |
Het |
| Or6k2 |
T |
A |
1: 173,987,119 (GRCm39) |
M260K |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,592,637 (GRCm39) |
D1580V |
possibly damaging |
Het |
| Ppp4r2 |
T |
G |
6: 100,840,086 (GRCm39) |
N72K |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,983,537 (GRCm39) |
|
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,772,420 (GRCm39) |
|
probably benign |
Het |
| Rel |
T |
C |
11: 23,692,584 (GRCm39) |
N483S |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,358 (GRCm39) |
F1776L |
probably damaging |
Het |
| Slco5a1 |
G |
A |
1: 12,942,252 (GRCm39) |
T798I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,606,811 (GRCm39) |
D18033G |
probably damaging |
Het |
| Vmn2r110 |
T |
G |
17: 20,803,778 (GRCm39) |
M266L |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,027,778 (GRCm39) |
D506V |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,432,289 (GRCm39) |
S92P |
possibly damaging |
Het |
|
| Other mutations in Vmn1r46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02271:Vmn1r46
|
APN |
6 |
89,953,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02488:Vmn1r46
|
APN |
6 |
89,953,963 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03116:Vmn1r46
|
APN |
6 |
89,953,898 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0109:Vmn1r46
|
UTSW |
6 |
89,954,044 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0126:Vmn1r46
|
UTSW |
6 |
89,953,935 (GRCm39) |
missense |
probably benign |
|
|
R0681:Vmn1r46
|
UTSW |
6 |
89,953,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Vmn1r46
|
UTSW |
6 |
89,953,198 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1717:Vmn1r46
|
UTSW |
6 |
89,953,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Vmn1r46
|
UTSW |
6 |
89,953,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4323:Vmn1r46
|
UTSW |
6 |
89,953,349 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5449:Vmn1r46
|
UTSW |
6 |
89,953,343 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6062:Vmn1r46
|
UTSW |
6 |
89,953,241 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6385:Vmn1r46
|
UTSW |
6 |
89,953,427 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6431:Vmn1r46
|
UTSW |
6 |
89,953,389 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7126:Vmn1r46
|
UTSW |
6 |
89,953,976 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7391:Vmn1r46
|
UTSW |
6 |
89,953,607 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8700:Vmn1r46
|
UTSW |
6 |
89,953,325 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8950:Vmn1r46
|
UTSW |
6 |
89,954,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9046:Vmn1r46
|
UTSW |
6 |
89,953,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Vmn1r46
|
UTSW |
6 |
89,953,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation