Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Or8k27'

535236

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

044958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86275357-86276348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86276251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 25 (S25Y)

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: S25Y

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000216162
AA Change: S25Y

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000216165
AA Change: S25Y

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000217586
AA Change: S25Y

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	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
R6765:Or8k27	UTSW	2	86,275,580 (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'- ACATTTTGGGTCCCACAGTTG -3'
(R):5'- AGGAGCAAGTGTGTTATACATGTG -3'

Sequencing Primer
(F):5'- GGGTCCCACAGTTGTTGAATAACC -3'
(R):5'- TTAGAACAGGCTGTCTCAT -3'

Posted On

2018-09-12