Incidental Mutation 'IGL02537:Vmn2r78'
ID |
297533 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r78
|
Ensembl Gene |
ENSMUSG00000091962 |
Gene Name |
vomeronasal 2, receptor 78 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL02537
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
86564557-86604385 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86603496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 558
(Y558F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170835]
|
AlphaFold |
K7N6U5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170835
AA Change: Y558F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126698 Gene: ENSMUSG00000091962 AA Change: Y558F
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Alx3 |
T |
A |
3: 107,512,175 (GRCm39) |
M271K |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,749,565 (GRCm39) |
E488G |
probably damaging |
Het |
Arsk |
T |
A |
13: 76,223,025 (GRCm39) |
R191* |
probably null |
Het |
B230217C12Rik |
T |
C |
11: 97,733,011 (GRCm39) |
S111P |
possibly damaging |
Het |
Bckdhb |
A |
G |
9: 83,871,194 (GRCm39) |
I158V |
probably benign |
Het |
Bub1 |
G |
A |
2: 127,643,267 (GRCm39) |
Q1026* |
probably null |
Het |
C8a |
A |
G |
4: 104,703,148 (GRCm39) |
M303T |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,274,596 (GRCm39) |
T905A |
probably benign |
Het |
Ciao3 |
C |
T |
17: 25,997,916 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,208,310 (GRCm39) |
K132* |
probably null |
Het |
Depdc5 |
T |
A |
5: 33,125,131 (GRCm39) |
L531Q |
probably damaging |
Het |
Dzip1 |
G |
A |
14: 119,146,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,020,686 (GRCm39) |
L1054I |
probably benign |
Het |
Gm4353 |
A |
T |
7: 115,682,987 (GRCm39) |
I198N |
probably damaging |
Het |
Il1a |
T |
A |
2: 129,150,996 (GRCm39) |
E9V |
probably damaging |
Het |
Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,490,326 (GRCm39) |
V276A |
probably benign |
Het |
Or2aj5 |
A |
T |
16: 19,424,549 (GRCm39) |
Y290N |
probably damaging |
Het |
Or4a74 |
A |
C |
2: 89,439,739 (GRCm39) |
S236A |
possibly damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,020 (GRCm39) |
D52V |
possibly damaging |
Het |
Palld |
T |
C |
8: 62,137,968 (GRCm39) |
S596G |
probably benign |
Het |
Pdc |
A |
T |
1: 150,208,760 (GRCm39) |
D81V |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,595,209 (GRCm39) |
K361R |
possibly damaging |
Het |
Plekhm1 |
T |
A |
11: 103,288,018 (GRCm39) |
D43V |
probably damaging |
Het |
Prpf31 |
G |
T |
7: 3,641,750 (GRCm39) |
G356C |
probably damaging |
Het |
Rbpj |
T |
A |
5: 53,799,485 (GRCm39) |
I100K |
probably damaging |
Het |
Rufy3 |
A |
G |
5: 88,788,521 (GRCm39) |
|
probably benign |
Het |
Slc40a1 |
C |
T |
1: 45,950,553 (GRCm39) |
V300I |
probably benign |
Het |
Slc6a12 |
A |
T |
6: 121,337,473 (GRCm39) |
I386F |
probably benign |
Het |
Strip1 |
C |
T |
3: 107,524,210 (GRCm39) |
R569H |
possibly damaging |
Het |
Tep1 |
A |
T |
14: 51,073,570 (GRCm39) |
D1996E |
probably damaging |
Het |
Tmem68 |
A |
G |
4: 3,569,649 (GRCm39) |
S14P |
possibly damaging |
Het |
Trav12-1 |
C |
A |
14: 53,775,980 (GRCm39) |
C44* |
probably null |
Het |
Uba1 |
G |
A |
X: 20,544,902 (GRCm39) |
R693H |
possibly damaging |
Het |
Ugt2b38 |
T |
C |
5: 87,569,590 (GRCm39) |
T246A |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,249,564 (GRCm39) |
Y1427C |
probably damaging |
Het |
Wdr54 |
A |
G |
6: 83,130,372 (GRCm39) |
W221R |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,831,290 (GRCm39) |
T773A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,874 (GRCm39) |
S1268T |
probably benign |
Het |
Znfx1 |
T |
C |
2: 166,898,087 (GRCm39) |
D279G |
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |