Incidental Mutation 'IGL01023:Or5as1'
ID |
53467 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or5as1
|
Ensembl Gene |
ENSMUSG00000075158 |
Gene Name |
olfactory receptor family 5 subfamily AS member 1 |
Synonyms |
Olfr1111, MOR181-2, GA_x6K02T2Q125-48635468-48634530 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.283)
|
Stock # |
IGL01023
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
86980064-86981003 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86980169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 279
(T279S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099860]
[ENSMUST00000214492]
[ENSMUST00000216378]
|
AlphaFold |
Q7TR55 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099860
AA Change: T279S
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097446 Gene: ENSMUSG00000075158 AA Change: T279S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
2.2e-54 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
7e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214492
AA Change: T279S
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216378
AA Change: T279S
PolyPhen 2
Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc1 |
A |
G |
2: 128,471,649 (GRCm39) |
L1472P |
probably damaging |
Het |
Col18a1 |
C |
T |
10: 76,906,809 (GRCm39) |
V1151M |
probably damaging |
Het |
Crmp1 |
A |
T |
5: 37,433,657 (GRCm39) |
D286V |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,395,548 (GRCm39) |
I162F |
probably damaging |
Het |
Fam24b |
A |
T |
7: 130,927,903 (GRCm39) |
C95* |
probably null |
Het |
Fsd1 |
A |
G |
17: 56,295,245 (GRCm39) |
Y78C |
probably damaging |
Het |
Galc |
C |
T |
12: 98,197,681 (GRCm39) |
V343I |
probably benign |
Het |
Glis2 |
C |
T |
16: 4,429,514 (GRCm39) |
R214C |
probably damaging |
Het |
Gm14406 |
A |
T |
2: 177,261,032 (GRCm39) |
C416S |
probably damaging |
Het |
Gnat3 |
T |
C |
5: 18,208,826 (GRCm39) |
S177P |
probably damaging |
Het |
Higd1a |
C |
T |
9: 121,678,749 (GRCm39) |
G80D |
possibly damaging |
Het |
Hp1bp3 |
T |
C |
4: 137,967,940 (GRCm39) |
V421A |
possibly damaging |
Het |
Ipo11 |
A |
T |
13: 107,033,767 (GRCm39) |
F238L |
probably benign |
Het |
Med26 |
A |
T |
8: 73,249,718 (GRCm39) |
F460L |
possibly damaging |
Het |
Osbp2 |
T |
C |
11: 3,813,387 (GRCm39) |
I161V |
probably benign |
Het |
Prr5 |
T |
C |
15: 84,583,856 (GRCm39) |
V152A |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,218,844 (GRCm39) |
I1115K |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,810,690 (GRCm39) |
I708M |
probably benign |
Het |
Robo3 |
T |
C |
9: 37,340,847 (GRCm39) |
T120A |
probably damaging |
Het |
Setd2 |
C |
A |
9: 110,376,581 (GRCm39) |
S132* |
probably null |
Het |
Slc9a1 |
A |
G |
4: 133,149,454 (GRCm39) |
E760G |
probably benign |
Het |
Slco1a7 |
A |
G |
6: 141,700,155 (GRCm39) |
S126P |
probably benign |
Het |
Stx16 |
A |
T |
2: 173,934,202 (GRCm39) |
H135L |
probably damaging |
Het |
Tas2r131 |
A |
T |
6: 132,934,764 (GRCm39) |
L15Q |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,668,366 (GRCm39) |
W963R |
probably damaging |
Het |
Tmcc1 |
A |
G |
6: 116,019,988 (GRCm39) |
L128P |
probably damaging |
Het |
Tmem269 |
C |
A |
4: 119,066,511 (GRCm39) |
M182I |
probably benign |
Het |
Tnfaip8l2 |
A |
G |
3: 95,047,726 (GRCm39) |
S46P |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,032,179 (GRCm39) |
|
probably benign |
Het |
Unc13a |
C |
T |
8: 72,114,469 (GRCm39) |
E184K |
probably benign |
Het |
Wfs1 |
A |
T |
5: 37,125,261 (GRCm39) |
C467* |
probably null |
Het |
Zfp78 |
G |
A |
7: 6,378,587 (GRCm39) |
G77D |
possibly damaging |
Het |
|
Other mutations in Or5as1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02217:Or5as1
|
APN |
2 |
86,980,231 (GRCm39) |
missense |
probably benign |
0.00 |
R0789:Or5as1
|
UTSW |
2 |
86,980,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Or5as1
|
UTSW |
2 |
86,980,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1696:Or5as1
|
UTSW |
2 |
86,980,724 (GRCm39) |
missense |
probably benign |
0.00 |
R1700:Or5as1
|
UTSW |
2 |
86,980,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R1717:Or5as1
|
UTSW |
2 |
86,980,150 (GRCm39) |
nonsense |
probably null |
|
R4965:Or5as1
|
UTSW |
2 |
86,981,003 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
R5221:Or5as1
|
UTSW |
2 |
86,980,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Or5as1
|
UTSW |
2 |
86,980,793 (GRCm39) |
missense |
probably benign |
0.01 |
R5837:Or5as1
|
UTSW |
2 |
86,980,699 (GRCm39) |
missense |
probably benign |
0.02 |
R6544:Or5as1
|
UTSW |
2 |
86,980,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Or5as1
|
UTSW |
2 |
86,980,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R8537:Or5as1
|
UTSW |
2 |
86,980,382 (GRCm39) |
missense |
probably benign |
0.02 |
R8969:Or5as1
|
UTSW |
2 |
86,980,928 (GRCm39) |
missense |
probably benign |
|
R9747:Or5as1
|
UTSW |
2 |
86,980,898 (GRCm39) |
missense |
probably benign |
0.21 |
|
Posted On |
2013-06-28 |