Incidental Mutation 'IGL02131:Or10a49'
| ID |
281193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10a49
|
| Ensembl Gene |
ENSMUSG00000066240 |
| Gene Name |
olfactory receptor family 10 subfamily A member 49 |
| Synonyms |
MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL02131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
108467415-108468359 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 108467415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 315
(*315W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084753]
[ENSMUST00000216500]
|
| AlphaFold |
Q7TRU4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084753
AA Change: *315W
|
| SMART Domains |
Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: *315W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.4e-60 |
PFAM |
|
Pfam:7tm_1
|
41 |
299 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207346
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216500
AA Change: *315W
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
| Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
| Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
| Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
| Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
| Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
| Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
| Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
| Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
| Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
Het |
|
| Other mutations in Or10a49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Or10a49
|
APN |
7 |
108,467,482 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01866:Or10a49
|
APN |
7 |
108,468,006 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02456:Or10a49
|
APN |
7 |
108,468,257 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02604:Or10a49
|
APN |
7 |
108,467,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Or10a49
|
APN |
7 |
108,468,062 (GRCm39) |
nonsense |
probably null |
|
|
R0084:Or10a49
|
UTSW |
7 |
108,468,007 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0504:Or10a49
|
UTSW |
7 |
108,468,057 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0748:Or10a49
|
UTSW |
7 |
108,468,357 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1428:Or10a49
|
UTSW |
7 |
108,468,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1907:Or10a49
|
UTSW |
7 |
108,467,705 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2292:Or10a49
|
UTSW |
7 |
108,468,223 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3874:Or10a49
|
UTSW |
7 |
108,468,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4091:Or10a49
|
UTSW |
7 |
108,467,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Or10a49
|
UTSW |
7 |
108,467,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Or10a49
|
UTSW |
7 |
108,467,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5440:Or10a49
|
UTSW |
7 |
108,467,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Or10a49
|
UTSW |
7 |
108,467,895 (GRCm39) |
missense |
probably benign |
|
|
R6723:Or10a49
|
UTSW |
7 |
108,467,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Or10a49
|
UTSW |
7 |
108,467,780 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6892:Or10a49
|
UTSW |
7 |
108,467,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Or10a49
|
UTSW |
7 |
108,467,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8160:Or10a49
|
UTSW |
7 |
108,467,995 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8213:Or10a49
|
UTSW |
7 |
108,467,726 (GRCm39) |
missense |
probably benign |
|
|
R8330:Or10a49
|
UTSW |
7 |
108,468,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Or10a49
|
UTSW |
7 |
108,467,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Or10a49
|
UTSW |
7 |
108,467,840 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9585:Or10a49
|
UTSW |
7 |
108,467,552 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9664:Or10a49
|
UTSW |
7 |
108,467,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Or10a49
|
UTSW |
7 |
108,467,698 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1186:Or10a49
|
UTSW |
7 |
108,468,143 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2015-04-16 |
Incidental Mutation