Incidental Mutation 'IGL02560:Or5h26'
| ID |
298193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5h26
|
| Ensembl Gene |
ENSMUSG00000096695 |
| Gene Name |
olfactory receptor family 5 subfamily H member 26 |
| Synonyms |
MOR183-1, Olfr196, GA_x54KRFPKG5P-55389051-55388122 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58987010-58990817 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 58987891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 205
(S205*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077027]
[ENSMUST00000205471]
[ENSMUST00000207673]
|
| AlphaFold |
E9PYP4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077027
AA Change: S205*
|
| SMART Domains |
Protein: ENSMUSP00000076285
Gene: ENSMUSG00000096695
AA Change: S205*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.1e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205471
AA Change: S205*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207673
AA Change: S205*
|
| 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 |
| Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably 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 Or5h26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4495001:Or5h26
|
UTSW |
16 |
58,988,337 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0312:Or5h26
|
UTSW |
16 |
58,988,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0345:Or5h26
|
UTSW |
16 |
58,988,269 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0644:Or5h26
|
UTSW |
16 |
58,987,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0679:Or5h26
|
UTSW |
16 |
58,987,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Or5h26
|
UTSW |
16 |
58,988,264 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1818:Or5h26
|
UTSW |
16 |
58,988,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2090:Or5h26
|
UTSW |
16 |
58,988,503 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5327:Or5h26
|
UTSW |
16 |
58,987,983 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5945:Or5h26
|
UTSW |
16 |
58,988,482 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6093:Or5h26
|
UTSW |
16 |
58,988,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Or5h26
|
UTSW |
16 |
58,987,656 (GRCm39) |
splice site |
probably null |
|
|
R6487:Or5h26
|
UTSW |
16 |
58,988,536 (GRCm39) |
splice site |
probably null |
|
|
R6628:Or5h26
|
UTSW |
16 |
58,988,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6679:Or5h26
|
UTSW |
16 |
58,988,209 (GRCm39) |
missense |
probably benign |
|
|
R7642:Or5h26
|
UTSW |
16 |
58,988,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8285:Or5h26
|
UTSW |
16 |
58,988,176 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8336:Or5h26
|
UTSW |
16 |
58,987,918 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation