Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Or8k16'

283905

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: 0.070) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

85519775-85520716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85520472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 233 (G233D)

Ref Sequence

ENSEMBL: ENSMUSP00000061191 (fasta)

Gene Model

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

AlphaFold

Q8VGC7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054868
AA Change: G233D

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061191
Gene: ENSMUSG00000050603
AA Change: G233D

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	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
IGL02560:Or8k16	APN	2	85,519,863 (GRCm39)	missense	possibly damaging	0.79
IGL02726:Or8k16	APN	2	85,520,554 (GRCm39)	missense	possibly damaging	0.94
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