Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Or8k53'

730224

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86177068-86178108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86177583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 176 (H176Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097479 (fasta)

Gene Model

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

AlphaFold

A2AVX9

Predicted Effect

probably benign
Transcript: ENSMUST00000099894
AA Change: H176Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: H176Y

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 benign
Transcript: ENSMUST00000188023
AA Change: H176Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: H176Y

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: H176Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,765,784 (GRCm39)	M20L	probably benign	Het
Aadacl4fm1	C	T	4: 144,255,354 (GRCm39)	A258V	probably benign	Het
Abca8b	T	A	11: 109,833,163 (GRCm39)	D1241V	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Adcy10	T	C	1: 165,340,681 (GRCm39)	F229L	probably damaging	Het
Adsl	A	T	15: 80,839,840 (GRCm39)	N126I	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Ahnak	AGATCTC	A	19: 8,984,392 (GRCm39)		probably benign	Het
Aktip	G	A	8: 91,856,355 (GRCm39)	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,811,318 (GRCm39)	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,197,734 (GRCm39)	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,331,034 (GRCm39)	L583F	probably damaging	Het
Arhgef40	T	C	14: 52,226,415 (GRCm39)	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,498,757 (GRCm39)	S179G	probably benign	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Ccdc136	A	G	6: 29,417,441 (GRCm39)	E754G	probably benign	Het
Cers3	A	G	7: 66,423,378 (GRCm39)	K108E	probably benign	Het
Cmya5	T	C	13: 93,201,881 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,367,148 (GRCm39)	E478G	possibly damaging	Het
Colec10	T	A	15: 54,323,180 (GRCm39)	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,784,895 (GRCm39)	I514F	probably damaging	Het
Cux1	C	T	5: 136,338,673 (GRCm39)	E664K	probably benign	Het
Dars1	T	C	1: 128,333,199 (GRCm39)	Q75R	probably benign	Het
Disp1	T	A	1: 182,917,379 (GRCm39)	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Ep400	T	A	5: 110,904,509 (GRCm39)	H30L	unknown	Het
Ephx4	A	G	5: 107,567,647 (GRCm39)	I202V	probably benign	Het
Exoc3	A	T	13: 74,341,027 (GRCm39)	F259Y	probably damaging	Het
Ezr	T	C	17: 7,020,394 (GRCm39)	E229G	probably damaging	Het
Fat1	A	T	8: 45,470,417 (GRCm39)	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972 (GRCm39)	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064 (GRCm39)	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,798,216 (GRCm39)	M759K	probably benign	Het
Gm9922	C	T	14: 101,966,893 (GRCm39)	A120T	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,276,696 (GRCm39)	S465G	unknown	Het
Ifi204	T	C	1: 173,576,924 (GRCm39)	Y559C	probably damaging	Het
Ift88	T	C	14: 57,718,853 (GRCm39)	S613P	probably damaging	Het
Kif21a	G	C	15: 90,869,528 (GRCm39)	A441G	probably damaging	Het
Kif21a	G	T	15: 90,879,715 (GRCm39)	T191K	probably benign	Het
Lrit1	T	A	14: 36,782,084 (GRCm39)	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837 (GRCm39)	D29E	probably benign	Het
Nlrp10	A	T	7: 108,524,735 (GRCm39)	D248E	probably damaging	Het
Nphp4	T	G	4: 152,631,521 (GRCm39)	V807G	probably benign	Het
Nsd1	T	C	13: 55,393,856 (GRCm39)	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,952,550 (GRCm39)	N80K	probably damaging	Het
Oprk1	T	A	1: 5,669,096 (GRCm39)	C181S	probably damaging	Het
Oprl1	T	A	2: 181,360,212 (GRCm39)	N89K	probably damaging	Het
Or5w12	A	T	2: 87,502,105 (GRCm39)	I202N	probably benign	Het
Pdcd11	A	G	19: 47,117,741 (GRCm39)	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607 (GRCm39)	H254Y	probably benign	Het
Pds5b	A	T	5: 150,729,128 (GRCm39)	D1419V	possibly damaging	Het
Per1	G	T	11: 68,991,475 (GRCm39)	G3V	probably benign	Het
Pex16	C	A	2: 92,206,988 (GRCm39)	N55K	probably damaging	Het
Phldb2	C	A	16: 45,595,340 (GRCm39)	L862F	probably benign	Het
Pld5	T	A	1: 175,791,572 (GRCm39)	D478V	probably benign	Het
Pms2	T	C	5: 143,851,614 (GRCm39)	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,326,758 (GRCm39)	E119D	probably benign	Het
Ppp2r1a	A	C	17: 21,179,058 (GRCm39)	E295A	probably damaging	Het
Qrfprl	A	G	6: 65,433,124 (GRCm39)	I315V	probably benign	Het
Rad51ap2	A	T	12: 11,507,593 (GRCm39)	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,615,536 (GRCm39)	V434G	probably damaging	Het
Rasgrf2	C	T	13: 92,136,092 (GRCm39)	V6M		Het
Rwdd1	A	T	10: 33,877,152 (GRCm39)	D197E		Het
Scn11a	A	T	9: 119,619,076 (GRCm39)	C755*	probably null	Het
Skil	T	C	3: 31,171,009 (GRCm39)	S443P	probably benign	Het
Slc12a6	T	C	2: 112,186,817 (GRCm39)	C939R	probably damaging	Het
Slc25a36	A	G	9: 96,961,230 (GRCm39)	S269P	probably benign	Het
Srrm4	T	A	5: 116,620,452 (GRCm39)	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tbc1d4	A	T	14: 101,744,846 (GRCm39)	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,424,313 (GRCm39)	N593D	probably damaging	Het
Trex1	C	A	9: 108,887,805 (GRCm39)	R62L	probably damaging	Het
Trpm3	A	T	19: 22,692,716 (GRCm39)	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,771,211 (GRCm39)	Y439*	probably null	Het
Ttn	G	A	2: 76,564,592 (GRCm39)	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,815,571 (GRCm39)	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,033,881 (GRCm39)	I212V	possibly damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,481,960 (GRCm39)	D95V	probably benign	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		Het
Zfp1002	C	T	2: 150,096,496 (GRCm39)	R311Q	probably benign	Het
Zfp28	T	C	7: 6,396,878 (GRCm39)	C438R	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
R6345:Or8k53	UTSW	2	86,177,892 (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
Z1176:Or8k53	UTSW	2	86,177,227 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

Posted On

2022-10-06