Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Or5p4'

638795

Institutional Source

Beutler Lab

Gene Symbol

Or5p4

Ensembl Gene

ENSMUSG00000054236

Gene Name

olfactory receptor family 5 subfamily P member 4

Synonyms

MOR204-39, MOR204-2, Olfr481, GA_x6K02T2PBJ9-10409785-10410723

MMRRC Submission

067783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107680003-107680941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107680269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 89 (E89D)

Ref Sequence

ENSEMBL: ENSMUSP00000063555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067143]

AlphaFold

Q8VGI5

Predicted Effect

probably benign
Transcript: ENSMUST00000067143
AA Change: E89D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: E89D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.5e-51	PFAM
Pfam:7tm_1	41	290	1.4e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,864 (GRCm39)	S105P	possibly damaging	Het
Acsm1	T	G	7: 119,237,319 (GRCm39)	S211A	possibly damaging	Het
Adam4	T	A	12: 81,467,185 (GRCm39)	R479*	probably null	Het
Agap3	A	C	5: 24,692,883 (GRCm39)	S439R	probably damaging	Het
Arap1	A	T	7: 101,050,141 (GRCm39)	H1075L	probably benign	Het
Arhgef28	T	C	13: 98,079,029 (GRCm39)	E1299G	probably benign	Het
Bnip5	T	C	17: 29,121,864 (GRCm39)	K468E	probably benign	Het
Cc2d2a	A	T	5: 43,845,570 (GRCm39)	I329F	probably damaging	Het
Ccdc9b	T	A	2: 118,591,796 (GRCm39)	T115S	probably damaging	Het
Cd200r1	A	G	16: 44,610,084 (GRCm39)	N101S	probably benign	Het
Ces2b	A	C	8: 105,559,258 (GRCm39)	T40P	unknown	Het
Cfap221	A	G	1: 119,909,504 (GRCm39)	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,758,563 (GRCm39)	P324S	probably benign	Het
Chrna1	T	A	2: 73,400,850 (GRCm39)	M227L	probably benign	Het
Cntln	A	G	4: 84,952,075 (GRCm39)	D639G	probably damaging	Het
Cts8	A	G	13: 61,401,882 (GRCm39)	V5A	probably benign	Het
Cxcl2	A	T	5: 91,052,088 (GRCm39)	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,552,411 (GRCm39)	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,147,939 (GRCm39)	S205T	probably benign	Het
Dagla	A	T	19: 10,229,401 (GRCm39)		probably null	Het
Dtnbp1	G	A	13: 45,084,615 (GRCm39)	T175I	probably benign	Het
Dtx3	A	G	10: 127,026,882 (GRCm39)	L332P	probably damaging	Het
E2f4	A	G	8: 106,024,451 (GRCm39)	T27A	probably damaging	Het
Ep400	A	G	5: 110,856,758 (GRCm39)	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fbxo40	T	C	16: 36,790,387 (GRCm39)	D241G	probably benign	Het
Fus	T	C	7: 127,571,749 (GRCm39)	S184P	unknown	Het
Gabarap	C	A	11: 69,883,498 (GRCm39)	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,372,235 (GRCm39)	V175G	probably damaging	Het
Gcm2	A	G	13: 41,256,646 (GRCm39)	Y368H	probably damaging	Het
Heca	A	G	10: 17,778,011 (GRCm39)	Y529H	probably damaging	Het
Incenp	G	A	19: 9,852,497 (GRCm39)	R714*	probably null	Het
Lvrn	C	A	18: 46,983,632 (GRCm39)	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,455,660 (GRCm39)	S156R	probably benign	Het
Nab2	C	A	10: 127,502,266 (GRCm39)	R21L	possibly damaging	Het
Neb	A	T	2: 52,136,827 (GRCm39)	M3218K	probably benign	Het
Nwd2	A	G	5: 63,962,663 (GRCm39)	D749G	probably benign	Het
Nxpe5	A	T	5: 138,228,804 (GRCm39)	Q7L	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or4f62	A	T	2: 111,986,598 (GRCm39)	M101L	probably benign	Het
Or8g26	A	G	9: 39,095,689 (GRCm39)	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,531,917 (GRCm39)	I29T	probably damaging	Het
Prpf31	C	T	7: 3,643,917 (GRCm39)	T499I	probably damaging	Het
Rnf130	T	A	11: 49,986,623 (GRCm39)	D322E	probably benign	Het
Ros1	T	C	10: 51,964,014 (GRCm39)	N1770D	probably damaging	Het
Sacs	T	A	14: 61,428,548 (GRCm39)	D202E	probably damaging	Het
Simc1	A	G	13: 54,674,359 (GRCm39)	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,361,348 (GRCm39)	M77L	probably benign	Het
Slc35f2	G	A	9: 53,724,224 (GRCm39)	G366D	probably benign	Het
Slc44a2	A	G	9: 21,264,984 (GRCm39)	D674G	probably damaging	Het
Smok2a	A	C	17: 13,445,791 (GRCm39)	E456A	probably benign	Het
Stip1	T	C	19: 7,011,618 (GRCm39)	N139S	probably benign	Het
Taar8c	C	T	10: 23,977,015 (GRCm39)	V266M	probably benign	Het
Tank	T	A	2: 61,474,758 (GRCm39)	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,694,020 (GRCm39)	T714A	probably benign	Het
Tenm3	A	T	8: 48,820,457 (GRCm39)	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Vps13a	A	T	19: 16,645,969 (GRCm39)	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,696,218 (GRCm39)	H2741R		Het
Wnt10a	G	T	1: 74,842,376 (GRCm39)	R284L	probably damaging	Het

