Incidental Mutation 'IGL00954:Or10al6'
ID |
29312 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or10al6
|
Ensembl Gene |
ENSMUSG00000083947 |
Gene Name |
olfactory receptor family 10 subfamily AL member 6 |
Synonyms |
GA_x6K02T2PSCP-2230932-2231897, MOR263-10, Olfr122 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL00954
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
38079533-38083511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38083505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 329
(N329K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119082]
[ENSMUST00000172582]
[ENSMUST00000217119]
|
AlphaFold |
W4VSP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119082
AA Change: N329K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113170 Gene: ENSMUSG00000083947 AA Change: N329K
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
46 |
323 |
2.2e-58 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
50 |
320 |
2.7e-6 |
PFAM |
Pfam:7tm_1
|
56 |
305 |
3.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172582
AA Change: N320K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134283 Gene: ENSMUSG00000083947 AA Change: N320K
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
41 |
311 |
9.5e-8 |
PFAM |
Pfam:7tm_1
|
47 |
296 |
7.8e-36 |
PFAM |
Pfam:7tm_4
|
145 |
289 |
1e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215449
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217119
AA Change: N320K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
Other mutations in Or10al6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01338:Or10al6
|
APN |
17 |
38,082,730 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01447:Or10al6
|
APN |
17 |
38,083,122 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4514001:Or10al6
|
UTSW |
17 |
38,082,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Or10al6
|
UTSW |
17 |
38,083,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R0830:Or10al6
|
UTSW |
17 |
38,082,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R2018:Or10al6
|
UTSW |
17 |
38,083,467 (GRCm39) |
missense |
probably benign |
0.00 |
R4258:Or10al6
|
UTSW |
17 |
38,082,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R6371:Or10al6
|
UTSW |
17 |
38,083,326 (GRCm39) |
missense |
probably benign |
|
R6481:Or10al6
|
UTSW |
17 |
38,083,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R7468:Or10al6
|
UTSW |
17 |
38,082,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Or10al6
|
UTSW |
17 |
38,082,571 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8114:Or10al6
|
UTSW |
17 |
38,082,880 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8172:Or10al6
|
UTSW |
17 |
38,083,326 (GRCm39) |
missense |
probably benign |
|
R8728:Or10al6
|
UTSW |
17 |
38,082,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R8894:Or10al6
|
UTSW |
17 |
38,082,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R9659:Or10al6
|
UTSW |
17 |
38,082,880 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Or10al6
|
UTSW |
17 |
38,083,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2013-04-17 |