Incidental Mutation 'R7728:Vmn2r109'
ID |
595660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r109
|
Ensembl Gene |
ENSMUSG00000090572 |
Gene Name |
vomeronasal 2, receptor 109 |
Synonyms |
EG627814 |
MMRRC Submission |
045784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R7728 (G1)
|
Quality Score |
210.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20760779-20785018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20773117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 501
(Q501H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167093]
|
AlphaFold |
K7N747 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167093
AA Change: Q501H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132641 Gene: ENSMUSG00000090572 AA Change: Q501H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
83 |
467 |
1.4e-35 |
PFAM |
Pfam:NCD3G
|
510 |
563 |
3.1e-21 |
PFAM |
Pfam:7tm_3
|
596 |
831 |
7.4e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,163,822 (GRCm39) |
P851S |
probably damaging |
Het |
2210408I21Rik |
T |
A |
13: 77,464,596 (GRCm39) |
L931Q |
possibly damaging |
Het |
Abcg3 |
T |
G |
5: 105,083,944 (GRCm39) |
I609L |
probably benign |
Het |
Acly |
A |
T |
11: 100,407,623 (GRCm39) |
F242L |
probably damaging |
Het |
Acly |
C |
T |
11: 100,410,513 (GRCm39) |
G155D |
probably benign |
Het |
Acsl5 |
T |
A |
19: 55,276,285 (GRCm39) |
L370* |
probably null |
Het |
Arhgef17 |
G |
A |
7: 100,579,275 (GRCm39) |
P558S |
probably benign |
Het |
Bhlha9 |
T |
A |
11: 76,563,915 (GRCm39) |
S181T |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,929,100 (GRCm39) |
T2331A |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccdc7b |
A |
T |
8: 129,799,171 (GRCm39) |
R83W |
unknown |
Het |
Churc1 |
T |
A |
12: 76,820,052 (GRCm39) |
N20K |
probably benign |
Het |
Clec9a |
T |
C |
6: 129,392,198 (GRCm39) |
S63P |
possibly damaging |
Het |
Cndp2 |
T |
A |
18: 84,690,202 (GRCm39) |
M247L |
probably benign |
Het |
Cpvl |
C |
T |
6: 53,902,275 (GRCm39) |
S329N |
probably benign |
Het |
Cracd |
T |
C |
5: 77,005,316 (GRCm39) |
V559A |
unknown |
Het |
Csmd1 |
A |
T |
8: 16,281,285 (GRCm39) |
W747R |
probably damaging |
Het |
Dhx40 |
A |
T |
11: 86,662,759 (GRCm39) |
D644E |
probably damaging |
Het |
Disp2 |
A |
T |
2: 118,621,961 (GRCm39) |
N898Y |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,538,051 (GRCm39) |
H666Y |
probably damaging |
Het |
Dnajc2 |
C |
T |
5: 21,975,538 (GRCm39) |
D222N |
possibly damaging |
Het |
Epha5 |
A |
T |
5: 84,215,267 (GRCm39) |
M826K |
possibly damaging |
Het |
Fam13a |
T |
C |
6: 58,931,284 (GRCm39) |
D432G |
possibly damaging |
Het |
Fkbp6 |
A |
G |
5: 135,368,398 (GRCm39) |
L276P |
probably damaging |
Het |
Gars1 |
G |
T |
6: 55,027,371 (GRCm39) |
W155L |
probably damaging |
Het |
Gm12258 |
C |
A |
11: 58,750,518 (GRCm39) |
H564Q |
unknown |
Het |
Gm3127 |
A |
G |
14: 15,425,832 (GRCm39) |
D79G |
possibly damaging |
Het |
H2-Q10 |
T |
A |
17: 35,781,735 (GRCm39) |
I119N |
probably damaging |
Het |
Harbi1 |
A |
G |
2: 91,542,626 (GRCm39) |
D29G |
possibly damaging |
Het |
Hp1bp3 |
T |
A |
4: 137,953,307 (GRCm39) |
M155K |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,317,088 (GRCm39) |
M781R |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,190,907 (GRCm39) |
K101E |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,360,478 (GRCm39) |
I299T |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,930,811 (GRCm39) |
|
probably null |
Het |
Krt81 |
A |
G |
15: 101,358,087 (GRCm39) |
Y389H |
probably damaging |
Het |
Lrrc36 |
A |
T |
8: 106,176,130 (GRCm39) |
E168V |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,912,463 (GRCm39) |
V1699A |
probably benign |
Het |
Mdh1b |
T |
A |
1: 63,754,429 (GRCm39) |
S380C |
probably benign |
Het |
Mlkl |
A |
G |
8: 112,060,251 (GRCm39) |
L45P |
probably damaging |
Het |
Mmp13 |
T |
A |
9: 7,274,004 (GRCm39) |
D159E |
probably benign |
Het |
Nanp |
A |
G |
2: 150,872,835 (GRCm39) |
V31A |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,283,983 (GRCm39) |
S846P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,073,311 (GRCm39) |
R5982C |
probably damaging |
Het |
Nebl |
G |
T |
2: 17,375,325 (GRCm39) |
F93L |
|
Het |
Or11h6 |
G |
A |
14: 50,879,849 (GRCm39) |
G31E |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,556,530 (GRCm39) |
N620I |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,260 (GRCm39) |
Y417C |
probably damaging |
Het |
Pwp2 |
T |
C |
10: 78,014,395 (GRCm39) |
T402A |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,324,423 (GRCm39) |
|
probably null |
Het |
Rexo4 |
G |
A |
2: 26,854,242 (GRCm39) |
A30V |
probably benign |
Het |
Rrs1 |
T |
A |
1: 9,616,623 (GRCm39) |
M292K |
possibly damaging |
Het |
Shroom3 |
C |
A |
5: 92,831,566 (GRCm39) |
P14Q |
possibly damaging |
Het |
Slc16a10 |
T |
A |
10: 39,916,754 (GRCm39) |
I383F |
probably damaging |
Het |
Slco1a8 |
C |
A |
6: 141,933,436 (GRCm39) |
E470* |
probably null |
Het |
Slk |
C |
A |
19: 47,609,255 (GRCm39) |
P736Q |
probably damaging |
Het |
St6galnac2 |
T |
A |
11: 116,570,811 (GRCm39) |
H259L |
probably benign |
Het |
Stambpl1 |
T |
G |
19: 34,213,721 (GRCm39) |
S317A |
possibly damaging |
Het |
Syvn1 |
A |
G |
19: 6,101,235 (GRCm39) |
T429A |
unknown |
Het |
Tbc1d9 |
A |
T |
8: 83,985,979 (GRCm39) |
E828V |
probably damaging |
Het |
Tmtc2 |
A |
C |
10: 105,107,358 (GRCm39) |
|
probably null |
Het |
Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
Trp53bp1 |
A |
C |
2: 121,038,380 (GRCm39) |
L1436R |
probably damaging |
Het |
Ttll5 |
C |
T |
12: 86,003,406 (GRCm39) |
R1095W |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,634,203 (GRCm39) |
F831S |
probably damaging |
Het |
Zcchc17 |
A |
G |
4: 130,230,812 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
A |
G |
8: 109,678,201 (GRCm39) |
M3084V |
probably benign |
Het |
Zfp81 |
T |
C |
17: 33,555,791 (GRCm39) |
N12S |
possibly damaging |
Het |
|
Other mutations in Vmn2r109 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01313:Vmn2r109
|
APN |
17 |
20,770,419 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01383:Vmn2r109
|
APN |
17 |
20,761,383 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01469:Vmn2r109
|
APN |
17 |
20,761,671 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01762:Vmn2r109
|
APN |
17 |
20,774,654 (GRCm39) |
missense |
probably benign |
|
IGL01864:Vmn2r109
|
APN |
17 |
20,761,396 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02028:Vmn2r109
|
APN |
17 |
20,761,342 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02074:Vmn2r109
|
APN |
17 |
20,774,603 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02162:Vmn2r109
|
APN |
17 |
20,774,422 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02474:Vmn2r109
|
APN |
17 |
20,761,150 (GRCm39) |
missense |
probably benign |
|
IGL02490:Vmn2r109
|
APN |
17 |
20,761,246 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02604:Vmn2r109
|
APN |
17 |
20,760,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02669:Vmn2r109
|
APN |
17 |
20,774,518 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02705:Vmn2r109
|
APN |
17 |
20,774,062 (GRCm39) |
missense |
probably benign |
|
IGL02745:Vmn2r109
|
APN |
17 |
20,761,512 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4142001:Vmn2r109
|
UTSW |
17 |
20,774,839 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0389:Vmn2r109
|
UTSW |
17 |
20,761,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R0470:Vmn2r109
|
UTSW |
17 |
20,773,148 (GRCm39) |
missense |
probably benign |
0.06 |
R0570:Vmn2r109
|
UTSW |
17 |
20,760,937 (GRCm39) |
missense |
probably damaging |
0.99 |
R0855:Vmn2r109
|
UTSW |
17 |
20,761,670 (GRCm39) |
nonsense |
probably null |
|
R0882:Vmn2r109
|
UTSW |
17 |
20,774,842 (GRCm39) |
splice site |
probably benign |
|
R1241:Vmn2r109
|
UTSW |
17 |
20,775,503 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1587:Vmn2r109
|
UTSW |
17 |
20,761,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Vmn2r109
|
UTSW |
17 |
20,774,072 (GRCm39) |
nonsense |
probably null |
|
R1957:Vmn2r109
|
UTSW |
17 |
20,784,969 (GRCm39) |
missense |
probably benign |
0.11 |
R1962:Vmn2r109
|
UTSW |
17 |
20,774,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R2020:Vmn2r109
|
UTSW |
17 |
20,761,448 (GRCm39) |
nonsense |
probably null |
|
R2073:Vmn2r109
|
UTSW |
17 |
20,784,974 (GRCm39) |
missense |
probably benign |
0.00 |
R2436:Vmn2r109
|
UTSW |
17 |
20,774,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R3123:Vmn2r109
|
UTSW |
17 |
20,761,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Vmn2r109
|
UTSW |
17 |
20,774,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R4019:Vmn2r109
|
UTSW |
17 |
20,774,074 (GRCm39) |
missense |
probably benign |
|
R4428:Vmn2r109
|
UTSW |
17 |
20,773,286 (GRCm39) |
missense |
probably benign |
|
R4584:Vmn2r109
|
UTSW |
17 |
20,774,820 (GRCm39) |
nonsense |
probably null |
|
R4652:Vmn2r109
|
UTSW |
17 |
20,761,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Vmn2r109
|
UTSW |
17 |
20,761,605 (GRCm39) |
missense |
probably damaging |
0.97 |
R4823:Vmn2r109
|
UTSW |
17 |
20,774,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Vmn2r109
|
UTSW |
17 |
20,761,494 (GRCm39) |
missense |
probably benign |
0.01 |
R4907:Vmn2r109
|
UTSW |
17 |
20,770,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Vmn2r109
|
UTSW |
17 |
20,775,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5296:Vmn2r109
|
UTSW |
17 |
20,774,603 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5600:Vmn2r109
|
UTSW |
17 |
20,761,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R5602:Vmn2r109
|
UTSW |
17 |
20,760,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5652:Vmn2r109
|
UTSW |
17 |
20,760,781 (GRCm39) |
makesense |
probably null |
|
R5702:Vmn2r109
|
UTSW |
17 |
20,774,407 (GRCm39) |
missense |
probably benign |
0.42 |
R5706:Vmn2r109
|
UTSW |
17 |
20,774,567 (GRCm39) |
missense |
probably benign |
0.16 |
R5714:Vmn2r109
|
UTSW |
17 |
20,773,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R5832:Vmn2r109
|
UTSW |
17 |
20,761,318 (GRCm39) |
missense |
probably benign |
0.10 |
R6008:Vmn2r109
|
UTSW |
17 |
20,760,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:Vmn2r109
|
UTSW |
17 |
20,761,440 (GRCm39) |
missense |
probably benign |
0.18 |
R6377:Vmn2r109
|
UTSW |
17 |
20,784,796 (GRCm39) |
critical splice donor site |
probably null |
|
R6738:Vmn2r109
|
UTSW |
17 |
20,774,785 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6857:Vmn2r109
|
UTSW |
17 |
20,760,932 (GRCm39) |
missense |
probably benign |
0.45 |
R6953:Vmn2r109
|
UTSW |
17 |
20,760,973 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7108:Vmn2r109
|
UTSW |
17 |
20,785,006 (GRCm39) |
missense |
probably benign |
0.03 |
R7229:Vmn2r109
|
UTSW |
17 |
20,761,225 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7238:Vmn2r109
|
UTSW |
17 |
20,761,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Vmn2r109
|
UTSW |
17 |
20,760,945 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7292:Vmn2r109
|
UTSW |
17 |
20,761,700 (GRCm39) |
missense |
probably benign |
0.05 |
R7354:Vmn2r109
|
UTSW |
17 |
20,761,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7357:Vmn2r109
|
UTSW |
17 |
20,761,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7522:Vmn2r109
|
UTSW |
17 |
20,774,665 (GRCm39) |
missense |
probably benign |
0.11 |
R7596:Vmn2r109
|
UTSW |
17 |
20,760,942 (GRCm39) |
missense |
probably damaging |
0.98 |
R7859:Vmn2r109
|
UTSW |
17 |
20,761,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Vmn2r109
|
UTSW |
17 |
20,760,782 (GRCm39) |
missense |
probably benign |
0.08 |
R8113:Vmn2r109
|
UTSW |
17 |
20,774,729 (GRCm39) |
missense |
probably benign |
0.01 |
R8153:Vmn2r109
|
UTSW |
17 |
20,784,969 (GRCm39) |
missense |
probably benign |
0.11 |
R8977:Vmn2r109
|
UTSW |
17 |
20,774,531 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9687:Vmn2r109
|
UTSW |
17 |
20,775,332 (GRCm39) |
missense |
|
|
Z1176:Vmn2r109
|
UTSW |
17 |
20,773,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTACTGCAAGCCTTATTTCACAC -3'
(R):5'- TTCCTGAAGGACATTGATGAGAGAAAC -3'
Sequencing Primer
(F):5'- CTTCCTCTAATCTGAATGAAGGAAC -3'
(R):5'- ACAATATGAATTCAGGTGGGAGAC -3'
|
Posted On |
2019-11-12 |