Incidental Mutation 'IGL01777:Vmn2r43'
ID |
154107 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r43
|
Ensembl Gene |
ENSMUSG00000053720 |
Gene Name |
vomeronasal 2, receptor 43 |
Synonyms |
EC2-V2R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL01777
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
8247347-8263598 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8258272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 314
(I314V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066317]
|
AlphaFold |
Q80Z08 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066317
AA Change: I314V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069647 Gene: ENSMUSG00000053720 AA Change: I314V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
453 |
5.1e-35 |
PFAM |
Pfam:NCD3G
|
496 |
549 |
7.7e-21 |
PFAM |
Pfam:7tm_3
|
582 |
817 |
3e-56 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
Het |
|
Other mutations in Vmn2r43 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01756:Vmn2r43
|
APN |
7 |
8,258,583 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02096:Vmn2r43
|
APN |
7 |
8,260,512 (GRCm39) |
splice site |
probably benign |
|
IGL02429:Vmn2r43
|
APN |
7 |
8,258,551 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03026:Vmn2r43
|
APN |
7 |
8,258,096 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03155:Vmn2r43
|
APN |
7 |
8,258,068 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1722:Vmn2r43
|
UTSW |
7 |
8,258,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R1813:Vmn2r43
|
UTSW |
7 |
8,258,055 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1896:Vmn2r43
|
UTSW |
7 |
8,258,055 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1975:Vmn2r43
|
UTSW |
7 |
8,258,550 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3951:Vmn2r43
|
UTSW |
7 |
8,258,319 (GRCm39) |
missense |
probably benign |
0.00 |
R4658:Vmn2r43
|
UTSW |
7 |
8,258,070 (GRCm39) |
missense |
probably benign |
0.01 |
R4879:Vmn2r43
|
UTSW |
7 |
8,258,102 (GRCm39) |
missense |
probably benign |
0.01 |
R4896:Vmn2r43
|
UTSW |
7 |
8,247,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Vmn2r43
|
UTSW |
7 |
8,247,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5041:Vmn2r43
|
UTSW |
7 |
8,247,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5577:Vmn2r43
|
UTSW |
7 |
8,247,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6073:Vmn2r43
|
UTSW |
7 |
8,258,184 (GRCm39) |
missense |
probably benign |
0.13 |
R6133:Vmn2r43
|
UTSW |
7 |
8,247,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6867:Vmn2r43
|
UTSW |
7 |
8,258,125 (GRCm39) |
missense |
probably benign |
0.00 |
R7214:Vmn2r43
|
UTSW |
7 |
8,256,379 (GRCm39) |
critical splice donor site |
probably null |
|
R7339:Vmn2r43
|
UTSW |
7 |
8,258,306 (GRCm39) |
nonsense |
probably null |
|
R7424:Vmn2r43
|
UTSW |
7 |
8,258,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R7534:Vmn2r43
|
UTSW |
7 |
8,258,230 (GRCm39) |
nonsense |
probably null |
|
R7542:Vmn2r43
|
UTSW |
7 |
8,258,488 (GRCm39) |
missense |
probably benign |
0.00 |
R7757:Vmn2r43
|
UTSW |
7 |
8,258,253 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8131:Vmn2r43
|
UTSW |
7 |
8,258,326 (GRCm39) |
missense |
probably benign |
0.00 |
R8345:Vmn2r43
|
UTSW |
7 |
8,256,601 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8418:Vmn2r43
|
UTSW |
7 |
8,258,583 (GRCm39) |
nonsense |
probably null |
|
R9691:Vmn2r43
|
UTSW |
7 |
8,247,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |