Incidental Mutation 'R5332:Vmn2r121'
| ID |
423327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r121
|
| Ensembl Gene |
ENSMUSG00000072049 |
| Gene Name |
vomeronasal 2, receptor 121 |
| Synonyms |
EG625699 |
| MMRRC Submission |
042914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5332 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
123037036-123045607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123043272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 120
(T120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094491]
|
| AlphaFold |
A2BE32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094491
AA Change: T120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092067
Gene: ENSMUSG00000072049
AA Change: T120A
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
| Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
| Coro2b |
T |
C |
9: 62,336,512 (GRCm39) |
D254G |
probably damaging |
Het |
| Crhbp |
G |
T |
13: 95,572,963 (GRCm39) |
P261H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
| Ptrh1 |
T |
C |
2: 32,666,758 (GRCm39) |
V109A |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
| Zfp974 |
A |
C |
7: 27,625,715 (GRCm39) |
S52A |
probably benign |
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 |
|
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 |
|
|
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'- TAGCAGCACACTCGCAAATG -3'
(R):5'- CTTGATGTGTACAATTCCCTAAAGG -3'
Sequencing Primer
(F):5'- CGCAAATGCATTCTTTCCAAG -3'
(R):5'- TAATCCCTGCACTTGGGGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation