Incidental Mutation 'IGL02440:Vmn2r22'
| ID |
293405 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r22
|
| Ensembl Gene |
ENSMUSG00000095486 |
| Gene Name |
vomeronasal 2, receptor 22 |
| Synonyms |
EG546913 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02440
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123586717-123627594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123614364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 409
(Y409H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170808]
|
| AlphaFold |
E9Q7S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170808
AA Change: Y409H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132043
Gene: ENSMUSG00000095486
AA Change: Y409H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
473 |
1.4e-32 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
2.2e-23 |
PFAM |
|
Pfam:7tm_3
|
601 |
838 |
1.2e-54 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,777 (GRCm39) |
|
probably benign |
Het |
| Bmt2 |
C |
T |
6: 13,628,609 (GRCm39) |
R358Q |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,114,259 (GRCm39) |
I182T |
probably benign |
Het |
| Calr3 |
T |
C |
8: 73,185,276 (GRCm39) |
T100A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,181,954 (GRCm39) |
K36R |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,468,974 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,899 (GRCm39) |
V1677E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,883 (GRCm39) |
E1684G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,846,072 (GRCm39) |
S2989P |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,034,635 (GRCm39) |
T1845S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,383,312 (GRCm39) |
N478K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,139 (GRCm39) |
I328V |
probably damaging |
Het |
| Itln1 |
C |
T |
1: 171,359,097 (GRCm39) |
A128T |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,861,713 (GRCm39) |
T97A |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,410,272 (GRCm39) |
K1322R |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,414 (GRCm39) |
Y153C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,350,813 (GRCm39) |
M1K |
probably null |
Het |
| Mtor |
T |
A |
4: 148,630,886 (GRCm39) |
M2281K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,576,104 (GRCm39) |
N1378K |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,254,022 (GRCm39) |
R557H |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,296,244 (GRCm39) |
|
probably null |
Het |
| Or2r3 |
T |
C |
6: 42,449,100 (GRCm39) |
D4G |
probably benign |
Het |
| Or2t46 |
A |
T |
11: 58,472,035 (GRCm39) |
M122L |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,374 (GRCm39) |
F257I |
probably damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,223 (GRCm39) |
M117K |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,699,052 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,626,700 (GRCm39) |
T582A |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,428,458 (GRCm39) |
E509D |
probably benign |
Het |
| Poln |
A |
T |
5: 34,286,474 (GRCm39) |
D231E |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,223,881 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,747 (GRCm39) |
S263P |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,573,194 (GRCm39) |
A574V |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,058,310 (GRCm39) |
I152T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,145,293 (GRCm39) |
I391V |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,781,720 (GRCm39) |
E80G |
probably damaging |
Het |
| Zfp691 |
T |
G |
4: 119,027,493 (GRCm39) |
R246S |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,796 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Vmn2r22
|
APN |
6 |
123,615,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01764:Vmn2r22
|
APN |
6 |
123,627,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02037:Vmn2r22
|
APN |
6 |
123,626,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Vmn2r22
|
APN |
6 |
123,614,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Vmn2r22
|
APN |
6 |
123,615,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02663:Vmn2r22
|
APN |
6 |
123,626,117 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03101:Vmn2r22
|
APN |
6 |
123,614,295 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0266:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0348:Vmn2r22
|
UTSW |
6 |
123,614,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0780:Vmn2r22
|
UTSW |
6 |
123,614,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0849:Vmn2r22
|
UTSW |
6 |
123,614,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1074:Vmn2r22
|
UTSW |
6 |
123,626,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1456:Vmn2r22
|
UTSW |
6 |
123,614,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1719:Vmn2r22
|
UTSW |
6 |
123,614,802 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1989:Vmn2r22
|
UTSW |
6 |
123,614,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2928:Vmn2r22
|
UTSW |
6 |
123,614,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2939:Vmn2r22
|
UTSW |
6 |
123,614,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3727:Vmn2r22
|
UTSW |
6 |
123,627,584 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3782:Vmn2r22
|
UTSW |
6 |
123,627,591 (GRCm39) |
nonsense |
probably null |
|
|
R3873:Vmn2r22
|
UTSW |
6 |
123,614,339 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4344:Vmn2r22
|
UTSW |
6 |
123,614,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Vmn2r22
|
UTSW |
6 |
123,614,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4430:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4431:Vmn2r22
|
UTSW |
6 |
123,614,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4701:Vmn2r22
|
UTSW |
6 |
123,627,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5274:Vmn2r22
|
UTSW |
6 |
123,627,593 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R5668:Vmn2r22
|
UTSW |
6 |
123,614,873 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5776:Vmn2r22
|
UTSW |
6 |
123,614,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Vmn2r22
|
UTSW |
6 |
123,614,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Vmn2r22
|
UTSW |
6 |
123,614,559 (GRCm39) |
missense |
not run |
|
|
R8208:Vmn2r22
|
UTSW |
6 |
123,614,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Vmn2r22
|
UTSW |
6 |
123,615,000 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8400:Vmn2r22
|
UTSW |
6 |
123,614,486 (GRCm39) |
nonsense |
probably null |
|
|
R8814:Vmn2r22
|
UTSW |
6 |
123,614,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8850:Vmn2r22
|
UTSW |
6 |
123,614,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9613:Vmn2r22
|
UTSW |
6 |
123,615,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation