Incidental Mutation 'R5559:Vmn2r51'
| ID |
436454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r51
|
| Ensembl Gene |
ENSMUSG00000058685 |
| Gene Name |
vomeronasal 2, receptor 51 |
| Synonyms |
|
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9821125-9839586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9826128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 540
(S540C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094863]
|
| AlphaFold |
L7N215 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094863
AA Change: S540C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092459
Gene: ENSMUSG00000058685
AA Change: S540C
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
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 |
|
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 |
|
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'- ACCAGGCATGTTTGTTTGC -3'
(R):5'- GGACATTGTAAATCATCAATCAGGG -3'
Sequencing Primer
(F):5'- ACCAGGCATGTTTGTTTGCTTTTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation