Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Or8k53'

514087

Institutional Source

Beutler Lab

Gene Symbol

Or8k53

Ensembl Gene

ENSMUSG00000075189

Gene Name

olfactory receptor family 8 subfamily K member 53

Synonyms

MOR186-1, GA_x6K02T2Q125-47819205-47818258, Olfr1055

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86177068-86178108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86177892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 73 (Y73H)

Ref Sequence

ENSEMBL: ENSMUSP00000140847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099894] [ENSMUST00000188023] [ENSMUST00000213564]

AlphaFold

A2AVX9

Predicted Effect

probably benign
Transcript: ENSMUST00000099894
AA Change: Y73H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: Y73H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.3e-49	PFAM
Pfam:7tm_1	41	290	1.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188023
AA Change: Y73H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: Y73H

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	5.7e-30	PFAM
Pfam:7tm_4	139	283	9.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213564
AA Change: Y73H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	Het

Other mutations in Or8k53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Or8k53	APN	2	86,178,077 (GRCm39)	missense	possibly damaging	0.71
IGL02524:Or8k53	APN	2	86,177,686 (GRCm39)	missense	probably damaging	1.00
R0123:Or8k53	UTSW	2	86,178,072 (GRCm39)	missense	possibly damaging	0.46
R0134:Or8k53	UTSW	2	86,178,072 (GRCm39)	missense	possibly damaging	0.46
R0225:Or8k53	UTSW	2	86,178,072 (GRCm39)	missense	possibly damaging	0.46
R1981:Or8k53	UTSW	2	86,177,486 (GRCm39)	missense	possibly damaging	0.94
R4181:Or8k53	UTSW	2	86,177,581 (GRCm39)	missense	probably damaging	1.00
R5011:Or8k53	UTSW	2	86,177,647 (GRCm39)	missense	probably benign	0.00
R5013:Or8k53	UTSW	2	86,177,647 (GRCm39)	missense	probably benign	0.00
R5077:Or8k53	UTSW	2	86,177,683 (GRCm39)	missense	probably benign	0.00
R6312:Or8k53	UTSW	2	86,177,925 (GRCm39)	missense	probably damaging	1.00
R6591:Or8k53	UTSW	2	86,177,763 (GRCm39)	missense	probably damaging	1.00
R6626:Or8k53	UTSW	2	86,177,364 (GRCm39)	missense	possibly damaging	0.81
R6680:Or8k53	UTSW	2	86,177,589 (GRCm39)	missense	probably damaging	1.00
R6691:Or8k53	UTSW	2	86,177,763 (GRCm39)	missense	probably damaging	1.00
R7447:Or8k53	UTSW	2	86,177,150 (GRCm39)	missense	possibly damaging	0.86
R7622:Or8k53	UTSW	2	86,178,006 (GRCm39)	missense	possibly damaging	0.61
R8114:Or8k53	UTSW	2	86,177,530 (GRCm39)	missense	probably benign	0.00
R8138:Or8k53	UTSW	2	86,177,930 (GRCm39)	missense	possibly damaging	0.81
R8242:Or8k53	UTSW	2	86,177,426 (GRCm39)	missense	probably damaging	0.99
R8260:Or8k53	UTSW	2	86,177,276 (GRCm39)	missense	possibly damaging	0.65
R8360:Or8k53	UTSW	2	86,177,668 (GRCm39)	missense	possibly damaging	0.79
R8433:Or8k53	UTSW	2	86,177,144 (GRCm39)	missense	unknown
R8927:Or8k53	UTSW	2	86,178,090 (GRCm39)	missense	possibly damaging	0.92
R8928:Or8k53	UTSW	2	86,178,090 (GRCm39)	missense	possibly damaging	0.92
R9150:Or8k53	UTSW	2	86,177,336 (GRCm39)	missense	probably damaging	0.99
R9291:Or8k53	UTSW	2	86,177,768 (GRCm39)	missense	probably benign	0.14
R9487:Or8k53	UTSW	2	86,177,846 (GRCm39)	missense	probably benign	0.10
R9712:Or8k53	UTSW	2	86,177,583 (GRCm39)	missense	probably benign	0.22
Z1176:Or8k53	UTSW	2	86,177,227 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTAAGGTATTGCCACCAGAACATG -3'
(R):5'- AATCACAGATCTCCCTGAACTG -3'

Sequencing Primer
(F):5'- GCCACCAGAACATGACATAATCTTTG -3'
(R):5'- GAACTGCAGGCCCCTTTATTTGG -3'

Posted On

2018-04-27