Incidental Mutation 'R6628:Or5h26'
| ID |
524938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h26
|
| Ensembl Gene |
ENSMUSG00000096695 |
| Gene Name |
olfactory receptor family 5 subfamily H member 26 |
| Synonyms |
MOR183-1, Olfr196, GA_x54KRFPKG5P-55389051-55388122 |
| MMRRC Submission |
044750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58987010-58990817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58988344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 54
(H54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077027]
[ENSMUST00000205471]
|
| AlphaFold |
E9PYP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077027
AA Change: H54R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000076285
Gene: ENSMUSG00000096695
AA Change: H54R
| 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 benign
Transcript: ENSMUST00000205471
AA Change: H54R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
C |
16: 85,592,713 (GRCm39) |
M565R |
probably benign |
Het |
| Cd4 |
A |
G |
6: 124,856,431 (GRCm39) |
L20P |
unknown |
Het |
| Chrm2 |
G |
T |
6: 36,500,292 (GRCm39) |
V50F |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,725,788 (GRCm39) |
T828A |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,989,763 (GRCm39) |
K135E |
probably benign |
Het |
| Clmn |
T |
C |
12: 104,740,045 (GRCm39) |
R961G |
probably damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,514,466 (GRCm39) |
K64E |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,240,591 (GRCm39) |
D213G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,351,598 (GRCm39) |
E139V |
possibly damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,267,246 (GRCm39) |
D928E |
probably benign |
Het |
| Gulo |
T |
C |
14: 66,241,619 (GRCm39) |
K80E |
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,439,946 (GRCm39) |
S63G |
possibly damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Homo |
| Kif27 |
A |
T |
13: 58,502,611 (GRCm39) |
H22Q |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,503,926 (GRCm39) |
D383G |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,111,503 (GRCm39) |
E741G |
probably benign |
Het |
| Mphosph9 |
G |
T |
5: 124,436,825 (GRCm39) |
N506K |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,620,638 (GRCm39) |
S1674P |
probably damaging |
Het |
| Or8j3c |
T |
G |
2: 86,253,361 (GRCm39) |
N220H |
probably benign |
Het |
| Pdcd10 |
A |
G |
3: 75,428,378 (GRCm39) |
V82A |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,272,892 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,049,917 (GRCm39) |
L475P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,040,236 (GRCm39) |
D781G |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,043,236 (GRCm39) |
T751A |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,597,588 (GRCm39) |
Y315* |
probably null |
Het |
| Wrap53 |
T |
C |
11: 69,452,970 (GRCm39) |
K446E |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,661,963 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5h26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02560:Or5h26
|
APN |
16 |
58,987,891 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATCATAGGCCATTGCTGC -3'
(R):5'- CACTGCGTTTCATTTCAGGG -3'
Sequencing Primer
(F):5'- CATAGGCCATTGCTGCCAAGAG -3'
(R):5'- GCGTTTCATTTCAGGGACACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation