Incidental Mutation 'IGL02294:Or5h17'
| ID |
290143 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5h17
|
| Ensembl Gene |
ENSMUSG00000062105 |
| Gene Name |
olfactory receptor family 5 subfamily H member 17 |
| Synonyms |
MOR183-2, Olfr183, GA_x54KRFPKG5P-55229158-55230087 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58815720-58821804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58820428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 127
(C127R)
|
| 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 |
probably damaging
Transcript: ENSMUST00000073320
AA Change: C127R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: C127R
| 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 |
probably damaging
Transcript: ENSMUST00000206303
AA Change: C127R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213465
AA Change: C127R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214831
AA Change: C127R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214916
AA Change: C127R
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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,439,146 (GRCm39) |
V749A |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 105,943,931 (GRCm39) |
D1181G |
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,162,520 (GRCm39) |
S1213P |
possibly damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,085,351 (GRCm39) |
M1066K |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,701,102 (GRCm39) |
T1999N |
probably damaging |
Het |
| Flg2 |
C |
T |
3: 93,111,053 (GRCm39) |
A1027V |
unknown |
Het |
| Gbp5 |
T |
A |
3: 142,209,588 (GRCm39) |
V178E |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hps3 |
T |
C |
3: 20,068,212 (GRCm39) |
E482G |
probably damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,201 (GRCm39) |
A200V |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
| Ly6g |
T |
A |
15: 75,030,413 (GRCm39) |
I77N |
possibly damaging |
Het |
| Oprk1 |
T |
G |
1: 5,672,610 (GRCm39) |
M249R |
probably damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,975 (GRCm39) |
L153P |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,391,606 (GRCm39) |
|
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,208,384 (GRCm39) |
I298T |
probably benign |
Het |
| Sox21 |
A |
G |
14: 118,472,950 (GRCm39) |
M33T |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,243,240 (GRCm39) |
T82S |
probably benign |
Het |
| Stard13 |
T |
C |
5: 150,986,580 (GRCm39) |
D310G |
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,831,427 (GRCm39) |
Q1431K |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,259,281 (GRCm39) |
K446* |
probably null |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
|
| Other mutations in Or5h17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1279:Or5h17
|
UTSW |
16 |
58,820,501 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation