Incidental Mutation 'R4546:Vmn2r78'
ID |
333775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
041780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4546 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86603811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 663
(V663A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: V663A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: V663A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
464 |
5.9e-31 |
PFAM |
Pfam:NCD3G
|
507 |
559 |
8.1e-21 |
PFAM |
Pfam:7tm_3
|
592 |
827 |
1e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (65/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
G |
A |
14: 70,393,927 (GRCm39) |
S236L |
probably benign |
Het |
Ahcyl |
C |
T |
16: 45,974,330 (GRCm39) |
C349Y |
possibly damaging |
Het |
Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
Alpi |
T |
A |
1: 87,026,839 (GRCm39) |
Y413F |
probably damaging |
Het |
Asmt |
T |
C |
X: 169,110,230 (GRCm39) |
|
probably null |
Het |
Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
Bnc2 |
A |
G |
4: 84,210,213 (GRCm39) |
F744L |
probably benign |
Het |
Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,941,159 (GRCm39) |
K21R |
probably damaging |
Het |
Cenpf |
A |
C |
1: 189,386,847 (GRCm39) |
L1811R |
probably damaging |
Het |
Cfap91 |
C |
T |
16: 38,155,885 (GRCm39) |
V113I |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,853,349 (GRCm39) |
I43T |
possibly damaging |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Cylc2 |
A |
T |
4: 51,229,840 (GRCm39) |
D394V |
unknown |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dcaf8 |
T |
C |
1: 172,007,460 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,494,971 (GRCm39) |
Q1343L |
probably damaging |
Het |
Dnajc21 |
T |
C |
15: 10,447,183 (GRCm39) |
R522G |
probably benign |
Het |
F2rl3 |
C |
T |
8: 73,489,211 (GRCm39) |
A146V |
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,786,993 (GRCm39) |
S57G |
probably damaging |
Het |
Gm5507 |
T |
A |
18: 54,117,409 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
Il21r |
A |
G |
7: 125,228,071 (GRCm39) |
R181G |
probably damaging |
Het |
Il5ra |
G |
T |
6: 106,715,459 (GRCm39) |
S125* |
probably null |
Het |
Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
Lepr |
T |
A |
4: 101,671,838 (GRCm39) |
I954N |
probably benign |
Het |
Lims1 |
T |
C |
10: 58,254,612 (GRCm39) |
|
probably benign |
Het |
Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
Muc15 |
T |
C |
2: 110,567,844 (GRCm39) |
S330P |
probably damaging |
Het |
Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
Nkd2 |
T |
C |
13: 73,971,475 (GRCm39) |
D187G |
probably benign |
Het |
Nphp1 |
C |
T |
2: 127,607,939 (GRCm39) |
|
probably null |
Het |
Or10ag59 |
T |
C |
2: 87,405,530 (GRCm39) |
F34S |
probably benign |
Het |
Or1e19 |
T |
C |
11: 73,316,012 (GRCm39) |
N266D |
probably benign |
Het |
Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
Pdhx |
A |
T |
2: 102,903,742 (GRCm39) |
L18Q |
probably null |
Het |
Pear1 |
C |
T |
3: 87,661,968 (GRCm39) |
G469D |
probably damaging |
Het |
Plec |
T |
C |
15: 76,065,757 (GRCm39) |
T1506A |
probably benign |
Het |
Plod3 |
T |
A |
5: 137,017,801 (GRCm39) |
D192E |
possibly damaging |
Het |
Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,166 (GRCm39) |
D583G |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,809,841 (GRCm39) |
Y1079C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
Vcp |
T |
C |
4: 42,988,813 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,230,729 (GRCm39) |
E878G |
probably damaging |
Het |
Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
Het |
|
Other mutations in Vmn2r78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01302:Vmn2r78
|
APN |
7 |
86,564,569 (GRCm39) |
missense |
unknown |
|
IGL01473:Vmn2r78
|
APN |
7 |
86,569,520 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01767:Vmn2r78
|
APN |
7 |
86,603,643 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02322:Vmn2r78
|
APN |
7 |
86,570,687 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02537:Vmn2r78
|
APN |
7 |
86,603,496 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03297:Vmn2r78
|
APN |
7 |
86,569,969 (GRCm39) |
nonsense |
probably null |
|
ANU74:Vmn2r78
|
UTSW |
7 |
86,570,273 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0035:Vmn2r78
|
UTSW |
7 |
86,569,413 (GRCm39) |
missense |
probably benign |
0.22 |
R0081:Vmn2r78
