Incidental Mutation 'IGL01658:Or2a14'
| ID |
103079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2a14
|
| Ensembl Gene |
ENSMUSG00000094200 |
| Gene Name |
olfactory receptor family 2 subfamily A member 14 |
| Synonyms |
Olfr237-ps1, MOR261-4, Olfr237, GA_x6K02T08UK8-1-481, GA_x6K02T2P3E9-4404793-4403861, Olfr438 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL01658
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
43130241-43131173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43130784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 182
(S182T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095953]
[ENSMUST00000215911]
[ENSMUST00000216411]
|
| AlphaFold |
K9J725 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095953
AA Change: S182T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093647
Gene: ENSMUSG00000094200
AA Change: S182T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
8e-61 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
2.6e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215911
AA Change: S182T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216411
AA Change: S182T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Blm |
A |
G |
7: 80,113,689 (GRCm39) |
S1203P |
probably damaging |
Het |
| Cdc25a |
C |
A |
9: 109,705,194 (GRCm39) |
|
probably null |
Het |
| Cstf1 |
T |
A |
2: 172,214,993 (GRCm39) |
I38N |
probably benign |
Het |
| Fam168a |
C |
A |
7: 100,462,180 (GRCm39) |
P42T |
possibly damaging |
Het |
| Fstl5 |
A |
G |
3: 76,389,562 (GRCm39) |
Q253R |
possibly damaging |
Het |
| Gpr26 |
C |
T |
7: 131,585,834 (GRCm39) |
T268I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,809,200 (GRCm39) |
Y2567N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,292,237 (GRCm39) |
T4035I |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,023,278 (GRCm39) |
R523Q |
possibly damaging |
Het |
| Mad2l1 |
T |
A |
6: 66,514,586 (GRCm39) |
V85E |
possibly damaging |
Het |
| Mical2 |
T |
C |
7: 111,914,205 (GRCm39) |
Y292H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,127,880 (GRCm39) |
S239P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,893,222 (GRCm39) |
|
probably benign |
Het |
| Nthl1 |
A |
G |
17: 24,853,819 (GRCm39) |
T155A |
probably benign |
Het |
| Plcxd2 |
T |
G |
16: 45,785,424 (GRCm39) |
E327A |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Satb1 |
C |
A |
17: 52,082,279 (GRCm39) |
M458I |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,625,290 (GRCm39) |
S146P |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,977,477 (GRCm39) |
S750P |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,762,438 (GRCm39) |
L102P |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,104,055 (GRCm39) |
F103L |
probably benign |
Het |
| Trim2 |
T |
C |
3: 84,117,592 (GRCm39) |
I8V |
probably benign |
Het |
| Usf1 |
C |
T |
1: 171,244,867 (GRCm39) |
S177L |
possibly damaging |
Het |
| Usp12 |
T |
C |
5: 146,688,739 (GRCm39) |
D205G |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,671,479 (GRCm39) |
T1661A |
probably damaging |
Het |
|
| Other mutations in Or2a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Or2a14
|
APN |
6 |
43,130,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Or2a14
|
APN |
6 |
43,130,511 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0504:Or2a14
|
UTSW |
6 |
43,130,395 (GRCm39) |
missense |
probably benign |
|
|
R0839:Or2a14
|
UTSW |
6 |
43,130,558 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1954:Or2a14
|
UTSW |
6 |
43,130,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5238:Or2a14
|
UTSW |
6 |
43,130,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Or2a14
|
UTSW |
6 |
43,130,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6213:Or2a14
|
UTSW |
6 |
43,130,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6382:Or2a14
|
UTSW |
6 |
43,130,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Or2a14
|
UTSW |
6 |
43,130,242 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8497:Or2a14
|
UTSW |
6 |
43,130,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Or2a14
|
UTSW |
6 |
43,130,830 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9691:Or2a14
|
UTSW |
6 |
43,130,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9709:Or2a14
|
UTSW |
6 |
43,130,469 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2014-01-21 |
Incidental Mutation