Incidental Mutation 'R4615:Vmn2r53'
| ID |
345021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
041826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4615 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12316229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 530
(L530Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170412
AA Change: L530Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: L530Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
3.6e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
3.1e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
| Abcc9 |
C |
G |
6: 142,634,833 (GRCm39) |
A144P |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,642,688 (GRCm39) |
|
probably null |
Het |
| Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 98,919,598 (GRCm39) |
E119D |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,686,170 (GRCm39) |
N671S |
probably null |
Het |
| C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,421,706 (GRCm39) |
D1019G |
possibly damaging |
Het |
| Cdh8 |
A |
T |
8: 100,006,254 (GRCm39) |
I111K |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,847,913 (GRCm39) |
R649G |
probably damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,857 (GRCm39) |
K158* |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
A |
C |
5: 72,762,117 (GRCm39) |
L466V |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,481,137 (GRCm39) |
T1240A |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,433,560 (GRCm39) |
S1117P |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,550 (GRCm39) |
L396Q |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,745,164 (GRCm39) |
L56* |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,276,457 (GRCm39) |
T458A |
probably benign |
Het |
| Dio2 |
G |
T |
12: 90,696,595 (GRCm39) |
P131Q |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,236 (GRCm39) |
Y990C |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,104,545 (GRCm39) |
D594G |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,375,608 (GRCm39) |
E1131G |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,859,945 (GRCm39) |
Y21* |
probably null |
Het |
| Gal3st4 |
A |
G |
5: 138,264,525 (GRCm39) |
V158A |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,820 (GRCm39) |
E67D |
probably benign |
Het |
| Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
| Gng2 |
C |
T |
14: 19,941,395 (GRCm39) |
V16I |
possibly damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,492,726 (GRCm39) |
E1091G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,857,520 (GRCm39) |
V3110F |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
| Ncapg |
A |
T |
5: 45,844,741 (GRCm39) |
M579L |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,884,899 (GRCm39) |
Y346N |
probably benign |
Het |
| Or10ak14 |
T |
C |
4: 118,611,334 (GRCm39) |
T134A |
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,343,936 (GRCm39) |
S91P |
probably damaging |
Het |
| Orm2 |
A |
G |
4: 63,281,536 (GRCm39) |
D89G |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,553 (GRCm39) |
S288T |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,637,889 (GRCm39) |
C375F |
probably damaging |
Het |
| Pdcd10 |
T |
C |
3: 75,428,398 (GRCm39) |
I138M |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,970,485 (GRCm39) |
W536R |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,737,293 (GRCm39) |
N878I |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,480,938 (GRCm39) |
D353V |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,784,287 (GRCm39) |
T954I |
probably benign |
Het |
| Ran |
A |
G |
5: 129,099,162 (GRCm39) |
I115V |
probably benign |
Het |
| Reln |
A |
G |
5: 22,177,870 (GRCm39) |
L1867P |
possibly damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,562 (GRCm39) |
V84A |
possibly damaging |
Het |
| Sall2 |
G |
A |
14: 52,550,207 (GRCm39) |
P994L |
probably benign |
Het |
| Shtn1 |
A |
T |
19: 59,010,648 (GRCm39) |
I273N |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,373,699 (GRCm39) |
I40T |
probably benign |
Het |
| Slc29a2 |
T |
C |
19: 5,079,292 (GRCm39) |
V305A |
probably damaging |
Het |
| Taar2 |
T |
A |
10: 23,817,263 (GRCm39) |
F268I |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,956,901 (GRCm39) |
T422I |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,156 (GRCm39) |
F99L |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,597,219 (GRCm39) |
I19898T |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,936,912 (GRCm39) |
T3N |
probably damaging |
Het |
| Vars1 |
A |
T |
17: 35,232,857 (GRCm39) |
K900N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,441,348 (GRCm39) |
V170A |
possibly damaging |
Het |
| Zar1l |
G |
T |
5: 150,441,528 (GRCm39) |
Q33K |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,932,122 (GRCm39) |
V358A |
possibly damaging |
Het |
|
| Other mutations in Vmn2r53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Vmn2r53
|
APN |
7 |
12,334,835 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01997:Vmn2r53
|
APN |
7 |
12,316,373 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02442:Vmn2r53
|
APN |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02449:Vmn2r53
|
APN |
7 |
12,316,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02589:Vmn2r53
|
APN |
7 |
