Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Or8k17'

636456

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

067637-MU

Accession Numbers

Essential gene?

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

Stock #

R8218 (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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,839,668 (GRCm39)	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,536,769 (GRCm39)	L155*	probably null	Het
Ackr4	T	C	9: 103,976,410 (GRCm39)	N179S	probably benign	Het
Acp5	T	C	9: 22,040,902 (GRCm39)	Y107C	probably damaging	Het
Aff4	A	T	11: 53,289,084 (GRCm39)	H411L	probably damaging	Het
Atp5pb	A	G	3: 105,866,502 (GRCm39)	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728 (GRCm39)		probably null	Het
C1qtnf2	A	G	11: 43,381,775 (GRCm39)	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,112,398 (GRCm39)	D170G	probably damaging	Het
Dennd3	T	A	15: 73,384,622 (GRCm39)	S10T	probably benign	Het
Ehbp1	T	C	11: 22,046,096 (GRCm39)	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 110,673,639 (GRCm39)	D743E	possibly damaging	Het
Esr1	G	A	10: 4,696,808 (GRCm39)		probably null	Het
Exo1	A	T	1: 175,728,480 (GRCm39)	I515L	probably benign	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Garin1a	T	C	6: 29,286,072 (GRCm39)	I177T	probably damaging	Het
Gcn1	G	A	5: 115,719,588 (GRCm39)	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613 (GRCm38)		probably null	Het
Grk4	T	A	5: 34,826,540 (GRCm39)	S47T	probably benign	Het
Gstp2	C	A	19: 4,091,668 (GRCm39)	M20I	probably benign	Het
Harbi1	T	C	2: 91,543,237 (GRCm39)	F233L	probably benign	Het
Iqch	C	T	9: 63,389,915 (GRCm39)	V755I	possibly damaging	Het
Iws1	T	C	18: 32,226,688 (GRCm39)	F756L	probably benign	Het
Kcnh6	T	G	11: 105,908,200 (GRCm39)	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,196,539 (GRCm39)	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,488,104 (GRCm39)	S4670A	probably damaging	Het
Krt80	T	G	15: 101,267,884 (GRCm39)	M18L	probably benign	Het
Lbx1	A	G	19: 45,223,359 (GRCm39)	V103A	probably benign	Het
Marchf8	A	T	6: 116,315,059 (GRCm39)		probably benign	Het
Muc16	T	A	9: 18,548,315 (GRCm39)	T5993S	possibly damaging	Het
Or10ag57	C	T	2: 87,218,922 (GRCm39)	T291I	probably damaging	Het
Or1j17	A	G	2: 36,578,685 (GRCm39)	T224A	probably benign	Het
Or1o4	A	G	17: 37,590,711 (GRCm39)	V200A	probably benign	Het
Pbxip1	A	G	3: 89,352,902 (GRCm39)	I183V	probably benign	Het
Pcdh20	T	A	14: 88,706,047 (GRCm39)	I418F	probably damaging	Het
Pclo	T	C	5: 14,725,677 (GRCm39)	F1512L	unknown	Het
Phf2	G	T	13: 48,958,104 (GRCm39)	T970K	unknown	Het
Pidd1	A	G	7: 141,019,566 (GRCm39)	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,491,996 (GRCm39)	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,142,250 (GRCm39)	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,699,236 (GRCm39)	D795G	probably benign	Het
Pramel12	A	T	4: 143,145,706 (GRCm39)	I392F	probably benign	Het
Prkar2a	C	A	9: 108,596,448 (GRCm39)	A131D	possibly damaging	Het
Pter	A	G	2: 12,985,366 (GRCm39)	D232G	probably damaging	Het
Qser1	C	T	2: 104,593,268 (GRCm39)	R1583Q	probably damaging	Het
Rasal2	A	C	1: 156,984,951 (GRCm39)	V932G	probably damaging	Het
Rasgrf2	G	A	13: 92,130,796 (GRCm39)	A154V		Het
Rbm4	A	G	19: 4,837,444 (GRCm39)	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,584,085 (GRCm39)		probably null	Het
Robo1	C	G	16: 72,786,678 (GRCm39)	R897G	possibly damaging	Het
Sash1	G	A	10: 8,627,000 (GRCm39)	T364I	probably damaging	Het
Skint6	T	A	4: 112,696,471 (GRCm39)		probably null	Het
Slc22a4	T	A	11: 53,877,407 (GRCm39)	M495L	probably benign	Het
Slc39a8	G	A	3: 135,563,325 (GRCm39)	V212I	probably benign	Het
Slc40a1	A	C	1: 45,950,129 (GRCm39)	V441G	probably benign	Het
Slc7a11	A	T	3: 50,378,501 (GRCm39)	Y246N	probably damaging	Het
Spata9	T	C	13: 76,125,892 (GRCm39)	V125A	probably benign	Het
Svopl	T	A	6: 37,991,741 (GRCm39)	M380L	probably benign	Het
Sycp2l	T	C	13: 41,271,544 (GRCm39)	Y23H	probably damaging	Het
Syt11	A	T	3: 88,669,427 (GRCm39)	V155E	probably benign	Het
Syt5	T	C	7: 4,545,822 (GRCm39)	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,846,277 (GRCm39)	T6A	probably benign	Het
Tlr2	A	G	3: 83,745,546 (GRCm39)	L179P	probably damaging	Het
Tsn	A	T	1: 118,232,984 (GRCm39)	Y107N	probably damaging	Het
Tspan32	A	T	7: 142,564,832 (GRCm39)	Y114F	probably benign	Het
Tube1	A	C	10: 39,023,375 (GRCm39)	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,466,214 (GRCm39)	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,820,910 (GRCm39)	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,683,465 (GRCm39)	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,857,342 (GRCm39)	F546L	probably damaging	Het
Yy1	A	G	12: 108,759,619 (GRCm39)	D94G	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421 (GRCm39)	T9A	unknown	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
R8217: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'- AGTTATCATCACAGCTTGGAAGAC -3'
(R):5'- TTTGGGCGTCTTCATAGTCATC -3'

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

Posted On

2020-07-13