Incidental Mutation 'IGL03278:Vmn2r89'
ID |
415472 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r89
|
Ensembl Gene |
ENSMUSG00000070448 |
Gene Name |
vomeronasal 2, receptor 89 |
Synonyms |
V2r10, V2r11 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
IGL03278
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51692557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 120
(Y120F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159611]
[ENSMUST00000159734]
[ENSMUST00000161670]
[ENSMUST00000162998]
|
AlphaFold |
O35199 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159611
AA Change: Y120F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124065 Gene: ENSMUSG00000070448 AA Change: Y120F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
449 |
4.8e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159734
AA Change: Y120F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124256 Gene: ENSMUSG00000070448 AA Change: Y120F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
420 |
1.1e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161670
|
SMART Domains |
Protein: ENSMUSP00000124261 Gene: ENSMUSG00000070448
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
SMART Domains |
Protein: ENSMUSP00000125409 Gene: ENSMUSG00000068399
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn2r89 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Vmn2r89
|
APN |
14 |
51,692,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Vmn2r89
|
APN |
14 |
51,694,950 (GRCm39) |
missense |
probably benign |
|
IGL00990:Vmn2r89
|
APN |
14 |
51,693,428 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01991:Vmn2r89
|
APN |
14 |
51,689,676 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03073:Vmn2r89
|
APN |
14 |
51,693,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03085:Vmn2r89
|
APN |
14 |
51,689,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R0115:Vmn2r89
|
UTSW |
14 |
51,693,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Vmn2r89
|
UTSW |
14 |
51,693,160 (GRCm39) |
missense |
probably damaging |
0.98 |
R0391:Vmn2r89
|
UTSW |
14 |
51,693,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R0481:Vmn2r89
|
UTSW |
14 |
51,693,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Vmn2r89
|
UTSW |
14 |
51,695,048 (GRCm39) |
splice site |
probably null |
|
R1210:Vmn2r89
|
UTSW |
14 |
51,692,427 (GRCm39) |
missense |
probably benign |
0.01 |
R1332:Vmn2r89
|
UTSW |
14 |
51,692,559 (GRCm39) |
missense |
probably benign |
0.00 |
R1660:Vmn2r89
|
UTSW |
14 |
51,693,693 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1959:Vmn2r89
|
UTSW |
14 |
51,694,897 (GRCm39) |
missense |
probably benign |
0.22 |
R2876:Vmn2r89
|
UTSW |
14 |
51,692,541 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3410:Vmn2r89
|
UTSW |
14 |
51,693,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4026:Vmn2r89
|
UTSW |
14 |
51,689,500 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R4398:Vmn2r89
|
UTSW |
14 |
51,689,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Vmn2r89
|
UTSW |
14 |
51,694,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4714:Vmn2r89
|
UTSW |
14 |
51,689,688 (GRCm39) |
missense |
probably damaging |
0.97 |
R5162:Vmn2r89
|
UTSW |
14 |
51,693,620 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5294:Vmn2r89
|
UTSW |
14 |
51,692,570 (GRCm39) |
missense |
probably benign |
0.00 |
R5811:Vmn2r89
|
UTSW |
14 |
51,693,565 (GRCm39) |
missense |
probably benign |
0.12 |
R6087:Vmn2r89
|
UTSW |
14 |
51,695,033 (GRCm39) |
splice site |
probably null |
|
R6229:Vmn2r89
|
UTSW |
14 |
51,693,178 (GRCm39) |
missense |
probably benign |
0.05 |
R6246:Vmn2r89
|
UTSW |
14 |
51,693,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Vmn2r89
|
UTSW |
14 |
51,693,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Vmn2r89
|
UTSW |
14 |
51,693,739 (GRCm39) |
missense |
probably benign |
0.30 |
R7683:Vmn2r89
|
UTSW |
14 |
51,692,651 (GRCm39) |
missense |
probably benign |
|
R7974:Vmn2r89
|
UTSW |
14 |
51,693,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R8047:Vmn2r89
|
UTSW |
14 |
51,692,549 (GRCm39) |
missense |
probably benign |
0.05 |
R8093:Vmn2r89
|
UTSW |
14 |
51,693,699 (GRCm39) |
missense |
probably benign |
0.00 |
R8348:Vmn2r89
|
UTSW |
14 |
51,692,548 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8723:Vmn2r89
|
UTSW |
14 |
51,693,910 (GRCm39) |
missense |
probably benign |
|
R8737:Vmn2r89
|
UTSW |
14 |
51,693,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Vmn2r89
|
UTSW |
14 |
51,693,170 (GRCm39) |
missense |
probably benign |
|
R9183:Vmn2r89
|
UTSW |
14 |
51,692,501 (GRCm39) |
missense |
probably benign |
0.01 |
R9197:Vmn2r89
|
UTSW |
14 |
51,693,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9377:Vmn2r89
|
UTSW |
14 |
51,692,601 (GRCm39) |
missense |
probably benign |
0.02 |
R9395:Vmn2r89
|
UTSW |
14 |
51,693,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Vmn2r89
|
UTSW |
14 |
51,693,288 (GRCm39) |
missense |
probably damaging |
0.99 |
R9457:Vmn2r89
|
UTSW |
14 |
51,693,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R9678:Vmn2r89
|
UTSW |
14 |
51,693,511 (GRCm39) |
missense |
probably benign |
0.09 |
X0019:Vmn2r89
|
UTSW |
14 |
51,693,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2016-08-02 |