Mutagenetix > Incidental Mutation

Incidental Mutation 'R7382:Or8k39'

572774

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

045464-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R7382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86563019-86563954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86563129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 276 (I276V)

Ref Sequence

ENSEMBL: ENSMUSP00000149509 (fasta)

Gene Model

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

AlphaFold

A0A1L1SRK6

Predicted Effect

probably benign
Transcript: ENSMUST00000214317
AA Change: I276V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.1491

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 78,903,103 (GRCm39)	H404Q	probably damaging	Het
Aadacl2fm2	T	A	3: 59,651,037 (GRCm39)	M53K	probably benign	Het
Adam8	T	A	7: 139,570,020 (GRCm39)	T82S	possibly damaging	Het
Adgrl2	T	G	3: 148,522,919 (GRCm39)	Q435P		Het
Ahr	A	T	12: 35,554,514 (GRCm39)	M535K	probably damaging	Het
Akap6	A	G	12: 53,188,954 (GRCm39)	I2123V	probably benign	Het
Ankrd2	G	T	19: 42,033,411 (GRCm39)	G318C		Het
Ap4e1	T	A	2: 126,850,822 (GRCm39)		probably null	Het
Atp8a2	G	A	14: 59,892,043 (GRCm39)	P1102S	probably benign	Het
Cacna2d4	C	T	6: 119,216,048 (GRCm39)	S105F	probably damaging	Het
Cad	C	A	5: 31,233,173 (GRCm39)	P1872T	probably benign	Het
Catsperg1	A	G	7: 28,904,269 (GRCm39)	F251L	probably benign	Het
Ccdc18	C	A	5: 108,286,873 (GRCm39)	Q136K	probably damaging	Het
Cd163	A	G	6: 124,288,271 (GRCm39)		probably null	Het
Cd209d	A	T	8: 3,927,965 (GRCm39)	Y46*	probably null	Het
Cdk5rap2	A	T	4: 70,208,262 (GRCm39)	M728K	probably benign	Het
Cdon	A	G	9: 35,389,944 (GRCm39)	D866G	probably damaging	Het
Cenpl	A	G	1: 160,906,031 (GRCm39)	H135R	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Clstn2	A	T	9: 97,681,451 (GRCm39)	L63*	probably null	Het
Cpeb4	A	G	11: 31,822,828 (GRCm39)	T181A	probably damaging	Het
Dlgap1	A	G	17: 71,094,169 (GRCm39)	E830G	probably damaging	Het
Endou	T	A	15: 97,616,807 (GRCm39)	K239*	probably null	Het
Ezh2	T	C	6: 47,528,770 (GRCm39)	N263S	possibly damaging	Het
Fbxw2	T	C	2: 34,697,314 (GRCm39)	D351G	probably benign	Het
Fer1l4	A	T	2: 155,862,669 (GRCm39)	Y1720*	probably null	Het
Fmo9	A	T	1: 166,491,229 (GRCm39)		probably null	Het
Frmpd1	T	A	4: 45,278,880 (GRCm39)	V535E	probably benign	Het
Fxr2	T	C	11: 69,532,382 (GRCm39)	V139A	probably benign	Het
Gpr180	T	G	14: 118,400,035 (GRCm39)	V401G	possibly damaging	Het
Heatr5b	G	T	17: 79,110,936 (GRCm39)	R971S	possibly damaging	Het
Igkv8-34	C	A	6: 70,021,103 (GRCm39)	A120S	probably benign	Het
Inpp5b	T	A	4: 124,645,370 (GRCm39)	H219Q	probably benign	Het
Itprid1	G	T	6: 55,955,404 (GRCm39)	G1004V	probably benign	Het
Kremen2	T	C	17: 23,962,526 (GRCm39)		probably null	Het
Mael	G	A	1: 166,029,167 (GRCm39)	P419S	probably benign	Het
Map1a	A	G	2: 121,121,266 (GRCm39)	T102A	probably damaging	Het
Mfsd2a	A	T	4: 122,845,916 (GRCm39)	I119N	possibly damaging	Het
Muc5b	T	C	7: 141,412,685 (GRCm39)	V1877A	unknown	Het
Myo5c	A	C	9: 75,211,332 (GRCm39)	S1733R	probably damaging	Het
Nelfcd	T	C	2: 174,265,176 (GRCm39)	V248A	probably benign	Het
Npc1	A	T	18: 12,334,763 (GRCm39)	I663N	probably damaging	Het
Olig3	T	A	10: 19,232,413 (GRCm39)	S13T	unknown	Het
Or1j17	G	T	2: 36,578,046 (GRCm39)	E11*	probably null	Het
Piezo2	A	C	18: 63,150,590 (GRCm39)		probably null	Het
Pkd1l2	G	T	8: 117,781,610 (GRCm39)	L812M	possibly damaging	Het
Plcd1	G	A	9: 118,903,759 (GRCm39)	T387I	probably damaging	Het
Ppara	C	T	15: 85,671,429 (GRCm39)	S110L	probably damaging	Het
Ranbp9	C	T	13: 43,578,590 (GRCm39)	R161Q	probably damaging	Het
Rufy2	G	T	10: 62,833,748 (GRCm39)	R270L	probably benign	Het
Septin12	C	T	16: 4,806,346 (GRCm39)	E272K	probably damaging	Het
Sgms1	T	C	19: 32,137,182 (GRCm39)	E128G	possibly damaging	Het
Sh3bgr	G	A	16: 96,007,093 (GRCm39)	S21N	probably benign	Het
Sil1	A	T	18: 35,458,466 (GRCm39)	D176E	probably benign	Het
Slc13a2	A	T	11: 78,295,621 (GRCm39)	Y82N	probably damaging	Het
Slc41a1	C	T	1: 131,774,370 (GRCm39)	P479L	probably damaging	Het
Smarca4	A	G	9: 21,570,229 (GRCm39)	K744R	probably damaging	Het
Stxbp1	T	C	2: 32,688,180 (GRCm39)	D495G	probably damaging	Het
Sugp2	T	C	8: 70,695,494 (GRCm39)	S156P	probably benign	Het
Syt3	A	T	7: 44,042,170 (GRCm39)	D343V	probably damaging	Het
Tbl3	G	T	17: 24,924,265 (GRCm39)	T164N	probably benign	Het
Tbpl2	A	T	2: 23,977,326 (GRCm39)		probably null	Het
Tcf7l2	T	A	19: 55,915,172 (GRCm39)	W461R	unknown	Het
Tmprss11c	A	T	5: 86,379,723 (GRCm39)	F395Y	probably benign	Het
Tnc	A	T	4: 63,932,280 (GRCm39)	Y711*	probably null	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc41	A	G	10: 86,612,374 (GRCm39)	K1216E	probably damaging	Het
Ube2q2	A	C	9: 55,070,298 (GRCm39)	D80A	probably damaging	Het
Ube2u	A	T	4: 100,389,379 (GRCm39)	K227*	probably null	Het
Uhrf2	T	C	19: 30,048,788 (GRCm39)	Y265H	possibly damaging	Het
Vmn1r208	T	G	13: 22,956,756 (GRCm39)	Y247S	probably damaging	Het
Vmn2r27	A	G	6: 124,174,276 (GRCm39)	C525R	probably damaging	Het
Vps13a	T	C	19: 16,596,849 (GRCm39)	T3090A	probably damaging	Het
Whrn	T	C	4: 63,336,573 (GRCm39)	K674R	probably benign	Het
Zfp202	G	T	9: 40,122,801 (GRCm39)	R521I	probably damaging	Het
Zfp433	T	C	10: 81,556,659 (GRCm39)	V387A	probably benign	Het
Zpld1	T	C	16: 55,067,046 (GRCm39)		probably null	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
R5154:Or8k39	UTSW	2	86,563,121 (GRCm39)	nonsense	probably null
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
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'- AACCTGGAAAGCCTCATGCC -3'
(R):5'- ACCATTGCTCTGTTCAAACAC -3'

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

Posted On

2019-09-13