Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Or5p53'

541888

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

045074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107532729-107533661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107532966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 80 (I80L)

Ref Sequence

ENSEMBL: ENSMUSP00000150610 (fasta)

Gene Model

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

AlphaFold

Q8VG44

Predicted Effect

probably benign
Transcript: ENSMUST00000084761
AA Change: I80L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081816
Gene: ENSMUSG00000095212
AA Change: I80L

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

probably benign
Transcript: ENSMUST00000217618
AA Change: I80L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fam47e	A	T	5: 92,713,911 (GRCm39)	Q180L	probably damaging	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	probably damaging	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
R4847:Or5p53	UTSW	7	107,533,034 (GRCm39)	nonsense	probably null
R5926:Or5p53	UTSW	7	107,533,110 (GRCm39)	missense	probably damaging	0.98
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'- TGAAAACCATACCACGGTGG -3'
(R):5'- CAGACTCTAGGGGACATGAGTG -3'

Sequencing Primer
(F):5'- AGGACCCCAAGCTGTGTATAGTC -3'
(R):5'- ACATGAGTGTCGAATACAGGAG -3'

Posted On

2018-11-28