Mutagenetix > Incidental Mutation

Incidental Mutation 'R4024:Or5p63'

313396

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

041612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107810790-107811734 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107810949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 262 (Y262*)

Ref Sequence

ENSEMBL: ENSMUSP00000149407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081996] [ENSMUST00000216489]

AlphaFold

Q7TRU9

Predicted Effect

probably null
Transcript: ENSMUST00000081996
AA Change: Y262*

SMART Domains

Protein: ENSMUSP00000080657
Gene: ENSMUSG00000095929
AA Change: Y262*

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

Predicted Effect

probably null
Transcript: ENSMUST00000216489
AA Change: Y262*

Meta Mutation Damage Score

0.9658

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (58/59)

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
Actn1	A	G	12: 80,215,251 (GRCm39)	Y842H	probably damaging	Het
Adamts9	A	G	6: 92,849,765 (GRCm39)		probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Aoc1	A	T	6: 48,885,203 (GRCm39)	N646I	probably damaging	Het
Armc2	A	G	10: 41,869,054 (GRCm39)	S37P	probably benign	Het
Bhmt2	G	A	13: 93,799,839 (GRCm39)		probably benign	Het
Bpifb1	A	T	2: 154,054,966 (GRCm39)	D286V	probably damaging	Het
Cadps	T	A	14: 12,705,539 (GRCm38)	E285D	probably damaging	Het
Cap2	C	T	13: 46,791,317 (GRCm39)		probably benign	Het
Clcn4	T	G	7: 7,293,427 (GRCm39)	Y443S	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Cmip	A	G	8: 118,174,155 (GRCm39)	I412V	possibly damaging	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Colec10	A	G	15: 54,325,947 (GRCm39)	D259G	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Dzank1	T	C	2: 144,324,147 (GRCm39)	S565G	probably benign	Het
Eef2k	A	G	7: 120,457,821 (GRCm39)	Y60C	probably benign	Het
Fbxl4	T	C	4: 22,377,074 (GRCm39)	V170A	possibly damaging	Het
Foxk2	T	A	11: 121,176,439 (GRCm39)	I195N	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gpr6	G	A	10: 40,947,264 (GRCm39)	T106M	probably damaging	Het
Grk3	T	A	5: 113,062,850 (GRCm39)	N666Y	possibly damaging	Het
Hnmt	T	C	2: 23,893,777 (GRCm39)	D239G	probably benign	Het
Igf2	A	G	7: 142,208,044 (GRCm39)	V111A	probably benign	Het
Lrriq3	G	A	3: 154,893,939 (GRCm39)	E547K	probably benign	Het
Lrriq4	T	C	3: 30,704,422 (GRCm39)	V150A	possibly damaging	Het
Mroh8	A	G	2: 157,098,272 (GRCm39)	V292A	probably benign	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Nisch	A	G	14: 30,898,776 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,026,154 (GRCm39)	T195A	probably benign	Het
Or10aa3	C	T	1: 173,878,683 (GRCm39)	T248I	probably benign	Het
Or2t47	G	A	11: 58,442,222 (GRCm39)	T281I	possibly damaging	Het
Or8w1	T	A	2: 87,465,499 (GRCm39)	L197F	probably damaging	Het
Plekhn1	A	G	4: 156,309,207 (GRCm39)	V233A	probably damaging	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Sash1	T	C	10: 8,605,681 (GRCm39)	D903G	probably benign	Het
Scn8a	A	G	15: 100,937,674 (GRCm39)	D1681G	probably damaging	Het
Slk	A	G	19: 47,610,809 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tlr11	C	T	14: 50,600,303 (GRCm39)	T763I	probably benign	Het
Ttbk2	T	C	2: 120,590,736 (GRCm39)	T308A	possibly damaging	Het
Tyk2	G	A	9: 21,027,215 (GRCm39)	L552F	probably damaging	Het
Ubp1	A	G	9: 113,773,951 (GRCm39)	D50G	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ulk4	A	T	9: 120,873,915 (GRCm39)	I1172N	possibly damaging	Het
Usf3	T	A	16: 44,036,528 (GRCm39)	V336E	possibly damaging	Het
Vangl2	T	C	1: 171,835,608 (GRCm39)	S355G	probably benign	Het
Vmn1r216	A	G	13: 23,284,061 (GRCm39)	D248G	probably damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r120	T	A	17: 57,843,718 (GRCm39)	D42V	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,671 (GRCm39)	S685T	possibly damaging	Het
Vsig10l	T	C	7: 43,117,510 (GRCm39)	V701A	probably benign	Het
Wdfy3	A	G	5: 102,071,961 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,544 (GRCm39)	C258S	possibly damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	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
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
R8190:Or5p63	UTSW	7	107,811,014 (GRCm39)	missense	possibly damaging	0.80
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'- GTTTTACCAACAACTGACTGCTC -3'
(R):5'- ACTCTCCTGTTCTGATGTGAGTATC -3'

Sequencing Primer
(F):5'- ACAACTGACTGCTCTATAACAATG -3'
(R):5'- AATTGTTATCTCATTTTCTGCAGGC -3'

Posted On

2015-04-30