Incidental Mutation 'IGL02560:Or8k39'
| ID |
298187 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8k39
|
| Ensembl Gene |
ENSMUSG00000111711 |
| Gene Name |
olfactory receptor family 8 subfamily K member 39 |
| Synonyms |
Olfr1089, MOR193-1, GA_x6K02T2Q125-48226321-48225386 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL02560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
86563019-86563954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86563578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 126
(I126N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214317]
|
| AlphaFold |
A0A1L1SRK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099876
AA Change: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: I126N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
310 |
4.7e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214317
AA Change: I126N
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
| Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
| Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
| Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
| Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
| Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
| Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
| Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
Het |
|
| Other mutations in Or8k39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Or8k39
|
APN |
2 |
86,563,579 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00944:Or8k39
|
APN |
2 |
86,563,905 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01478:Or8k39
|
APN |
2 |
86,563,673 (GRCm39) |
nonsense |
probably null |
|
|
IGL01636:Or8k39
|
APN |
2 |
86,563,945 (GRCm39) |
nonsense |
probably null |
|
|
IGL01887:Or8k39
|
APN |
2 |
86,563,030 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02008:Or8k39
|
APN |
2 |
86,563,521 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02470:Or8k39
|
APN |
2 |
86,563,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1782:Or8k39
|
UTSW |
2 |
86,563,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2234:Or8k39
|
UTSW |
2 |
86,563,921 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2866:Or8k39
|
UTSW |
2 |
86,563,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3027:Or8k39
|
UTSW |
2 |
86,563,930 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4275:Or8k39
|
UTSW |
2 |
86,563,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Or8k39
|
UTSW |
2 |
86,563,018 (GRCm39) |
splice site |
probably null |
|
|
R5016:Or8k39
|
UTSW |
2 |
86,563,090 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5154:Or8k39
|
UTSW |
2 |
86,563,121 (GRCm39) |
nonsense |
probably null |
|
|
R5355:Or8k39
|
UTSW |
2 |
86,563,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Or8k39
|
UTSW |
2 |
86,563,149 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6265:Or8k39
|
UTSW |
2 |
86,563,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7382:Or8k39
|
UTSW |
2 |
86,563,129 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8009:Or8k39
|
UTSW |
2 |
86,563,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8850:Or8k39
|
UTSW |
2 |
86,563,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9652:Or8k39
|
UTSW |
2 |
86,563,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Or8k39
|
UTSW |
2 |
86,563,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation