Incidental Mutation 'IGL01125:Vmn2r121'
| ID |
53348 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r121
|
| Ensembl Gene |
ENSMUSG00000072049 |
| Gene Name |
vomeronasal 2, receptor 121 |
| Synonyms |
EG625699 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL01125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
123037036-123045607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123042504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 218
(I218F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094491]
|
| AlphaFold |
A2BE32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094491
AA Change: I218F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092067
Gene: ENSMUSG00000072049
AA Change: I218F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
75 |
448 |
3.2e-26 |
PFAM |
|
Pfam:NCD3G
|
506 |
560 |
2.1e-19 |
PFAM |
|
Pfam:7tm_3
|
593 |
828 |
3.8e-56 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
| Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
| Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
| Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
| Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
| Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
| Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
| Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably damaging |
Het |
|
| Other mutations in Vmn2r121 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r121
|
APN |
X |
123,037,480 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00990:Vmn2r121
|
APN |
X |
123,037,499 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00990:Vmn2r121
|
APN |
X |
123,043,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01450:Vmn2r121
|
APN |
X |
123,040,888 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01619:Vmn2r121
|
APN |
X |
123,041,997 (GRCm39) |
missense |
probably benign |
|
|
IGL01797:Vmn2r121
|
APN |
X |
123,041,048 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Vmn2r121
|
APN |
X |
123,042,378 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02971:Vmn2r121
|
APN |
X |
123,037,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Vmn2r121
|
APN |
X |
123,042,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03142:Vmn2r121
|
APN |
X |
123,042,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03183:Vmn2r121
|
APN |
X |
123,042,023 (GRCm39) |
missense |
probably benign |
0.03 |
|
E0370:Vmn2r121
|
UTSW |
X |
123,037,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0196:Vmn2r121
|
UTSW |
X |
123,041,879 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1381:Vmn2r121
|
UTSW |
X |
123,037,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1399:Vmn2r121
|
UTSW |
X |
123,039,545 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1423:Vmn2r121
|
UTSW |
X |
123,039,602 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1687:Vmn2r121
|
UTSW |
X |
123,042,488 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2121:Vmn2r121
|
UTSW |
X |
123,043,439 (GRCm39) |
splice site |
probably null |
|
|
R2124:Vmn2r121
|
UTSW |
X |
123,043,439 (GRCm39) |
splice site |
probably null |
|
|
R3151:Vmn2r121
|
UTSW |
X |
123,040,849 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4460:Vmn2r121
|
UTSW |
X |
123,038,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4735:Vmn2r121
|
UTSW |
X |
123,038,335 (GRCm39) |
missense |
probably benign |
|
|
R5332:Vmn2r121
|
UTSW |
X |
123,043,272 (GRCm39) |
missense |
probably benign |
|
|
R6102:Vmn2r121
|
UTSW |
X |
123,043,272 (GRCm39) |
missense |
probably benign |
|
|
X0023:Vmn2r121
|
UTSW |
X |
123,045,354 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2013-06-21 |
Incidental Mutation