Mutagenetix > Incidental Mutation

Incidental Mutation 'R0134:Or8k53'

21802

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

038419-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0134 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

86346624-86350284 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86347728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 13 (I13V)

Ref Sequence

ENSEMBL: ENSMUSP00000149219 (fasta)

Gene Model

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

AlphaFold

A2AVX9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099894
AA Change: I13V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: I13V

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: I13V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: I13V

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

possibly damaging
Transcript: ENSMUST00000213564
AA Change: I13V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.4%
20x: 93.3%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,598,201 (GRCm38)		probably benign	Het
Abca16	T	A	7: 120,540,155 (GRCm38)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328 (GRCm38)	V70L	probably benign	Het
Bicd1	T	C	6: 149,512,950 (GRCm38)	I387T	probably benign	Het
Btbd9	C	T	17: 30,274,942 (GRCm38)	D492N	possibly damaging	Het
Cd59b	G	A	2: 104,078,941 (GRCm38)		probably null	Het
Ddx50	A	T	10: 62,621,377 (GRCm38)		probably benign	Het
Dele1	G	A	18: 38,261,264 (GRCm38)	V505I	probably benign	Het
Dnlz	T	C	2: 26,351,368 (GRCm38)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,740,531 (GRCm38)	F108L	probably damaging	Het
Esyt2	A	G	12: 116,367,710 (GRCm38)	N736S	probably damaging	Het
Exoc4	A	G	6: 33,971,946 (GRCm38)	D908G	possibly damaging	Het
Garnl3	T	C	2: 33,006,804 (GRCm38)	T608A	possibly damaging	Het
Hdac2	T	A	10: 36,989,184 (GRCm38)	D131E	probably benign	Het
Hes1	T	C	16: 30,067,250 (GRCm38)	V224A	probably damaging	Het
Hps1	G	T	19: 42,766,180 (GRCm38)	Q277K	probably damaging	Het
Ighv15-2	T	G	12: 114,565,037 (GRCm38)		probably benign	Het
Il3	A	G	11: 54,265,680 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,111,342 (GRCm38)	M91L	probably benign	Het
Kctd21	T	A	7: 97,348,091 (GRCm38)	I257N	probably benign	Het
Kif16b	A	T	2: 142,672,375 (GRCm38)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,838,679 (GRCm38)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606 (GRCm38)	V278A	probably benign	Het
Lrp1b	T	C	2: 40,596,983 (GRCm38)	E142G	probably damaging	Het
Macf1	T	C	4: 123,432,843 (GRCm38)	M2835V	possibly damaging	Het
Map9	G	A	3: 82,359,983 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,334,454 (GRCm38)		probably benign	Het
Mndal	A	T	1: 173,857,513 (GRCm38)		probably benign	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Nepn	A	T	10: 52,400,437 (GRCm38)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,435,925 (GRCm38)	C546Y	probably damaging	Het
Or14a260	A	G	7: 86,335,595 (GRCm38)	I267T	probably benign	Het
Pdgfra	A	G	5: 75,166,511 (GRCm38)	D123G	probably damaging	Het
Plekhn1	T	C	4: 156,228,243 (GRCm38)	R53G	probably benign	Het
Pnp2	T	C	14: 50,963,177 (GRCm38)	F100S	probably damaging	Het
Prickle1	A	G	15: 93,510,777 (GRCm38)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095 (GRCm38)	C309S	probably benign	Het
Rimoc1	T	C	15: 3,986,294 (GRCm38)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,657,476 (GRCm38)	S327P	probably damaging	Het
Siah2	A	G	3: 58,676,115 (GRCm38)	V250A	probably damaging	Het
Siglecg	G	A	7: 43,411,171 (GRCm38)	G325D	probably damaging	Het
Slc10a7	T	A	8: 78,697,158 (GRCm38)		probably null	Het
Slc9a1	A	G	4: 133,420,605 (GRCm38)	K645E	probably benign	Het
Smarca4	T	C	9: 21,637,324 (GRCm38)	L302P	probably damaging	Het
Smyd1	G	T	6: 71,216,765 (GRCm38)	T392N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Tenm3	A	T	8: 48,674,472 (GRCm38)	L57Q	probably damaging	Het
Tep1	C	T	14: 50,829,693 (GRCm38)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256 (GRCm38)	S32P	probably damaging	Het
Tsfm	A	G	10: 127,022,929 (GRCm38)		probably benign	Het
Ttn	C	A	2: 76,793,130 (GRCm38)	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124 (GRCm38)	R34173W	probably damaging	Het
Vmn2r13	C	A	5: 109,175,049 (GRCm38)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,261 (GRCm38)	I3272T	probably benign	Het
Zfp108	A	G	7: 24,260,467 (GRCm38)	H161R	probably benign	Het
Zfp518b	A	G	5: 38,674,659 (GRCm38)	M1T	probably null	Het

Other mutations in Or8k53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Or8k53	APN	2	86,347,733 (GRCm38)	missense	possibly damaging	0.71
IGL02524:Or8k53	APN	2	86,347,342 (GRCm38)	missense	probably damaging	1.00
R0123:Or8k53	UTSW	2	86,347,728 (GRCm38)	missense	possibly damaging	0.46
R0225:Or8k53	UTSW	2	86,347,728 (GRCm38)	missense	possibly damaging	0.46
R1981:Or8k53	UTSW	2	86,347,142 (GRCm38)	missense	possibly damaging	0.94
R4181:Or8k53	UTSW	2	86,347,237 (GRCm38)	missense	probably damaging	1.00
R5011:Or8k53	UTSW	2	86,347,303 (GRCm38)	missense	probably benign	0.00
R5013:Or8k53	UTSW	2	86,347,303 (GRCm38)	missense	probably benign	0.00
R5077:Or8k53	UTSW	2	86,347,339 (GRCm38)	missense	probably benign	0.00
R6312:Or8k53	UTSW	2	86,347,581 (GRCm38)	missense	probably damaging	1.00
R6345:Or8k53	UTSW	2	86,347,548 (GRCm38)	missense	probably damaging	1.00
R6591:Or8k53	UTSW	2	86,347,419 (GRCm38)	missense	probably damaging	1.00
R6626:Or8k53	UTSW	2	86,347,020 (GRCm38)	missense	possibly damaging	0.81
R6680:Or8k53	UTSW	2	86,347,245 (GRCm38)	missense	probably damaging	1.00
R6691:Or8k53	UTSW	2	86,347,419 (GRCm38)	missense	probably damaging	1.00
R7447:Or8k53	UTSW	2	86,346,806 (GRCm38)	missense	possibly damaging	0.86
R7622:Or8k53	UTSW	2	86,347,662 (GRCm38)	missense	possibly damaging	0.61
R8114:Or8k53	UTSW	2	86,347,186 (GRCm38)	missense	probably benign	0.00
R8138:Or8k53	UTSW	2	86,347,586 (GRCm38)	missense	possibly damaging	0.81
R8242:Or8k53	UTSW	2	86,347,082 (GRCm38)	missense	probably damaging	0.99
R8260:Or8k53	UTSW	2	86,346,932 (GRCm38)	missense	possibly damaging	0.65
R8360:Or8k53	UTSW	2	86,347,324 (GRCm38)	missense	possibly damaging	0.79
R8433:Or8k53	UTSW	2	86,346,800 (GRCm38)	missense	unknown
R8927:Or8k53	UTSW	2	86,347,746 (GRCm38)	missense	possibly damaging	0.92
R8928:Or8k53	UTSW	2	86,347,746 (GRCm38)	missense	possibly damaging	0.92
R9150:Or8k53	UTSW	2	86,346,992 (GRCm38)	missense	probably damaging	0.99
R9291:Or8k53	UTSW	2	86,347,424 (GRCm38)	missense	probably benign	0.14
R9487:Or8k53	UTSW	2	86,347,502 (GRCm38)	missense	probably benign	0.10
R9712:Or8k53	UTSW	2	86,347,239 (GRCm38)	missense	probably benign	0.22
Z1176:Or8k53	UTSW	2	86,346,883 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCTGGACTGAGCACCAAATATAGGAAA -3'
(R):5'- GTGACACTGCTGATGCTTCTTATCCAT -3'

Sequencing Primer
(F):5'- TTATTAACATCTTAGGCCCCACAG -3'
(R):5'- CTCCCATTGACAGAAAAGTGTTCAG -3'

Posted On

2013-04-12