Mutagenetix > Incidental Mutation

Incidental Mutation 'R9744:Or4k48'

731959

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

Accession Numbers

Essential gene?

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

Stock #

R9744 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111475402-111476340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111475664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 226 (R226L)

Ref Sequence

ENSEMBL: ENSMUSP00000146343 (fasta)

Gene Model

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

AlphaFold

Q8VGE6

Predicted Effect

probably benign
Transcript: ENSMUST00000119566
AA Change: R226L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000208284
AA Change: R226L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,742,583 (GRCm39)	M677L	probably benign	Het
Ankrd24	T	G	10: 81,482,951 (GRCm39)	D966E	possibly damaging	Het
Arhgef28	A	G	13: 98,094,261 (GRCm39)	L961P	probably damaging	Het
Atxn1	G	A	13: 45,721,299 (GRCm39)	Q199*	probably null	Het
Bcl2a1c	G	A	9: 114,159,341 (GRCm39)	V40I	probably benign	Het
Cep41	A	G	6: 30,656,603 (GRCm39)	V283A	probably benign	Het
Cerk	A	G	15: 86,033,491 (GRCm39)	Y311H	probably damaging	Het
Ciz1	A	T	2: 32,253,859 (GRCm39)	Q13L	unknown	Het
Cpeb2	T	C	5: 43,391,268 (GRCm39)	S155P		Het
Dmbx1	T	A	4: 115,777,262 (GRCm39)	E200D	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erc1	T	C	6: 119,720,360 (GRCm39)	Y747C	probably damaging	Het
Fhad1	T	C	4: 141,637,124 (GRCm39)	E1114G	probably damaging	Het
Fndc3a	C	A	14: 72,777,693 (GRCm39)	E1171*	probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gys2	A	C	6: 142,394,187 (GRCm39)	D450E	probably benign	Het
Hmcn1	A	T	1: 150,623,941 (GRCm39)	I1120N	probably damaging	Het
Ints3	G	T	3: 90,318,605 (GRCm39)	T210K	probably damaging	Het
Itih5	T	C	2: 10,256,221 (GRCm39)	Y896H	probably damaging	Het
Kcna7	A	G	7: 45,056,402 (GRCm39)	D206G	probably benign	Het
Klhl10	T	A	11: 100,336,396 (GRCm39)	C128S	probably damaging	Het
Klhl5	T	C	5: 65,320,255 (GRCm39)	V603A	probably damaging	Het
Mapk15	T	A	15: 75,869,912 (GRCm39)	I344N	possibly damaging	Het
Mdn1	T	C	4: 32,715,711 (GRCm39)	F1993L	possibly damaging	Het
Myo1c	T	C	11: 75,562,797 (GRCm39)	L959P	probably damaging	Het
Nectin1	A	G	9: 43,715,240 (GRCm39)	Q492R	probably damaging	Het
Nlrp14	A	T	7: 106,796,987 (GRCm39)	L951F	probably damaging	Het
Nlrp5	T	G	7: 23,120,902 (GRCm39)	S705R	possibly damaging	Het
Nlrp9a	A	G	7: 26,267,266 (GRCm39)	Y787C	probably benign	Het
Npsr1	A	G	9: 24,201,182 (GRCm39)	T189A	probably benign	Het
Nup205	T	C	6: 35,209,510 (GRCm39)	Y1606H	probably damaging	Het
Or2w4	A	G	13: 21,795,827 (GRCm39)	F104S	possibly damaging	Het
Or6z5	A	T	7: 6,477,210 (GRCm39)	I34L	probably benign	Het
Pitx2	A	T	3: 129,009,467 (GRCm39)	T129S	probably damaging	Het
Pla2g2c	T	C	4: 138,470,972 (GRCm39)	S118P	probably damaging	Het
Polr1a	A	G	6: 71,906,372 (GRCm39)	N396S	probably benign	Het
Prl	A	T	13: 27,248,338 (GRCm39)	Q135L	probably benign	Het
Prrc2c	A	G	1: 162,505,733 (GRCm39)	L2555P	possibly damaging	Het
Psg29	A	T	7: 16,944,495 (GRCm39)	D335V	probably benign	Het
Psme4	T	C	11: 30,765,294 (GRCm39)		probably null	Het
Ramp2	T	A	11: 101,137,913 (GRCm39)	S52T	unknown	Het
Skint6	C	T	4: 112,666,360 (GRCm39)	G1155D	probably damaging	Het
Sorcs1	G	A	19: 50,215,275 (GRCm39)	R655C	probably damaging	Het
Syne1	A	G	10: 5,274,184 (GRCm39)	C1867R	probably benign	Het
Tcf21	T	C	10: 22,695,726 (GRCm39)	D26G	probably benign	Het
Tmem132a	G	A	19: 10,840,678 (GRCm39)	P418L	probably damaging	Het
Tob1	C	T	11: 94,105,054 (GRCm39)	R197C	probably damaging	Het
Vmn2r110	A	G	17: 20,794,848 (GRCm39)	V607A	probably damaging	Het
Vmn2r30	A	G	7: 7,315,284 (GRCm39)	S850P	possibly damaging	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
R1740:Or4k48	UTSW	2	111,476,214 (GRCm39)	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- TCTCAGTGTATAAATGGCTGGG -3'
(R):5'- ACTTGAAGAGGTGCACTGGG -3'

Sequencing Primer
(F):5'- CTCAGTGTATAAATGGCTGGGTTTAG -3'
(R):5'- CTTGGACAATTGGATTCATACATGG -3'

Posted On

2022-11-14