Incidental Mutation 'IGL01756:Vmn2r43'
| ID |
153442 |
| 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 # |
IGL01756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
8247347-8263598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8258583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 210
(L210S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066317]
|
| AlphaFold |
Q80Z08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066317
AA Change: L210S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: L210S
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrnl1 |
A |
G |
19: 57,641,380 (GRCm39) |
N343D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,947,203 (GRCm39) |
V2974A |
probably benign |
Het |
| Cngb3 |
A |
C |
4: 19,367,850 (GRCm39) |
D253A |
probably damaging |
Het |
| Cog4 |
A |
T |
8: 111,580,391 (GRCm39) |
K154* |
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,706,884 (GRCm39) |
E2076D |
unknown |
Het |
| Cox7a2 |
T |
G |
9: 79,665,837 (GRCm39) |
T15P |
probably benign |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,415 (GRCm39) |
L304* |
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,123,678 (GRCm39) |
L407Q |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,482,887 (GRCm39) |
I3146T |
probably benign |
Het |
| Hipk4 |
T |
A |
7: 27,227,968 (GRCm39) |
L238* |
probably null |
Het |
| Igf2r |
C |
T |
17: 12,902,709 (GRCm39) |
R2447Q |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,725,361 (GRCm39) |
K526M |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,821,436 (GRCm39) |
E66G |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,182,895 (GRCm39) |
S288P |
probably damaging |
Het |
| Rigi |
A |
T |
4: 40,209,934 (GRCm39) |
N666K |
probably damaging |
Het |
| Sar1a |
T |
A |
10: 61,522,235 (GRCm39) |
M109K |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,754,052 (GRCm39) |
T294S |
probably benign |
Het |
| Srek1 |
C |
T |
13: 103,897,090 (GRCm39) |
D84N |
probably damaging |
Het |
| Trem1 |
G |
A |
17: 48,544,141 (GRCm39) |
W55* |
probably null |
Het |
| Tsnaxip1 |
A |
T |
8: 106,569,420 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01777:Vmn2r43
|
APN |
7 |
8,258,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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