Mutagenetix > Incidental Mutation

Incidental Mutation 'R4847:Or5p53'

373308

Institutional Source

Beutler Lab

Gene Symbol

Or5p53

Ensembl Gene

ENSMUSG00000095212

Gene Name

olfactory receptor family 5 subfamily P member 53

Synonyms

GA_x6K02T2PBJ9-10262759-10263691, Olfr473, MOR204-4

MMRRC Submission

042460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107532729-107533661 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 107533034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 102 (C102*)

Ref Sequence

ENSEMBL: ENSMUSP00000150610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084761] [ENSMUST00000217618]

AlphaFold

Q8VG44

Predicted Effect

probably null
Transcript: ENSMUST00000084761
AA Change: C102*

SMART Domains

Protein: ENSMUSP00000081816
Gene: ENSMUSG00000095212
AA Change: C102*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	6.4e-49	PFAM
Pfam:7tm_1	41	290	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210626
AA Change: C102*

Predicted Effect

probably null
Transcript: ENSMUST00000217618
AA Change: C102*

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	C	T	11: 80,264,940 (GRCm39)	V171M	probably damaging	Het
Abhd3	A	G	18: 10,647,786 (GRCm39)	S328P	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aldh1b1	G	T	4: 45,802,625 (GRCm39)	K54N	possibly damaging	Het
Amacr	C	T	15: 10,994,958 (GRCm39)	Q257*	probably null	Het
Ankrd12	A	T	17: 66,331,087 (GRCm39)	D309E	probably benign	Het
Anks6	T	C	4: 47,033,266 (GRCm39)	T600A	probably benign	Het
Ap3b1	A	G	13: 94,608,287 (GRCm39)	E586G	probably benign	Het
Atad2b	A	G	12: 4,994,901 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,300,936 (GRCm39)	Q240*	probably null	Het
Cep152	T	C	2: 125,460,394 (GRCm39)	Y186C	possibly damaging	Het
Cep76	C	A	18: 67,752,639 (GRCm39)	R603I	probably benign	Het
Chad	T	C	11: 94,459,153 (GRCm39)	S352P	probably benign	Het
Ckap2	T	C	8: 22,665,084 (GRCm39)	E460G	probably damaging	Het
Col22a1	T	C	15: 71,671,348 (GRCm39)	Y1004C	unknown	Het
Col9a3	G	A	2: 180,257,318 (GRCm39)	G480S	probably damaging	Het
Cpsf2	A	G	12: 101,963,561 (GRCm39)	D430G	probably benign	Het
Cramp1	T	C	17: 25,204,063 (GRCm39)	D305G	probably damaging	Het
Ctnnd1	C	A	2: 84,452,396 (GRCm39)	E76*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c39	A	T	19: 39,549,340 (GRCm39)	N286I	probably damaging	Het
Ddx11	A	G	17: 66,437,796 (GRCm39)	E174G	probably damaging	Het
Ddx19a	T	C	8: 111,703,677 (GRCm39)	E369G	probably damaging	Het
Dnai7	T	A	6: 145,120,911 (GRCm39)	H636L	probably damaging	Het
Epha1	T	A	6: 42,338,848 (GRCm39)	D687V	possibly damaging	Het
Fgr	T	C	4: 132,721,959 (GRCm39)	W132R	probably damaging	Het
Fras1	A	T	5: 96,692,851 (GRCm39)	D170V	possibly damaging	Het
Gas2l1	A	G	11: 5,014,173 (GRCm39)	S96P	probably damaging	Het
Gfy	G	A	7: 44,827,020 (GRCm39)	P359S	probably damaging	Het
Hexim2	A	G	11: 103,029,767 (GRCm39)	N273S	probably benign	Het
Hr	A	T	14: 70,793,916 (GRCm39)	T59S	probably benign	Het
Ift70a2	A	T	2: 75,808,058 (GRCm39)	N151K	probably benign	Het
Impdh2	A	G	9: 108,441,870 (GRCm39)	Y166C	probably damaging	Het
Impdh2	T	A	9: 108,442,714 (GRCm39)	F514Y	probably benign	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Klhl17	A	T	4: 156,316,054 (GRCm39)	H433Q	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	A	C	5: 123,940,337 (GRCm39)	N1645T	probably benign	Het
Mcm8	A	G	2: 132,661,923 (GRCm39)	I114V	probably benign	Het
Mink1	T	A	11: 70,492,854 (GRCm39)	L160Q	probably damaging	Het
Mipol1	A	T	12: 57,350,282 (GRCm39)	S27C	probably damaging	Het
Mthfr	T	C	4: 148,132,596 (GRCm39)	V217A	probably damaging	Het
Or5b105	A	G	19: 13,079,898 (GRCm39)	Y257H	probably damaging	Het
Pde1c	T	C	6: 56,100,019 (GRCm39)	K614E	possibly damaging	Het
Pds5b	A	T	5: 150,671,577 (GRCm39)	E407V	probably damaging	Het
Pdzph1	A	G	17: 59,280,525 (GRCm39)	S586P	possibly damaging	Het
Prkcb	C	T	7: 122,167,372 (GRCm39)	R361W	probably benign	Het
Psen2	T	A	1: 180,073,197 (GRCm39)		probably null	Het
Ptk2	T	A	15: 73,103,805 (GRCm39)	M82L	probably benign	Het
Ptk2b	T	C	14: 66,411,331 (GRCm39)	D400G	probably damaging	Het
Samd8	G	A	14: 21,842,503 (GRCm39)	R275Q	possibly damaging	Het
Senp2	A	G	16: 21,857,386 (GRCm39)	T403A	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Skap2	T	A	6: 51,980,649 (GRCm39)	I52L	probably benign	Het
Slc5a7	T	C	17: 54,584,168 (GRCm39)	D374G	possibly damaging	Het
Slmap	A	T	14: 26,147,763 (GRCm39)	L699M	possibly damaging	Het
Sntg1	A	C	1: 8,665,706 (GRCm39)	C203G	possibly damaging	Het
Stard9	T	C	2: 120,533,594 (GRCm39)	S3284P	probably benign	Het
Tbx21	T	C	11: 97,005,857 (GRCm39)	Y36C	probably damaging	Het
Tecpr2	A	G	12: 110,906,311 (GRCm39)	Y971C	probably damaging	Het
Trpm5	T	A	7: 142,641,500 (GRCm39)	I137F	possibly damaging	Het
Unk	A	G	11: 115,945,232 (GRCm39)	K426E	probably damaging	Het
Zc3hc1	T	C	6: 30,375,981 (GRCm39)	D193G	probably benign	Het

Other mutations in Or5p53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Or5p53	APN	7	107,533,484 (GRCm39)	nonsense	probably null
IGL02361:Or5p53	APN	7	107,533,484 (GRCm39)	nonsense	probably null
IGL03228:Or5p53	APN	7	107,533,330 (GRCm39)	missense	possibly damaging	0.94
R0255:Or5p53	UTSW	7	107,533,375 (GRCm39)	missense	probably damaging	0.96
R0306:Or5p53	UTSW	7	107,532,907 (GRCm39)	missense	probably damaging	1.00
R1126:Or5p53	UTSW	7	107,533,578 (GRCm39)	missense	possibly damaging	0.76
R1313:Or5p53	UTSW	7	107,532,975 (GRCm39)	missense	probably benign	0.01
R1313:Or5p53	UTSW	7	107,532,975 (GRCm39)	missense	probably benign	0.01
R1860:Or5p53	UTSW	7	107,533,597 (GRCm39)	missense	probably damaging	1.00
R2060:Or5p53	UTSW	7	107,532,868 (GRCm39)	missense	probably benign	0.00
R2386:Or5p53	UTSW	7	107,533,480 (GRCm39)	missense	probably damaging	0.99
R4324:Or5p53	UTSW	7	107,532,900 (GRCm39)	missense	probably damaging	1.00
R5926:Or5p53	UTSW	7	107,533,110 (GRCm39)	missense	probably damaging	0.98
R6964:Or5p53	UTSW	7	107,532,966 (GRCm39)	missense	probably benign	0.00
R8024:Or5p53	UTSW	7	107,533,645 (GRCm39)	missense	probably benign	0.00
R8377:Or5p53	UTSW	7	107,532,892 (GRCm39)	missense	probably damaging	1.00
R9327:Or5p53	UTSW	7	107,533,019 (GRCm39)	nonsense	probably null
X0063:Or5p53	UTSW	7	107,533,552 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACCCCAAGCTGTGTATAG -3'
(R):5'- ATGTCCAACCATTCATGCAGCC -3'

Sequencing Primer
(F):5'- GGCAATATCAGCATCATCACGTTG -3'
(R):5'- TTCATGCAGCCACCAACATAGG -3'

Posted On

2016-03-01