Incidental Mutation 'R4512:Vmn2r78'
ID |
331268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
041587-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4512 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86569452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 115
(S115F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170835
AA Change: S115F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: S115F
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,978,573 (GRCm39) |
D573V |
probably damaging |
Het |
Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,478,120 (GRCm39) |
|
probably benign |
Het |
Aopep |
A |
T |
13: 63,304,481 (GRCm39) |
T497S |
probably damaging |
Het |
Atp6v1h |
T |
C |
1: 5,168,358 (GRCm39) |
|
probably null |
Het |
Aup1 |
C |
T |
6: 83,033,368 (GRCm39) |
R248* |
probably null |
Het |
BC016579 |
C |
A |
16: 45,453,363 (GRCm39) |
A151S |
possibly damaging |
Het |
Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,543,259 (GRCm39) |
D799G |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,155,399 (GRCm39) |
R739W |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,085,009 (GRCm39) |
C553* |
probably null |
Het |
Fhl4 |
A |
G |
10: 84,934,578 (GRCm39) |
S68P |
possibly damaging |
Het |
Gcc1 |
T |
C |
6: 28,419,208 (GRCm39) |
E375G |
probably benign |
Het |
Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
Hspbap1 |
C |
T |
16: 35,607,611 (GRCm39) |
S39F |
probably damaging |
Het |
Lmln |
G |
A |
16: 32,908,507 (GRCm39) |
R311Q |
probably benign |
Het |
Ly6e |
T |
A |
15: 74,829,682 (GRCm39) |
V24D |
probably damaging |
Het |
Magi3 |
T |
C |
3: 103,996,871 (GRCm39) |
T225A |
probably damaging |
Het |
Mark1 |
C |
A |
1: 184,639,286 (GRCm39) |
R577L |
probably benign |
Het |
Mlxip |
G |
T |
5: 123,533,128 (GRCm39) |
V46L |
probably benign |
Het |
Mrpl40 |
T |
C |
16: 18,691,308 (GRCm39) |
D134G |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,532,860 (GRCm39) |
Y1300C |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
Ndst3 |
T |
C |
3: 123,465,315 (GRCm39) |
D219G |
probably damaging |
Het |
Nfkbie |
C |
T |
17: 45,867,165 (GRCm39) |
S100L |
probably benign |
Het |
Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
Odf2 |
C |
T |
2: 29,816,109 (GRCm39) |
|
probably null |
Het |
Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
Or4n4b |
C |
A |
14: 50,536,453 (GRCm39) |
L104F |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
Otud7a |
T |
C |
7: 63,379,625 (GRCm39) |
F284L |
probably benign |
Het |
Parg |
T |
C |
14: 31,984,693 (GRCm39) |
V241A |
probably damaging |
Het |
Pla2g4a |
T |
A |
1: 149,736,802 (GRCm39) |
|
probably null |
Het |
Psd4 |
C |
T |
2: 24,292,901 (GRCm39) |
R684C |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,432,902 (GRCm39) |
|
probably benign |
Het |
R3hcc1 |
A |
G |
14: 69,936,060 (GRCm39) |
S250P |
probably damaging |
Het |
Rere |
T |
A |
4: 150,561,909 (GRCm39) |
Y272N |
unknown |
Het |
Selplg |
A |
G |
5: 113,957,124 (GRCm39) |
V394A |
probably benign |
Het |
Senp7 |
T |
G |
16: 55,986,246 (GRCm39) |
F559V |
probably damaging |
Het |
Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
Smim3 |
A |
T |
18: 60,608,556 (GRCm39) |
V32D |
probably damaging |
Het |
Spsb3 |
A |
G |
17: 25,109,270 (GRCm39) |
D47G |
probably damaging |
Het |
St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
Stk11 |
T |
C |
10: 79,962,211 (GRCm39) |
|
probably benign |
Het |
Susd1 |
A |
T |
4: 59,329,491 (GRCm39) |
L646Q |
possibly damaging |
Het |
Tmprss11a |
A |
G |
5: 86,576,437 (GRCm39) |
V138A |
probably benign |
Het |
Ttn |
C |
A |
2: 76,728,969 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,580,814 (GRCm39) |
K15033E |
probably damaging |
Het |
Tyrp1 |
G |
T |
4: 80,755,749 (GRCm39) |
D173Y |
probably damaging |
Het |
Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
Vamp4 |
A |
T |
1: 162,405,457 (GRCm39) |
D28V |
possibly damaging |
Het |
Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
probably damaging |
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 |
|
R4515:Vmn2r78
|
UTSW |
7 |
86,603,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R4544:Vmn2r78
|
UTSW |
7 |
86,570,399 (GRCm39) |
missense |
probably benign |
|
R4546:Vmn2r78
|
UTSW |
7 |
86,603,811 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTGTGTCAACATATGAATGGGTC -3'
(R):5'- TCAGAAACTCAGACTGTGGTAAG -3'
Sequencing Primer
(F):5'- CCAATAACCCCATGATTGGTGTG -3'
(R):5'- CAGACTGTGGTAAGATTGTATTTCAG -3'
|
Posted On |
2015-07-21 |