Incidental Mutation 'R4023:Or8c17'
| ID |
313351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8c17
|
| Ensembl Gene |
ENSMUSG00000096427 |
| Gene Name |
olfactory receptor family 8 subfamily C member 17 |
| Synonyms |
GA_x6K02T2PVTD-31962461-31963411, MOR170-1, Olfr895 |
| MMRRC Submission |
040957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38179297-38181049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38180757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 308
(C308Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093864]
[ENSMUST00000212156]
|
| AlphaFold |
L7N210 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093864
AA Change: C316Y
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091387
Gene: ENSMUSG00000096427
AA Change: C316Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
313 |
4.6e-47 |
PFAM |
|
Pfam:7tm_1
|
47 |
246 |
3.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212156
AA Change: C308Y
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
T |
C |
9: 26,890,481 (GRCm39) |
I276V |
probably benign |
Het |
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,042,077 (GRCm39) |
T1370I |
possibly damaging |
Het |
| Akna |
C |
G |
4: 63,292,627 (GRCm39) |
G1094A |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,568,942 (GRCm39) |
Y871* |
probably null |
Het |
| Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,786 (GRCm39) |
|
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,451,634 (GRCm39) |
I1591T |
possibly damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,143 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,833,266 (GRCm39) |
K318* |
probably null |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,011,099 (GRCm39) |
Y2389N |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,004,995 (GRCm39) |
S408R |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,765,752 (GRCm39) |
C279* |
probably null |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,588,727 (GRCm39) |
T28A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,193,136 (GRCm39) |
Y47H |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
probably benign |
Het |
|
| Other mutations in Or8c17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Or8c17
|
APN |
9 |
38,179,801 (GRCm39) |
splice site |
probably benign |
|
|
IGL01477:Or8c17
|
APN |
9 |
38,180,615 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02150:Or8c17
|
APN |
9 |
38,180,564 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0616:Or8c17
|
UTSW |
9 |
38,180,630 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0738:Or8c17
|
UTSW |
9 |
38,180,421 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3155:Or8c17
|
UTSW |
9 |
38,179,836 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3824:Or8c17
|
UTSW |
9 |
38,179,814 (GRCm39) |
missense |
probably benign |
|
|
R3825:Or8c17
|
UTSW |
9 |
38,179,814 (GRCm39) |
missense |
probably benign |
|
|
R4687:Or8c17
|
UTSW |
9 |
38,180,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4692:Or8c17
|
UTSW |
9 |
38,179,826 (GRCm39) |
nonsense |
probably null |
|
|
R6171:Or8c17
|
UTSW |
9 |
38,179,898 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Or8c17
|
UTSW |
9 |
38,179,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Or8c17
|
UTSW |
9 |
38,179,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Or8c17
|
UTSW |
9 |
38,180,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7774:Or8c17
|
UTSW |
9 |
38,180,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Or8c17
|
UTSW |
9 |
38,180,344 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8354:Or8c17
|
UTSW |
9 |
38,180,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8772:Or8c17
|
UTSW |
9 |
38,180,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8863:Or8c17
|
UTSW |
9 |
38,180,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9371:Or8c17
|
UTSW |
9 |
38,179,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Or8c17
|
UTSW |
9 |
38,179,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGGATGCTTGCTTATGTC -3'
(R):5'- TCTTACAGAAGCAGTAGATATGACACC -3'
Sequencing Primer
(F):5'- ATGTCAAGCCATCATCTGCTGAG -3'
(R):5'- GCAGTAGATATGACACCATCTTAAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation