Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Or8k23'

387350

Institutional Source

Beutler Lab

Gene Symbol

Or8k23

Ensembl Gene

ENSMUSG00000075188

Gene Name

olfactory receptor family 8 subfamily K member 23

Synonyms

MOR186-2, Olfr1056, GA_x6K02T2Q125-47827833-47826892

MMRRC Submission

042674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86185703-86186781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86186318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 136 (M136K)

Ref Sequence

ENSEMBL: ENSMUSP00000149545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099893] [ENSMUST00000216547]

AlphaFold

A2AVY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000099893
AA Change: M136K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097478
Gene: ENSMUSG00000075188
AA Change: M136K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.6e-47	PFAM
Pfam:7tm_1	41	290	7.8e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216547
AA Change: M136K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.3616

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

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
4930562C15Rik	A	T	16: 4,653,837 (GRCm39)	K129*	probably null	Het
Adamts6	A	T	13: 104,443,751 (GRCm39)	D162V	probably damaging	Het
Alms1	C	A	6: 85,597,714 (GRCm39)	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,722,664 (GRCm39)	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,464,096 (GRCm39)	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,313 (GRCm39)	N944K	probably damaging	Het
Clcn1	C	T	6: 42,290,814 (GRCm39)	T896I	probably benign	Het
Col16a1	A	T	4: 129,947,964 (GRCm39)	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,548,083 (GRCm39)	D561G	probably benign	Het
Ddr1	T	A	17: 35,993,667 (GRCm39)		probably null	Het
Dedd2	A	T	7: 24,918,411 (GRCm39)	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dph3b-ps	A	G	13: 106,683,558 (GRCm39)		noncoding transcript	Het
Dppa3	T	C	6: 122,606,891 (GRCm39)	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943 (GRCm39)		probably null	Het
Flrt3	T	C	2: 140,502,177 (GRCm39)	T484A	probably damaging	Het
Gldc	T	C	19: 30,128,936 (GRCm39)	E179G	probably damaging	Het
Gm14403	A	G	2: 177,200,282 (GRCm39)	E76G	probably benign	Het
Gm6421	G	A	13: 117,494,969 (GRCm39)		noncoding transcript	Het
Grk5	T	C	19: 61,065,122 (GRCm39)	V262A	probably damaging	Het
Grp	A	G	18: 66,013,230 (GRCm39)	Q132R	probably benign	Het
Hap1	A	G	11: 100,246,537 (GRCm39)	F123L	probably damaging	Het
Hrc	A	G	7: 44,986,445 (GRCm39)	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,228,733 (GRCm39)	F164L	probably benign	Het
Irag1	G	T	7: 110,470,700 (GRCm39)	L672I	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl1	C	T	11: 104,315,168 (GRCm39)	R290Q	probably damaging	Het
Kifc2	T	A	15: 76,545,496 (GRCm39)	L81Q	probably damaging	Het
Klrc3	T	C	6: 129,616,538 (GRCm39)	R160G	probably damaging	Het
Mal	A	G	2: 127,482,193 (GRCm39)	M70T	probably benign	Het
Mep1a	T	G	17: 43,789,035 (GRCm39)	R580S	probably damaging	Het
Methig1	A	T	15: 100,251,130 (GRCm39)	I14F	probably damaging	Het
Mtf1	T	C	4: 124,715,101 (GRCm39)	L242P	probably damaging	Het
Nfkb1	C	A	3: 135,309,568 (GRCm39)	A509S	probably benign	Het
Or2h2b-ps1	C	G	17: 37,480,858 (GRCm39)	S227T	probably benign	Het
Or2n1b	G	A	17: 38,460,003 (GRCm39)	D175N	probably damaging	Het
Or5ac24	A	T	16: 59,165,449 (GRCm39)	I205K	probably damaging	Het
Or7a36	G	T	10: 78,819,928 (GRCm39)	M101I	probably benign	Het
Pabpc2	A	T	18: 39,907,635 (GRCm39)	N300I	probably damaging	Het
Peg10	C	T	6: 4,755,864 (GRCm39)		probably benign	Het
Ppp1r3a	T	A	6: 14,719,603 (GRCm39)	D437V	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Prkab2	T	C	3: 97,580,308 (GRCm39)		probably benign	Het
Pus3	T	A	9: 35,476,932 (GRCm39)	L243Q	possibly damaging	Het
Relch	A	G	1: 105,605,905 (GRCm39)	S182G	probably damaging	Het
Rgs19	G	A	2: 181,331,336 (GRCm39)	T99M	possibly damaging	Het
Ripk2	A	G	4: 16,127,663 (GRCm39)	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210 (GRCm39)	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,469,947 (GRCm39)	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Skint6	T	A	4: 113,093,465 (GRCm39)	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,839,872 (GRCm39)	M137V	probably benign	Het
Supv3l1	A	T	10: 62,271,291 (GRCm39)	N415K	probably benign	Het
Tekt4	A	G	17: 25,692,749 (GRCm39)	R192G	probably damaging	Het
Trgv7	A	T	13: 19,362,598 (GRCm39)	K96*	probably null	Het
Tshz1	T	C	18: 84,032,053 (GRCm39)	N785S	probably benign	Het
Usb1	A	G	8: 96,070,679 (GRCm39)	T202A	probably damaging	Het
Utp18	A	T	11: 93,761,363 (GRCm39)	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,821,598 (GRCm39)	I324L	probably benign	Het
Wnt8a	A	T	18: 34,678,656 (GRCm39)	R157*	probably null	Het
Ypel1	A	G	16: 16,902,472 (GRCm39)		probably null	Het
Zfp235	A	G	7: 23,836,546 (GRCm39)	K31E	probably damaging	Het
Zhx2	G	C	15: 57,686,089 (GRCm39)	W486S	probably damaging	Het

Other mutations in Or8k23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Or8k23	APN	2	86,186,477 (GRCm39)	missense	possibly damaging	0.89
R0525:Or8k23	UTSW	2	86,186,619 (GRCm39)	missense	probably benign	0.00
R0544:Or8k23	UTSW	2	86,186,007 (GRCm39)	missense	probably damaging	1.00
R1124:Or8k23	UTSW	2	86,186,239 (GRCm39)	missense	probably damaging	1.00
R2011:Or8k23	UTSW	2	86,186,530 (GRCm39)	missense	possibly damaging	0.70
R2395:Or8k23	UTSW	2	86,186,609 (GRCm39)	missense	probably benign	0.01
R2508:Or8k23	UTSW	2	86,186,708 (GRCm39)	missense	possibly damaging	0.89
R3609:Or8k23	UTSW	2	86,185,826 (GRCm39)	missense	probably damaging	0.96
R3923:Or8k23	UTSW	2	86,186,205 (GRCm39)	missense	probably benign	0.22
R4531:Or8k23	UTSW	2	86,186,318 (GRCm39)	missense	probably damaging	1.00
R4836:Or8k23	UTSW	2	86,186,094 (GRCm39)	missense	probably benign	0.39
R6210:Or8k23	UTSW	2	86,186,702 (GRCm39)	missense	probably benign	0.00
R7265:Or8k23	UTSW	2	86,186,088 (GRCm39)	missense	probably benign	0.00
R8059:Or8k23	UTSW	2	86,186,306 (GRCm39)	missense	probably benign	0.01
R8286:Or8k23	UTSW	2	86,186,691 (GRCm39)	missense	probably damaging	1.00
R8460:Or8k23	UTSW	2	86,186,198 (GRCm39)	missense	probably damaging	1.00
R9643:Or8k23	UTSW	2	86,186,408 (GRCm39)	missense	probably benign	0.20
X0020:Or8k23	UTSW	2	86,186,118 (GRCm39)	missense	probably benign	0.09
Z1088:Or8k23	UTSW	2	86,186,237 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TGTGCCTGAACAGATCAAGG -3'
(R):5'- GATGAGAGGTTGCAAACACC -3'

Sequencing Primer
(F):5'- TGCCTGAACAGATCAAGGTCAGTAAG -3'
(R):5'- TATTCAACAGCTGTGGGACC -3'

Posted On

2016-06-06