Incidental Mutation 'R1279:Or5h17'
| ID |
150985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h17
|
| Ensembl Gene |
ENSMUSG00000062105 |
| Gene Name |
olfactory receptor family 5 subfamily H member 17 |
| Synonyms |
MOR183-2, Olfr183, GA_x54KRFPKG5P-55229158-55230087 |
| MMRRC Submission |
039345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1279 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58815720-58821804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58820501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 151
(G151D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073320]
[ENSMUST00000206303]
[ENSMUST00000213465]
[ENSMUST00000214831]
[ENSMUST00000214916]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073320
AA Change: G151D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: G151D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.7e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206303
AA Change: G151D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213465
AA Change: G151D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214831
AA Change: G151D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214916
AA Change: G151D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,878,298 (GRCm39) |
M325K |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17305 |
TCTCCTCCTCCTCCTCCTCCTC |
TCTCCTCCTCCTCCTCCTC |
11: 69,260,175 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,503,722 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,591,660 (GRCm39) |
|
probably null |
Het |
| Oas1a |
A |
G |
5: 121,035,241 (GRCm39) |
|
probably null |
Het |
| Oat |
A |
T |
7: 132,168,809 (GRCm39) |
L137H |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,435,300 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,678 (GRCm39) |
I181V |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,530,888 (GRCm39) |
S45G |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,799,427 (GRCm39) |
S488P |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,046,524 (GRCm39) |
T873I |
probably benign |
Het |
| Ppp4r2 |
A |
T |
6: 100,842,879 (GRCm39) |
R176* |
probably null |
Het |
| Pramel51 |
C |
T |
12: 88,142,650 (GRCm39) |
V323M |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,508,146 (GRCm39) |
L932F |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,018,262 (GRCm39) |
A799S |
possibly damaging |
Het |
| Scn4a |
A |
T |
11: 106,226,508 (GRCm39) |
I684N |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,990 (GRCm39) |
F124L |
probably damaging |
Het |
| Tacr1 |
G |
T |
6: 82,534,164 (GRCm39) |
E397* |
probably null |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,934 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,895,941 (GRCm39) |
S232P |
probably damaging |
Het |
|
| Other mutations in Or5h17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02294:Or5h17
|
APN |
16 |
58,820,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02795:Or5h17
|
APN |
16 |
58,820,640 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02803:Or5h17
|
APN |
16 |
58,820,321 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02837:Or5h17
|
UTSW |
16 |
58,820,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Or5h17
|
UTSW |
16 |
58,820,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0372:Or5h17
|
UTSW |
16 |
58,820,450 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0652:Or5h17
|
UTSW |
16 |
58,820,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0890:Or5h17
|
UTSW |
16 |
58,820,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1429:Or5h17
|
UTSW |
16 |
58,820,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1473:Or5h17
|
UTSW |
16 |
58,820,275 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2115:Or5h17
|
UTSW |
16 |
58,820,783 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2117:Or5h17
|
UTSW |
16 |
58,820,783 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4508:Or5h17
|
UTSW |
16 |
58,820,138 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4709:Or5h17
|
UTSW |
16 |
58,820,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4929:Or5h17
|
UTSW |
16 |
58,820,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Or5h17
|
UTSW |
16 |
58,820,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5522:Or5h17
|
UTSW |
16 |
58,820,268 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5571:Or5h17
|
UTSW |
16 |
58,820,569 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5685:Or5h17
|
UTSW |
16 |
58,820,709 (GRCm39) |
missense |
probably benign |
|
|
R6064:Or5h17
|
UTSW |
16 |
58,820,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7443:Or5h17
|
UTSW |
16 |
58,820,353 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7870:Or5h17
|
UTSW |
16 |
58,820,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8085:Or5h17
|
UTSW |
16 |
58,820,432 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8459:Or5h17
|
UTSW |
16 |
58,820,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Or5h17
|
UTSW |
16 |
58,820,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9268:Or5h17
|
UTSW |
16 |
58,820,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9569:Or5h17
|
UTSW |
16 |
58,820,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTATCATCCACAGTGACACCGAG -3'
(R):5'- GTCTACTTCTGAAGATGCAGGGTGC -3'
Sequencing Primer
(F):5'- GTGACACCGAGGATGCTATTTAATC -3'
(R):5'- AGGCCCATAGTATAAAGATACAGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation