Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Or5p63'

635081

Institutional Source

Beutler Lab

Gene Symbol

Or5p63

Ensembl Gene

ENSMUSG00000095929

Gene Name

olfactory receptor family 5 subfamily P member 63

Synonyms

GA_x6K02T2PBJ9-10541702-10540758, Olfr1538-ps1, MOR204-31P, MOR204-31P, Olfr487, MOR204-29P

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107810790-107811734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107811014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 241 (F241L)

Ref Sequence

ENSEMBL: ENSMUSP00000080657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081996]

AlphaFold

Q7TRU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081996
AA Change: F241L

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: F241L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	6.1e-50	PFAM
Pfam:7tm_1	44	293	1e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,163,901 (GRCm39)	H473L	probably benign	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Cpne6	T	C	14: 55,749,485 (GRCm39)	M15T	probably benign	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Pabpc2	G	A	18: 39,908,520 (GRCm39)	R595Q	probably benign	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tgm1	C	T	14: 55,942,341 (GRCm39)	G670D	probably damaging	Het
Tmc8	T	G	11: 117,682,186 (GRCm39)		probably null	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,810,911 (GRCm39)	I225K	possibly damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	Het

Other mutations in Or5p63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Or5p63	APN	7	107,810,933 (GRCm39)	missense	probably benign	0.06
IGL03133:Or5p63	APN	7	107,811,594 (GRCm39)	missense	possibly damaging	0.94
IGL03326:Or5p63	APN	7	107,810,837 (GRCm39)	missense	probably benign	0.03
R0141:Or5p63	UTSW	7	107,811,210 (GRCm39)	missense	possibly damaging	0.59
R0344:Or5p63	UTSW	7	107,810,949 (GRCm39)	nonsense	probably null
R0595:Or5p63	UTSW	7	107,810,868 (GRCm39)	missense	probably damaging	1.00
R1427:Or5p63	UTSW	7	107,811,301 (GRCm39)	missense	probably benign	0.07
R2023:Or5p63	UTSW	7	107,811,049 (GRCm39)	missense	probably damaging	1.00
R2065:Or5p63	UTSW	7	107,811,547 (GRCm39)	missense	probably damaging	0.98
R2068:Or5p63	UTSW	7	107,811,547 (GRCm39)	missense	probably damaging	0.98
R3410:Or5p63	UTSW	7	107,811,490 (GRCm39)	missense	possibly damaging	0.95
R4024:Or5p63	UTSW	7	107,810,949 (GRCm39)	nonsense	probably null
R4619:Or5p63	UTSW	7	107,811,301 (GRCm39)	missense	possibly damaging	0.78
R4738:Or5p63	UTSW	7	107,811,201 (GRCm39)	missense	probably damaging	0.99
R5004:Or5p63	UTSW	7	107,811,323 (GRCm39)	nonsense	probably null
R5684:Or5p63	UTSW	7	107,811,279 (GRCm39)	nonsense	probably null
R6782:Or5p63	UTSW	7	107,811,670 (GRCm39)	missense	probably benign	0.03
R6889:Or5p63	UTSW	7	107,811,125 (GRCm39)	missense	probably benign	0.00
R7010:Or5p63	UTSW	7	107,811,349 (GRCm39)	missense	probably damaging	0.98
R7076:Or5p63	UTSW	7	107,811,205 (GRCm39)	missense	probably damaging	1.00
R8162:Or5p63	UTSW	7	107,810,995 (GRCm39)	missense	probably damaging	1.00
R9108:Or5p63	UTSW	7	107,810,846 (GRCm39)	missense	probably damaging	1.00
R9172:Or5p63	UTSW	7	107,811,169 (GRCm39)	missense	probably benign	0.12
Z1177:Or5p63	UTSW	7	107,811,176 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAGCATCCTTAATCTCATTATTCCG -3'
(R):5'- TCTTCTGTGGCCCAAATAGG -3'

Sequencing Primer
(F):5'- CCGAAGGCTGTAGATGAGAGGATTC -3'
(R):5'- CCAAATAGGGTCAATCACTTTTTCTG -3'

Posted On

2020-07-13