Incidental Mutation 'R5636:Vmn2r78'
ID |
440372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
MMRRC Submission |
043287-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5636 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86603637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 605
(H605R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: H605R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: H605R
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
T |
19: 31,922,382 (GRCm39) |
Q448* |
probably null |
Het |
Abca5 |
A |
G |
11: 110,192,362 (GRCm39) |
Y717H |
probably benign |
Het |
Abcg2 |
T |
A |
6: 58,649,041 (GRCm39) |
D295E |
probably damaging |
Het |
Accsl |
C |
T |
2: 93,699,370 (GRCm39) |
E7K |
probably benign |
Het |
Acvr2b |
A |
G |
9: 119,257,375 (GRCm39) |
Y152C |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,354,120 (GRCm39) |
E1747G |
probably damaging |
Het |
Arpp19 |
C |
T |
9: 74,945,215 (GRCm39) |
|
probably benign |
Het |
Atp10d |
A |
G |
5: 72,445,562 (GRCm39) |
Y74C |
probably damaging |
Het |
Atp6v0b |
T |
C |
4: 117,743,582 (GRCm39) |
|
probably benign |
Het |
Bms1 |
C |
A |
6: 118,365,786 (GRCm39) |
M1133I |
probably benign |
Het |
Bysl |
A |
C |
17: 47,913,648 (GRCm39) |
D259E |
probably benign |
Het |
Capn1 |
A |
T |
19: 6,064,472 (GRCm39) |
V9E |
probably benign |
Het |
Cdkl2 |
T |
C |
5: 92,181,601 (GRCm39) |
I127V |
probably benign |
Het |
Cyp2c38 |
G |
A |
19: 39,426,750 (GRCm39) |
Q184* |
probably null |
Het |
Cypt12 |
C |
T |
3: 18,002,749 (GRCm39) |
R41C |
probably benign |
Het |
Dnaaf11 |
A |
T |
15: 66,372,665 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
C |
11: 55,173,307 (GRCm39) |
I2469V |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,644,089 (GRCm39) |
V923A |
possibly damaging |
Het |
Gm13889 |
A |
G |
2: 93,787,031 (GRCm39) |
C148R |
probably damaging |
Het |
Gpd1 |
A |
T |
15: 99,619,939 (GRCm39) |
T223S |
probably benign |
Het |
Hcrtr1 |
C |
A |
4: 130,024,738 (GRCm39) |
G383C |
possibly damaging |
Het |
Hivep1 |
C |
T |
13: 42,316,932 (GRCm39) |
P2047S |
possibly damaging |
Het |
Islr2 |
T |
C |
9: 58,108,584 (GRCm39) |
T35A |
probably benign |
Het |
Lgr6 |
T |
C |
1: 134,914,816 (GRCm39) |
D644G |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,695,480 (GRCm39) |
T1173I |
probably damaging |
Het |
Mon1a |
T |
C |
9: 107,778,439 (GRCm39) |
V221A |
probably damaging |
Het |
Mrgprb4 |
A |
G |
7: 47,848,218 (GRCm39) |
C237R |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,836,687 (GRCm39) |
M264T |
probably damaging |
Het |
Naxd |
A |
G |
8: 11,552,676 (GRCm39) |
N32S |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,273,926 (GRCm39) |
L1010Q |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,885,637 (GRCm39) |
K755* |
probably null |
Het |
Or2av9 |
T |
C |
11: 58,380,877 (GRCm39) |
K235E |
probably damaging |
Het |
Or9i2 |
C |
T |
19: 13,815,701 (GRCm39) |
V279M |
possibly damaging |
Het |
Pik3ca |
G |
A |
3: 32,515,709 (GRCm39) |
R794Q |
probably damaging |
Het |
Pnp2 |
A |
G |
14: 51,193,649 (GRCm39) |
|
probably null |
Het |
Ric3 |
G |
A |
7: 108,638,027 (GRCm39) |
T242I |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,327,731 (GRCm39) |
Q1906P |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,327,455 (GRCm39) |
R1814K |
probably benign |
Het |
Rufy2 |
T |
A |
10: 62,833,733 (GRCm39) |
I265N |
probably damaging |
Het |
Scap |
G |
T |
9: 110,209,662 (GRCm39) |
G744C |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,202,744 (GRCm39) |
Q88R |
possibly damaging |
Het |
Sf3b1 |
T |
C |
1: 55,036,352 (GRCm39) |
D907G |
probably damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc4a3 |
C |
T |
1: 75,530,860 (GRCm39) |
L749F |
possibly damaging |
Het |
Smtn |
T |
G |
11: 3,467,829 (GRCm39) |
|
probably null |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sptbn5 |
G |
A |
2: 119,887,885 (GRCm39) |
|
probably benign |
Het |
Stam |
G |
T |
2: 14,122,238 (GRCm39) |
M112I |
probably damaging |
Het |
Tex35 |
C |
T |
1: 156,927,794 (GRCm39) |
W125* |
probably null |
Het |
Tmem215 |
A |
G |
4: 40,474,394 (GRCm39) |
E157G |
probably damaging |
Het |
Traf6 |
G |
A |
2: 101,527,254 (GRCm39) |
V335M |
probably benign |
Het |
Ubr5 |
T |
A |
15: 37,984,240 (GRCm39) |
K2302N |
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 |
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 |
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'- CAATGTGTGAAGTGTCCAGAGG -3'
(R):5'- TAGCAGCCACCTCAGTCTTC -3'
Sequencing Primer
(F):5'- GGATGAGTATGCCAACACTGATC -3'
(R):5'- TCTTGGCTAAGACACAAGAGGC -3'
|
Posted On |
2016-11-08 |