Incidental Mutation 'IGL02372:Or8s8'
| ID |
290952 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8s8
|
| Ensembl Gene |
ENSMUSG00000032987 |
| Gene Name |
olfactory receptor family 8 subfamily S member 8 |
| Synonyms |
GA_x6K02T2NBG7-5275017-5274082, Olfr281, MOR160-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98354193-98355128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98354709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 173
(T173S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109163]
[ENSMUST00000217517]
|
| AlphaFold |
Q8VET6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109163
AA Change: T173S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104791
Gene: ENSMUSG00000032987
AA Change: T173S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
3.8e-54 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
277 |
2.2e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
2.4e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217517
AA Change: T173S
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
| Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or8s8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Or8s8
|
APN |
15 |
98,354,299 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01016:Or8s8
|
APN |
15 |
98,354,186 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02730:Or8s8
|
APN |
15 |
98,354,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Or8s8
|
UTSW |
15 |
98,354,959 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1714:Or8s8
|
UTSW |
15 |
98,354,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Or8s8
|
UTSW |
15 |
98,354,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4169:Or8s8
|
UTSW |
15 |
98,354,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4902:Or8s8
|
UTSW |
15 |
98,354,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5014:Or8s8
|
UTSW |
15 |
98,354,857 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6082:Or8s8
|
UTSW |
15 |
98,354,647 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6378:Or8s8
|
UTSW |
15 |
98,354,425 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7383:Or8s8
|
UTSW |
15 |
98,354,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Or8s8
|
UTSW |
15 |
98,354,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Or8s8
|
UTSW |
15 |
98,354,866 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7912:Or8s8
|
UTSW |
15 |
98,354,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8750:Or8s8
|
UTSW |
15 |
98,354,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9326:Or8s8
|
UTSW |
15 |
98,354,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Or8s8
|
UTSW |
15 |
98,354,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation