Mutagenetix > Incidental Mutation

Incidental Mutation 'R7937:Or8c17'

648811

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

045983-MU

Accession Numbers

Essential gene?

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

Stock #

R7937 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38179297-38181049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38180344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 170 (N170K)

Ref Sequence

ENSEMBL: ENSMUSP00000148605 (fasta)

Gene Model

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

AlphaFold

L7N210

Predicted Effect

probably benign
Transcript: ENSMUST00000093864
AA Change: N178K

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091387
Gene: ENSMUSG00000096427
AA Change: N178K

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: N170K

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,870,470 (GRCm39)	T875K	probably damaging	Het
Armc8	G	A	9: 99,418,272 (GRCm39)	T94I	probably damaging	Het
Ash1l	C	T	3: 88,977,624 (GRCm39)	R2685*	probably null	Het
Bri3bp	A	T	5: 125,531,395 (GRCm39)	N114Y	probably damaging	Het
Camkk2	G	T	5: 122,902,097 (GRCm39)	Q71K	probably benign	Het
Cc2d2b	T	C	19: 40,765,736 (GRCm39)	F49S		Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Chd8	A	G	14: 52,464,963 (GRCm39)	F633L	probably benign	Het
Clec2m	A	G	6: 129,307,974 (GRCm39)	W32R	possibly damaging	Het
Cntn5	G	A	9: 9,748,450 (GRCm39)	T477I	probably damaging	Het
Cyp2c37	T	A	19: 39,982,202 (GRCm39)	Y68N	probably damaging	Het
Dnah2	A	T	11: 69,408,511 (GRCm39)	L53*	probably null	Het
Dnajc11	A	G	4: 152,034,909 (GRCm39)	D44G	probably damaging	Het
Elovl3	T	C	19: 46,123,168 (GRCm39)	F248S	probably damaging	Het
Etfdh	A	G	3: 79,517,123 (GRCm39)	L422P	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fgd4	A	G	16: 16,287,637 (GRCm39)	Y355H	probably damaging	Het
Fgfr2	A	G	7: 129,820,823 (GRCm39)	M237T	probably damaging	Het
Gdap1	A	T	1: 17,230,177 (GRCm39)	K203N	probably benign	Het
Glis1	A	G	4: 107,484,723 (GRCm39)	D594G	possibly damaging	Het
Gm4787	T	A	12: 81,424,679 (GRCm39)	H493L	probably benign	Het
Gpatch3	G	T	4: 133,310,308 (GRCm39)	V418L	probably damaging	Het
Greb1	T	C	12: 16,766,670 (GRCm39)	N376S	probably damaging	Het
Hspg2	A	G	4: 137,278,243 (GRCm39)	Q3010R	probably benign	Het
Ice2	T	A	9: 69,318,067 (GRCm39)	F223I	possibly damaging	Het
Marchf11	A	G	15: 26,409,323 (GRCm39)	T341A	probably damaging	Het
Mllt10	A	G	2: 18,210,895 (GRCm39)	K770E	probably damaging	Het
Mug1	A	G	6: 121,838,128 (GRCm39)	T453A	probably benign	Het
Myh15	C	T	16: 48,976,009 (GRCm39)	T1359I	probably benign	Het
Nbn	A	G	4: 15,958,080 (GRCm39)	K3E	probably damaging	Het
Nlrp4a	T	C	7: 26,163,571 (GRCm39)	F913L	probably benign	Het
Nlrx1	G	T	9: 44,176,086 (GRCm39)	A48D	probably damaging	Het
Noc3l	C	G	19: 38,783,447 (GRCm39)	G643A	possibly damaging	Het
Or4f14b	T	C	2: 111,774,875 (GRCm39)	R309G	probably benign	Het
Pde6b	G	T	5: 108,567,639 (GRCm39)		probably null	Het
Phactr1	A	G	13: 43,231,205 (GRCm39)	I247V	unknown	Het
Pid1	G	T	1: 84,093,745 (GRCm39)	Q48K	probably benign	Het
Ppfia2	A	G	10: 106,699,233 (GRCm39)	N794S	probably benign	Het
Ppox	G	A	1: 171,107,546 (GRCm39)	S123L	possibly damaging	Het
Ptprd	A	C	4: 76,013,772 (GRCm39)	D778E	probably benign	Het
Rgs13	A	G	1: 144,016,600 (GRCm39)	Y48H	probably damaging	Het
Rgs17	T	A	10: 5,783,078 (GRCm39)	M190L	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Scaf8	C	T	17: 3,247,482 (GRCm39)	P935L	probably damaging	Het
Slc22a6	T	C	19: 8,601,253 (GRCm39)	I435T	probably benign	Het
Slc34a1	A	G	13: 23,996,648 (GRCm39)	H51R	probably benign	Het
Snx4	T	C	16: 33,112,199 (GRCm39)	L378P	probably damaging	Het
Spns1	A	G	7: 125,973,226 (GRCm39)	L155P	probably damaging	Het
St8sia4	T	C	1: 95,581,320 (GRCm39)	T141A	possibly damaging	Het
Syt10	A	T	15: 89,666,820 (GRCm39)	S510R	probably damaging	Het
Tmprss11d	A	T	5: 86,457,349 (GRCm39)	F241L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,816 (GRCm39)	T143S	probably benign	Het
Trim72	A	G	7: 127,609,491 (GRCm39)	N431S	probably benign	Het
Usp43	A	G	11: 67,746,615 (GRCm39)	S1031P	probably damaging	Het
Wdr75	A	G	1: 45,858,799 (GRCm39)	Y656C	probably benign	Het
Zfp28	T	C	7: 6,396,785 (GRCm39)	C407R	probably damaging	Het
Zfp804b	C	T	5: 6,821,866 (GRCm39)	R399Q	possibly damaging	Het
Zfp949	T	A	9: 88,451,323 (GRCm39)	C298S	probably damaging	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
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'- TCTGAGAGTTATGTGCTGACAGC -3'
(R):5'- GTGAGAACCACAAGTGCCCAAG -3'

Sequencing Primer
(F):5'- CAGCAATGGCCTATGATCGCTATG -3'
(R):5'- AGGCTTTGGACCAACCCTTAC -3'

Posted On

2020-09-15