Mutagenetix > Incidental Mutation

Incidental Mutation 'R6765:Or8k27'

531845

Institutional Source

Beutler Lab

Gene Symbol

Or8k27

Ensembl Gene

ENSMUSG00000111306

Gene Name

olfactory receptor family 8 subfamily K member 27

Synonyms

Olfr1065, GA_x6K02T2Q125-47915274-47914333, MOR190-1

MMRRC Submission

044881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86275357-86276348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86275580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 249 (T249A)

Ref Sequence

ENSEMBL: ENSMUSP00000149248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213789] [ENSMUST00000216162] [ENSMUST00000216165] [ENSMUST00000217586]

AlphaFold

Q7TR70

Predicted Effect

probably benign
Transcript: ENSMUST00000213789
AA Change: T249A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216162
AA Change: T249A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216165
AA Change: T249A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000217586
AA Change: T249A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	C	A	7: 82,216,232 (GRCm39)	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,334,203 (GRCm39)	F336V	possibly damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aoc1	A	G	6: 48,882,871 (GRCm39)	N249S	probably benign	Het
Ap1b1	T	A	11: 4,969,427 (GRCm39)	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,599,017 (GRCm39)	D530E	probably benign	Het
Arid4b	T	A	13: 14,361,900 (GRCm39)	M788K	possibly damaging	Het
Atp2c2	A	T	8: 120,479,756 (GRCm39)	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,418,136 (GRCm39)	R134L	probably damaging	Het
Cacna2d3	T	C	14: 28,777,934 (GRCm39)	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,940 (GRCm39)	M95I	probably benign	Het
Cdk12	T	A	11: 98,115,355 (GRCm39)	I832N	unknown	Het
Clcn2	A	C	16: 20,526,418 (GRCm39)		probably null	Het
Csrnp2	C	T	15: 100,380,574 (GRCm39)	R239Q	probably damaging	Het
Dhrs13	T	A	11: 77,927,965 (GRCm39)	D270E	probably benign	Het
Dlgap2	G	A	8: 14,793,284 (GRCm39)	G426D	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fam120a	A	G	13: 49,045,440 (GRCm39)	Y799H	probably damaging	Het
Farp1	G	A	14: 121,460,066 (GRCm39)	V112I	probably benign	Het
Fhip2a	A	G	19: 57,367,177 (GRCm39)	D240G	probably benign	Het
Fsip2	A	G	2: 82,816,776 (GRCm39)	I4170V	probably benign	Het
Gm12185	A	G	11: 48,806,531 (GRCm39)	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,094,860 (GRCm39)	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,860,227 (GRCm39)	R7*	probably null	Het
Itih3	C	T	14: 30,631,430 (GRCm39)	G822D	probably benign	Het
Kcnu1	A	T	8: 26,403,673 (GRCm39)	D728V	probably damaging	Het
Khdc4	G	T	3: 88,593,736 (GRCm39)	G42W	probably damaging	Het
Lnpep	G	A	17: 17,750,758 (GRCm39)	T976I	probably damaging	Het
Map1b	A	C	13: 99,562,449 (GRCm39)	H2420Q	unknown	Het
Mc1r	A	G	8: 124,134,435 (GRCm39)	K63E	probably damaging	Het
Mpped1	G	A	15: 83,720,584 (GRCm39)	V15M	probably damaging	Het
Ncor1	T	C	11: 62,264,272 (GRCm39)	T103A	probably benign	Het
Nhsl1	A	T	10: 18,407,062 (GRCm39)	T1399S	probably benign	Het
Nlrc5	C	T	8: 95,216,996 (GRCm39)	T995M	probably benign	Het
Nrbp1	G	A	5: 31,403,190 (GRCm39)		probably null	Het
Or10g9	A	C	9: 39,912,493 (GRCm39)	F10C	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Pcdhb13	T	C	18: 37,576,663 (GRCm39)	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,128,563 (GRCm39)	T4047A	probably benign	Het
Prrt2	T	A	7: 126,618,769 (GRCm39)	D232V	probably damaging	Het
Psmd5	A	C	2: 34,746,545 (GRCm39)	M344R	probably benign	Het
Pwp1	G	A	10: 85,720,397 (GRCm39)	E345K	probably damaging	Het
Qsox1	A	G	1: 155,666,851 (GRCm39)	Y213H	probably benign	Het
Rmc1	A	G	18: 12,309,203 (GRCm39)	N92D	possibly damaging	Het
Sclt1	T	C	3: 41,685,337 (GRCm39)	R39G	unknown	Het
Syne1	A	T	10: 5,093,285 (GRCm39)		probably null	Het
Tmem163	G	T	1: 127,479,078 (GRCm39)	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,601,557 (GRCm39)	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,039,790 (GRCm39)	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,855,129 (GRCm39)	D1929E	probably damaging	Het
Upb1	A	T	10: 75,273,978 (GRCm39)	D335V	probably damaging	Het
Vps26b	T	C	9: 26,924,104 (GRCm39)	E213G	probably damaging	Het
Vwc2	C	T	11: 11,104,215 (GRCm39)	T249I	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zan	A	G	5: 137,391,409 (GRCm39)	C4692R	unknown	Het
Zfp106	T	C	2: 120,369,935 (GRCm39)	E29G	probably damaging	Het
Zfp551	G	A	7: 12,150,767 (GRCm39)	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,622,363 (GRCm39)	H429Q	probably benign	Het

Other mutations in Or8k27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03133:Or8k27	APN	2	86,276,002 (GRCm39)	missense	probably damaging	0.99
IGL03173:Or8k27	APN	2	86,275,788 (GRCm39)	nonsense	probably null
IGL03257:Or8k27	APN	2	86,276,234 (GRCm39)	missense	probably damaging	0.98
D4043:Or8k27	UTSW	2	86,275,564 (GRCm39)	missense	probably damaging	0.99
R0265:Or8k27	UTSW	2	86,276,303 (GRCm39)	missense	probably benign	0.00
R0550:Or8k27	UTSW	2	86,276,220 (GRCm39)	nonsense	probably null
R0633:Or8k27	UTSW	2	86,275,473 (GRCm39)	missense	probably benign	0.45
R0727:Or8k27	UTSW	2	86,276,282 (GRCm39)	missense	probably benign	0.00
R1017:Or8k27	UTSW	2	86,275,772 (GRCm39)	missense	probably benign	0.13
R1416:Or8k27	UTSW	2	86,275,664 (GRCm39)	missense	probably benign	0.43
R1657:Or8k27	UTSW	2	86,275,562 (GRCm39)	missense	probably damaging	1.00
R1983:Or8k27	UTSW	2	86,275,420 (GRCm39)	missense	probably benign	0.01
R3919:Or8k27	UTSW	2	86,275,762 (GRCm39)	missense	probably benign	0.01
R4345:Or8k27	UTSW	2	86,276,189 (GRCm39)	missense	probably damaging	1.00
R5382:Or8k27	UTSW	2	86,275,660 (GRCm39)	missense	probably damaging	0.99
R5757:Or8k27	UTSW	2	86,275,922 (GRCm39)	missense	probably benign	0.22
R6530:Or8k27	UTSW	2	86,275,826 (GRCm39)	missense	probably benign	0.31
R6856:Or8k27	UTSW	2	86,276,251 (GRCm39)	missense	probably benign	0.04
R7156:Or8k27	UTSW	2	86,275,652 (GRCm39)	missense	probably damaging	1.00
R8239:Or8k27	UTSW	2	86,275,473 (GRCm39)	missense	noncoding transcript
R8338:Or8k27	UTSW	2	86,275,729 (GRCm39)	missense	probably benign	0.00
R8909:Or8k27	UTSW	2	86,276,082 (GRCm39)	missense	possibly damaging	0.80
R9469:Or8k27	UTSW	2	86,275,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCCCTGTCCTATGAAGAGC -3'
(R):5'- CATCAGTCATTTCTACTGTGACAG -3'

Sequencing Primer
(F):5'- CTGTCCTATGAAGAGCATCTTTTAC -3'
(R):5'- CTTTGGTCTGCTCAAATACACAAG -3'

Posted On

2018-08-29