Incidental Mutation 'R0843:Or8c15'
| ID |
77255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8c15
|
| Ensembl Gene |
ENSMUSG00000093901 |
| Gene Name |
olfactory receptor family 8 subfamily C member 15 |
| Synonyms |
GA_x6K02T2PVTD-31889215-31890153, Olfr893, MOR170-11 |
| MMRRC Submission |
039022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R0843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38120348-38121289 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38120579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 77
(F77I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093867]
[ENSMUST00000211975]
|
| AlphaFold |
K7N678 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093867
AA Change: F77I
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091390
Gene: ENSMUSG00000093901
AA Change: F77I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
309 |
1.2e-45 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
8e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211975
AA Change: F75I
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212815
AA Change: F24I
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (40/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,922 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
| Cenpn |
T |
C |
8: 117,660,045 (GRCm39) |
V125A |
probably benign |
Het |
| Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
| Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,161,717 (GRCm39) |
I347N |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
| Kctd3 |
A |
T |
1: 188,729,170 (GRCm39) |
L129* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
| Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
| Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,986 (GRCm39) |
E64G |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
| Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
| Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
| Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,709,328 (GRCm39) |
S514P |
probably benign |
Het |
| Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or8c15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Or8c15
|
APN |
9 |
38,120,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00914:Or8c15
|
APN |
9 |
38,121,095 (GRCm39) |
splice site |
probably null |
|
|
IGL01563:Or8c15
|
APN |
9 |
38,120,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01696:Or8c15
|
APN |
9 |
38,120,345 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02064:Or8c15
|
APN |
9 |
38,120,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Or8c15
|
APN |
9 |
38,120,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0415:Or8c15
|
UTSW |
9 |
38,121,269 (GRCm39) |
missense |
probably benign |
|
|
R0463:Or8c15
|
UTSW |
9 |
38,120,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1441:Or8c15
|
UTSW |
9 |
38,120,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Or8c15
|
UTSW |
9 |
38,120,725 (GRCm39) |
nonsense |
probably null |
|
|
R2512:Or8c15
|
UTSW |
9 |
38,120,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Or8c15
|
UTSW |
9 |
38,120,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5439:Or8c15
|
UTSW |
9 |
38,121,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6918:Or8c15
|
UTSW |
9 |
38,120,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7621:Or8c15
|
UTSW |
9 |
38,120,447 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7715:Or8c15
|
UTSW |
9 |
38,120,775 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7940:Or8c15
|
UTSW |
9 |
38,120,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Or8c15
|
UTSW |
9 |
38,121,066 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8712:Or8c15
|
UTSW |
9 |
38,121,099 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8882:Or8c15
|
UTSW |
9 |
38,120,461 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACAATTGAATGCCATGCAGC -3'
(R):5'- CATTAGCAGGGAACACATCCGAGG -3'
Sequencing Primer
(F):5'- CATGGAGAATGACTCTTCTGTGAC -3'
(R):5'- AGGATGGCATATACCAATGGCTTAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation