Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Or8k39'

396554

Institutional Source

Beutler Lab

Gene Symbol

Or8k39

Ensembl Gene

ENSMUSG00000111711

Gene Name

olfactory receptor family 8 subfamily K member 39

Synonyms

Olfr1089, MOR193-1, GA_x6K02T2Q125-48226321-48225386

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86563019-86563954 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86563121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 278 (Y278*)

Ref Sequence

ENSEMBL: ENSMUSP00000149509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214317]

AlphaFold

A0A1L1SRK6

Predicted Effect

probably null
Transcript: ENSMUST00000099876
AA Change: Y278*

SMART Domains

Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: Y278*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	4.7e-47	PFAM
Pfam:7tm_1	41	290	2e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214317
AA Change: Y278*

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cdk1	A	T	10: 69,176,298 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,942,694 (GRCm39)	T412A	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,522,053 (GRCm39)	R845S	probably benign	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,371 (GRCm39)	Y289*	probably null	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,646,982 (GRCm39)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,071,636 (GRCm39)	S185R	probably benign	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	possibly damaging	Het

Other mutations in Or8k39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Or8k39	APN	2	86,563,579 (GRCm39)	missense	possibly damaging	0.90
IGL00944:Or8k39	APN	2	86,563,905 (GRCm39)	missense	possibly damaging	0.80
IGL01478:Or8k39	APN	2	86,563,673 (GRCm39)	nonsense	probably null
IGL01636:Or8k39	APN	2	86,563,945 (GRCm39)	nonsense	probably null
IGL01887:Or8k39	APN	2	86,563,030 (GRCm39)	missense	probably benign	0.03
IGL02008:Or8k39	APN	2	86,563,521 (GRCm39)	missense	possibly damaging	0.90
IGL02470:Or8k39	APN	2	86,563,929 (GRCm39)	missense	probably damaging	0.97
IGL02560:Or8k39	APN	2	86,563,578 (GRCm39)	missense	probably damaging	1.00
R1782:Or8k39	UTSW	2	86,563,026 (GRCm39)	missense	probably benign	0.03
R2234:Or8k39	UTSW	2	86,563,921 (GRCm39)	missense	possibly damaging	0.94
R2866:Or8k39	UTSW	2	86,563,773 (GRCm39)	missense	possibly damaging	0.95
R3027:Or8k39	UTSW	2	86,563,930 (GRCm39)	missense	possibly damaging	0.79
R4275:Or8k39	UTSW	2	86,563,936 (GRCm39)	missense	probably damaging	1.00
R4799:Or8k39	UTSW	2	86,563,018 (GRCm39)	splice site	probably null
R5016:Or8k39	UTSW	2	86,563,090 (GRCm39)	missense	probably benign	0.17
R5355:Or8k39	UTSW	2	86,563,680 (GRCm39)	missense	probably damaging	1.00
R5624:Or8k39	UTSW	2	86,563,149 (GRCm39)	missense	probably benign	0.45
R6265:Or8k39	UTSW	2	86,563,299 (GRCm39)	missense	probably damaging	0.99
R7382:Or8k39	UTSW	2	86,563,129 (GRCm39)	missense	probably benign	0.02
R8009:Or8k39	UTSW	2	86,563,848 (GRCm39)	missense	probably damaging	0.99
R8850:Or8k39	UTSW	2	86,563,302 (GRCm39)	missense	probably damaging	0.99
R9652:Or8k39	UTSW	2	86,563,636 (GRCm39)	missense	probably damaging	1.00
X0028:Or8k39	UTSW	2	86,563,092 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCTGGAAAGCCTCATGC -3'
(R):5'- TCCTCATAACCATTCTGAGGATG -3'

Sequencing Primer
(F):5'- GCCTCATGCCTGCTATATAAAGG -3'
(R):5'- CCATTCTGAGGATGAACTCTACTGAG -3'

Posted On

2016-06-21