12,315,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02986:Vmn2r53
|
APN |
7 |
12,315,393 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03064:Vmn2r53
|
APN |
7 |
12,334,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03093:Vmn2r53
|
APN |
7 |
12,334,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03244:Vmn2r53
|
APN |
7 |
12,340,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Vmn2r53
|
APN |
7 |
12,340,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Vmn2r53
|
APN |
7 |
12,315,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03293:Vmn2r53
|
APN |
7 |
12,332,349 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0109:Vmn2r53
|
UTSW |
7 |
12,315,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Vmn2r53
|
UTSW |
7 |
12,316,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Vmn2r53
|
UTSW |
7 |
12,315,707 (GRCm39) |
missense |
probably benign |
|
|
R0881:Vmn2r53
|
UTSW |
7 |
12,334,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0894:Vmn2r53
|
UTSW |
7 |
12,335,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Vmn2r53
|
UTSW |
7 |
12,335,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Vmn2r53
|
UTSW |
7 |
12,315,429 (GRCm39) |
missense |
probably benign |
|
|
R1102:Vmn2r53
|
UTSW |
7 |
12,332,410 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1141:Vmn2r53
|
UTSW |
7 |
12,334,673 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1263:Vmn2r53
|
UTSW |
7 |
12,315,533 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1343:Vmn2r53
|
UTSW |
7 |
12,318,701 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1750:Vmn2r53
|
UTSW |
7 |
12,315,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Vmn2r53
|
UTSW |
7 |
12,334,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Vmn2r53
|
UTSW |
7 |
12,332,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2202:Vmn2r53
|
UTSW |
7 |
12,335,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Vmn2r53
|
UTSW |
7 |
12,315,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4372:Vmn2r53
|
UTSW |
7 |
12,315,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4655:Vmn2r53
|
UTSW |
7 |
12,315,932 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4663:Vmn2r53
|
UTSW |
7 |
12,334,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4708:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4710:Vmn2r53
|
UTSW |
7 |
12,335,129 (GRCm39) |
missense |
probably benign |
|
|
R4774:Vmn2r53
|
UTSW |
7 |
12,334,692 (GRCm39) |
nonsense |
probably null |
|
|
R4859:Vmn2r53
|
UTSW |
7 |
12,335,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Vmn2r53
|
UTSW |
7 |
12,315,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5561:Vmn2r53
|
UTSW |
7 |
12,335,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Vmn2r53
|
UTSW |
7 |
12,334,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r53
|
UTSW |
7 |
12,316,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6083:Vmn2r53
|
UTSW |
7 |
12,315,808 (GRCm39) |
missense |
probably benign |
|
|
R6312:Vmn2r53
|
UTSW |
7 |
12,332,566 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6700:Vmn2r53
|
UTSW |
7 |
12,315,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6783:Vmn2r53
|
UTSW |
7 |
12,335,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn2r53
|
UTSW |
7 |
12,340,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6889:Vmn2r53
|
UTSW |
7 |
12,335,069 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6940:Vmn2r53
|
UTSW |
7 |
12,316,343 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7100:Vmn2r53
|
UTSW |
7 |
12,315,513 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Vmn2r53
|
UTSW |
7 |
12,315,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7213:Vmn2r53
|
UTSW |
7 |
12,334,983 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7276:Vmn2r53
|
UTSW |
7 |
12,340,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7515:Vmn2r53
|
UTSW |
7 |
12,315,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7678:Vmn2r53
|
UTSW |
7 |
12,332,425 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7714:Vmn2r53
|
UTSW |
7 |
12,340,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r53
|
UTSW |
7 |
12,316,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Vmn2r53
|
UTSW |
7 |
12,335,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn2r53
|
UTSW |
7 |
12,315,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8478:Vmn2r53
|
UTSW |
7 |
12,340,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8853:Vmn2r53
|
UTSW |
7 |
12,315,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Vmn2r53
|
UTSW |
7 |
12,334,752 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8963:Vmn2r53
|
UTSW |
7 |
12,315,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Vmn2r53
|
UTSW |
7 |
12,315,435 (GRCm39) |
missense |
probably benign |
|
|
R9076:Vmn2r53
|
UTSW |
7 |
12,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Vmn2r53
|
UTSW |
7 |
12,335,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Vmn2r53
|
UTSW |
7 |
12,315,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r53
|
UTSW |
7 |
12,335,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCACTGTTAGAGTCTTAGCC -3'
(R):5'- AAATGGTGTCGTTGTGTCTCCC -3'
Sequencing Primer
(F):5'- CACTGTTAGAGTCTTAGCCAGAACG -3'
(R):5'- CCATAGACATGAAGAGATGCCTTCTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation