Mutagenetix > Incidental Mutation

Incidental Mutation 'R1740:Or4k48'

200255

Institutional Source

Beutler Lab

Gene Symbol

Or4k48

Ensembl Gene

ENSMUSG00000109487

Gene Name

olfactory receptor family 4 subfamily K member 48

Synonyms

Olfr1298, GA_x6K02T2Q125-72697413-72696475, MOR248-6

MMRRC Submission

039772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R1740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111475402-111476340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111476214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 43 (I43F)

Ref Sequence

ENSEMBL: ENSMUSP00000146343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]

AlphaFold

Q8VGE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090322
AA Change: I43F

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: I43F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	6.7e-48	PFAM
Pfam:7tm_1	41	287	1.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119566
AA Change: I43F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208284
AA Change: I43F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

99% (69/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,549 (GRCm39)	C417*	probably null	Het
4930548G14Rik	G	A	15: 46,488,885 (GRCm39)		noncoding transcript	Het
Abcc12	T	A	8: 87,232,126 (GRCm39)	K1311*	probably null	Het
Abcc12	T	C	8: 87,236,400 (GRCm39)	D1138G	possibly damaging	Het
Adam32	A	G	8: 25,411,314 (GRCm39)	S116P	probably damaging	Het
Arhgef26	C	T	3: 62,331,004 (GRCm39)	L39F	probably damaging	Het
Babam1	T	C	8: 71,855,663 (GRCm39)	I252T	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc61	G	T	7: 18,637,862 (GRCm39)		probably benign	Het
Ccdc89	C	T	7: 90,075,946 (GRCm39)	S52F	probably damaging	Het
Cds2	T	A	2: 132,144,133 (GRCm39)	I320N	possibly damaging	Het
Cebpe	T	C	14: 54,949,399 (GRCm39)	Y6C	probably damaging	Het
Cep250	T	A	2: 155,815,276 (GRCm39)	I598N	probably damaging	Het
Cep350	T	A	1: 155,804,579 (GRCm39)	I835F	probably damaging	Het
Ces3a	T	C	8: 105,775,317 (GRCm39)	L22P	probably damaging	Het
Cfap221	T	C	1: 119,873,558 (GRCm39)	S490G	probably benign	Het
Cyp2j11	A	G	4: 96,207,613 (GRCm39)	V234A	probably benign	Het
Dgat1	T	C	15: 76,386,929 (GRCm39)	H399R	probably damaging	Het
Dnah10	A	T	5: 124,850,254 (GRCm39)		probably null	Het
Ebpl	T	G	14: 61,578,656 (GRCm39)	K193T	probably benign	Het
Entpd5	T	C	12: 84,443,545 (GRCm39)	N66S	probably benign	Het
Fcgbp	G	T	7: 27,800,674 (GRCm39)	G1240V	possibly damaging	Het
Gabra5	A	G	7: 57,071,590 (GRCm39)	S209P	probably benign	Het
Glce	A	T	9: 61,977,815 (GRCm39)	V23D	probably damaging	Het
Gm14226	GACTGTTAC	GAC	2: 154,866,851 (GRCm39)		probably benign	Het
Gtf2h1	A	G	7: 46,461,890 (GRCm39)	N296S	probably null	Het
Herc6	T	C	6: 57,629,050 (GRCm39)	S654P	probably benign	Het
Kcnk3	A	T	5: 30,779,321 (GRCm39)	M124L	possibly damaging	Het
Lamb2	T	G	9: 108,359,127 (GRCm39)	V281G	probably damaging	Het
Lctl	A	T	9: 64,040,389 (GRCm39)	D444V	probably damaging	Het
Mcm2	A	G	6: 88,861,026 (GRCm39)	F891L	probably damaging	Het
Mcub	A	T	3: 129,712,376 (GRCm39)	H166Q	probably benign	Het
Mical2	G	T	7: 111,933,043 (GRCm39)	R739L	probably benign	Het
Mideas	T	C	12: 84,219,676 (GRCm39)	E426G	probably damaging	Het
Mkrn2	G	T	6: 115,590,330 (GRCm39)	A229S	probably damaging	Het
Mmp7	A	G	9: 7,695,278 (GRCm39)	Y80C	possibly damaging	Het
Mpp2	T	C	11: 101,953,222 (GRCm39)		probably null	Het
Msh6	C	A	17: 88,293,150 (GRCm39)	T635K	possibly damaging	Het
Mvd	T	A	8: 123,163,286 (GRCm39)	T315S	probably benign	Het
Myocd	C	T	11: 65,109,347 (GRCm39)		probably benign	Het
Nav1	C	T	1: 135,386,127 (GRCm39)		probably null	Het
Pde4b	A	T	4: 102,344,548 (GRCm39)	D141V	probably damaging	Het
Pdgfrb	A	T	18: 61,214,905 (GRCm39)	D978V	possibly damaging	Het
Prss55	T	C	14: 64,313,129 (GRCm39)	T252A	probably damaging	Het
Psd3	A	T	8: 68,573,491 (GRCm39)	V230E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptprn	A	G	1: 75,238,694 (GRCm39)	V82A	probably damaging	Het
Ptpru	G	T	4: 131,520,989 (GRCm39)		probably null	Het
Raph1	T	A	1: 60,558,183 (GRCm39)	K258*	probably null	Het
Rnf25	A	G	1: 74,637,886 (GRCm39)	V28A	probably damaging	Het
Slc25a4	C	T	8: 46,661,540 (GRCm39)	V212M	probably benign	Het
Slc39a3	T	C	10: 80,867,342 (GRCm39)	S135G	probably damaging	Het
Slco6d1	A	G	1: 98,356,097 (GRCm39)	I220M	probably damaging	Het
Smim19	G	T	8: 22,963,544 (GRCm39)	Y21*	probably null	Het
Speer4f1	A	C	5: 17,683,759 (GRCm39)	Y141S	probably damaging	Het
Srgap2	G	A	1: 131,217,126 (GRCm39)	P1062L	probably benign	Het
Stra8	A	T	6: 34,904,654 (GRCm39)		probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem40	A	G	6: 115,715,960 (GRCm39)	S76P	probably benign	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Vmn1r128	A	T	7: 21,083,869 (GRCm39)	Q191L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	Het

Other mutations in Or4k48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Or4k48	APN	2	111,475,601 (GRCm39)	missense	probably damaging	1.00
IGL01571:Or4k48	APN	2	111,475,725 (GRCm39)	missense	probably benign	0.00
IGL02605:Or4k48	APN	2	111,475,850 (GRCm39)	missense	probably benign	0.00
IGL02652:Or4k48	APN	2	111,475,839 (GRCm39)	missense	probably benign	0.16
IGL02669:Or4k48	APN	2	111,476,236 (GRCm39)	nonsense	probably null
R0197:Or4k48	UTSW	2	111,476,136 (GRCm39)	missense	probably benign	0.00
R0701:Or4k48	UTSW	2	111,476,136 (GRCm39)	missense	probably benign	0.00
R0883:Or4k48	UTSW	2	111,476,136 (GRCm39)	missense	probably benign	0.00
R1563:Or4k48	UTSW	2	111,476,027 (GRCm39)	missense	probably damaging	1.00
R1567:Or4k48	UTSW	2	111,476,271 (GRCm39)	missense	possibly damaging	0.92
R2142:Or4k48	UTSW	2	111,475,566 (GRCm39)	missense	probably benign	0.04
R3949:Or4k48	UTSW	2	111,475,871 (GRCm39)	missense	possibly damaging	0.67
R4766:Or4k48	UTSW	2	111,476,226 (GRCm39)	missense	probably benign
R4924:Or4k48	UTSW	2	111,476,121 (GRCm39)	missense	possibly damaging	0.87
R7320:Or4k48	UTSW	2	111,476,297 (GRCm39)	missense	probably benign	0.03
R7695:Or4k48	UTSW	2	111,475,970 (GRCm39)	missense	probably damaging	1.00
R7961:Or4k48	UTSW	2	111,476,282 (GRCm39)	missense	probably damaging	0.97
R8549:Or4k48	UTSW	2	111,479,512 (GRCm39)	start gained	probably benign
R8958:Or4k48	UTSW	2	111,476,070 (GRCm39)	missense	possibly damaging	0.93
R9444:Or4k48	UTSW	2	111,476,132 (GRCm39)	missense	probably damaging	1.00
R9744:Or4k48	UTSW	2	111,475,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAAAGGAAATGGTCTTGTTTTCGCT -3'
(R):5'- TCTTGCAAAGTTGCTCTTGACTCATGAA -3'

Sequencing Primer
(F):5'- GTCTTGTTTTCGCTGAGAAAATC -3'
(R):5'- CAGGTGAGTTCTAATATGGATGCC -3'

Posted On

2014-05-23