|
UTSW |
7 |
86,572,235 (GRCm39) |
missense |
probably benign |
0.35 |
R0401:Vmn2r78
|
UTSW |
7 |
86,570,519 (GRCm39) |
missense |
probably benign |
0.04 |
R0751:Vmn2r78
|
UTSW |
7 |
86,603,588 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1341:Vmn2r78
|
UTSW |
7 |
86,571,477 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1386:Vmn2r78
|
UTSW |
7 |
86,564,615 (GRCm39) |
missense |
unknown |
|
R1526:Vmn2r78
|
UTSW |
7 |
86,571,465 (GRCm39) |
splice site |
probably null |
|
R1712:Vmn2r78
|
UTSW |
7 |
86,604,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Vmn2r78
|
UTSW |
7 |
86,569,997 (GRCm39) |
missense |
probably benign |
|
R1812:Vmn2r78
|
UTSW |
7 |
86,569,995 (GRCm39) |
missense |
probably benign |
0.38 |
R2011:Vmn2r78
|
UTSW |
7 |
86,604,287 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2144:Vmn2r78
|
UTSW |
7 |
86,603,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R2197:Vmn2r78
|
UTSW |
7 |
86,570,535 (GRCm39) |
missense |
probably damaging |
0.96 |
R2291:Vmn2r78
|
UTSW |
7 |
86,569,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Vmn2r78
|
UTSW |
7 |
86,569,953 (GRCm39) |
splice site |
probably benign |
|
R3023:Vmn2r78
|
UTSW |
7 |
86,604,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Vmn2r78
|
UTSW |
7 |
86,569,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4512:Vmn2r78
|
UTSW |
7 |
86,569,452 (GRCm39) |
missense |
probably benign |
0.00 |
R4515:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R4544:Vmn2r78
|
UTSW |
7 |
86,570,399 (GRCm39) |
missense |
probably benign |
|
R4872:Vmn2r78
|
UTSW |
7 |
86,603,916 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4928:Vmn2r78
|
UTSW |
7 |
86,603,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Vmn2r78
|
UTSW |
7 |
86,571,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R5265:Vmn2r78
|
UTSW |
7 |
86,569,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Vmn2r78
|
UTSW |
7 |
86,570,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R5442:Vmn2r78
|
UTSW |
7 |
86,569,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5567:Vmn2r78
|
UTSW |
7 |
86,570,737 (GRCm39) |
missense |
probably benign |
0.17 |
R5572:Vmn2r78
|
UTSW |
7 |
86,564,720 (GRCm39) |
missense |
probably benign |
0.01 |
R5636:Vmn2r78
|
UTSW |
7 |
86,603,637 (GRCm39) |
missense |
probably damaging |
0.99 |
R5901:Vmn2r78
|
UTSW |
7 |
86,603,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5977:Vmn2r78
|
UTSW |
7 |
86,604,115 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Vmn2r78
|
UTSW |
7 |
86,569,541 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6276:Vmn2r78
|
UTSW |
7 |
86,570,318 (GRCm39) |
missense |
probably benign |
0.00 |
R6386:Vmn2r78
|
UTSW |
7 |
86,571,545 (GRCm39) |
nonsense |
probably null |
|
R6724:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R6852:Vmn2r78
|
UTSW |
7 |
86,603,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6896:Vmn2r78
|
UTSW |
7 |
86,571,558 (GRCm39) |
missense |
probably benign |
0.10 |
R7385:Vmn2r78
|
UTSW |
7 |
86,571,633 (GRCm39) |
missense |
probably benign |
0.18 |
R7578:Vmn2r78
|
UTSW |
7 |
86,603,552 (GRCm39) |
nonsense |
probably null |
|
R7680:Vmn2r78
|
UTSW |
7 |
86,604,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Vmn2r78
|
UTSW |
7 |
86,570,343 (GRCm39) |
missense |
probably benign |
0.00 |
R7852:Vmn2r78
|
UTSW |
7 |
86,569,378 (GRCm39) |
nonsense |
probably null |
|
R8031:Vmn2r78
|
UTSW |
7 |
86,604,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Vmn2r78
|
UTSW |
7 |
86,571,695 (GRCm39) |
missense |
probably benign |
0.01 |
R8085:Vmn2r78
|
UTSW |
7 |
86,603,998 (GRCm39) |
missense |
probably benign |
0.00 |
R8163:Vmn2r78
|
UTSW |
7 |
86,603,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R8501:Vmn2r78
|
UTSW |
7 |
86,570,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R8749:Vmn2r78
|
UTSW |
7 |
86,603,513 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9209:Vmn2r78
|
UTSW |
7 |
86,569,431 (GRCm39) |
missense |
probably benign |
0.08 |
RF018:Vmn2r78
|
UTSW |
7 |
86,603,639 (GRCm39) |
nonsense |
probably null |
|
Z1177:Vmn2r78
|
UTSW |
7 |
86,603,982 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Vmn2r78
|
UTSW |
7 |
86,570,415 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAGACACTCCCATAGTCAAGG -3'
(R):5'- GCAGTCACTGAACCTTTGTTGC -3'
Sequencing Primer
(F):5'- GGCCAATAATGAAACTCTCAGCTATG -3'
(R):5'- TGTGTAGATCAGCATCAACAAATGG -3'
|
Posted On |
2015-08-18 |