Mutagenetix > Incidental Mutation

Incidental Mutation 'R8114:Or8k53'

631049

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

067543-MU

Accession Numbers

Essential gene?

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

Stock #

R8114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86177068-86178108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86177530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 193 (H193Q)

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: H193Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: H193Q

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: H193Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: H193Q

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: H193Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.7%

Validation Efficiency

100% (64/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	T	16: 14,407,091 (GRCm39)	E7*	probably null	Het
Abca7	T	C	10: 79,844,874 (GRCm39)	I1532T	probably damaging	Het
Adam12	T	C	7: 133,569,617 (GRCm39)	D286G	probably damaging	Het
Ahnak2	T	C	12: 112,741,163 (GRCm39)	T970A	probably benign	Het
Apcdd1	A	G	18: 63,083,127 (GRCm39)	N319S	probably damaging	Het
Arih1	A	G	9: 59,303,836 (GRCm39)	M423T	probably benign	Het
Ccdc110	A	T	8: 46,396,140 (GRCm39)	Q677L	probably damaging	Het
Ccdc121rt3	C	A	5: 112,503,563 (GRCm39)	R47L	probably benign	Het
Ccdc171	A	G	4: 83,614,537 (GRCm39)	N1046S	probably damaging	Het
Ccdc63	G	T	5: 122,251,244 (GRCm39)	Q389K	possibly damaging	Het
Cd274	T	C	19: 29,361,528 (GRCm39)	S279P	probably damaging	Het
Cdcp2	A	T	4: 106,962,555 (GRCm39)	I243F	probably damaging	Het
Cfap298	T	C	16: 90,731,545 (GRCm39)	T22A	probably benign	Het
Cul2	A	T	18: 3,426,164 (GRCm39)	K414*	probably null	Het
Daglb	A	G	5: 143,464,218 (GRCm39)	H243R	probably benign	Het
Dnah5	A	T	15: 28,240,122 (GRCm39)	Y493F	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Eea1	G	T	10: 95,830,851 (GRCm39)	E171*	probably null	Het
Eml6	C	T	11: 29,704,910 (GRCm39)	G1545R	probably damaging	Het
Epg5	A	G	18: 78,073,365 (GRCm39)	I2463V	probably benign	Het
Fgl1	A	G	8: 41,644,620 (GRCm39)	Y295H	probably damaging	Het
Frrs1	A	G	3: 116,675,425 (GRCm39)	T118A	probably damaging	Het
Gdi2	T	C	13: 3,598,906 (GRCm39)	V30A	probably damaging	Het
Ints4	A	G	7: 97,165,732 (GRCm39)		probably null	Het
Iqsec3	A	G	6: 121,390,458 (GRCm39)	S338P	unknown	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Ldah	A	G	12: 8,334,039 (GRCm39)	E310G	probably damaging	Het
Mtnr1b	A	G	9: 15,785,563 (GRCm39)	V65A	probably damaging	Het
Myo7b	G	T	18: 32,098,677 (GRCm39)	T1735K	probably damaging	Het
Neb	A	T	2: 52,215,734 (GRCm39)	V191D	possibly damaging	Het
Oas1e	T	C	5: 120,924,708 (GRCm39)	T377A	unknown	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or10al6	T	C	17: 38,082,880 (GRCm39)	F112S	possibly damaging	Het
Or10v9	G	A	19: 11,832,466 (GRCm39)	P284S	probably damaging	Het
Platr25	T	C	13: 62,821,738 (GRCm39)	S70G	possibly damaging	Het
Plcl2	T	C	17: 50,994,815 (GRCm39)	S1095P	probably damaging	Het
Polq	A	G	16: 36,862,577 (GRCm39)	K637E	possibly damaging	Het
Rbm47	T	C	5: 66,184,196 (GRCm39)	I136V	probably benign	Het
Serpinb3c	A	C	1: 107,204,034 (GRCm39)	N59K	probably benign	Het
Shcbp1	T	A	8: 4,817,930 (GRCm39)	N122Y	probably damaging	Het
Sim2	T	C	16: 93,923,503 (GRCm39)	V347A	probably benign	Het
Slc22a30	A	T	19: 8,381,904 (GRCm39)	Y122*	probably null	Het
Slc34a2	G	A	5: 53,225,701 (GRCm39)	S450N	probably benign	Het
Snx17	A	T	5: 31,355,046 (GRCm39)	M354L	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Surf6	G	A	2: 26,782,380 (GRCm39)	Q316*	probably null	Het
Tiprl	A	G	1: 165,055,991 (GRCm39)	S44P	probably benign	Het
Tmem39a	T	G	16: 38,411,359 (GRCm39)	L438R	probably damaging	Het
Tmem39a	C	A	16: 38,411,358 (GRCm39)	L438M	probably damaging	Het
Tns2	G	C	15: 102,019,825 (GRCm39)	V572L	probably benign	Het
Trdn	T	C	10: 32,959,624 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,952,411 (GRCm39)	I587V	probably benign	Het
Usp47	A	G	7: 111,692,394 (GRCm39)	D952G	probably damaging	Het
Vmn2r58	A	T	7: 41,511,392 (GRCm39)	N470K	probably damaging	Het
Vmn2r67	A	T	7: 84,805,097 (GRCm39)	I5N	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ythdc2	A	G	18: 45,010,807 (GRCm39)	D1272G	probably benign	Het
Zfp959	A	G	17: 56,205,496 (GRCm39)	Y511C	probably benign	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
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'- TCTCAAAGGAGTGAATGGATTTTGG -3'
(R):5'- TGTAGCCATCTGCCATCCAC -3'

Sequencing Primer
(F):5'- TGGTTGTGCATACATGAAAAATAGAG -3'
(R):5'- GTAGCCATCTGCCATCCACTACTG -3'

Posted On

2020-06-30