Incidental Mutation 'R5101:Vmn2r78'
ID |
392356 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
042852-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5101 (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 86571563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 458
(Y458H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: Y458H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: Y458H
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,423,406 (GRCm39) |
T10A |
possibly damaging |
Het |
Adgrg3 |
T |
C |
8: 95,763,563 (GRCm39) |
F288S |
probably benign |
Het |
Ago2 |
A |
G |
15: 72,991,339 (GRCm39) |
V533A |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,051,748 (GRCm39) |
V1505G |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,934 (GRCm39) |
I3439T |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,773,314 (GRCm39) |
Y204* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,265,549 (GRCm39) |
E1461G |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,268,024 (GRCm39) |
A353V |
possibly damaging |
Het |
Clec4d |
A |
G |
6: 123,244,071 (GRCm39) |
Y60C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,228,111 (GRCm39) |
T2326S |
possibly damaging |
Het |
Cnot1 |
G |
A |
8: 96,486,815 (GRCm39) |
L631F |
possibly damaging |
Het |
Cntnap5a |
C |
T |
1: 116,370,026 (GRCm39) |
T881I |
probably benign |
Het |
Col6a1 |
T |
A |
10: 76,545,740 (GRCm39) |
T911S |
unknown |
Het |
Ctsw |
A |
G |
19: 5,515,703 (GRCm39) |
V287A |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,017,622 (GRCm39) |
E2G |
unknown |
Het |
Cytip |
A |
T |
2: 58,037,911 (GRCm39) |
I151N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,909,577 (GRCm39) |
T4399A |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,846,980 (GRCm39) |
I883N |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,395,608 (GRCm39) |
*530W |
probably null |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gp1ba |
G |
A |
11: 70,532,225 (GRCm39) |
V664M |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,913 (GRCm39) |
I481N |
probably damaging |
Het |
Gvin-ps5 |
T |
C |
7: 105,929,096 (GRCm39) |
|
noncoding transcript |
Het |
Ildr2 |
A |
G |
1: 166,135,331 (GRCm39) |
D342G |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,391 (GRCm39) |
I327T |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,348 (GRCm39) |
C988* |
probably null |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Mast4 |
T |
C |
13: 102,872,864 (GRCm39) |
D2168G |
probably benign |
Het |
Myo6 |
G |
T |
9: 80,177,321 (GRCm39) |
E606* |
probably null |
Het |
Nek7 |
A |
G |
1: 138,443,431 (GRCm39) |
V174A |
probably benign |
Het |
Nid1 |
T |
A |
13: 13,658,339 (GRCm39) |
C695S |
probably damaging |
Het |
Nme8 |
A |
G |
13: 19,875,017 (GRCm39) |
|
probably null |
Het |
Nr2c2 |
T |
C |
6: 92,131,497 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2ag18 |
A |
T |
7: 106,405,420 (GRCm39) |
I83K |
possibly damaging |
Het |
Or4x11 |
A |
G |
2: 89,867,391 (GRCm39) |
M43V |
probably benign |
Het |
Or51ab3 |
G |
A |
7: 103,201,150 (GRCm39) |
E53K |
probably damaging |
Het |
Or9g19 |
A |
G |
2: 85,600,268 (GRCm39) |
N41S |
probably damaging |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Psapl1 |
T |
A |
5: 36,361,494 (GRCm39) |
C29S |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,291,850 (GRCm39) |
V1632D |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,886,129 (GRCm39) |
G168D |
probably damaging |
Het |
Smad4 |
A |
G |
18: 73,808,931 (GRCm39) |
V112A |
probably benign |
Het |
Smc4 |
T |
C |
3: 68,935,845 (GRCm39) |
V796A |
probably benign |
Het |
Smco4 |
A |
G |
9: 15,455,968 (GRCm39) |
E18G |
unknown |
Het |
Spata31e2 |
T |
C |
1: 26,722,417 (GRCm39) |
E921G |
possibly damaging |
Het |
Sugp2 |
A |
G |
8: 70,713,139 (GRCm39) |
E1035G |
probably damaging |
Het |
Syde2 |
T |
C |
3: 145,721,393 (GRCm39) |
S820P |
probably damaging |
Het |
Syn2 |
T |
C |
6: 115,240,860 (GRCm39) |
L410P |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,844,811 (GRCm39) |
N466S |
probably damaging |
Het |
Uba1y |
T |
G |
Y: 821,447 (GRCm39) |
|
probably null |
Het |
Unc79 |
T |
C |
12: 103,078,769 (GRCm39) |
S1645P |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,576,217 (GRCm39) |
S363C |
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 |
|
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 |
|
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 |
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'- GGATAATGGATATGAGTGGCATTCC -3'
(R):5'- ACCGAACGATCTCCCTTTAC -3'
Sequencing Primer
(F):5'- GTGGCATTCCAATCTTTATGATTTC -3'
(R):5'- TCATGAAACATGAGTGAGTGAATG -3'
|
Posted On |
2016-06-15 |