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 |
Incidental Mutation