Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Olfr53'

320846

Institutional Source

Beutler Lab

Gene Symbol

Olfr53

Ensembl Gene

ENSMUSG00000094819

Gene Name

olfactory receptor 53

Synonyms

GA_x6K02T2PBJ9-42798103-42799038, IE12, MOR253-5

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140646452-140653085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140652740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 254 (Y254H)

Ref Sequence

ENSEMBL: ENSMUSP00000081494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084456] [ENSMUST00000211057] [ENSMUST00000211399]

AlphaFold

Q8VGL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084456
AA Change: Y254H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081494
Gene: ENSMUSG00000094819
AA Change: Y254H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	6.5e-51	PFAM
Pfam:7TM_GPCR_Srsx	37	208	9.7e-7	PFAM
Pfam:7tm_1	43	292	1.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211057

Predicted Effect

probably benign
Transcript: ENSMUST00000211399

Meta Mutation Damage Score

0.3746

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Olfr53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Olfr53	APN	7	140652476	missense	probably benign	0.00
IGL01071:Olfr53	APN	7	140652914	missense	possibly damaging	0.76
IGL02590:Olfr53	APN	7	140652392	splice site	probably null
IGL02694:Olfr53	APN	7	140652180	missense	probably damaging	0.99
R0071:Olfr53	UTSW	7	140652257	missense	probably benign	0.00
R0071:Olfr53	UTSW	7	140652257	missense	probably benign	0.00
R0089:Olfr53	UTSW	7	140652311	missense	probably damaging	0.99
R0586:Olfr53	UTSW	7	140652063	missense	probably benign	0.35
R1209:Olfr53	UTSW	7	140652014	missense	probably benign	0.03
R1491:Olfr53	UTSW	7	140652737	missense	probably damaging	1.00
R1781:Olfr53	UTSW	7	140652506	missense	probably damaging	0.99
R4060:Olfr53	UTSW	7	140652120	missense	probably damaging	1.00
R4236:Olfr53	UTSW	7	140652740	missense	probably damaging	1.00
R4299:Olfr53	UTSW	7	140652243	missense	probably benign	0.00
R4398:Olfr53	UTSW	7	140652828	missense	possibly damaging	0.65
R4675:Olfr53	UTSW	7	140652161	missense	probably damaging	1.00
R4937:Olfr53	UTSW	7	140652621	missense	probably benign	0.00
R5854:Olfr53	UTSW	7	140652578	missense	probably benign	0.03
R6124:Olfr53	UTSW	7	140652594	missense	probably damaging	1.00
R7092:Olfr53	UTSW	7	140652237	missense	probably benign	0.16
R7167:Olfr53	UTSW	7	140652553	nonsense	probably null
R7846:Olfr53	UTSW	7	140652461	missense	probably damaging	0.96
R7896:Olfr53	UTSW	7	140652901	missense	probably benign	0.00
R8080:Olfr53	UTSW	7	140652474	missense	probably benign	0.05
R8847:Olfr53	UTSW	7	140652413	missense	possibly damaging	0.80
R8926:Olfr53	UTSW	7	140652200	missense	probably benign	0.03
R9391:Olfr53	UTSW	7	140652359	missense	probably damaging	0.99
R9414:Olfr53	UTSW	7	140652350
Z1177:Olfr53	UTSW	7	140652787	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACCCACTTCTTCTGTGAGATAC -3'
(R):5'- GAAAGAGGCCAACATCCTGC -3'

Sequencing Primer
(F):5'- TGTGAGATACCCCCACTCC -3'
(R):5'- CCCAAGGCAAGCTTGACATC -3'

Posted On

2015-06-12