Incidental Mutation 'IGL01723:Vmn2r44'
ID |
105159 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r44
|
Ensembl Gene |
ENSMUSG00000094098 |
Gene Name |
vomeronasal 2, receptor 44 |
Synonyms |
EG434113 |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL01723
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
8370459-8386237 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8380915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 326
(H326L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166499]
|
AlphaFold |
L7N2E1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166499
AA Change: H326L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132467 Gene: ENSMUSG00000094098 AA Change: H326L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
469 |
2.5e-34 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
3.8e-20 |
PFAM |
Pfam:7tm_3
|
598 |
833 |
5.7e-55 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,353,327 (GRCm39) |
A705V |
probably benign |
Het |
Abcc10 |
A |
T |
17: 46,624,671 (GRCm39) |
C728S |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
C030048H21Rik |
A |
G |
2: 26,144,780 (GRCm39) |
S1316P |
possibly damaging |
Het |
Cd86 |
A |
G |
16: 36,427,486 (GRCm39) |
L281S |
probably benign |
Het |
Cdon |
C |
T |
9: 35,414,634 (GRCm39) |
P1170S |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,280,254 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,504,091 (GRCm39) |
Q198L |
possibly damaging |
Het |
Cyp2j12 |
A |
G |
4: 95,990,363 (GRCm39) |
V401A |
possibly damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,272,442 (GRCm39) |
I257N |
probably damaging |
Het |
Ddhd2 |
A |
T |
8: 26,225,038 (GRCm39) |
L593* |
probably null |
Het |
Dnah8 |
T |
C |
17: 30,927,445 (GRCm39) |
L1367S |
probably damaging |
Het |
Dsg4 |
G |
A |
18: 20,599,567 (GRCm39) |
V728M |
probably damaging |
Het |
Dsp |
G |
A |
13: 38,363,060 (GRCm39) |
V447M |
probably damaging |
Het |
Epx |
C |
T |
11: 87,760,228 (GRCm39) |
R462H |
probably damaging |
Het |
Fgf18 |
T |
C |
11: 33,084,332 (GRCm39) |
T41A |
probably damaging |
Het |
Fh1 |
G |
T |
1: 175,429,108 (GRCm39) |
A469D |
probably damaging |
Het |
Hcn1 |
A |
C |
13: 118,112,591 (GRCm39) |
S852R |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
Krt78 |
C |
T |
15: 101,860,233 (GRCm39) |
G228S |
possibly damaging |
Het |
Lrrn4 |
T |
C |
2: 132,711,981 (GRCm39) |
E614G |
possibly damaging |
Het |
Mettl9 |
T |
C |
7: 120,651,492 (GRCm39) |
I180T |
possibly damaging |
Het |
Mgat2 |
A |
G |
12: 69,232,415 (GRCm39) |
T330A |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,872,534 (GRCm39) |
M938V |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,260,045 (GRCm39) |
|
probably benign |
Het |
Nipbl |
G |
A |
15: 8,364,555 (GRCm39) |
T1283I |
possibly damaging |
Het |
Nxpe4 |
A |
G |
9: 48,309,898 (GRCm39) |
D387G |
probably benign |
Het |
Or1e23 |
T |
A |
11: 73,407,452 (GRCm39) |
D191V |
probably damaging |
Het |
Or5aq1 |
A |
G |
2: 86,965,822 (GRCm39) |
V281A |
probably benign |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,254,333 (GRCm39) |
R832H |
possibly damaging |
Het |
Ptprd |
A |
C |
4: 76,161,910 (GRCm39) |
S108R |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,480,456 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
C |
T |
11: 53,879,671 (GRCm39) |
V463M |
probably benign |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,899,715 (GRCm39) |
M188K |
possibly damaging |
Het |
|
Other mutations in Vmn2r44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01650:Vmn2r44
|
APN |
7 |
8,383,103 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01767:Vmn2r44
|
APN |
7 |
8,383,237 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02161:Vmn2r44
|
APN |
7 |
8,380,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02299:Vmn2r44
|
APN |
7 |
8,380,815 (GRCm39) |
missense |
probably benign |
|
IGL02418:Vmn2r44
|
APN |
7 |
8,380,864 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02829:Vmn2r44
|
APN |
7 |
8,380,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02851:Vmn2r44
|
APN |
7 |
8,386,050 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03080:Vmn2r44
|
APN |
7 |
8,386,244 (GRCm39) |
utr 5 prime |
probably benign |
|
R1471:Vmn2r44
|
UTSW |
7 |
8,380,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R1789:Vmn2r44
|
UTSW |
7 |
8,383,122 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1932:Vmn2r44
|
UTSW |
7 |
8,370,981 (GRCm39) |
missense |
probably benign |
0.04 |
R2354:Vmn2r44
|
UTSW |
7 |
8,373,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R4009:Vmn2r44
|
UTSW |
7 |
8,380,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4130:Vmn2r44
|
UTSW |
7 |
8,370,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Vmn2r44
|
UTSW |
7 |
8,370,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R4854:Vmn2r44
|
UTSW |
7 |
8,383,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4887:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
R4888:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
R5484:Vmn2r44
|
UTSW |
7 |
8,383,123 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6110:Vmn2r44
|
UTSW |
7 |
8,381,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R6357:Vmn2r44
|
UTSW |
7 |
8,373,657 (GRCm39) |
missense |
probably benign |
0.01 |
R6526:Vmn2r44
|
UTSW |
7 |
8,381,098 (GRCm39) |
missense |
probably benign |
0.01 |
R7083:Vmn2r44
|
UTSW |
7 |
8,381,369 (GRCm39) |
missense |
probably benign |
0.44 |
R7087:Vmn2r44
|
UTSW |
7 |
8,381,366 (GRCm39) |
missense |
probably benign |
0.02 |
R7115:Vmn2r44
|
UTSW |
7 |
8,370,527 (GRCm39) |
nonsense |
probably null |
|
R7125:Vmn2r44
|
UTSW |
7 |
8,370,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Vmn2r44
|
UTSW |
7 |
8,380,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R7359:Vmn2r44
|
UTSW |
7 |
8,370,538 (GRCm39) |
missense |
probably benign |
0.30 |
R7494:Vmn2r44
|
UTSW |
7 |
8,386,122 (GRCm39) |
nonsense |
probably null |
|
R7766:Vmn2r44
|
UTSW |
7 |
8,371,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R7777:Vmn2r44
|
UTSW |
7 |
8,381,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8184:Vmn2r44
|
UTSW |
7 |
8,371,227 (GRCm39) |
nonsense |
probably null |
|
R8674:Vmn2r44
|
UTSW |
7 |
8,380,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R8752:Vmn2r44
|
UTSW |
7 |
8,370,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Vmn2r44
|
UTSW |
7 |
8,381,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R8915:Vmn2r44
|
UTSW |
7 |
8,370,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Vmn2r44
|
UTSW |
7 |
8,381,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Vmn2r44
|
UTSW |
7 |
8,371,091 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Vmn2r44
|
UTSW |
7 |
8,370,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-01-21 |