Incidental Mutation 'R1515:Vmn2r118'
ID |
168253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
039562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R1515 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55917643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 290
(Y290H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168440
AA Change: Y290H
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: Y290H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
142 |
470 |
4.6e-27 |
PFAM |
Pfam:NCD3G
|
513 |
566 |
2.6e-20 |
PFAM |
Pfam:7tm_3
|
599 |
834 |
5.9e-55 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
G |
7: 27,336,583 (GRCm39) |
T401A |
probably damaging |
Het |
Arhgap32 |
G |
T |
9: 32,027,498 (GRCm39) |
V23L |
probably benign |
Het |
Atmin |
T |
A |
8: 117,681,579 (GRCm39) |
C193S |
possibly damaging |
Het |
Atp13a5 |
C |
T |
16: 29,152,792 (GRCm39) |
V225I |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,008,526 (GRCm39) |
V350A |
possibly damaging |
Het |
Birc6 |
G |
T |
17: 74,835,631 (GRCm39) |
E29* |
probably null |
Het |
Bnc2 |
T |
C |
4: 84,332,563 (GRCm39) |
N104S |
probably null |
Het |
C030048H21Rik |
T |
C |
2: 26,147,515 (GRCm39) |
|
probably null |
Het |
Cd320 |
G |
T |
17: 34,066,613 (GRCm39) |
C117F |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,510,133 (GRCm39) |
S542P |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,747,048 (GRCm39) |
T1587A |
probably benign |
Het |
Defb41 |
T |
C |
1: 18,330,817 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,190,384 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,355 (GRCm39) |
N2836S |
probably benign |
Het |
Dpp8 |
G |
A |
9: 64,986,030 (GRCm39) |
S840N |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,167,758 (GRCm39) |
F111L |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,178,622 (GRCm39) |
I261F |
probably benign |
Het |
Ece1 |
T |
C |
4: 137,678,819 (GRCm39) |
V509A |
probably benign |
Het |
Ecm2 |
T |
C |
13: 49,671,808 (GRCm39) |
M103T |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,240,063 (GRCm39) |
H1064R |
probably damaging |
Het |
Engase |
T |
C |
11: 118,377,966 (GRCm39) |
V252A |
possibly damaging |
Het |
F13b |
A |
G |
1: 139,438,703 (GRCm39) |
Y369C |
probably damaging |
Het |
Flii |
T |
C |
11: 60,612,432 (GRCm39) |
|
probably null |
Het |
Fzd10 |
T |
A |
5: 128,679,623 (GRCm39) |
F448I |
probably damaging |
Het |
Gpr35 |
T |
G |
1: 92,910,770 (GRCm39) |
F161V |
probably damaging |
Het |
Gprin2 |
T |
C |
14: 33,917,230 (GRCm39) |
D180G |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,564,521 (GRCm39) |
N501S |
probably benign |
Het |
Hells |
A |
G |
19: 38,956,209 (GRCm39) |
K802E |
probably damaging |
Het |
Il1r1 |
T |
A |
1: 40,332,509 (GRCm39) |
C96* |
probably null |
Het |
Kcnk16 |
T |
A |
14: 20,315,345 (GRCm39) |
I73F |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,472,905 (GRCm39) |
S652P |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,830,763 (GRCm39) |
D1500G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,272,273 (GRCm39) |
F6468L |
probably damaging |
Het |
Mgrn1 |
T |
A |
16: 4,733,644 (GRCm39) |
F198I |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,451,232 (GRCm39) |
T323A |
probably benign |
Het |
N4bp2 |
A |
G |
5: 65,947,841 (GRCm39) |
Y157C |
probably benign |
Het |
Nfkbid |
C |
A |
7: 30,124,781 (GRCm39) |
H190Q |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,313,148 (GRCm39) |
V184A |
possibly damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,044 (GRCm39) |
S237P |
probably damaging |
Het |
Or6c75 |
T |
C |
10: 129,337,460 (GRCm39) |
S236P |
probably damaging |
Het |
Osgin2 |
C |
T |
4: 15,998,380 (GRCm39) |
G414D |
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,827 (GRCm39) |
R4097H |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,388,968 (GRCm39) |
L213Q |
probably null |
Het |
Ppfibp1 |
A |
G |
6: 146,928,930 (GRCm39) |
H850R |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,646,257 (GRCm39) |
D148G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 162,079,954 (GRCm39) |
S282T |
probably damaging |
Het |
Sgsm3 |
T |
C |
15: 80,894,457 (GRCm39) |
V536A |
probably benign |
Het |
Slc22a23 |
T |
A |
13: 34,387,947 (GRCm39) |
Q383L |
probably benign |
Het |
Snx29 |
T |
C |
16: 11,217,701 (GRCm39) |
|
probably null |
Het |
Tmem229b-ps |
T |
A |
10: 53,351,542 (GRCm39) |
|
noncoding transcript |
Het |
Tmod4 |
A |
T |
3: 95,035,990 (GRCm39) |
Y317F |
possibly damaging |
Het |
Trim13 |
T |
C |
14: 61,843,108 (GRCm39) |
M375T |
probably benign |
Het |
Txndc11 |
A |
G |
16: 10,892,926 (GRCm39) |
S935P |
probably damaging |
Het |
Umod |
T |
C |
7: 119,064,720 (GRCm39) |
N592D |
probably benign |
Het |
Vps26b |
A |
G |
9: 26,924,041 (GRCm39) |
M234T |
probably damaging |
Het |
Zbtb48 |
A |
G |
4: 152,104,658 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
A |
10: 115,252,647 (GRCm39) |
F1320Y |
probably benign |
Het |
Zfp784 |
A |
T |
7: 5,039,039 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn2r118 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Vmn2r118
|
APN |
17 |
55,899,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00976:Vmn2r118
|
APN |
17 |
55,900,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01419:Vmn2r118
|
APN |
17 |
55,900,000 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01796:Vmn2r118
|
APN |
17 |
55,915,585 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01799:Vmn2r118
|
APN |
17 |
55,899,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Vmn2r118
|
APN |
17 |
55,899,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02075:Vmn2r118
|
APN |
17 |
55,917,517 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02172:Vmn2r118
|
APN |
17 |
55,931,598 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02529:Vmn2r118
|
APN |
17 |
55,917,870 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02712:Vmn2r118
|
APN |
17 |
55,899,655 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03096:Vmn2r118
|
APN |
17 |
55,914,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R0306:Vmn2r118
|
UTSW |
17 |
55,915,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0329:Vmn2r118
|
UTSW |
17 |
55,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Vmn2r118
|
UTSW |
17 |
55,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Vmn2r118
|
UTSW |
17 |
55,915,643 (GRCm39) |
missense |
probably benign |
0.00 |
R0411:Vmn2r118
|
UTSW |
17 |
55,918,021 (GRCm39) |
splice site |
probably benign |
|
R0513:Vmn2r118
|
UTSW |
17 |
55,917,970 (GRCm39) |
nonsense |
probably null |
|
R0627:Vmn2r118
|
UTSW |
17 |
55,917,772 (GRCm39) |
missense |
probably benign |
0.01 |
R0638:Vmn2r118
|
UTSW |
17 |
55,915,466 (GRCm39) |
missense |
probably benign |
0.03 |
R1328:Vmn2r118
|
UTSW |
17 |
55,915,620 (GRCm39) |
missense |
probably benign |
0.01 |
R1366:Vmn2r118
|
UTSW |
17 |
55,900,237 (GRCm39) |
nonsense |
probably null |
|
R1465:Vmn2r118
|
UTSW |
17 |
55,917,935 (GRCm39) |
missense |
probably benign |
0.33 |
R1465:Vmn2r118
|
UTSW |
17 |
55,917,935 (GRCm39) |
missense |
probably benign |
0.33 |
R1511:Vmn2r118
|
UTSW |
17 |
55,915,496 (GRCm39) |
nonsense |
probably null |
|
R1550:Vmn2r118
|
UTSW |
17 |
55,915,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Vmn2r118
|
UTSW |
17 |
55,918,530 (GRCm39) |
missense |
probably benign |
0.03 |
R1834:Vmn2r118
|
UTSW |
17 |
55,899,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R1840:Vmn2r118
|
UTSW |
17 |
55,917,406 (GRCm39) |
nonsense |
probably null |
|
R1854:Vmn2r118
|
UTSW |
17 |
55,918,556 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1967:Vmn2r118
|
UTSW |
17 |
55,899,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R1976:Vmn2r118
|
UTSW |
17 |
55,899,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R2308:Vmn2r118
|
UTSW |
17 |
55,931,650 (GRCm39) |
missense |
probably benign |
0.33 |
R3700:Vmn2r118
|
UTSW |
17 |
55,915,421 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4334:Vmn2r118
|
UTSW |
17 |
55,917,347 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4647:Vmn2r118
|
UTSW |
17 |
55,917,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Vmn2r118
|
UTSW |
17 |
55,917,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4805:Vmn2r118
|
UTSW |
17 |
55,899,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Vmn2r118
|
UTSW |
17 |
55,899,894 (GRCm39) |
missense |
probably damaging |
0.98 |
R5384:Vmn2r118
|
UTSW |
17 |
55,918,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5385:Vmn2r118
|
UTSW |
17 |
55,918,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5664:Vmn2r118
|
UTSW |
17 |
55,899,765 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5740:Vmn2r118
|
UTSW |
17 |
55,900,103 (GRCm39) |
missense |
probably benign |
0.00 |
R5927:Vmn2r118
|
UTSW |
17 |
55,931,494 (GRCm39) |
missense |
probably benign |
0.04 |
R6143:Vmn2r118
|
UTSW |
17 |
55,899,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6513:Vmn2r118
|
UTSW |
17 |
55,915,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Vmn2r118
|
UTSW |
17 |
55,899,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R6760:Vmn2r118
|
UTSW |
17 |
55,899,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6794:Vmn2r118
|
UTSW |
17 |
55,899,348 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6929:Vmn2r118
|
UTSW |
17 |
55,917,440 (GRCm39) |
missense |
probably benign |
0.01 |
R7201:Vmn2r118
|
UTSW |
17 |
55,915,496 (GRCm39) |
nonsense |
probably null |
|
R7539:Vmn2r118
|
UTSW |
17 |
55,899,853 (GRCm39) |
missense |
probably damaging |
0.98 |
R7836:Vmn2r118
|
UTSW |
17 |
55,900,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R8179:Vmn2r118
|
UTSW |
17 |
55,915,484 (GRCm39) |
missense |
probably benign |
0.36 |
R8248:Vmn2r118
|
UTSW |
17 |
55,917,936 (GRCm39) |
missense |
probably benign |
0.18 |
R8347:Vmn2r118
|
UTSW |
17 |
55,917,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8415:Vmn2r118
|
UTSW |
17 |
55,915,057 (GRCm39) |
missense |
probably benign |
0.08 |
R8428:Vmn2r118
|
UTSW |
17 |
55,915,642 (GRCm39) |
missense |
probably benign |
0.33 |
R8917:Vmn2r118
|
UTSW |
17 |
55,917,216 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8993:Vmn2r118
|
UTSW |
17 |
55,917,835 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9038:Vmn2r118
|
UTSW |
17 |
55,918,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Vmn2r118
|
UTSW |
17 |
55,917,207 (GRCm39) |
missense |
probably null |
0.83 |
R9603:Vmn2r118
|
UTSW |
17 |
55,899,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Vmn2r118
|
UTSW |
17 |
55,918,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R9749:Vmn2r118
|
UTSW |
17 |
55,915,415 (GRCm39) |
critical splice donor site |
probably null |
|
R9792:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R9793:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R9795:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
X0022:Vmn2r118
|
UTSW |
17 |
55,900,218 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r118
|
UTSW |
17 |
55,917,655 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCACTCCTGCATTAGTTGGGTCAC -3'
(R):5'- CTGCCTGAAGCCATAGTATCCTTGC -3'
Sequencing Primer
(F):5'- ATGTCAAAACTGTGCCGTG -3'
(R):5'- CCAAGATGATGACCAAGGTATTC -3'
|
Posted On |
2014-04-13 |