Mutagenetix > Incidental Mutation

Incidental Mutation 'R7642:Or8k17'

590281

Institutional Source

Beutler Lab

Gene Symbol

Or8k17

Ensembl Gene

ENSMUSG00000075195

Gene Name

olfactory receptor family 8 subfamily K member 17

Synonyms

GA_x6K02T2Q125-47716657-47715716, MOR187-2, Olfr1048

MMRRC Submission

045645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R7642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86066215-86067177 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86066660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 166 (L166*)

Ref Sequence

ENSEMBL: ENSMUSP00000150508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099900] [ENSMUST00000215607] [ENSMUST00000216056]

AlphaFold

Q8VGS2

Predicted Effect

probably null
Transcript: ENSMUST00000099900
AA Change: L173*

SMART Domains

Protein: ENSMUSP00000097484
Gene: ENSMUSG00000075195
AA Change: L173*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	1.4e-49	PFAM
Pfam:7TM_GPCR_Srsx	42	312	3.5e-6	PFAM
Pfam:7tm_1	48	297	4.5e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000215607
AA Change: L166*

Predicted Effect

probably benign
Transcript: ENSMUST00000216056

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b1	T	C	13: 94,613,540 (GRCm39)	S680P	probably benign	Het
Carmil1	T	C	13: 24,251,189 (GRCm39)	T844A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Clca4a	A	T	3: 144,659,512 (GRCm39)	D781E	probably benign	Het
Col10a1	A	G	10: 34,271,638 (GRCm39)	M537V	probably benign	Het
Col5a2	A	G	1: 45,415,248 (GRCm39)	M1497T	probably benign	Het
Csmd1	T	A	8: 16,135,192 (GRCm39)	I1655F	probably damaging	Het
Cts3	A	G	13: 61,716,589 (GRCm39)	S16P	probably benign	Het
Cyp2c67	T	C	19: 39,604,084 (GRCm39)	Y424C	probably damaging	Het
Dip2c	T	C	13: 9,672,741 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,248,125 (GRCm39)		probably null	Het
Dpp4	A	G	2: 62,190,627 (GRCm39)		probably null	Het
Fam135b	T	G	15: 71,350,991 (GRCm39)	N295T	possibly damaging	Het
Fign	A	G	2: 63,810,916 (GRCm39)	V118A	probably benign	Het
Gpr108	A	T	17: 57,543,228 (GRCm39)	Y480*	probably null	Het
Ky	T	C	9: 102,419,469 (GRCm39)	V492A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lrrc30	C	T	17: 67,939,472 (GRCm39)	G36E	probably damaging	Het
Map2	T	C	1: 66,452,466 (GRCm39)	V452A	probably benign	Het
Mks1	C	T	11: 87,747,666 (GRCm39)	T183M	possibly damaging	Het
Mpg	G	A	11: 32,179,517 (GRCm39)		probably null	Het
Nat10	A	G	2: 103,557,131 (GRCm39)	L841P	possibly damaging	Het
Nbeal1	A	G	1: 60,316,386 (GRCm39)	E1863G	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nr2e3	T	A	9: 59,854,671 (GRCm39)	I292F	possibly damaging	Het
Nxn	T	C	11: 76,163,285 (GRCm39)	Y246C	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or4f4b	T	C	2: 111,313,823 (GRCm39)	F44S	probably damaging	Het
Or5ac15	T	G	16: 58,940,011 (GRCm39)	T141P	possibly damaging	Het
Or5h26	A	G	16: 58,988,080 (GRCm39)	V142A	probably benign	Het
Pcdha5	T	A	18: 37,093,544 (GRCm39)	F18I	probably benign	Het
Pcdhb17	A	G	18: 37,618,779 (GRCm39)	K190E	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ppm1g	G	T	5: 31,362,447 (GRCm39)	Y284*	probably null	Het
Rp1	A	G	1: 4,218,054 (GRCm39)	V1026A	unknown	Het
Scap	C	T	9: 110,203,081 (GRCm39)	R252C	probably damaging	Het
Scn9a	C	A	2: 66,366,580 (GRCm39)	K734N	probably benign	Het
Sema5a	C	T	15: 32,682,471 (GRCm39)	S955F	probably damaging	Het
Serpinb10	A	G	1: 107,456,831 (GRCm39)		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh2d5	A	G	4: 137,986,467 (GRCm39)	T397A	probably benign	Het
Slc22a8	T	C	19: 8,587,409 (GRCm39)	F490L	probably benign	Het
Tbc1d19	A	T	5: 54,014,260 (GRCm39)	Y296F	probably damaging	Het
Tmppe	T	C	9: 114,233,862 (GRCm39)	S54P	possibly damaging	Het
Vmn1r123	A	T	7: 20,896,795 (GRCm39)	N229I	probably benign	Het
Wdr36	T	A	18: 32,987,624 (GRCm39)		probably null	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Wscd2	A	T	5: 113,715,475 (GRCm39)	K438N	possibly damaging	Het
Xrcc6	T	A	15: 81,900,678 (GRCm39)		probably null	Het
Xrn1	T	A	9: 95,903,906 (GRCm39)	F1148I	possibly damaging	Het
Zmynd8	T	C	2: 165,654,346 (GRCm39)	D722G	probably damaging	Het

Other mutations in Or8k17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:Or8k17	APN	2	86,066,456 (GRCm39)	missense	probably damaging	1.00
IGL01974:Or8k17	APN	2	86,066,304 (GRCm39)	missense	probably benign	0.26
IGL03072:Or8k17	APN	2	86,066,804 (GRCm39)	missense	probably damaging	1.00
R0714:Or8k17	UTSW	2	86,066,498 (GRCm39)	missense	probably damaging	1.00
R1630:Or8k17	UTSW	2	86,066,430 (GRCm39)	missense	probably damaging	1.00
R1907:Or8k17	UTSW	2	86,066,454 (GRCm39)	missense	possibly damaging	0.83
R5642:Or8k17	UTSW	2	86,066,276 (GRCm39)	missense	probably damaging	1.00
R7066:Or8k17	UTSW	2	86,067,002 (GRCm39)	missense	probably damaging	1.00
R8158:Or8k17	UTSW	2	86,066,504 (GRCm39)	missense	probably damaging	1.00
R8215:Or8k17	UTSW	2	86,066,862 (GRCm39)	missense	probably benign	0.00
R8217:Or8k17	UTSW	2	86,066,862 (GRCm39)	missense	probably benign	0.00
R8218:Or8k17	UTSW	2	86,066,862 (GRCm39)	missense	probably benign	0.00
R8295:Or8k17	UTSW	2	86,066,916 (GRCm39)	missense	probably benign	0.01
R8836:Or8k17	UTSW	2	86,066,888 (GRCm39)	missense	probably benign	0.23
R9416:Or8k17	UTSW	2	86,066,744 (GRCm39)	missense	probably damaging	0.97
R9457:Or8k17	UTSW	2	86,066,816 (GRCm39)	missense	probably damaging	0.99
R9498:Or8k17	UTSW	2	86,066,838 (GRCm39)	missense	probably damaging	1.00
Z1176:Or8k17	UTSW	2	86,066,802 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACCCACAAGTTGAAAAGGC -3'
(R):5'- TGCATTCATCATCAGTGAACTG -3'

Sequencing Primer
(F):5'- GCAGAATGCATTCTATATATGGCCAG -3'
(R):5'- ACTGTTTATATTGTCTGCAATGGCC -3'

Posted On

2019-10-24