Incidental Mutation 'IGL02610:Or51h1'
| ID |
300439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51h1
|
| Ensembl Gene |
ENSMUSG00000073970 |
| Gene Name |
olfactory receptor family 51 subfamily H member 1 |
| Synonyms |
MOR10-1, GA_x6K02T2PBJ9-5375442-5376389, Olfr555 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102308030-102308977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102308774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 249
(V249M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098220]
|
| AlphaFold |
E9Q547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098220
AA Change: V249M
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095823
Gene: ENSMUSG00000073970
AA Change: V249M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
311 |
2.5e-126 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
308 |
1.7e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
1.2e-19 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
Het |
|
| Other mutations in Or51h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00937:Or51h1
|
APN |
7 |
102,308,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01150:Or51h1
|
APN |
7 |
102,308,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02679:Or51h1
|
APN |
7 |
102,308,384 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0332:Or51h1
|
UTSW |
7 |
102,308,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1493:Or51h1
|
UTSW |
7 |
102,308,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1631:Or51h1
|
UTSW |
7 |
102,308,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Or51h1
|
UTSW |
7 |
102,308,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3026:Or51h1
|
UTSW |
7 |
102,308,336 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3103:Or51h1
|
UTSW |
7 |
102,308,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4592:Or51h1
|
UTSW |
7 |
102,308,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4782:Or51h1
|
UTSW |
7 |
102,308,041 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6282:Or51h1
|
UTSW |
7 |
102,308,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7571:Or51h1
|
UTSW |
7 |
102,308,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8001:Or51h1
|
UTSW |
7 |
102,308,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8440:Or51h1
|
UTSW |
7 |
102,308,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9087:Or51h1
|
UTSW |
7 |
102,308,964 (GRCm39) |
missense |
probably benign |
|
|
R9182:Or51h1
|
UTSW |
7 |
102,308,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9336:Or51h1
|
UTSW |
7 |
102,308,199 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9710:Or51h1
|
UTSW |
7 |
102,308,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation