Mutagenetix > Incidental Mutation

Incidental Mutation 'R7067:Or8k21'

548607

Institutional Source

Beutler Lab

Gene Symbol

Or8k21

Ensembl Gene

ENSMUSG00000075192

Gene Name

olfactory receptor family 8 subfamily K member 21

Synonyms

GA_x6K02T2Q125-47793414-47792471, MOR187-4, Olfr1053-ps1, Olfr1053

MMRRC Submission

045163-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7067 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86144687-86145628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86144911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 240 (T240S)

Ref Sequence

ENSEMBL: ENSMUSP00000097481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099897]

AlphaFold

L7MU59

Predicted Effect

probably damaging
Transcript: ENSMUST00000099897
AA Change: T240S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097481
Gene: ENSMUSG00000075192
AA Change: T240S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1e-45	PFAM
Pfam:7tm_1	41	290	1.2e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,852,921 (GRCm39)	S72C	probably damaging	Het
Abca13	A	G	11: 9,241,845 (GRCm39)	D1236G	probably benign	Het
Abcc6	T	C	7: 45,668,114 (GRCm39)	N165D	probably benign	Het
Aebp1	A	G	11: 5,816,431 (GRCm39)		probably null	Het
Afg2a	C	T	3: 37,485,847 (GRCm39)	Q190*	probably null	Het
Anapc4	A	G	5: 53,019,577 (GRCm39)	T580A	probably benign	Het
Apob	T	C	12: 8,059,423 (GRCm39)	I2602T	probably damaging	Het
Arap2	A	G	5: 62,811,387 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,968,673 (GRCm39)		probably null	Het
Bend4	A	G	5: 67,557,611 (GRCm39)	Y402H	probably damaging	Het
Ccn2	A	G	10: 24,472,873 (GRCm39)	Y261C	probably benign	Het
Crtc2	A	G	3: 90,167,489 (GRCm39)	N271S	probably benign	Het
Csf2rb2	A	T	15: 78,176,694 (GRCm39)	W233R	probably damaging	Het
Cyp2u1	G	A	3: 131,087,202 (GRCm39)	L460F	probably damaging	Het
Dnm3	A	G	1: 162,148,540 (GRCm39)	L277P	probably damaging	Het
Efemp1	A	T	11: 28,817,926 (GRCm39)	N135I	probably damaging	Het
Elapor2	G	T	5: 9,316,295 (GRCm39)	A9S	possibly damaging	Het
Fsip2	T	A	2: 82,811,078 (GRCm39)	S2466T	possibly damaging	Het
Gal3st2	C	T	1: 93,802,447 (GRCm39)	A276V	possibly damaging	Het
Gm47985	A	T	1: 151,059,241 (GRCm39)	D294V	unknown	Het
Golga1	A	T	2: 38,937,731 (GRCm39)	D104E	probably benign	Het
Hnrnpr	C	T	4: 136,054,704 (GRCm39)	A219V	probably damaging	Het
Hsd3b7	T	C	7: 127,399,888 (GRCm39)		probably null	Het
Hspa8	T	C	9: 40,715,921 (GRCm39)	I562T	probably damaging	Het
Htra4	C	T	8: 25,523,717 (GRCm39)	V283M	probably damaging	Het
Il36rn	C	T	2: 24,167,541 (GRCm39)	R11*	probably null	Het
Iqcd	A	G	5: 120,743,212 (GRCm39)	T325A	probably damaging	Het
Kif23	A	T	9: 61,832,271 (GRCm39)	M624K	probably benign	Het
Krt25	G	T	11: 99,208,209 (GRCm39)	Q340K	probably benign	Het
Lamp3	T	A	16: 19,518,413 (GRCm39)	N275Y	probably damaging	Het
Lpin2	A	C	17: 71,551,853 (GRCm39)	K789T	possibly damaging	Het
Mroh2b	T	C	15: 4,929,986 (GRCm39)	I24T	probably benign	Het
Muc16	T	A	9: 18,569,547 (GRCm39)	I991F	unknown	Het
Ntf5	T	A	7: 45,065,048 (GRCm39)	L60Q	probably damaging	Het
Nuak1	A	G	10: 84,276,158 (GRCm39)	S22P	possibly damaging	Het
Obox8	T	C	7: 14,066,979 (GRCm39)	T22A	possibly damaging	Het
Pde8a	T	C	7: 80,967,074 (GRCm39)	V405A	probably benign	Het
Phc2	T	C	4: 128,640,934 (GRCm39)	S147P	probably benign	Het
Pole	G	T	5: 110,482,084 (GRCm39)	G142V	probably damaging	Het
Poli	G	A	18: 70,642,488 (GRCm39)	Q508*	probably null	Het
Repin1	T	A	6: 48,574,850 (GRCm39)	L537*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Slc30a2	T	A	4: 134,071,529 (GRCm39)		probably null	Het
Slit3	A	G	11: 35,399,057 (GRCm39)	S141G	probably benign	Het
Spon2	A	G	5: 33,371,958 (GRCm39)	S283P	probably damaging	Het
Srgap3	A	T	6: 112,734,266 (GRCm39)		probably benign	Het
Syde2	A	G	3: 145,694,019 (GRCm39)	D89G	probably benign	Het
Syne1	A	G	10: 5,184,586 (GRCm39)	I4099T	probably damaging	Het
Syt5	T	C	7: 4,546,075 (GRCm39)	D105G	probably benign	Het
Tlx3	C	T	11: 33,153,204 (GRCm39)	G86S	probably damaging	Het
Trim24	A	T	6: 37,934,775 (GRCm39)		probably null	Het
Umodl1	G	A	17: 31,201,246 (GRCm39)	V392I	probably damaging	Het
Unc80	C	A	1: 66,685,731 (GRCm39)	T2285K	possibly damaging	Het
Vars1	G	A	17: 35,230,455 (GRCm39)	V513I	probably damaging	Het
Vmn1r87	T	A	7: 12,865,849 (GRCm39)	Q146L	probably benign	Het
Vmn2r62	T	C	7: 42,414,302 (GRCm39)	I714V	probably benign	Het
Xbp1	T	A	11: 5,474,275 (GRCm39)	S159T	probably damaging	Het
Xrn1	T	A	9: 95,851,565 (GRCm39)	H194Q	probably damaging	Het
Zc3h4	A	T	7: 16,162,976 (GRCm39)	K459*	probably null	Het
Zdhhc6	G	A	19: 55,292,871 (GRCm39)	R292*	probably null	Het
Zfp383	T	A	7: 29,608,071 (GRCm39)	M1K	probably null	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	probably damaging	Het

Other mutations in Or8k21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Or8k21	APN	2	86,145,288 (GRCm39)	missense	probably damaging	1.00
IGL02063:Or8k21	APN	2	86,145,137 (GRCm39)	missense	possibly damaging	0.50
IGL02503:Or8k21	APN	2	86,144,983 (GRCm39)	missense	possibly damaging	0.71
IGL03342:Or8k21	APN	2	86,145,579 (GRCm39)	missense	possibly damaging	0.85
PIT4520001:Or8k21	UTSW	2	86,145,142 (GRCm39)	missense	possibly damaging	0.78
R0562:Or8k21	UTSW	2	86,144,869 (GRCm39)	missense	probably benign	0.00
R1026:Or8k21	UTSW	2	86,145,558 (GRCm39)	missense	possibly damaging	0.80
R1134:Or8k21	UTSW	2	86,145,525 (GRCm39)	missense	probably damaging	1.00
R1200:Or8k21	UTSW	2	86,145,477 (GRCm39)	missense	probably damaging	0.99
R1566:Or8k21	UTSW	2	86,145,129 (GRCm39)	missense	probably benign	0.01
R1588:Or8k21	UTSW	2	86,144,874 (GRCm39)	missense	probably damaging	1.00
R1747:Or8k21	UTSW	2	86,145,211 (GRCm39)	missense	probably benign	0.00
R1951:Or8k21	UTSW	2	86,145,504 (GRCm39)	missense	probably damaging	1.00
R1975:Or8k21	UTSW	2	86,145,498 (GRCm39)	missense	probably damaging	0.99
R2291:Or8k21	UTSW	2	86,145,524 (GRCm39)	nonsense	probably null
R2425:Or8k21	UTSW	2	86,144,739 (GRCm39)	missense	probably damaging	0.98
R5092:Or8k21	UTSW	2	86,144,706 (GRCm39)	missense	probably benign	0.00
R5651:Or8k21	UTSW	2	86,144,784 (GRCm39)	missense	probably benign	0.23
R5733:Or8k21	UTSW	2	86,145,558 (GRCm39)	missense	probably damaging	0.98
R5767:Or8k21	UTSW	2	86,144,742 (GRCm39)	missense	probably damaging	1.00
R6307:Or8k21	UTSW	2	86,145,468 (GRCm39)	missense	probably benign
R6720:Or8k21	UTSW	2	86,145,409 (GRCm39)	missense	probably damaging	0.99
R7289:Or8k21	UTSW	2	86,145,369 (GRCm39)	missense	probably benign	0.00
R7604:Or8k21	UTSW	2	86,145,244 (GRCm39)	missense	probably damaging	1.00
R7773:Or8k21	UTSW	2	86,145,034 (GRCm39)	missense	probably benign	0.01
R8345:Or8k21	UTSW	2	86,145,451 (GRCm39)	missense	probably damaging	1.00
R9246:Or8k21	UTSW	2	86,145,222 (GRCm39)	missense	probably damaging	0.99
R9454:Or8k21	UTSW	2	86,145,178 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCCTTTAGTACCCTGTAGAAG -3'
(R):5'- TCATCAGTCATTTCTACTGTGATGG -3'

Sequencing Primer
(F):5'- CCCTGTAGAAGGCATTTTTAACC -3'
(R):5'- ACTGTGATGGTATTTTCTTGTTACC -3'

Posted On

2019-05-13