Incidental Mutation 'R0967:Vmn2r51'
| ID |
83906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r51
|
| Ensembl Gene |
ENSMUSG00000058685 |
| Gene Name |
vomeronasal 2, receptor 51 |
| Synonyms |
|
| MMRRC Submission |
039096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
9821125-9839586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 9834012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 342
(H342P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094863]
|
| AlphaFold |
L7N215 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094863
AA Change: H342P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092459
Gene: ENSMUSG00000058685
AA Change: H342P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
2.4e-31 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
8.1e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.7e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
| Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
| Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
| Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
| Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
| Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly damaging |
Het |
|
| Other mutations in Vmn2r51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Vmn2r51
|
APN |
7 |
9,836,341 (GRCm39) |
missense |
probably benign |
|
|
IGL01574:Vmn2r51
|
APN |
7 |
9,836,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Vmn2r51
|
APN |
7 |
9,834,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01820:Vmn2r51
|
APN |
7 |
9,839,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Vmn2r51
|
APN |
7 |
9,834,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02825:Vmn2r51
|
APN |
7 |
9,832,046 (GRCm39) |
splice site |
probably benign |
|
|
IGL02834:Vmn2r51
|
APN |
7 |
9,832,063 (GRCm39) |
nonsense |
probably null |
|
|
R0617:Vmn2r51
|
UTSW |
7 |
9,834,396 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1465:Vmn2r51
|
UTSW |
7 |
9,834,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Vmn2r51
|
UTSW |
7 |
9,834,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Vmn2r51
|
UTSW |
7 |
9,836,373 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1559:Vmn2r51
|
UTSW |
7 |
9,836,372 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1598:Vmn2r51
|
UTSW |
7 |
9,839,432 (GRCm39) |
missense |
probably benign |
|
|
R1754:Vmn2r51
|
UTSW |
7 |
9,833,873 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1836:Vmn2r51
|
UTSW |
7 |
9,832,091 (GRCm39) |
nonsense |
probably null |
|
|
R1836:Vmn2r51
|
UTSW |
7 |
9,832,090 (GRCm39) |
nonsense |
probably null |
|
|
R3151:Vmn2r51
|
UTSW |
7 |
9,833,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4566:Vmn2r51
|
UTSW |
7 |
9,836,341 (GRCm39) |
missense |
probably benign |
|
|
R4933:Vmn2r51
|
UTSW |
7 |
9,832,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Vmn2r51
|
UTSW |
7 |
9,821,932 (GRCm39) |
missense |
probably benign |
|
|
R5050:Vmn2r51
|
UTSW |
7 |
9,834,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5510:Vmn2r51
|
UTSW |
7 |
9,836,545 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5559:Vmn2r51
|
UTSW |
7 |
9,826,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Vmn2r51
|
UTSW |
7 |
9,839,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Vmn2r51
|
UTSW |
7 |
9,821,921 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6304:Vmn2r51
|
UTSW |
7 |
9,832,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6370:Vmn2r51
|
UTSW |
7 |
9,832,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Vmn2r51
|
UTSW |
7 |
9,836,510 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6800:Vmn2r51
|
UTSW |
7 |
9,832,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6883:Vmn2r51
|
UTSW |
7 |
9,834,025 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7191:Vmn2r51
|
UTSW |
7 |
9,834,480 (GRCm39) |
missense |
probably null |
1.00 |
|
R7246:Vmn2r51
|
UTSW |
7 |
9,836,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8939:Vmn2r51
|
UTSW |
7 |
9,833,953 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9154:Vmn2r51
|
UTSW |
7 |
9,839,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9428:Vmn2r51
|
UTSW |
7 |
9,833,712 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9451:Vmn2r51
|
UTSW |
7 |
9,833,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Vmn2r51
|
UTSW |
7 |
9,839,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9767:Vmn2r51
|
UTSW |
7 |
9,839,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r51
|
UTSW |
7 |
9,833,835 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Vmn2r51
|
UTSW |
7 |
9,821,984 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCTGTTGCAGATTCATCTCG -3'
(R):5'- CTTCAGAATGTTGGACCCTCCCAC -3'
Sequencing Primer
(F):5'- CAGATTCATCTCGTGGAGGGC -3'
(R):5'- CCTCCCACTTTACAGAGAATATGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation