Incidental Mutation 'R5729:Vmn2r53'
| ID |
452655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
043346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12334733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 309
(E309G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118665
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170412
AA Change: E309G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: E309G
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,623,824 (GRCm39) |
V46E |
possibly damaging |
Het |
| Aldoart2 |
T |
C |
12: 55,612,690 (GRCm39) |
V205A |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,120,938 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,851 (GRCm39) |
K29E |
possibly damaging |
Het |
| AU040320 |
T |
A |
4: 126,724,208 (GRCm39) |
D428E |
probably damaging |
Het |
| Bend7 |
T |
C |
2: 4,768,085 (GRCm39) |
L347P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,140,037 (GRCm39) |
L9* |
probably null |
Het |
| Ccdc103 |
A |
T |
11: 102,773,904 (GRCm39) |
I50F |
probably damaging |
Het |
| Cdc5l |
T |
C |
17: 45,737,495 (GRCm39) |
I88V |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,584,199 (GRCm39) |
V86A |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dgkd |
C |
T |
1: 87,864,054 (GRCm39) |
Q90* |
probably null |
Het |
| Dnajc21 |
A |
T |
15: 10,449,682 (GRCm39) |
D446E |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,916,292 (GRCm39) |
R648S |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,858,450 (GRCm39) |
V226A |
probably damaging |
Het |
| Gm5499 |
A |
T |
17: 87,385,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,172 (GRCm39) |
E271* |
probably null |
Het |
| Krt86 |
T |
G |
15: 101,374,429 (GRCm39) |
V274G |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,960,192 (GRCm39) |
C151S |
probably benign |
Het |
| Mapk3 |
A |
T |
7: 126,363,979 (GRCm39) |
T254S |
probably benign |
Het |
| Mat2b |
A |
T |
11: 40,573,373 (GRCm39) |
M202K |
probably damaging |
Het |
| Mos |
A |
G |
4: 3,870,971 (GRCm39) |
Y282H |
probably benign |
Het |
| Myo3b |
A |
G |
2: 69,936,083 (GRCm39) |
K108R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,220 (GRCm39) |
Y417H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,159,984 (GRCm39) |
I412N |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,272 (GRCm39) |
I278N |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,335,999 (GRCm39) |
V73D |
probably damaging |
Het |
| Pigv |
A |
T |
4: 133,392,134 (GRCm39) |
Y345* |
probably null |
Het |
| Pitpnc1 |
G |
T |
11: 107,228,264 (GRCm39) |
F34L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,942,838 (GRCm39) |
L1282P |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,762 (GRCm39) |
D384G |
probably benign |
Het |
| Ppp2ca |
G |
A |
11: 52,008,856 (GRCm39) |
E119K |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,459 (GRCm39) |
N323I |
probably damaging |
Het |
| Rasa4 |
T |
C |
5: 136,122,016 (GRCm39) |
V108A |
probably benign |
Het |
| Rbm14 |
A |
G |
19: 4,852,577 (GRCm39) |
|
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,434,795 (GRCm39) |
V657E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,250,371 (GRCm39) |
N237K |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,397,617 (GRCm39) |
Q1302R |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,645 (GRCm39) |
M287V |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,572,301 (GRCm39) |
|
probably null |
Het |
| Sema6a |
C |
T |
18: 47,414,410 (GRCm39) |
C506Y |
probably damaging |
Het |
| Senp1 |
G |
T |
15: 97,964,412 (GRCm39) |
H267Q |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,578 (GRCm39) |
E100G |
unknown |
Het |
| Slc38a11 |
A |
T |
2: 65,147,365 (GRCm39) |
C371S |
probably benign |
Het |
| Snai3 |
G |
A |
8: 123,181,629 (GRCm39) |
A276V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spag6 |
C |
T |
2: 18,720,525 (GRCm39) |
T99I |
probably benign |
Het |
| Spop |
A |
G |
11: 95,376,675 (GRCm39) |
I243V |
possibly damaging |
Het |
| Sra1 |
A |
T |
18: 36,800,496 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,288,485 (GRCm39) |
S140T |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d2b |
G |
C |
9: 90,089,925 (GRCm39) |
A868G |
probably benign |
Het |
| Tead2 |
A |
G |
7: 44,870,166 (GRCm39) |
|
probably benign |
Het |
| Tmem53 |
C |
A |
4: 117,125,669 (GRCm39) |
H261N |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,844,627 (GRCm39) |
S932T |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,339 (GRCm39) |
D827E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,758,806 (GRCm39) |
S1026G |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,484,626 (GRCm39) |
A1760T |
probably 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 |
|
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 |
|
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'- AGCAAAACCATTATGCCTGTTCC -3'
(R):5'- GCCTTCTGTATCACAGCAGC -3'
Sequencing Primer
(F):5'- GTTCCCCAACCATCTCTGAAG -3'
(R):5'- TATCACAGCAGCAGGGCTATTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation