Incidental Mutation 'IGL02801:Vmn2r57'
ID |
360211 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r57
|
Ensembl Gene |
ENSMUSG00000066537 |
Gene Name |
vomeronasal 2, receptor 57 |
Synonyms |
EG269902 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL02801
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41098056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 4
(I4V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
AlphaFold |
L7N269 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165029
AA Change: I4V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125817 Gene: ENSMUSG00000066537 AA Change: I4V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap5 |
A |
T |
12: 76,375,769 (GRCm39) |
K400N |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,393,336 (GRCm39) |
I1193F |
probably damaging |
Het |
Arhgef16 |
A |
T |
4: 154,375,964 (GRCm39) |
L10Q |
probably damaging |
Het |
Arl10 |
T |
C |
13: 54,723,696 (GRCm39) |
V106A |
probably benign |
Het |
Bmi1 |
T |
C |
2: 18,686,692 (GRCm39) |
Y24H |
probably damaging |
Het |
Cd163 |
T |
A |
6: 124,297,488 (GRCm39) |
I878K |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,515,696 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
C |
4: 128,445,868 (GRCm39) |
|
probably null |
Het |
Dcp2 |
G |
T |
18: 44,550,778 (GRCm39) |
M417I |
probably damaging |
Het |
Ddx11 |
T |
A |
17: 66,455,028 (GRCm39) |
C662S |
probably benign |
Het |
Dhx29 |
G |
A |
13: 113,101,180 (GRCm39) |
C1241Y |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,455,010 (GRCm39) |
P37L |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,037,476 (GRCm39) |
|
probably null |
Het |
Dzip1 |
T |
A |
14: 119,123,067 (GRCm39) |
K643* |
probably null |
Het |
Ecel1 |
A |
G |
1: 87,079,725 (GRCm39) |
S463P |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,784,104 (GRCm39) |
V1361A |
possibly damaging |
Het |
Fads2 |
C |
A |
19: 10,060,009 (GRCm39) |
A222S |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,570,278 (GRCm39) |
N1410D |
probably benign |
Het |
Fbxw16 |
A |
G |
9: 109,270,144 (GRCm39) |
F199S |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,559,596 (GRCm39) |
V1637A |
possibly damaging |
Het |
Gabrg2 |
A |
G |
11: 41,803,220 (GRCm39) |
S442P |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,966 (GRCm39) |
T114A |
possibly damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,912 (GRCm39) |
E27G |
probably damaging |
Het |
Isl2 |
A |
G |
9: 55,452,816 (GRCm39) |
|
probably null |
Het |
Lamc2 |
T |
A |
1: 153,012,529 (GRCm39) |
H715L |
probably benign |
Het |
Lrif1 |
T |
C |
3: 106,641,930 (GRCm39) |
V102A |
possibly damaging |
Het |
Lrrc39 |
A |
G |
3: 116,371,995 (GRCm39) |
N254S |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,883,178 (GRCm39) |
W1346R |
probably damaging |
Het |
Melk |
T |
C |
4: 44,360,930 (GRCm39) |
I570T |
probably damaging |
Het |
Mlkl |
G |
A |
8: 112,043,064 (GRCm39) |
T361M |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,797,111 (GRCm39) |
M94K |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,580,876 (GRCm39) |
C124R |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,574,095 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Pde1c |
G |
T |
6: 56,150,651 (GRCm39) |
N289K |
probably damaging |
Het |
Pfas |
G |
A |
11: 68,879,103 (GRCm39) |
|
probably benign |
Het |
Pms2 |
A |
T |
5: 143,862,653 (GRCm39) |
I587F |
probably benign |
Het |
Ppargc1b |
T |
C |
18: 61,440,755 (GRCm39) |
E721G |
possibly damaging |
Het |
Ppp2r1b |
A |
G |
9: 50,790,127 (GRCm39) |
I435V |
probably benign |
Het |
Psip1 |
C |
T |
4: 83,376,357 (GRCm39) |
S494N |
probably benign |
Het |
Ranbp3 |
T |
C |
17: 57,017,766 (GRCm39) |
V474A |
probably benign |
Het |
Rnf220 |
C |
T |
4: 117,130,448 (GRCm39) |
C259Y |
probably damaging |
Het |
Sdr16c6 |
T |
C |
4: 4,076,603 (GRCm39) |
I99V |
probably benign |
Het |
Slc36a1 |
A |
T |
11: 55,116,879 (GRCm39) |
I303F |
probably benign |
Het |
Slc4a1 |
C |
T |
11: 102,249,972 (GRCm39) |
|
probably null |
Het |
Syncrip |
A |
T |
9: 88,361,862 (GRCm39) |
D84E |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,043,657 (GRCm39) |
Y593H |
probably damaging |
Het |
Tenm2 |
G |
T |
11: 35,937,857 (GRCm39) |
Y1605* |
probably null |
Het |
Tmem135 |
T |
A |
7: 88,803,333 (GRCm39) |
H280L |
probably benign |
Het |
Tmem229a |
T |
A |
6: 24,955,121 (GRCm39) |
Q211L |
probably benign |
Het |
Txlna |
T |
C |
4: 129,534,201 (GRCm39) |
D5G |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,055,453 (GRCm39) |
L1539S |
probably damaging |
Het |
Zdhhc14 |
T |
G |
17: 5,777,094 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Vmn2r57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Vmn2r57
|
APN |
7 |
41,078,209 (GRCm39) |
missense |
probably benign |
|
IGL01108:Vmn2r57
|
APN |
7 |
41,077,008 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01112:Vmn2r57
|
APN |
7 |
41,074,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01516:Vmn2r57
|
APN |
7 |
