Incidental Mutation 'IGL02527:Vmn2r117'
ID |
297137 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r117
|
Ensembl Gene |
ENSMUSG00000091407 |
Gene Name |
vomeronasal 2, receptor 117 |
Synonyms |
EG619788, V2Rp6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02527
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23696199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 403
(Y403H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
AlphaFold |
K7N6V1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171996
AA Change: Y403H
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126885 Gene: ENSMUSG00000091407 AA Change: Y403H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
471 |
2.6e-28 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
5e-20 |
PFAM |
Pfam:7tm_3
|
595 |
833 |
8.2e-54 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,638,392 (GRCm39) |
V868A |
probably damaging |
Het |
Adam25 |
T |
A |
8: 41,206,785 (GRCm39) |
I17K |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,906,650 (GRCm39) |
M123K |
probably benign |
Het |
Asic3 |
A |
G |
5: 24,621,275 (GRCm39) |
M332V |
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,042,712 (GRCm39) |
M1126K |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,334,966 (GRCm39) |
T818A |
probably damaging |
Het |
Cda |
G |
A |
4: 138,070,832 (GRCm39) |
Q104* |
probably null |
Het |
Cfhr4 |
T |
C |
1: 139,680,783 (GRCm39) |
N245S |
probably damaging |
Het |
Cpeb1 |
T |
C |
7: 81,009,635 (GRCm39) |
D234G |
probably damaging |
Het |
Cpq |
A |
G |
15: 33,302,509 (GRCm39) |
Y220C |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,047,795 (GRCm39) |
K1026R |
possibly damaging |
Het |
Dpep1 |
T |
C |
8: 123,925,487 (GRCm39) |
F47L |
probably damaging |
Het |
Dppa4 |
G |
T |
16: 48,109,456 (GRCm39) |
R66L |
possibly damaging |
Het |
Elac1 |
C |
A |
18: 73,880,304 (GRCm39) |
E31* |
probably null |
Het |
Fggy |
A |
G |
4: 95,585,306 (GRCm39) |
K62E |
probably damaging |
Het |
Ficd |
T |
A |
5: 113,875,027 (GRCm39) |
M32K |
probably benign |
Het |
Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
Gnb4 |
G |
T |
3: 32,644,015 (GRCm39) |
T181K |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,900,389 (GRCm39) |
Y164F |
probably damaging |
Het |
Hmmr |
A |
G |
11: 40,598,932 (GRCm39) |
L564P |
probably damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,293,231 (GRCm39) |
V257I |
probably benign |
Het |
Itga10 |
C |
A |
3: 96,562,940 (GRCm39) |
|
probably benign |
Het |
Kcnk18 |
T |
C |
19: 59,223,707 (GRCm39) |
V284A |
probably damaging |
Het |
Klf11 |
T |
A |
12: 24,705,322 (GRCm39) |
S259T |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,739,628 (GRCm39) |
|
probably benign |
Het |
Manea |
A |
G |
4: 26,336,619 (GRCm39) |
|
probably null |
Het |
Mybl1 |
T |
C |
1: 9,760,373 (GRCm39) |
H75R |
probably damaging |
Het |
Neb |
G |
A |
2: 52,153,959 (GRCm39) |
T2384M |
probably damaging |
Het |
Neb |
A |
G |
2: 52,039,225 (GRCm39) |
I6938T |
probably benign |
Het |
Ntrk3 |
T |
C |
7: 78,101,697 (GRCm39) |
D412G |
probably benign |
Het |
Olah |
T |
C |
2: 3,343,979 (GRCm39) |
E211G |
probably damaging |
Het |
Or10ag2 |
T |
C |
2: 87,249,181 (GRCm39) |
L261S |
probably damaging |
Het |
Paxbp1 |
A |
T |
16: 90,834,161 (GRCm39) |
N208K |
possibly damaging |
Het |
Prrc1 |
T |
A |
18: 57,522,419 (GRCm39) |
M417K |
probably benign |
Het |
Ptprq |
G |
A |
10: 107,522,424 (GRCm39) |
T543M |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,804,469 (GRCm39) |
V447A |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,035,968 (GRCm39) |
E287G |
probably benign |
Het |
Rusf1 |
T |
A |
7: 127,875,403 (GRCm39) |
T317S |
possibly damaging |
Het |
Tec |
A |
G |
5: 72,936,758 (GRCm39) |
|
probably null |
Het |
Tex26 |
A |
G |
5: 149,380,407 (GRCm39) |
D61G |
probably damaging |
Het |
Tgfb1i1 |
G |
A |
7: 127,851,734 (GRCm39) |
|
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,436,675 (GRCm39) |
Y55H |
possibly damaging |
Het |
Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
Umod |
C |
T |
7: 119,068,690 (GRCm39) |
G452D |
probably damaging |
Het |
Vcan |
G |
A |
13: 89,838,776 (GRCm39) |
T2256I |
possibly damaging |
Het |
Vmn1r31 |
A |
T |
6: 58,449,778 (GRCm39) |
I29K |
probably benign |
Het |
Vmn2r124 |
A |
T |
17: 18,286,764 (GRCm39) |
|
probably null |
Het |
Vmn2r65 |
T |
A |
7: 84,595,724 (GRCm39) |
K320M |
possibly damaging |
Het |
|
Other mutations in Vmn2r117 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Vmn2r117
|
APN |
17 |
23,698,520 (GRCm39) |
missense |
probably benign |
|
IGL00990:Vmn2r117
|
APN |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Vmn2r117
|
APN |
17 |
23,694,403 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01078:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01374:Vmn2r117
|
APN |
17 |
23,697,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01779:Vmn2r117
|
APN |
17 |
23,696,215 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02283:Vmn2r117
|
APN |
17 |
23,694,356 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02612:Vmn2r117
|
APN |
17 |
23,678,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02887:Vmn2r117
|
APN |
17 |
23,694,552 (GRCm39) |
splice site |
probably benign |
|
IGL03167:Vmn2r117
|
APN |
17 |
23,696,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R0315:Vmn2r117
|
UTSW |
17 |
23,679,139 (GRCm39) |
missense |
probably benign |
0.11 |
R0610:Vmn2r117
|
UTSW |
17 |
23,694,488 (GRCm39) |
missense |
probably benign |
0.00 |
R0747:Vmn2r117
|
UTSW |
17 |
23,694,477 (GRCm39) |
nonsense |
probably null |
|
R1411:Vmn2r117
|
UTSW |
17 |
23,679,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Vmn2r117
|
UTSW |
17 |
23,697,447 (GRCm39) |
missense |
probably benign |
0.00 |
R1853:Vmn2r117
|
UTSW |
17 |
23,696,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R1925:Vmn2r117
|
UTSW |
17 |
23,697,363 (GRCm39) |
missense |
probably benign |
0.00 |
R1940:Vmn2r117
|
UTSW |
17 |
23,696,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Vmn2r117
|
UTSW |
17 |
23,696,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Vmn2r117
|
UTSW |
17 |
23,679,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2698:Vmn2r117
|
UTSW |
17 |
23,678,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R2972:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2973:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R2974:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3161:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
R3848:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
R4082:Vmn2r117
|
UTSW |
17 |
23,679,080 (GRCm39) |
missense |
probably benign |
0.00 |
R4320:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
R4560:Vmn2r117
|
UTSW |
17 |
23,678,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Vmn2r117
|
UTSW |
17 |
23,697,390 (GRCm39) |
missense |
probably benign |
0.01 |
R4881:Vmn2r117
|
UTSW |
17 |
23,696,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4908:Vmn2r117
|
UTSW |
17 |
23,678,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
R5078:Vmn2r117
|
UTSW |
17 |
23,679,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Vmn2r117
|
UTSW |
17 |
23,696,848 (GRCm39) |
nonsense |
probably null |
|
R5774:Vmn2r117
|
UTSW |
17 |
23,696,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R6014:Vmn2r117
|
UTSW |
17 |
23,698,535 (GRCm39) |
missense |
probably damaging |
0.97 |
R6390:Vmn2r117
|
UTSW |
17 |
23,679,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6520:Vmn2r117
|
UTSW |
17 |
23,679,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R6674:Vmn2r117
|
UTSW |
17 |
23,679,023 (GRCm39) |
nonsense |
probably null |
|
R6736:Vmn2r117
|
UTSW |
17 |
23,697,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R6909:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6913:Vmn2r117
|
UTSW |
17 |
23,698,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R7220:Vmn2r117
|
UTSW |
17 |
23,696,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7260:Vmn2r117
|
UTSW |
17 |
23,694,359 (GRCm39) |
missense |
probably benign |
0.06 |
R7440:Vmn2r117
|
UTSW |
17 |
23,694,539 (GRCm39) |
missense |
probably benign |
0.26 |
R7443:Vmn2r117
|
UTSW |
17 |
23,679,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Vmn2r117
|
UTSW |
17 |
23,679,107 (GRCm39) |
missense |
probably benign |
0.25 |
R7449:Vmn2r117
|
UTSW |
17 |
23,678,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Vmn2r117
|
UTSW |
17 |
23,696,265 (GRCm39) |
missense |
probably damaging |
0.98 |
R7914:Vmn2r117
|
UTSW |
17 |
23,679,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8001:Vmn2r117
|
UTSW |
17 |
23,698,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8029:Vmn2r117
|
UTSW |
17 |
23,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
R8340:Vmn2r117
|
UTSW |
17 |
23,679,511 (GRCm39) |
missense |
probably benign |
0.01 |
R8519:Vmn2r117
|
UTSW |
17 |
23,698,442 (GRCm39) |
missense |
probably benign |
|
R8723:Vmn2r117
|
UTSW |
17 |
23,696,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Vmn2r117
|
UTSW |
17 |
23,679,143 (GRCm39) |
missense |
probably benign |
0.02 |
R9010:Vmn2r117
|
UTSW |
17 |
23,679,445 (GRCm39) |
missense |
probably benign |
0.10 |
R9129:Vmn2r117
|
UTSW |
17 |
23,678,918 (GRCm39) |
nonsense |
probably null |
|
R9244:Vmn2r117
|
UTSW |
17 |
23,696,589 (GRCm39) |
missense |
probably damaging |
0.98 |
R9464:Vmn2r117
|
UTSW |
17 |
23,696,578 (GRCm39) |
missense |
probably benign |
0.23 |
R9620:Vmn2r117
|
UTSW |
17 |
23,697,450 (GRCm39) |
missense |
probably damaging |
0.97 |
V5622:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
V5622:Vmn2r117
|
UTSW |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r117
|
UTSW |
17 |
23,678,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |