Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02726:Or8k16'

305219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8k16

Ensembl Gene

ENSMUSG00000050603

Gene Name

olfactory receptor family 8 subfamily K member 16

Synonyms

Olfr1008, GA_x6K02T2Q125-47170431-47171372, MOR187-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02726

Quality Score

Status

Chromosome

Chromosomal Location

85519775-85520716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85520554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 260 (L260F)

Ref Sequence

ENSEMBL: ENSMUSP00000061191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054868]

AlphaFold

Q8VGC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054868
AA Change: L260F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061191
Gene: ENSMUSG00000050603
AA Change: L260F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-46	PFAM
Pfam:7tm_1	41	290	2.4e-14	PFAM

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	T	2: 128,501,705 (GRCm39)	M779K	probably benign	Het
Art1	G	A	7: 101,759,955 (GRCm39)	V85M	probably damaging	Het
Atad2b	G	T	12: 5,024,003 (GRCm39)	E43*	probably null	Het
Clec4a4	A	T	6: 122,967,338 (GRCm39)	I5F	probably damaging	Het
Cr1l	A	T	1: 194,812,188 (GRCm39)	I45N	probably damaging	Het
Dmbt1	T	A	7: 130,676,140 (GRCm39)		probably benign	Het
Dnajb3	A	T	1: 88,133,372 (GRCm39)	V10E	probably damaging	Het
Dnajc22	A	T	15: 98,998,881 (GRCm39)	H22L	probably damaging	Het
Dnal4	A	G	15: 79,647,745 (GRCm39)	V40A	probably damaging	Het
Dsg1b	G	A	18: 20,532,542 (GRCm39)	V529I	probably benign	Het
Elp1	T	A	4: 56,767,878 (GRCm39)		probably null	Het
Fam131c	T	A	4: 141,110,113 (GRCm39)	D170E	probably benign	Het
Got1	G	A	19: 43,488,851 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,349,270 (GRCm39)	V2043E	probably benign	Het
Hmcn1	A	T	1: 150,532,445 (GRCm39)	Y3147*	probably null	Het
Ifi44	T	C	3: 151,455,233 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Ino80	A	T	2: 119,272,964 (GRCm39)	I504N	probably damaging	Het
Itpr2	A	G	6: 146,277,419 (GRCm39)	I655T	probably benign	Het
Kcnk4	A	G	19: 6,904,457 (GRCm39)		probably null	Het
Mrgprb2	T	A	7: 48,202,618 (GRCm39)	R36W	probably damaging	Het
Mslnl	T	C	17: 25,963,077 (GRCm39)		probably null	Het
Or10ak14	T	A	4: 118,610,961 (GRCm39)	Y260F	probably benign	Het
Or1e33	T	C	11: 73,738,691 (GRCm39)	S87G	probably benign	Het
Or2ag1b	A	C	7: 106,288,577 (GRCm39)	Y120*	probably null	Het
Pcnx4	G	T	12: 72,620,986 (GRCm39)	M935I	probably benign	Het
Pdgfra	C	T	5: 75,355,618 (GRCm39)	Q1043*	probably null	Het
Pf4	T	C	5: 90,920,523 (GRCm39)	V28A	probably benign	Het
Piezo1	A	G	8: 123,213,894 (GRCm39)	L1689P	probably damaging	Het
Ppa2	A	G	3: 133,076,222 (GRCm39)	S284G	possibly damaging	Het
Pramel22	G	T	4: 143,381,955 (GRCm39)	P247H	probably damaging	Het
Psd2	T	C	18: 36,120,355 (GRCm39)		probably null	Het
Rbm25	G	T	12: 83,719,626 (GRCm39)	G549W	probably damaging	Het
Ryr2	T	C	13: 11,753,206 (GRCm39)	D1705G	probably damaging	Het
Shf	A	T	2: 122,189,969 (GRCm39)	D96E	probably damaging	Het
Slc1a1	G	A	19: 28,889,169 (GRCm39)	V481M	probably benign	Het
Slc4a9	T	C	18: 36,672,670 (GRCm39)	V807A	probably benign	Het
Syne2	T	A	12: 76,062,356 (GRCm39)	I4226N	probably damaging	Het
Tex56	A	G	13: 35,136,943 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,573,576 (GRCm39)	V254E	possibly damaging	Het
Ubr2	A	C	17: 47,283,847 (GRCm39)	Y601D	probably damaging	Het
Ubr5	A	C	15: 38,000,806 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,854 (GRCm39)	I50K	possibly damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Or8k16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Or8k16	APN	2	85,520,007 (GRCm39)	missense	probably benign	0.01
IGL02192:Or8k16	APN	2	85,520,472 (GRCm39)	missense	possibly damaging	0.80
IGL02560:Or8k16	APN	2	85,519,863 (GRCm39)	missense	possibly damaging	0.79
IGL02756:Or8k16	APN	2	85,520,402 (GRCm39)	missense	probably damaging	0.99
R0463:Or8k16	UTSW	2	85,520,183 (GRCm39)	missense	possibly damaging	0.94
R0961:Or8k16	UTSW	2	85,519,790 (GRCm39)	missense	probably benign	0.00
R0964:Or8k16	UTSW	2	85,520,709 (GRCm39)	missense	probably benign
R1259:Or8k16	UTSW	2	85,519,875 (GRCm39)	missense	probably damaging	0.98
R1756:Or8k16	UTSW	2	85,520,427 (GRCm39)	missense	probably damaging	1.00
R1871:Or8k16	UTSW	2	85,520,655 (GRCm39)	missense	probably damaging	1.00
R1882:Or8k16	UTSW	2	85,519,950 (GRCm39)	missense	probably damaging	1.00
R6573:Or8k16	UTSW	2	85,520,343 (GRCm39)	missense	probably damaging	0.99
R6640:Or8k16	UTSW	2	85,520,279 (GRCm39)	missense	probably damaging	1.00
R6746:Or8k16	UTSW	2	85,519,952 (GRCm39)	missense	probably damaging	1.00
R7045:Or8k16	UTSW	2	85,520,255 (GRCm39)	missense	possibly damaging	0.49
R7347:Or8k16	UTSW	2	85,520,181 (GRCm39)	missense	probably damaging	0.99
R7875:Or8k16	UTSW	2	85,519,838 (GRCm39)	missense	probably benign	0.14
R8030:Or8k16	UTSW	2	85,520,063 (GRCm39)	missense	probably damaging	1.00
R9161:Or8k16	UTSW	2	85,520,231 (GRCm39)	missense	probably benign	0.01
R9193:Or8k16	UTSW	2	85,520,644 (GRCm39)	nonsense	probably null
R9399:Or8k16	UTSW	2	85,520,395 (GRCm39)	missense	probably damaging	0.97
R9460:Or8k16	UTSW	2	85,520,359 (GRCm39)	missense	probably benign	0.02
R9467:Or8k16	UTSW	2	85,520,626 (GRCm39)	missense
R9685:Or8k16	UTSW	2	85,519,866 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8k16	UTSW	2	85,520,024 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16