41,049,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01880:Vmn2r57
|
APN |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02117:Vmn2r57
|
APN |
7 |
41,049,874 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02500:Vmn2r57
|
APN |
7 |
41,077,650 (GRCm39) |
missense |
probably benign |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02996:Vmn2r57
|
APN |
7 |
41,049,165 (GRCm39) |
missense |
probably benign |
0.02 |
R0008:Vmn2r57
|
UTSW |
7 |
41,050,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Vmn2r57
|
UTSW |
7 |
41,049,157 (GRCm39) |
splice site |
probably null |
|
R0305:Vmn2r57
|
UTSW |
7 |
41,076,967 (GRCm39) |
missense |
probably benign |
0.00 |
R0469:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0510:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0847:Vmn2r57
|
UTSW |
7 |
41,078,225 (GRCm39) |
missense |
probably benign |
0.00 |
R1025:Vmn2r57
|
UTSW |
7 |
41,077,228 (GRCm39) |
missense |
probably benign |
0.24 |
R1081:Vmn2r57
|
UTSW |
7 |
41,077,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1479:Vmn2r57
|
UTSW |
7 |
41,077,254 (GRCm39) |
missense |
possibly damaging |
0.45 |
R1579:Vmn2r57
|
UTSW |
7 |
41,049,548 (GRCm39) |
missense |
probably benign |
0.38 |
R1764:Vmn2r57
|
UTSW |
7 |
41,050,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Vmn2r57
|
UTSW |
7 |
41,077,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Vmn2r57
|
UTSW |
7 |
41,098,001 (GRCm39) |
missense |
probably benign |
0.00 |
R2197:Vmn2r57
|
UTSW |
7 |
41,078,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2242:Vmn2r57
|
UTSW |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.00 |
R2394:Vmn2r57
|
UTSW |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3937:Vmn2r57
|
UTSW |
7 |
41,077,554 (GRCm39) |
missense |
probably damaging |
0.97 |
R4193:Vmn2r57
|
UTSW |
7 |
41,077,663 (GRCm39) |
missense |
probably benign |
|
R4423:Vmn2r57
|
UTSW |
7 |
41,076,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Vmn2r57
|
UTSW |
7 |
41,049,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Vmn2r57
|
UTSW |
7 |
41,049,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5042:Vmn2r57
|
UTSW |
7 |
41,078,086 (GRCm39) |
missense |
probably benign |
0.06 |
R5084:Vmn2r57
|
UTSW |
7 |
41,075,974 (GRCm39) |
critical splice donor site |
probably null |
|
R5177:Vmn2r57
|
UTSW |
7 |
41,049,664 (GRCm39) |
missense |
probably benign |
0.31 |
R5192:Vmn2r57
|
UTSW |
7 |
41,077,363 (GRCm39) |
missense |
probably damaging |
0.96 |
R5289:Vmn2r57
|
UTSW |
7 |
41,049,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R5745:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6051:Vmn2r57
|
UTSW |
7 |
41,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
R6155:Vmn2r57
|
UTSW |
7 |
41,078,114 (GRCm39) |
missense |
probably benign |
0.14 |
R6248:Vmn2r57
|
UTSW |
7 |
41,049,284 (GRCm39) |
missense |
probably benign |
|
R6381:Vmn2r57
|
UTSW |
7 |
41,078,242 (GRCm39) |
missense |
probably benign |
0.08 |
R7019:Vmn2r57
|
UTSW |
7 |
41,078,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Vmn2r57
|
UTSW |
7 |
41,049,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7146:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7215:Vmn2r57
|
UTSW |
7 |
41,049,710 (GRCm39) |
missense |
probably benign |
0.00 |
R7432:Vmn2r57
|
UTSW |
7 |
41,076,148 (GRCm39) |
missense |
probably benign |
0.01 |
R7633:Vmn2r57
|
UTSW |
7 |
41,074,513 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7811:Vmn2r57
|
UTSW |
7 |
41,074,439 (GRCm39) |
nonsense |
probably null |
|
R8025:Vmn2r57
|
UTSW |
7 |
41,076,183 (GRCm39) |
missense |
probably benign |
0.00 |
R8332:Vmn2r57
|
UTSW |
7 |
41,049,677 (GRCm39) |
missense |
probably benign |
0.01 |
R8345:Vmn2r57
|
UTSW |
7 |
41,076,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8360:Vmn2r57
|
UTSW |
7 |
41,049,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:Vmn2r57
|
UTSW |
7 |
41,077,020 (GRCm39) |
missense |
probably benign |
0.00 |
R8758:Vmn2r57
|
UTSW |
7 |
41,078,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Vmn2r57
|
UTSW |
7 |
41,049,571 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8985:Vmn2r57
|
UTSW |
7 |
41,049,259 (GRCm39) |
missense |
probably benign |
|
R9108:Vmn2r57
|
UTSW |
7 |
41,078,192 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9160:Vmn2r57
|
UTSW |
7 |
41,076,159 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9354:Vmn2r57
|
UTSW |
7 |
41,049,663 (GRCm39) |
missense |
probably benign |
0.01 |
R9566:Vmn2r57
|
UTSW |
7 |
41,077,089 (GRCm39) |
missense |
probably benign |
0.32 |
R9633:Vmn2r57
|
UTSW |
7 |
41,076,006 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Vmn2r57
|
UTSW |
7 |
41,077,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0026:Vmn2r57
|
UTSW |
7 |
41,077,549 (GRCm39) |
missense |
probably benign |
0.03 |
X0065:Vmn2r57
|
UTSW |
7 |
41,077,395 (GRCm39) |
missense |
probably benign |
0.09 |
Z1176:Vmn2r57
|
UTSW |
7 |
41,049,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-12-18 |