Incidental Mutation 'E0370:Vmn2r121'
| ID |
206428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r121
|
| Ensembl Gene |
ENSMUSG00000072049 |
| Gene Name |
vomeronasal 2, receptor 121 |
| Synonyms |
EG625699 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
E0370 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
123037036-123045607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123037617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 801
(V801A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094491]
|
| AlphaFold |
A2BE32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094491
AA Change: V801A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092067
Gene: ENSMUSG00000072049
AA Change: V801A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
TGCAGCGACTGGACGGCGGCA |
TGCA |
11: 70,507,252 (GRCm39) |
|
probably null |
Het |
| Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
| Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
| Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
| Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,581,799 (GRCm39) |
N580S |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
| Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
| Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
| Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,810,924 (GRCm39) |
Y225C |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
| Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
| Steap1 |
T |
C |
5: 5,790,673 (GRCm39) |
R92G |
probably damaging |
Het |
| Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
| Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
| Trip13 |
A |
G |
13: 74,068,558 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Wiz |
C |
T |
17: 32,574,092 (GRCm39) |
R935Q |
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 |
|
IGL01125:Vmn2r121
|
APN |
X |
123,042,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAAGCACACATCTGTATGTTAC -3'
(R):5'- CACGTTGTCCTGGGATACTTGG -3'
Sequencing Primer
(F):5'- CCATGAAAGTTTCAATTAAGCA -3'
(R):5'- TCCTGGGATACTTGGGTTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation