Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Or8c17'

660608

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

067806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38179297-38181049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38180513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 235 (S235P)

Ref Sequence

ENSEMBL: ENSMUSP00000091387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093864] [ENSMUST00000212156]

AlphaFold

L7N210

Predicted Effect

probably benign
Transcript: ENSMUST00000093864
AA Change: S235P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091387
Gene: ENSMUSG00000096427
AA Change: S235P

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

probably benign
Transcript: ENSMUST00000212156
AA Change: S227P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,676,297 (GRCm39)	S353R	probably damaging	Het
Ap1ar	T	C	3: 127,606,428 (GRCm39)		probably null	Het
Asxl1	C	A	2: 153,235,345 (GRCm39)	N213K	probably benign	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,401,334 (GRCm39)	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,233,414 (GRCm39)	V296I	probably benign	Het
Cldn5	A	G	16: 18,596,043 (GRCm39)	T100A	probably benign	Het
Ctnna1	C	A	18: 35,385,776 (GRCm39)	N802K	possibly damaging	Het
Dennd2b	G	A	7: 109,124,755 (GRCm39)	R675*	probably null	Het
Dip2c	A	G	13: 9,671,918 (GRCm39)	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,862,234 (GRCm39)	D203V	probably benign	Het
Dnajc13	A	G	9: 104,094,927 (GRCm39)	M585T	probably damaging	Het
Donson	G	T	16: 91,480,685 (GRCm39)	T262K	possibly damaging	Het
E2f3	T	A	13: 30,169,787 (GRCm39)		probably benign	Het
Fam110c	A	G	12: 31,125,178 (GRCm39)	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,242,027 (GRCm39)	T177P	probably damaging	Het
Gins3	C	T	8: 96,364,646 (GRCm39)	A132V	probably benign	Het
Glra3	T	A	8: 56,578,345 (GRCm39)	Y467*	probably null	Het
Gm7138	A	G	10: 77,612,444 (GRCm39)		probably benign	Het
Golim4	T	C	3: 75,802,308 (GRCm39)	E328G	probably damaging	Het
Habp2	T	A	19: 56,301,388 (GRCm39)	C270*	probably null	Het
Hecw2	A	G	1: 53,964,467 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,634,142 (GRCm39)	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,887,619 (GRCm39)	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,220,260 (GRCm39)	V57A	probably damaging	Het
Itpkb	G	A	1: 180,160,908 (GRCm39)	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,334,893 (GRCm39)	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,127,211 (GRCm39)	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,375,235 (GRCm39)	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Krt10	A	G	11: 99,280,086 (GRCm39)		probably benign	Het
Lgals3bp	T	A	11: 118,289,367 (GRCm39)	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,843 (GRCm39)	L293P	probably damaging	Het
Mical3	T	C	6: 120,950,381 (GRCm39)	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,169,224 (GRCm39)	R380L	probably damaging	Het
Msh5	A	G	17: 35,250,742 (GRCm39)	F469L	possibly damaging	Het
Ncam2	A	G	16: 81,309,847 (GRCm39)	T446A	probably benign	Het
Neurl4	A	G	11: 69,800,062 (GRCm39)	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,509,793 (GRCm39)	Y714H	possibly damaging	Het
Or5d43	T	C	2: 88,105,036 (GRCm39)	D119G	probably damaging	Het
Pcnx2	T	C	8: 126,488,357 (GRCm39)	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,681,707 (GRCm39)	L1051Q	probably damaging	Het
Prkag2	T	A	5: 25,074,137 (GRCm39)	R283*	probably null	Het
Prrc1	T	A	18: 57,504,503 (GRCm39)	M238K	probably damaging	Het
Ptprj	T	C	2: 90,300,061 (GRCm39)	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,614 (GRCm39)	Y568C	probably damaging	Het
Rab36	G	A	10: 74,884,291 (GRCm39)	A114T	probably damaging	Het
Rfx7	T	C	9: 72,526,731 (GRCm39)	V1307A	probably benign	Het
Scaf1	A	C	7: 44,657,251 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,866 (GRCm39)	T440S	probably benign	Het
Setbp1	A	T	18: 78,900,598 (GRCm39)	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931 (GRCm39)	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313 (GRCm38)	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,222,753 (GRCm39)	H162R	probably benign	Het
Spata31f1e	T	A	4: 42,793,223 (GRCm39)	H303L	probably benign	Het
Strip2	G	A	6: 29,920,531 (GRCm39)		probably null	Het
Stx2	T	A	5: 129,071,932 (GRCm39)	I42L	probably benign	Het
Tas2r124	A	T	6: 132,732,410 (GRCm39)	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,115,070 (GRCm39)	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,766,181 (GRCm39)	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,018,439 (GRCm39)	T74A	possibly damaging	Het
Trim16	G	T	11: 62,727,587 (GRCm39)	R216L	probably benign	Het
Trmt10c	T	C	16: 55,854,870 (GRCm39)	K255R	probably benign	Het
Trpm2	A	T	10: 77,769,483 (GRCm39)	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,399,005 (GRCm39)	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928 (GRCm39)	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 78,984,710 (GRCm39)	I21F	probably benign	Het
Wdr11	T	C	7: 129,204,723 (GRCm39)	L176S	probably damaging	Het
Zfp992	A	G	4: 146,551,319 (GRCm39)	T347A	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
R4023:Or8c17	UTSW	9	38,180,757 (GRCm39)	missense	possibly damaging	0.83
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
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'- TGTTAGTGCCTTATTCCATACAGG -3'
(R):5'- AGAGGATTCAGCATGGGCAC -3'

Sequencing Primer
(F):5'- CCATACAGGTTTTATGATAAGGCTC -3'
(R):5'- TCAGCAGATGATGGCTTG -3'

Posted On

2021-01-18