Mutagenetix > Incidental Mutation

Incidental Mutation 'R6210:Or8k23'

503385

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

044344-MU

Accession Numbers

Essential gene?

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

Stock #

R6210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86185703-86186781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86186702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000149545 (fasta)

Gene Model

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

AlphaFold

A2AVY0

Predicted Effect

probably benign
Transcript: ENSMUST00000099893
AA Change: V8A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097478
Gene: ENSMUSG00000075188
AA Change: V8A

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 benign
Transcript: ENSMUST00000216547
AA Change: V8A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,706,032 (GRCm39)	I94F	probably damaging	Het
Bbox1	A	T	2: 110,100,422 (GRCm39)	D258E	probably benign	Het
Catsperb	A	G	12: 101,378,827 (GRCm39)		probably null	Het
Ccdc127	T	C	13: 74,505,040 (GRCm39)	V196A	probably benign	Het
Cd101	A	T	3: 100,925,959 (GRCm39)	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,407,214 (GRCm39)	Y101C	probably damaging	Het
Cep135	C	T	5: 76,772,570 (GRCm39)	L652F	probably benign	Het
Col5a1	G	T	2: 27,922,633 (GRCm39)	V234L	probably benign	Het
Cxcr6	T	C	9: 123,639,073 (GRCm39)	S25P	possibly damaging	Het
Dctn4	C	T	18: 60,679,865 (GRCm39)	Q258*	probably null	Het
Fmnl2	A	T	2: 53,020,457 (GRCm39)	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,672,080 (GRCm39)	K59N	probably benign	Het
Gpr157	T	C	4: 150,186,055 (GRCm39)	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,001,860 (GRCm39)	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,210,169 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,933,838 (GRCm39)	N805K	probably damaging	Het
Ilrun	A	T	17: 27,986,960 (GRCm39)	D255E	probably benign	Het
Itga3	T	C	11: 94,959,717 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,664,351 (GRCm39)		probably null	Het
Kcnip1	G	A	11: 33,595,600 (GRCm39)	T30I	possibly damaging	Het
Lig4	T	C	8: 10,021,585 (GRCm39)	T732A	probably benign	Het
Lmod3	T	A	6: 97,224,262 (GRCm39)	T520S	probably damaging	Het
Megf8	G	A	7: 25,043,145 (GRCm39)	V1356I	possibly damaging	Het
Mical3	C	T	6: 121,017,478 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,573,535 (GRCm39)	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,927,276 (GRCm39)		noncoding transcript	Het
Myo1f	T	A	17: 33,820,044 (GRCm39)	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,619,509 (GRCm39)	I462S	probably damaging	Het
Or2t48	C	T	11: 58,420,090 (GRCm39)	A241T	probably damaging	Het
Pah	C	A	10: 87,419,423 (GRCm39)	Q449K	probably benign	Het
Pced1a	A	G	2: 130,263,839 (GRCm39)	V271A	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Psg21	A	G	7: 18,386,270 (GRCm39)	Y239H	probably damaging	Het
Ptprt	T	C	2: 162,109,949 (GRCm39)	Y180C	probably damaging	Het
Raet1d	T	A	10: 22,246,849 (GRCm39)	I59N	probably damaging	Het
Rfx1	T	C	8: 84,819,647 (GRCm39)	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,493,131 (GRCm39)	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Serbp1	T	C	6: 67,249,851 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,082,629 (GRCm39)	H649Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,731 (GRCm39)	D719E	probably benign	Het
Ttc21b	A	T	2: 66,066,698 (GRCm39)	S318R	probably benign	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,039,806 (GRCm39)	Q187R	probably damaging	Het
Ung	C	T	5: 114,269,438 (GRCm39)	A50V	probably benign	Het
Upk3bl	C	T	5: 136,088,674 (GRCm39)	Q103*	probably null	Het
Usp17le	C	A	7: 104,418,350 (GRCm39)	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,448,758 (GRCm39)	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,222,114 (GRCm39)	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp748	G	A	13: 67,688,923 (GRCm39)	P779L	possibly 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
R5085:Or8k23	UTSW	2	86,186,318 (GRCm39)	missense	probably damaging	1.00
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'- TCCCACAGCTGTTGAATACC -3'
(R):5'- AGTGTTCAGTACGCAGATGAATC -3'

Sequencing Primer
(F):5'- CAGCTGTTGAATACCCAAAATCAATG -3'
(R):5'- GATTCTCTTACACAATGTGACTT -3'

Posted On

2018-02-27