Other mutations in Or5p4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Or5p4	APN	7	107,680,411 (GRCm39)	missense	probably benign	0.18
IGL01570:Or5p4	APN	7	107,680,480 (GRCm39)	missense	probably benign	0.38
IGL02619:Or5p4	APN	7	107,680,949 (GRCm39)	utr 3 prime	probably benign
IGL03175:Or5p4	APN	7	107,680,925 (GRCm39)	missense	probably benign
R0401:Or5p4	UTSW	7	107,680,079 (GRCm39)	missense	possibly damaging	0.81
R0932:Or5p4	UTSW	7	107,680,727 (GRCm39)	missense	probably damaging	1.00
R1679:Or5p4	UTSW	7	107,680,859 (GRCm39)	missense	probably damaging	1.00
R2189:Or5p4	UTSW	7	107,680,243 (GRCm39)	missense	possibly damaging	0.47
R3804:Or5p4	UTSW	7	107,680,378 (GRCm39)	missense	probably damaging	1.00
R4532:Or5p4	UTSW	7	107,680,756 (GRCm39)	missense	probably benign	0.18
R4932:Or5p4	UTSW	7	107,680,781 (GRCm39)	missense	probably damaging	0.99
R5630:Or5p4	UTSW	7	107,680,323 (GRCm39)	missense	probably benign	0.05
R6155:Or5p4	UTSW	7	107,680,493 (GRCm39)	missense	probably benign	0.00
R6523:Or5p4	UTSW	7	107,680,762 (GRCm39)	missense	probably benign	0.34
R6987:Or5p4	UTSW	7	107,680,338 (GRCm39)	nonsense	probably null
R7378:Or5p4	UTSW	7	107,680,399 (GRCm39)	missense	not run
R7609:Or5p4	UTSW	7	107,680,753 (GRCm39)	missense	probably damaging	0.99
R9322:Or5p4	UTSW	7	107,680,727 (GRCm39)	missense	probably damaging	1.00
R9449:Or5p4	UTSW	7	107,680,040 (GRCm39)	missense
R9659:Or5p4	UTSW	7	107,680,745 (GRCm39)	missense	probably damaging	1.00
R9788:Or5p4	UTSW	7	107,680,745 (GRCm39)	missense	probably damaging	1.00
V8831:Or5p4	UTSW	7	107,680,742 (GRCm39)	missense	probably benign	0.24
Z1177:Or5p4	UTSW	7	107,680,279 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAGTGCTACACTACGTGCTATC -3'
(R):5'- TGCATCCACCCAAATAGGATGC -3'

Sequencing Primer
(F):5'- ACACTACGTGCTATCTTATTTGTG -3'
(R):5'- CAAATAGGATGCCCCGAGC -3'

Posted On

2020-07-28