Incidental Mutation 'R6004:Vmn2r53'
| ID |
478507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
044182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12316328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 497
(H497R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170412
AA Change: H497R
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: H497R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
C |
T |
3: 97,082,997 (GRCm39) |
A336V |
probably benign |
Het |
| Adam5 |
T |
A |
8: 25,271,685 (GRCm39) |
Y574F |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,257 (GRCm39) |
W80R |
probably damaging |
Het |
| Bmal1 |
A |
T |
7: 112,879,934 (GRCm39) |
D22V |
probably damaging |
Het |
| Cars2 |
A |
G |
8: 11,597,743 (GRCm39) |
I111T |
probably damaging |
Het |
| Chrd |
T |
C |
16: 20,553,987 (GRCm39) |
L317S |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,664 (GRCm39) |
D262G |
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,216,254 (GRCm39) |
S450P |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,520 (GRCm39) |
D164G |
probably benign |
Het |
| Gpx6 |
A |
C |
13: 21,503,239 (GRCm39) |
T218P |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,239 (GRCm39) |
N351S |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,510 (GRCm39) |
E241G |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,255 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ighv1-65 |
C |
T |
12: 115,496,056 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp4a |
T |
C |
1: 37,411,451 (GRCm39) |
S372P |
probably damaging |
Het |
| Itgax |
A |
T |
7: 127,730,624 (GRCm39) |
H114L |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,111,781 (GRCm39) |
F746L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,393,362 (GRCm39) |
V688M |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,922,923 (GRCm39) |
V28A |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,463 (GRCm39) |
D166V |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,176,377 (GRCm39) |
C982Y |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,478,922 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
T |
16: 48,980,062 (GRCm39) |
M1395L |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,113,950 (GRCm39) |
E642G |
probably benign |
Het |
| Nrg4 |
T |
C |
9: 55,166,667 (GRCm39) |
T68A |
possibly damaging |
Het |
| Or10ag60 |
T |
A |
2: 87,438,253 (GRCm39) |
F174I |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,343 (GRCm39) |
N47D |
probably benign |
Het |
| Or4f60 |
G |
T |
2: 111,902,371 (GRCm39) |
L186I |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,759 (GRCm39) |
Y118N |
probably benign |
Het |
| Or8b41 |
A |
G |
9: 38,055,256 (GRCm39) |
K270R |
probably damaging |
Het |
| Or9g20 |
A |
T |
2: 85,629,726 (GRCm39) |
V296E |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,715,390 (GRCm39) |
I429F |
probably damaging |
Het |
| Pank4 |
G |
T |
4: 155,061,678 (GRCm39) |
G532C |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,710,315 (GRCm39) |
T1150A |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,224 (GRCm39) |
|
probably null |
Het |
| Prkrip1 |
A |
G |
5: 136,226,636 (GRCm39) |
M68T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,247,293 (GRCm39) |
I123N |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,267,808 (GRCm39) |
T825P |
unknown |
Het |
| Rttn |
T |
C |
18: 89,039,816 (GRCm39) |
I839T |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,707 (GRCm39) |
Q1042* |
probably null |
Het |
| Skint11 |
A |
G |
4: 114,088,925 (GRCm39) |
T240A |
probably benign |
Het |
| Speg |
A |
T |
1: 75,392,247 (GRCm39) |
K1382* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,513,282 (GRCm39) |
D68E |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,287,468 (GRCm39) |
D131V |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,926,570 (GRCm39) |
C152S |
probably damaging |
Het |
| Timm44 |
G |
T |
8: 4,317,747 (GRCm39) |
D191E |
probably benign |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,987 (GRCm39) |
V148A |
probably damaging |
Het |
| Trp63 |
T |
C |
16: 25,582,146 (GRCm39) |
|
probably null |
Het |
| Tusc3 |
G |
C |
8: 39,538,560 (GRCm39) |
G200R |
probably damaging |
Het |
| Vmn2r10 |
T |
G |
5: 109,146,944 (GRCm39) |
N448T |
probably benign |
Het |
| Vmn2r50 |
G |
A |
7: 9,783,986 (GRCm39) |
R163C |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,176,131 (GRCm39) |
V83A |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,075,858 (GRCm39) |
N861I |
possibly damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,769 (GRCm39) |
C253R |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,556 (GRCm39) |
T84A |
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 |
|
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'- TCTCCCAAGGAAGAGCAAGG -3'
(R):5'- GCCTATTCTAACCCTGTTCACCAAG -3'
Sequencing Primer
(F):5'- GCAAGGCACACAGGGCAC -3'
(R):5'- CTAACCCTGTTCACCAAGATTAATTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation