Incidental Mutation 'R4653:Vmn2r63'
| ID |
351473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r63
|
| Ensembl Gene |
ENSMUSG00000090751 |
| Gene Name |
vomeronasal 2, receptor 63 |
| Synonyms |
EG435975 |
| MMRRC Submission |
041913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4653 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42552675-42583213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42553114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 714
(I714T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163803]
|
| AlphaFold |
E9Q0K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163803
AA Change: I714T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129089
Gene: ENSMUSG00000090751
AA Change: I714T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
3.5e-43 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
5.1e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
3.5e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,264 (GRCm39) |
T351A |
probably benign |
Het |
| 3930402G23Rik |
A |
T |
8: 10,976,075 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| Abca4 |
G |
T |
3: 121,932,230 (GRCm39) |
E295* |
probably null |
Het |
| Abi3 |
T |
C |
11: 95,723,637 (GRCm39) |
I215V |
probably benign |
Het |
| Adhfe1 |
G |
T |
1: 9,620,803 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
G |
4: 116,495,156 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
A |
15: 27,590,447 (GRCm39) |
W344R |
probably null |
Het |
| Cast |
A |
G |
13: 74,894,133 (GRCm39) |
S171P |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,873,955 (GRCm39) |
|
probably null |
Het |
| Cd180 |
T |
A |
13: 102,841,416 (GRCm39) |
L154H |
probably damaging |
Het |
| Cnp |
A |
T |
11: 100,467,342 (GRCm39) |
D95V |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,461,897 (GRCm39) |
I20T |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,050,440 (GRCm39) |
K3042R |
possibly damaging |
Het |
| Dpy19l1 |
A |
C |
9: 24,393,350 (GRCm39) |
S140A |
possibly damaging |
Het |
| Dpys |
C |
A |
15: 39,656,642 (GRCm39) |
R475L |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,078,199 (GRCm39) |
N276S |
probably damaging |
Het |
| Ext2 |
T |
C |
2: 93,526,504 (GRCm39) |
S711G |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,129,828 (GRCm39) |
Y223C |
probably damaging |
Het |
| Folh1 |
C |
A |
7: 86,393,633 (GRCm39) |
G360* |
probably null |
Het |
| Garin5b |
T |
C |
7: 4,761,054 (GRCm39) |
R553G |
possibly damaging |
Het |
| Gcat |
T |
C |
15: 78,919,487 (GRCm39) |
S151P |
probably damaging |
Het |
| Gcm2 |
A |
T |
13: 41,256,317 (GRCm39) |
D477E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,395,869 (GRCm39) |
N468S |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,273,272 (GRCm39) |
I622V |
probably benign |
Het |
| Hsd17b13 |
G |
A |
5: 104,113,702 (GRCm39) |
L251F |
probably damaging |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,599,477 (GRCm39) |
D486G |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,922,801 (GRCm39) |
I1366V |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,421,597 (GRCm39) |
H441Q |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,882,511 (GRCm39) |
F514L |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,770,813 (GRCm39) |
|
probably null |
Het |
| Nomo1 |
G |
T |
7: 45,711,237 (GRCm39) |
A639S |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,924,027 (GRCm39) |
D136G |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,674,654 (GRCm39) |
D87E |
probably damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,325,871 (GRCm39) |
D108E |
probably benign |
Het |
| Pex26 |
C |
T |
6: 121,167,084 (GRCm39) |
S231L |
probably damaging |
Het |
| Prpf38b |
G |
A |
3: 108,811,408 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
A |
T |
13: 35,083,954 (GRCm39) |
M908L |
probably benign |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Ryr3 |
T |
A |
2: 112,483,108 (GRCm39) |
N4213I |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,831 (GRCm39) |
V63A |
probably damaging |
Het |
| Sppl2a |
C |
T |
2: 126,762,233 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,455,580 (GRCm39) |
W3077R |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,769 (GRCm39) |
M230K |
probably damaging |
Het |
| Sv2a |
T |
C |
3: 96,098,078 (GRCm39) |
|
probably null |
Het |
| Themis2 |
A |
G |
4: 132,510,287 (GRCm39) |
S638P |
probably benign |
Het |
| Trabd |
A |
G |
15: 88,970,042 (GRCm39) |
Y346C |
probably damaging |
Het |
| Trim38 |
A |
T |
13: 23,966,952 (GRCm39) |
D133V |
probably damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,320 (GRCm39) |
V16I |
probably benign |
Het |
| Ube2b |
A |
G |
11: 51,886,199 (GRCm39) |
|
probably null |
Het |
| Usp13 |
A |
T |
3: 32,892,073 (GRCm39) |
Q84L |
probably damaging |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,997 (GRCm39) |
G294V |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,228 (GRCm39) |
H457Q |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,318,960 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zbp1 |
G |
A |
2: 173,049,608 (GRCm39) |
P385S |
possibly damaging |
Het |
|
| Other mutations in Vmn2r63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Vmn2r63
|
APN |
7 |
42,553,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01765:Vmn2r63
|
APN |
7 |
42,552,788 (GRCm39) |
missense |
probably benign |
|
|
IGL02203:Vmn2r63
|
APN |
7 |
42,553,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02825:Vmn2r63
|
APN |
7 |
42,576,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03155:Vmn2r63
|
APN |
7 |
42,552,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Vmn2r63
|
APN |
7 |
42,578,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Vmn2r63
|
APN |
7 |
42,577,368 (GRCm39) |
missense |
probably benign |
0.42 |
|
PIT4280001:Vmn2r63
|
UTSW |
7 |
42,553,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Vmn2r63
|
UTSW |
7 |
42,576,514 (GRCm39) |
splice site |
probably benign |
|
|
R0328:Vmn2r63
|
UTSW |
7 |
42,552,699 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0344:Vmn2r63
|
UTSW |
7 |
42,553,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0554:Vmn2r63
|
UTSW |
7 |
42,583,129 (GRCm39) |
nonsense |
probably null |
|
|
R0555:Vmn2r63
|
UTSW |
7 |
42,577,952 (GRCm39) |
nonsense |
probably null |
|
|
R0685:Vmn2r63
|
UTSW |
7 |
42,577,434 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0751:Vmn2r63
|
UTSW |
7 |
42,577,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1349:Vmn2r63
|
UTSW |
7 |
42,578,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1372:Vmn2r63
|
UTSW |
7 |
42,578,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1416:Vmn2r63
|
UTSW |
7 |
42,577,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Vmn2r63
|
UTSW |
7 |
42,578,015 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1563:Vmn2r63
|
UTSW |
7 |
42,553,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Vmn2r63
|
UTSW |
7 |
42,577,635 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1693:Vmn2r63
|
UTSW |
7 |
42,577,743 (GRCm39) |
missense |
probably benign |
|
|
R1698:Vmn2r63
|
UTSW |
7 |
42,583,038 (GRCm39) |
missense |
probably benign |
|
|
R1753:Vmn2r63
|
UTSW |
7 |
42,577,669 (GRCm39) |
nonsense |
probably null |
|
|
R2136:Vmn2r63
|
UTSW |
7 |
42,576,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2175:Vmn2r63
|
UTSW |
7 |
42,583,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2261:Vmn2r63
|
UTSW |
7 |
42,578,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2262:Vmn2r63
|
UTSW |
7 |
42,578,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2263:Vmn2r63
|
UTSW |
7 |
42,578,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3413:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3426:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3427:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3802:Vmn2r63
|
UTSW |
7 |
42,552,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4319:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4321:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4323:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4346:Vmn2r63
|
UTSW |
7 |
42,577,537 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4568:Vmn2r63
|
UTSW |
7 |
42,583,250 (GRCm39) |
splice site |
probably null |
|
|
R4649:Vmn2r63
|
UTSW |
7 |
42,553,114 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4679:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4734:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4741:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4748:Vmn2r63
|
UTSW |
7 |
42,577,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4806:Vmn2r63
|
UTSW |
7 |
42,576,314 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4933:Vmn2r63
|
UTSW |
7 |
42,553,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5198:Vmn2r63
|
UTSW |
7 |
42,553,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5399:Vmn2r63
|
UTSW |
7 |
42,577,701 (GRCm39) |
missense |
probably benign |
|
|
R5400:Vmn2r63
|
UTSW |
7 |
42,577,635 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6158:Vmn2r63
|
UTSW |
7 |
42,583,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Vmn2r63
|
UTSW |
7 |
42,578,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6267:Vmn2r63
|
UTSW |
7 |
42,578,059 (GRCm39) |
splice site |
probably null |
|
|
R6362:Vmn2r63
|
UTSW |
7 |
42,552,721 (GRCm39) |
missense |
probably benign |
|
|
R6706:Vmn2r63
|
UTSW |
7 |
42,578,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Vmn2r63
|
UTSW |
7 |
42,552,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7104:Vmn2r63
|
UTSW |
7 |
42,577,959 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7503:Vmn2r63
|
UTSW |
7 |
42,583,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7506:Vmn2r63
|
UTSW |
7 |
42,576,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Vmn2r63
|
UTSW |
7 |
42,576,406 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7658:Vmn2r63
|
UTSW |
7 |
42,574,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Vmn2r63
|
UTSW |
7 |
42,576,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7702:Vmn2r63
|
UTSW |
7 |
42,577,553 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7918:Vmn2r63
|
UTSW |
7 |
42,552,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Vmn2r63
|
UTSW |
7 |
42,576,441 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8973:Vmn2r63
|
UTSW |
7 |
42,577,919 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9024:Vmn2r63
|
UTSW |
7 |
42,577,874 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9154:Vmn2r63
|
UTSW |
7 |
42,576,413 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9731:Vmn2r63
|
UTSW |
7 |
42,553,361 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1088:Vmn2r63
|
UTSW |
7 |
42,577,983 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGCTGAATGACAGGCAC -3'
(R):5'- TGCAGCAAACAGCATTTGGAAC -3'
Sequencing Primer
(F):5'- CTGAATGACAGGCACTTGGC -3'
(R):5'- CAGCATTTGGAACTTTGTTCACTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation