Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:Or8k17'

636402

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

067658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86066215-86067177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86066862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 106 (V106M)

Ref Sequence

ENSEMBL: ENSMUSP00000097484 (fasta)

Gene Model

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

AlphaFold

Q8VGS2

Predicted Effect

probably benign
Transcript: ENSMUST00000099900
AA Change: V106M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097484
Gene: ENSMUSG00000075195
AA Change: V106M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
B3gat1	G	A	9: 26,668,165 (GRCm39)	A265T	probably damaging	Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Klhl8	A	G	5: 104,015,466 (GRCm39)	V486A	possibly damaging	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Mtmr12	T	C	15: 12,259,726 (GRCm39)	I365T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Sik1	T	A	17: 32,070,286 (GRCm39)	H141L	probably damaging	Het
Slc9a5	A	T	8: 106,089,956 (GRCm39)	E638V	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		probably null	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
R7642:Or8k17	UTSW	2	86,066,660 (GRCm39)	nonsense	probably null
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
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'- CACAGCTTGGAAGACACTGTAGAG -3'
(R):5'- TTACACACAGGCCTGAGCTG -3'

Sequencing Primer
(F):5'- CACTGTAGAGATAGGGAATGCC -3'
(R):5'- CATAGTCATCTACGGAGTTGCCATG -3'

Posted On

2020-07-13