Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Or8k39'

506923

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

044438-MU

Accession Numbers

Essential gene?

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

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86563019-86563954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86563299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 219 (L219P)

Ref Sequence

ENSEMBL: ENSMUSP00000149509 (fasta)

Gene Model

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

AlphaFold

A0A1L1SRK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000214317
AA Change: L219P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atcay	C	T	10: 81,049,114 (GRCm39)	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Baat	A	T	4: 49,502,836 (GRCm39)	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lair1	T	A	7: 4,058,826 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,231,567 (GRCm39)	V47A	probably benign	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Pias2	T	C	18: 77,184,954 (GRCm39)	S5P	probably damaging	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	Het
Zfp551	C	T	7: 12,149,339 (GRCm39)	R690Q	probably 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
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
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'- TGTTCCTCAAGCTGTAGATCAAGG -3'
(R):5'- AAGATGTTCAGGCTTTCATTCTGC -3'

Sequencing Primer
(F):5'- CCTCAAGCTGTAGATCAAGGGATTC -3'
(R):5'- AGGCTTTCATTCTGCAGCTAC -3'

Posted On

2018-03-15