Incidental Mutation 'IGL02488:Vmn1r46'
ID |
295501 |
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 # |
IGL02488
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
89953153-89954082 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89953963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 271
(C271S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075797]
[ENSMUST00000205088]
[ENSMUST00000226715]
[ENSMUST00000228231]
[ENSMUST00000228349]
[ENSMUST00000228401]
|
AlphaFold |
Q9EQ45 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075797
AA Change: C271S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000075197 Gene: ENSMUSG00000061653 AA Change: C271S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:V1R
|
38 |
301 |
5.9e-132 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205088
AA Change: C271S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144888 Gene: ENSMUSG00000061653 AA Change: C271S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:V1R
|
38 |
301 |
5.9e-132 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226715
AA Change: C271S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228231
AA Change: C271S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228349
AA Change: C271S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228401
AA Change: C271S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
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 |
Adam5 |
C |
T |
8: 25,282,022 (GRCm39) |
D417N |
probably damaging |
Het |
Akr1d1 |
A |
T |
6: 37,544,095 (GRCm39) |
E324D |
probably benign |
Het |
Ankrd34a |
A |
G |
3: 96,506,229 (GRCm39) |
I478V |
probably benign |
Het |
C8b |
A |
G |
4: 104,661,278 (GRCm39) |
H498R |
probably benign |
Het |
Cct6a |
T |
G |
5: 129,866,885 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
C |
A |
11: 118,879,640 (GRCm39) |
T98N |
probably damaging |
Het |
Fcna |
A |
T |
2: 25,515,223 (GRCm39) |
|
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,451 (GRCm39) |
Y31H |
probably benign |
Het |
Gzme |
A |
T |
14: 56,355,849 (GRCm39) |
N154K |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,430,150 (GRCm39) |
V849A |
probably benign |
Het |
Hps1 |
C |
T |
19: 42,746,227 (GRCm39) |
|
probably benign |
Het |
Incenp |
A |
T |
19: 9,870,771 (GRCm39) |
I286N |
unknown |
Het |
Matn1 |
G |
T |
4: 130,671,804 (GRCm39) |
V24F |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,335,483 (GRCm39) |
T1302A |
probably damaging |
Het |
Megf10 |
A |
G |
18: 57,425,704 (GRCm39) |
Y1030C |
probably damaging |
Het |
Mpdu1 |
T |
C |
11: 69,549,435 (GRCm39) |
T87A |
probably damaging |
Het |
Or1j18 |
T |
A |
2: 36,624,362 (GRCm39) |
S10T |
probably benign |
Het |
Or52h1 |
T |
A |
7: 103,829,478 (GRCm39) |
I46F |
possibly damaging |
Het |
Pde6h |
A |
G |
6: 136,940,264 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,421,993 (GRCm39) |
I3088V |
probably benign |
Het |
Plec |
G |
T |
15: 76,063,359 (GRCm39) |
T2259K |
possibly damaging |
Het |
Ptch2 |
C |
T |
4: 116,967,593 (GRCm39) |
R754C |
probably damaging |
Het |
Ptpn12 |
T |
C |
5: 21,227,060 (GRCm39) |
T81A |
possibly damaging |
Het |
Sars2 |
C |
T |
7: 28,441,585 (GRCm39) |
R49* |
probably null |
Het |
Scyl1 |
G |
T |
19: 5,820,341 (GRCm39) |
Y164* |
probably null |
Het |
Smarcd1 |
T |
C |
15: 99,609,082 (GRCm39) |
C419R |
possibly damaging |
Het |
Syne2 |
C |
A |
12: 76,012,512 (GRCm39) |
R2568S |
probably benign |
Het |
Tap2 |
A |
G |
17: 34,433,616 (GRCm39) |
|
probably benign |
Het |
Thrb |
T |
A |
14: 18,033,455 (GRCm38) |
I406K |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,968,163 (GRCm39) |
I410F |
probably benign |
Het |
Tns2 |
T |
C |
15: 102,021,178 (GRCm39) |
S940P |
probably benign |
Het |
Trav6-2 |
A |
G |
14: 52,905,243 (GRCm39) |
K88R |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,586,352 (GRCm39) |
M386V |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,675 (GRCm39) |
E224G |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,302,560 (GRCm39) |
E1808G |
possibly damaging |
Het |
Zfp385a |
A |
G |
15: 103,228,733 (GRCm39) |
I42T |
probably 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 |
IGL03116:Vmn1r46
|
APN |
6 |
89,953,898 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03270:Vmn1r46
|
APN |
6 |
89,953,756 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |