Incidental Mutation 'IGL02351:Vmn2r50'
ID |
289452 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r50
|
Ensembl Gene |
ENSMUSG00000094606 |
Gene Name |
vomeronasal 2, receptor 50 |
Synonyms |
EG434117 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
IGL02351
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9787002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 35
(Q35L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
AlphaFold |
E9PW61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074943
AA Change: Q35L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000074476 Gene: ENSMUSG00000094606 AA Change: Q35L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
469 |
1.4e-32 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
2.9e-20 |
PFAM |
Pfam:7tm_3
|
597 |
833 |
1.3e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086298
AA Change: Q35L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000083478 Gene: ENSMUSG00000094606 AA Change: Q35L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
452 |
7e-31 |
PFAM |
Pfam:NCD3G
|
496 |
549 |
5.3e-19 |
PFAM |
Pfam:7tm_3
|
579 |
818 |
3.9e-78 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,474,418 (GRCm39) |
T448A |
possibly damaging |
Het |
Adamtsl1 |
T |
A |
4: 86,075,110 (GRCm39) |
|
probably null |
Het |
Adgra3 |
A |
G |
5: 50,215,900 (GRCm39) |
V73A |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,489,358 (GRCm39) |
|
probably benign |
Het |
Aktip |
C |
T |
8: 91,853,520 (GRCm39) |
V96I |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,433,476 (GRCm39) |
I258T |
probably benign |
Het |
Baz1b |
C |
T |
5: 135,273,160 (GRCm39) |
T1428I |
probably damaging |
Het |
C3ar1 |
A |
T |
6: 122,826,934 (GRCm39) |
Y428N |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Cenpq |
A |
G |
17: 41,235,223 (GRCm39) |
L213P |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,446,504 (GRCm39) |
|
probably null |
Het |
Cln6 |
A |
G |
9: 62,754,407 (GRCm39) |
I150V |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,045,136 (GRCm39) |
T94A |
probably benign |
Het |
Cyp2c67 |
A |
G |
19: 39,605,861 (GRCm39) |
M345T |
probably damaging |
Het |
Dapk2 |
T |
A |
9: 66,153,805 (GRCm39) |
I187N |
probably damaging |
Het |
Dkk2 |
A |
G |
3: 131,883,673 (GRCm39) |
D191G |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,986,785 (GRCm39) |
F3145I |
probably damaging |
Het |
Dock1 |
A |
C |
7: 134,710,548 (GRCm39) |
D1190A |
possibly damaging |
Het |
Ehhadh |
T |
A |
16: 21,581,620 (GRCm39) |
L457F |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,001,497 (GRCm39) |
L552P |
probably damaging |
Het |
Ghrhr |
T |
G |
6: 55,361,138 (GRCm39) |
I284S |
probably damaging |
Het |
Gm10288 |
A |
T |
3: 146,544,954 (GRCm39) |
|
noncoding transcript |
Het |
Gp6 |
T |
G |
7: 4,397,507 (GRCm39) |
I19L |
probably benign |
Het |
Gria4 |
G |
A |
9: 4,456,206 (GRCm39) |
S698L |
possibly damaging |
Het |
Ifng |
A |
T |
10: 118,278,410 (GRCm39) |
I53F |
possibly damaging |
Het |
Kazn |
A |
C |
4: 141,874,327 (GRCm39) |
|
probably null |
Het |
Khk |
A |
T |
5: 31,085,848 (GRCm39) |
I136F |
probably damaging |
Het |
Lnx1 |
T |
A |
5: 74,788,027 (GRCm39) |
N98Y |
probably damaging |
Het |
Lsp1 |
T |
C |
7: 142,042,679 (GRCm39) |
|
probably null |
Het |
Lta4h |
A |
T |
10: 93,314,329 (GRCm39) |
N467I |
probably benign |
Het |
Mcmbp |
C |
A |
7: 128,311,505 (GRCm39) |
|
probably null |
Het |
Me2 |
A |
T |
18: 73,931,038 (GRCm39) |
I85K |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,353,649 (GRCm39) |
Y525N |
probably damaging |
Het |
Nt5e |
G |
A |
9: 88,209,946 (GRCm39) |
V70M |
probably damaging |
Het |
Or52e4 |
G |
A |
7: 104,706,182 (GRCm39) |
G243D |
probably damaging |
Het |
Or8b36 |
A |
T |
9: 37,937,332 (GRCm39) |
I77L |
possibly damaging |
Het |
Or9k7 |
T |
G |
10: 130,046,603 (GRCm39) |
Y132S |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,373,129 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
A |
T |
11: 85,236,541 (GRCm39) |
E440V |
probably damaging |
Het |
Pramel32 |
A |
T |
4: 88,546,127 (GRCm39) |
I405N |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,915,572 (GRCm39) |
E1047D |
probably damaging |
Het |
Rwdd2b |
G |
A |
16: 87,234,336 (GRCm39) |
A18V |
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,068,384 (GRCm39) |
K148N |
probably damaging |
Het |
Setx |
A |
G |
2: 29,036,976 (GRCm39) |
K1154E |
probably benign |
Het |
Skap1 |
T |
A |
11: 96,599,382 (GRCm39) |
|
probably null |
Het |
Spcs2 |
T |
C |
7: 99,498,241 (GRCm39) |
K81R |
probably damaging |
Het |
Stt3b |
T |
A |
9: 115,079,975 (GRCm39) |
M646L |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,646,195 (GRCm39) |
T1169A |
probably benign |
Het |
Susd1 |
A |
T |
4: 59,427,985 (GRCm39) |
Y66* |
probably null |
Het |
Trim34a |
T |
A |
7: 103,910,441 (GRCm39) |
C414* |
probably null |
Het |
Trim58 |
G |
A |
11: 58,542,176 (GRCm39) |
G379S |
probably damaging |
Het |
Zfp418 |
T |
C |
7: 7,177,690 (GRCm39) |
|
probably benign |
Het |
Zfp57 |
G |
A |
17: 37,320,919 (GRCm39) |
V258I |
probably benign |
Het |
Zng1 |
A |
T |
19: 24,909,026 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Vmn2r50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01536:Vmn2r50
|
APN |
7 |
9,771,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01739:Vmn2r50
|
APN |
7 |
9,771,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02358:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02871:Vmn2r50
|
APN |
7 |
9,781,714 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02962:Vmn2r50
|
APN |
7 |
9,784,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03187:Vmn2r50
|
APN |
7 |
9,771,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03346:Vmn2r50
|
APN |
7 |
9,779,929 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4651001:Vmn2r50
|
UTSW |
7 |
9,771,659 (GRCm39) |
missense |
probably benign |
0.30 |
R0530:Vmn2r50
|
UTSW |
7 |
9,781,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1291:Vmn2r50
|
UTSW |
7 |
9,771,404 (GRCm39) |
missense |
probably damaging |
0.98 |
R1438:Vmn2r50
|
UTSW |
7 |
9,784,062 (GRCm39) |
nonsense |
probably null |
|
R1713:Vmn2r50
|
UTSW |
7 |
9,771,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1747:Vmn2r50
|
UTSW |
7 |
9,781,605 (GRCm39) |
missense |
probably benign |
0.20 |
R1750:Vmn2r50
|
UTSW |
7 |
9,786,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1918:Vmn2r50
|
UTSW |
7 |
9,781,610 (GRCm39) |
missense |
probably benign |
0.03 |
R2435:Vmn2r50
|
UTSW |
7 |
9,787,026 (GRCm39) |
missense |
probably benign |
0.27 |
R2511:Vmn2r50
|
UTSW |
7 |
9,781,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3795:Vmn2r50
|
UTSW |
7 |
9,771,851 (GRCm39) |
missense |
probably benign |
0.18 |
R4156:Vmn2r50
|
UTSW |
7 |
9,774,309 (GRCm39) |
missense |
probably benign |
0.12 |
R4332:Vmn2r50
|
UTSW |
7 |
9,786,922 (GRCm39) |
missense |
probably benign |
0.32 |
R4399:Vmn2r50
|
UTSW |
7 |
9,781,834 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4411:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R4412:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R4413:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R4645:Vmn2r50
|
UTSW |
7 |
9,771,162 (GRCm39) |
makesense |
probably null |
|
R5151:Vmn2r50
|
UTSW |
7 |
9,786,970 (GRCm39) |
missense |
probably benign |
0.00 |
R5175:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Vmn2r50
|
UTSW |
7 |
9,781,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5457:Vmn2r50
|
UTSW |
7 |
9,781,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R5559:Vmn2r50
|
UTSW |
7 |
9,771,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Vmn2r50
|
UTSW |
7 |
9,784,016 (GRCm39) |
missense |
probably benign |
0.00 |
R5711:Vmn2r50
|
UTSW |
7 |
9,774,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5759:Vmn2r50
|
UTSW |
7 |
9,781,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R6004:Vmn2r50
|
UTSW |
7 |
9,783,986 (GRCm39) |
missense |
probably benign |
0.00 |
R6394:Vmn2r50
|
UTSW |
7 |
9,774,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6762:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
R6995:Vmn2r50
|
UTSW |
7 |
9,779,964 (GRCm39) |
nonsense |
probably null |
|
R6998:Vmn2r50
|
UTSW |
7 |
9,771,684 (GRCm39) |
missense |
probably benign |
0.03 |
R7019:Vmn2r50
|
UTSW |
7 |
9,784,172 (GRCm39) |
missense |
probably benign |
0.01 |
R7027:Vmn2r50
|
UTSW |
7 |
9,781,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
R7343:Vmn2r50
|
UTSW |
7 |
9,784,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7554:Vmn2r50
|
UTSW |
7 |
9,784,066 (GRCm39) |
missense |
probably null |
0.00 |
R7704:Vmn2r50
|
UTSW |
7 |
9,781,665 (GRCm39) |
missense |
probably benign |
0.05 |
R7768:Vmn2r50
|
UTSW |
7 |
9,771,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R7773:Vmn2r50
|
UTSW |
7 |
9,771,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7975:Vmn2r50
|
UTSW |
7 |
9,771,272 (GRCm39) |
missense |
probably benign |
0.39 |
R7987:Vmn2r50
|
UTSW |
7 |
9,772,016 (GRCm39) |
missense |
probably benign |
0.14 |
R7996:Vmn2r50
|
UTSW |
7 |
9,781,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R8062:Vmn2r50
|
UTSW |
7 |
9,774,240 (GRCm39) |
critical splice donor site |
probably null |
|
R8396:Vmn2r50
|
UTSW |
7 |
9,781,639 (GRCm39) |
nonsense |
probably null |
|
R8466:Vmn2r50
|
UTSW |
7 |
9,783,997 (GRCm39) |
missense |
probably damaging |
0.97 |
R8985:Vmn2r50
|
UTSW |
7 |
9,779,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Vmn2r50
|
UTSW |
7 |
9,772,061 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9155:Vmn2r50
|
UTSW |
7 |
9,781,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R9238:Vmn2r50
|
UTSW |
7 |
9,781,503 (GRCm39) |
missense |
probably benign |
0.01 |
R9576:Vmn2r50
|
UTSW |
7 |
9,771,190 (GRCm39) |
missense |
probably benign |
|
R9626:Vmn2r50
|
UTSW |
7 |
9,771,960 (GRCm39) |
nonsense |
probably null |
|
R9631:Vmn2r50
|
UTSW |
7 |
9,786,990 (GRCm39) |
nonsense |
probably null |
|
X0067:Vmn2r50
|
UTSW |
7 |
9,786,954 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Vmn2r50
|
UTSW |
7 |
9,780,086 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Vmn2r50
|
UTSW |
7 |
9,771,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-04-16 |