Mutagenetix > Incidental Mutation

Incidental Mutation 'R2234:Or8k39'

239904

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

040235-MU

Accession Numbers

Essential gene?

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

Stock #

R2234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86563019-86563954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86563921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 12 (F12L)

Ref Sequence

ENSEMBL: ENSMUSP00000149509 (fasta)

Gene Model

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

AlphaFold

A0A1L1SRK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099876
AA Change: F12L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: F12L

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

possibly damaging
Transcript: ENSMUST00000214317
AA Change: F12L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Akap8l	C	T	17: 32,557,777 (GRCm39)	G37R	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cd81	T	A	7: 142,620,056 (GRCm39)	N71K	probably benign	Het
Cemip	G	T	7: 83,647,770 (GRCm39)	D103E	probably benign	Het
Chfr	A	G	5: 110,318,729 (GRCm39)	K580E	probably damaging	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cpb1	A	T	3: 20,329,629 (GRCm39)	D32E	probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
Eml5	A	C	12: 98,807,840 (GRCm39)	D984E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hspa2	A	G	12: 76,451,419 (GRCm39)	T38A	possibly damaging	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kalrn	C	A	16: 33,996,632 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,763,129 (GRCm39)	D240G	probably damaging	Het
Lrrc56	T	A	7: 140,778,207 (GRCm39)	D66E	probably damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2d4	C	A	7: 106,543,827 (GRCm39)	C127F	probably damaging	Het
Or4c114	A	G	2: 88,904,592 (GRCm39)	L281P	probably damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or7g19	A	T	9: 18,856,112 (GRCm39)	H56L	probably damaging	Het
Pax8	A	G	2: 24,333,114 (GRCm39)	I77T	probably damaging	Het
Paxbp1	T	C	16: 90,831,822 (GRCm39)	I355M	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Plec	A	T	15: 76,061,147 (GRCm39)	I2952N	probably damaging	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Ssc5d	A	G	7: 4,946,849 (GRCm39)	T1068A	probably benign	Het
Stambp	A	G	6: 83,528,960 (GRCm39)	S362P	probably damaging	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xpnpep1	T	G	19: 53,001,892 (GRCm39)	D118A	probably damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	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
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
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'- GTGACAGCCAAGTGTTTGAG -3'
(R):5'- CTCCAAGTTGAGCCATTGAAC -3'

Sequencing Primer
(F):5'- GAAAGAAGTACATGGGTGTTTGC -3'
(R):5'- CAAGTTGAGCCATTGAACTATGTTTC -3'

Posted On

2014-10-15