Incidental Mutation 'IGL01516:Vmn2r57'
ID |
90381 |
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: 0.115)
|
Stock # |
IGL01516
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41049370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 793
(V793A)
|
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 damaging
Transcript: ENSMUST00000165029
AA Change: V793A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125817 Gene: ENSMUSG00000066537 AA Change: V793A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170929
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
probably benign |
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 |
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 |
|
IGL02801:Vmn2r57
|
APN |
7 |
41,098,056 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
2013-12-09 |