Incidental Mutation 'R1399:Vmn2r121'
| ID |
160299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r121
|
| Ensembl Gene |
ENSMUSG00000072049 |
| Gene Name |
vomeronasal 2, receptor 121 |
| Synonyms |
EG625699 |
| MMRRC Submission |
039461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1399 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
123037036-123045607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 123039545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 541
(V541G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094491]
|
| AlphaFold |
A2BE32 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094491
AA Change: V541G
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092067
Gene: ENSMUSG00000072049
AA Change: V541G
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
T |
C |
10: 80,177,042 (GRCm39) |
S469G |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,100,471 (GRCm39) |
T209I |
possibly damaging |
Het |
| Cep170 |
C |
T |
1: 176,585,969 (GRCm39) |
E608K |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,028,982 (GRCm39) |
V45A |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,563,334 (GRCm39) |
Q297K |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| G6pd2 |
G |
A |
5: 61,967,361 (GRCm39) |
D379N |
probably benign |
Het |
| Mrc1 |
C |
T |
2: 14,284,736 (GRCm39) |
T575M |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,157,897 (GRCm39) |
|
probably null |
Het |
| Phka1 |
A |
G |
X: 101,660,964 (GRCm39) |
S226P |
probably damaging |
Het |
| Pias4 |
T |
C |
10: 80,991,509 (GRCm39) |
Y346C |
probably damaging |
Het |
| Ptger4 |
C |
T |
15: 5,264,412 (GRCm39) |
E415K |
possibly damaging |
Het |
| Pwwp4b |
A |
G |
X: 72,182,235 (GRCm39) |
L287P |
probably damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,320,042 (GRCm39) |
V1154I |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Zfp92 |
A |
T |
X: 72,466,401 (GRCm39) |
T465S |
probably benign |
Het |
| Zfp92 |
A |
G |
X: 72,465,736 (GRCm39) |
H243R |
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 |
|
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 |
|
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'- GTTGCTGCATTCTTCAAAACTTCACTCT -3'
(R):5'- GAAAAGCAGGTGTCACACAAATGTTCTT -3'
Sequencing Primer
(F):5'- CAAGTGTTACCCTGAGTATCTAGTC -3'
(R):5'- AACTGCTACAACCTGAATGTTAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation