Incidental Mutation 'R4566:Vmn2r51'
| ID |
343320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r51
|
| Ensembl Gene |
ENSMUSG00000058685 |
| Gene Name |
vomeronasal 2, receptor 51 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9821125-9839586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9836341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 147
(E147K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094863]
|
| AlphaFold |
L7N215 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094863
AA Change: E147K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092459
Gene: ENSMUSG00000058685
AA Change: E147K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
| Apol7a |
A |
T |
15: 77,273,951 (GRCm39) |
Y170* |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,301 (GRCm39) |
P510T |
possibly damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,471 (GRCm39) |
M191T |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,058,203 (GRCm39) |
R893C |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
| Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,100,723 (GRCm39) |
V48A |
possibly damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,778,889 (GRCm39) |
I296K |
probably 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 |
|
R0967:Vmn2r51
|
UTSW |
7 |
9,834,012 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TTCTGGTGGTAGCCCTTAGC -3'
(R):5'- ACTTCCAGTATAGCGTAGTGC -3'
Sequencing Primer
(F):5'- GCAAAAGGCCTAACATGTTTCTG -3'
(R):5'- CATTGGTGTTTGCAATGGATGAAATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation