Incidental Mutation 'IGL01300:Or10al2'
| ID |
75219 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10al2
|
| Ensembl Gene |
ENSMUSG00000080990 |
| Gene Name |
olfactory receptor family 10 subfamily AL member 2 |
| Synonyms |
GA_x6K02T2PSCP-2131124-2132089, MOR263-13, Olfr118 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL01300
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37982916-37983888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37983778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 288
(T288K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122036]
[ENSMUST00000215811]
[ENSMUST00000216551]
|
| AlphaFold |
Q7TRJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122036
AA Change: T288K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: T288K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
32 |
173 |
2e-6 |
PFAM |
|
Pfam:7tm_4
|
37 |
314 |
2.1e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
311 |
5.8e-6 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215811
AA Change: T288K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216551
AA Change: T288K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa8 |
A |
G |
14: 33,821,700 (GRCm39) |
D300G |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,324,738 (GRCm39) |
H1161R |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,331,372 (GRCm39) |
R1471Q |
unknown |
Het |
| Gm14496 |
A |
T |
2: 181,642,753 (GRCm39) |
E808V |
probably damaging |
Het |
| Gm1968 |
T |
C |
16: 29,781,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmb |
G |
A |
14: 56,497,653 (GRCm39) |
R196C |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,231,040 (GRCm39) |
|
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,290 (GRCm39) |
V629E |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,083 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Lrrc69 |
C |
T |
4: 14,773,663 (GRCm39) |
|
probably benign |
Het |
| Mmd |
T |
C |
11: 90,140,537 (GRCm39) |
M1T |
probably null |
Het |
| Myh6 |
A |
G |
14: 55,200,548 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,667,755 (GRCm39) |
N485S |
probably damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,714 (GRCm39) |
T214M |
probably damaging |
Het |
| Ncoa3 |
A |
T |
2: 165,910,381 (GRCm39) |
T1265S |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,054 (GRCm39) |
S89P |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,327 (GRCm39) |
C138R |
possibly damaging |
Het |
| Prom2 |
A |
T |
2: 127,377,009 (GRCm39) |
L535H |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,734,174 (GRCm39) |
F327L |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,977,809 (GRCm39) |
M1479T |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,318,397 (GRCm39) |
Q1465* |
probably null |
Het |
| Serpinb3b |
A |
G |
1: 107,083,573 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,099,253 (GRCm39) |
Q339* |
probably null |
Het |
| Slc34a2 |
A |
C |
5: 53,225,469 (GRCm39) |
|
probably null |
Het |
| Smc3 |
T |
A |
19: 53,630,283 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
A |
G |
9: 79,682,382 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
T |
8: 47,954,903 (GRCm39) |
D878E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,741,628 (GRCm39) |
T1325M |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,359,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,337 (GRCm39) |
I20N |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,414 (GRCm39) |
Y311H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,740,263 (GRCm39) |
F189I |
possibly damaging |
Het |
|
| Other mutations in Or10al2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02456:Or10al2
|
APN |
17 |
37,983,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02750:Or10al2
|
APN |
17 |
37,983,500 (GRCm39) |
nonsense |
probably null |
|
|
IGL03083:Or10al2
|
APN |
17 |
37,983,551 (GRCm39) |
nonsense |
probably null |
|
|
IGL03339:Or10al2
|
APN |
17 |
37,983,448 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0032:Or10al2
|
UTSW |
17 |
37,983,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Or10al2
|
UTSW |
17 |
37,983,816 (GRCm39) |
nonsense |
probably null |
|
|
R1542:Or10al2
|
UTSW |
17 |
37,983,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Or10al2
|
UTSW |
17 |
37,983,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Or10al2
|
UTSW |
17 |
37,983,747 (GRCm39) |
nonsense |
probably null |
|
|
R2395:Or10al2
|
UTSW |
17 |
37,983,587 (GRCm39) |
nonsense |
probably null |
|
|
R3619:Or10al2
|
UTSW |
17 |
37,983,531 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3917:Or10al2
|
UTSW |
17 |
37,983,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Or10al2
|
UTSW |
17 |
37,983,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5600:Or10al2
|
UTSW |
17 |
37,983,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6415:Or10al2
|
UTSW |
17 |
37,983,448 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6462:Or10al2
|
UTSW |
17 |
37,983,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Or10al2
|
UTSW |
17 |
37,983,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7861:Or10al2
|
UTSW |
17 |
37,983,408 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7913:Or10al2
|
UTSW |
17 |
37,982,999 (GRCm39) |
missense |
probably benign |
|
|
R7952:Or10al2
|
UTSW |
17 |
37,983,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Or10al2
|
UTSW |
17 |
37,983,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Or10al2
|
UTSW |
17 |
37,983,302 (GRCm39) |
nonsense |
probably null |
|
|
R8923:Or10al2
|
UTSW |
17 |
37,983,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9253:Or10al2
|
UTSW |
17 |
37,983,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9778:Or10al2
|
UTSW |
17 |
37,983,145 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9789:Or10al2
|
UTSW |
17 |
37,983,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Or10al2
|
UTSW |
17 |
37,983,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation