Incidental Mutation 'IGL00161:Or8g26'
| ID |
1324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8g26
|
| Ensembl Gene |
ENSMUSG00000094970 |
| Gene Name |
olfactory receptor family 8 subfamily G member 26 |
| Synonyms |
MOR171-44, GA_x6K02T2PVTD-32881408-32882343, Olfr943 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL00161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39077606-39096420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39096388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 305
(K305E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071617]
[ENSMUST00000213176]
[ENSMUST00000213507]
[ENSMUST00000213830]
[ENSMUST00000215770]
|
| AlphaFold |
Q9EQ92 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071617
AA Change: K305E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071545
Gene: ENSMUSG00000094970
AA Change: K305E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
27 |
183 |
9.4e-7 |
PFAM |
|
Pfam:7tm_4
|
34 |
311 |
7.4e-55 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
6.9e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213176
AA Change: K302E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213507
AA Change: K302E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213716
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213830
AA Change: K302E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215770
AA Change: K302E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,375,719 (GRCm39) |
V1932E |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,426,608 (GRCm39) |
V211A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,992,309 (GRCm39) |
T1148A |
probably benign |
Het |
| Dmbt1 |
G |
T |
7: 130,711,357 (GRCm39) |
D1538Y |
probably damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Gsto2 |
A |
G |
19: 47,863,406 (GRCm39) |
D94G |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,877 (GRCm39) |
I882V |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,617,147 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,007 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,088 (GRCm39) |
C272* |
probably null |
Het |
| Or4c123 |
A |
G |
2: 89,126,799 (GRCm39) |
C272R |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,086,299 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,158,657 (GRCm39) |
Y532H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,879,353 (GRCm39) |
|
probably null |
Het |
| Potefam3e |
T |
C |
8: 19,799,499 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,321 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,534 (GRCm39) |
R238Q |
possibly damaging |
Het |
| Rdx |
A |
G |
9: 51,997,646 (GRCm39) |
D540G |
probably damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,238 (GRCm39) |
D168E |
possibly damaging |
Het |
| Slc30a5 |
A |
C |
13: 100,943,174 (GRCm39) |
D561E |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,195,562 (GRCm39) |
R252* |
probably null |
Het |
| Spata31g1 |
A |
T |
4: 42,973,982 (GRCm39) |
H1105L |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,692 (GRCm39) |
E121G |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,097,726 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
T |
C |
7: 5,886,827 (GRCm39) |
T239A |
probably damaging |
Het |
|
| Other mutations in Or8g26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02858:Or8g26
|
APN |
9 |
39,095,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Or8g26
|
APN |
9 |
39,095,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Or8g26
|
APN |
9 |
39,096,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Or8g26
|
UTSW |
9 |
39,095,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0881:Or8g26
|
UTSW |
9 |
39,095,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2474:Or8g26
|
UTSW |
9 |
39,095,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3718:Or8g26
|
UTSW |
9 |
39,096,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4358:Or8g26
|
UTSW |
9 |
39,095,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Or8g26
|
UTSW |
9 |
39,095,664 (GRCm39) |
nonsense |
probably null |
|
|
R4763:Or8g26
|
UTSW |
9 |
39,096,256 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4788:Or8g26
|
UTSW |
9 |
39,095,908 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4824:Or8g26
|
UTSW |
9 |
39,095,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4866:Or8g26
|
UTSW |
9 |
39,096,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Or8g26
|
UTSW |
9 |
39,095,480 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6278:Or8g26
|
UTSW |
9 |
39,095,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Or8g26
|
UTSW |
9 |
39,096,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7721:Or8g26
|
UTSW |
9 |
39,096,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8089:Or8g26
|
UTSW |
9 |
39,095,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Or8g26
|
UTSW |
9 |
39,095,689 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8818:Or8g26
|
UTSW |
9 |
39,096,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Or8g26
|
UTSW |
9 |
39,095,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9481:Or8g26
|
UTSW |
9 |
39,096,172 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9761:Or8g26
|
UTSW |
9 |
39,096,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-07-12 |
Incidental Mutation