Incidental Mutation 'R9042:Vmn2r53'
ID |
687778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r53
|
Ensembl Gene |
ENSMUSG00000096002 |
Gene Name |
vomeronasal 2, receptor 53 |
Synonyms |
EG637908 |
MMRRC Submission |
068869-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R9042 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12315435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 795
(C795R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
AlphaFold |
A0A3B2W4A7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170412
AA Change: C795R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126979 Gene: ENSMUSG00000096002 AA Change: C795R
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,152,134 (GRCm39) |
K208R |
probably benign |
Het |
Amh |
T |
C |
10: 80,642,443 (GRCm39) |
M242T |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,488,510 (GRCm39) |
Y440C |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,538,263 (GRCm39) |
E499* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,065 (GRCm39) |
I967V |
probably benign |
Het |
Cpa6 |
T |
C |
1: 10,407,515 (GRCm39) |
T341A |
probably benign |
Het |
Cyp26b1 |
T |
A |
6: 84,553,590 (GRCm39) |
Y263F |
probably benign |
Het |
Ecm2 |
C |
A |
13: 49,682,439 (GRCm39) |
Y489* |
probably null |
Het |
Gpr22 |
C |
A |
12: 31,759,853 (GRCm39) |
V90L |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,836,438 (GRCm39) |
V516M |
probably benign |
Het |
Ipo5 |
C |
T |
14: 121,160,547 (GRCm39) |
S188L |
probably benign |
Het |
Kcnh6 |
T |
A |
11: 105,908,464 (GRCm39) |
I360N |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,392,029 (GRCm39) |
D512Y |
|
Het |
Lrpprc |
C |
T |
17: 85,059,736 (GRCm39) |
|
probably null |
Het |
Lta4h |
A |
G |
10: 93,318,850 (GRCm39) |
K547R |
probably benign |
Het |
Nacad |
G |
C |
11: 6,548,948 (GRCm39) |
P1340R |
possibly damaging |
Het |
Ncapd2 |
T |
C |
6: 125,156,301 (GRCm39) |
K495E |
probably benign |
Het |
Ndufaf7 |
A |
T |
17: 79,245,968 (GRCm39) |
|
probably null |
Het |
Nsrp1 |
A |
G |
11: 76,941,477 (GRCm39) |
V77A |
probably benign |
Het |
Or1f19 |
A |
T |
16: 3,411,132 (GRCm39) |
S291C |
probably damaging |
Het |
Or8k3b |
T |
C |
2: 86,521,139 (GRCm39) |
Y60C |
probably damaging |
Het |
P2ry12 |
A |
G |
3: 59,125,456 (GRCm39) |
V73A |
probably damaging |
Het |
Pafah1b1 |
G |
A |
11: 74,574,493 (GRCm39) |
T231I |
probably benign |
Het |
Parp11 |
C |
A |
6: 127,448,615 (GRCm39) |
Y77* |
probably null |
Het |
Phc3 |
T |
A |
3: 30,983,916 (GRCm39) |
T712S |
unknown |
Het |
Pkm |
T |
A |
9: 59,579,220 (GRCm39) |
I335N |
probably damaging |
Het |
Pmpca |
A |
G |
2: 26,283,581 (GRCm39) |
T417A |
probably benign |
Het |
Pot1b |
C |
T |
17: 56,006,991 (GRCm39) |
|
probably null |
Het |
Prrc1 |
T |
A |
18: 57,507,764 (GRCm39) |
|
probably null |
Het |
Psg18 |
A |
T |
7: 18,083,047 (GRCm39) |
N369K |
probably benign |
Het |
Pum3 |
T |
A |
19: 27,399,791 (GRCm39) |
Y214F |
probably damaging |
Het |
Reln |
G |
A |
5: 22,253,036 (GRCm39) |
T637M |
probably damaging |
Het |
Rpe65 |
A |
T |
3: 159,321,292 (GRCm39) |
Y368F |
probably damaging |
Het |
Serpina3a |
A |
G |
12: 104,082,362 (GRCm39) |
D45G |
probably benign |
Het |
Serpinb3c |
T |
A |
1: 107,199,731 (GRCm39) |
L263F |
probably damaging |
Het |
Slc25a23 |
C |
T |
17: 57,352,553 (GRCm39) |
V444I |
probably damaging |
Het |
Slc40a1 |
C |
T |
1: 45,948,621 (GRCm39) |
G553D |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,816,037 (GRCm39) |
Q665R |
possibly damaging |
Het |
Spata31h1 |
A |
G |
10: 82,123,185 (GRCm39) |
I3275T |
probably benign |
Het |
Taf7 |
C |
A |
18: 37,776,223 (GRCm39) |
D115Y |
probably damaging |
Het |
Tanc1 |
G |
C |
2: 59,673,766 (GRCm39) |
A1624P |
probably benign |
Het |
Tmed4 |
T |
C |
11: 6,224,405 (GRCm39) |
D85G |
probably benign |
Het |
Tmed6 |
A |
G |
8: 107,790,385 (GRCm39) |
V138A |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,720,310 (GRCm39) |
T91A |
probably benign |
Het |
Ube4b |
C |
G |
4: 149,444,833 (GRCm39) |
A476P |
probably benign |
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 |
R4615:Vmn2r53
|
UTSW |
7 |
12,316,229 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTTTGCGCACTTTGGCATTG -3'
(R):5'- GTGGCTGTAGAGATCTTTTCCATCC -3'
Sequencing Primer
(F):5'- TTGACATGCTCACTGGCAAG -3'
(R):5'- GTAGAGATCTTTTCCATCCTGGCC -3'
|
Posted On |
2021-11-19 |