Incidental Mutation 'R5061:Vmn2r53'
| ID |
386616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r53
|
| Ensembl Gene |
ENSMUSG00000096002 |
| Gene Name |
vomeronasal 2, receptor 53 |
| Synonyms |
EG637908 |
| MMRRC Submission |
042651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R5061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12315397-12342583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 12315741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 693
(S693A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170412]
|
| AlphaFold |
A0A3B2W4A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170412
AA Change: S693A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: S693A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,450,953 (GRCm39) |
H53R |
probably benign |
Het |
| Abcg1 |
A |
G |
17: 31,311,366 (GRCm39) |
K124E |
probably damaging |
Het |
| Acot4 |
G |
T |
12: 84,085,475 (GRCm39) |
R64L |
probably benign |
Het |
| Adam22 |
G |
C |
5: 8,230,238 (GRCm39) |
|
probably benign |
Het |
| Add2 |
G |
A |
6: 86,064,029 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
G |
A |
1: 25,107,209 (GRCm39) |
|
probably benign |
Het |
| Akap8l |
T |
G |
17: 32,551,868 (GRCm39) |
K441T |
probably damaging |
Het |
| Aspn |
T |
A |
13: 49,720,080 (GRCm39) |
S365R |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,710,569 (GRCm39) |
K788Q |
probably damaging |
Het |
| Atxn2l |
G |
T |
7: 126,099,375 (GRCm39) |
H135N |
probably damaging |
Het |
| Borcs8 |
T |
G |
8: 70,593,008 (GRCm39) |
|
probably null |
Het |
| Col5a1 |
G |
A |
2: 27,842,390 (GRCm39) |
D422N |
unknown |
Het |
| Cstad |
A |
T |
2: 30,498,275 (GRCm39) |
T37S |
unknown |
Het |
| Dgkq |
A |
T |
5: 108,801,989 (GRCm39) |
D455E |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,161 (GRCm39) |
|
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,915,288 (GRCm39) |
I84V |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eif3e |
A |
T |
15: 43,115,657 (GRCm39) |
W370R |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,431,689 (GRCm39) |
D323E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,021,749 (GRCm39) |
L1408P |
probably benign |
Het |
| Fam110d |
T |
C |
4: 133,979,041 (GRCm39) |
T146A |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,353,992 (GRCm39) |
G328S |
probably benign |
Het |
| Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm10650 |
T |
A |
3: 127,833,666 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14226 |
T |
A |
2: 154,867,106 (GRCm39) |
H354Q |
probably benign |
Het |
| Gm15056 |
T |
C |
8: 21,390,758 (GRCm39) |
T60A |
probably benign |
Het |
| Hsd11b1 |
A |
T |
1: 192,924,553 (GRCm39) |
N6K |
probably benign |
Het |
| Ighv1-36 |
T |
C |
12: 114,843,742 (GRCm39) |
I39M |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kdm7a |
G |
A |
6: 39,128,386 (GRCm39) |
P482S |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,840,579 (GRCm39) |
E607* |
probably null |
Het |
| Lao1 |
T |
A |
4: 118,824,673 (GRCm39) |
S252T |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,741,650 (GRCm39) |
F355S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,137,043 (GRCm39) |
F421S |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,268,812 (GRCm39) |
E530G |
probably benign |
Het |
| Nifk |
T |
C |
1: 118,260,669 (GRCm39) |
*270R |
probably null |
Het |
| Ocln |
T |
C |
13: 100,676,106 (GRCm39) |
Y129C |
probably damaging |
Het |
| Or10ag60 |
C |
T |
2: 87,438,176 (GRCm39) |
T148I |
probably benign |
Het |
| Or4f54 |
T |
A |
2: 111,122,832 (GRCm39) |
L73H |
probably damaging |
Het |
| Or52l1 |
T |
A |
7: 104,829,864 (GRCm39) |
I219F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,349 (GRCm39) |
C177* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,412 (GRCm39) |
K58E |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,265,196 (GRCm39) |
T123A |
probably damaging |
Het |
| Rap1gap |
T |
A |
4: 137,447,744 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,017,217 (GRCm39) |
F54L |
possibly damaging |
Het |
| Rwdd3 |
G |
A |
3: 120,953,432 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,650,422 (GRCm39) |
K138E |
possibly damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,359 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
A |
G |
1: 107,468,701 (GRCm39) |
T115A |
probably benign |
Het |
| Slco1a8 |
T |
A |
6: 141,954,414 (GRCm39) |
M20L |
probably benign |
Het |
| Slx4ip |
T |
G |
2: 136,885,930 (GRCm39) |
F83L |
probably damaging |
Het |
| St3gal1 |
A |
T |
15: 66,980,078 (GRCm39) |
S274T |
probably benign |
Het |
| Stab1 |
A |
C |
14: 30,885,056 (GRCm39) |
C121W |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,743,249 (GRCm39) |
L1149P |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,048,954 (GRCm39) |
I77R |
probably benign |
Het |
| Tbk1 |
T |
G |
10: 121,412,241 (GRCm39) |
E47A |
possibly damaging |
Het |
| Tert |
C |
T |
13: 73,782,397 (GRCm39) |
T557I |
probably damaging |
Het |
| Tfap2c |
A |
G |
2: 172,393,947 (GRCm39) |
D252G |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,506,983 (GRCm39) |
C586F |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,261,750 (GRCm39) |
N663T |
probably benign |
Het |
| Tmem245 |
T |
A |
4: 56,946,945 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Uhrf1 |
G |
T |
17: 56,627,542 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
A |
12: 103,134,700 (GRCm39) |
M2417K |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,471 (GRCm39) |
V5011A |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,840 (GRCm39) |
V47A |
possibly damaging |
Het |
| Vps54 |
G |
A |
11: 21,269,881 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,907,318 (GRCm39) |
|
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 |
|
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'- TGAAGATGCCACCCAGAAGC -3'
(R):5'- TCTGGTGCTTCTACCTCAGTGG -3'
Sequencing Primer
(F):5'- CAGAAGCCCAGCAGTGG -3'
(R):5'- GGTCCTCATTGCTTCCTTAATACAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation