Mutagenetix > Incidental Mutation

Incidental Mutation 'R5229:Or5p54'

403663

Institutional Source

Beutler Lab

Gene Symbol

Or5p54

Ensembl Gene

ENSMUSG00000094197

Gene Name

olfactory receptor family 5 subfamily P member 54

Synonyms

GA_x6K02T2PBJ9-10283869-10284801, MOR204-20, Olfr474

MMRRC Submission

042802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107553850-107554782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107554376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 176 (H176R)

Ref Sequence

ENSEMBL: ENSMUSP00000055931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054434]

AlphaFold

Q8VFC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054434
AA Change: H176R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: H176R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.1e-39	PFAM
Pfam:7tm_1	41	290	9.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207265

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,151,183 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,667,915 (GRCm39)	I435M	possibly damaging	Het
Adcy5	A	G	16: 35,089,440 (GRCm39)	I546V	probably damaging	Het
Apob	A	G	12: 8,027,806 (GRCm39)	T10A	probably benign	Het
Brwd1	C	A	16: 95,803,409 (GRCm39)	D2254Y	possibly damaging	Het
Bub1b	C	A	2: 118,460,470 (GRCm39)	D600E	probably damaging	Het
Cnga1	A	G	5: 72,766,843 (GRCm39)	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,791,945 (GRCm39)	L483I	probably benign	Het
Depp1	T	C	6: 116,628,992 (GRCm39)	S112P	possibly damaging	Het
Dpysl3	C	A	18: 43,466,016 (GRCm39)	G457V	probably damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Epb41	C	A	4: 131,706,246 (GRCm39)	G415C	probably damaging	Het
Erap1	G	A	13: 74,808,494 (GRCm39)	V69M	possibly damaging	Het
F2	A	T	2: 91,460,586 (GRCm39)	Y301*	probably null	Het
F2rl2	A	T	13: 95,837,195 (GRCm39)	N80I	possibly damaging	Het
Fam237b	A	T	5: 5,625,565 (GRCm39)	Y87F	possibly damaging	Het
Gm15446	T	G	5: 110,091,036 (GRCm39)	H429Q	probably damaging	Het
Gpat3	G	A	5: 101,031,290 (GRCm39)	G148D	probably damaging	Het
Gpr26	A	T	7: 131,585,976 (GRCm39)	R315S	probably damaging	Het
Hdac9	A	C	12: 34,487,163 (GRCm39)	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,994,761 (GRCm39)	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,609,223 (GRCm39)	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,625,095 (GRCm39)		noncoding transcript	Het
Kdm4a	G	A	4: 118,003,802 (GRCm39)	S758F	probably damaging	Het
Lrg1	A	G	17: 56,427,154 (GRCm39)	W273R	probably damaging	Het
Man2a1	A	T	17: 65,017,729 (GRCm39)	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,671,454 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,261,321 (GRCm39)	D761G	possibly damaging	Het
Myh8	A	T	11: 67,175,310 (GRCm39)	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893 (GRCm39)	T98I	probably damaging	Het
Nrdc	T	C	4: 108,906,305 (GRCm39)	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,143,238 (GRCm39)	V80A	probably benign	Het
Or10al5	A	G	17: 38,063,192 (GRCm39)	H149R	probably benign	Het
Pdcd6ip	A	T	9: 113,507,401 (GRCm39)	M390K	probably damaging	Het
Pon1	C	T	6: 5,177,295 (GRCm39)	V205I	possibly damaging	Het
Ppp4r2	C	A	6: 100,842,176 (GRCm39)	H212Q	probably benign	Het
Pramel32	T	C	4: 88,548,372 (GRCm39)	D11G	possibly damaging	Het
Prl2c5	G	A	13: 13,360,441 (GRCm39)	C33Y	probably damaging	Het
Rbak	A	G	5: 143,159,917 (GRCm39)	F379L	probably damaging	Het
Rcc2	G	A	4: 140,444,340 (GRCm39)	D344N	probably damaging	Het
Rgs3	T	C	4: 62,620,424 (GRCm39)	L550P	probably damaging	Het
Rnasek	A	T	11: 70,130,486 (GRCm39)	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,443,520 (GRCm39)	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,365,042 (GRCm39)	F392S	probably damaging	Het
Scpep1	A	T	11: 88,827,871 (GRCm39)	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,391,080 (GRCm39)		probably null	Het
Sorbs1	A	G	19: 40,329,151 (GRCm39)	I554T	probably damaging	Het
Spats1	A	G	17: 45,777,059 (GRCm39)		probably benign	Het
Tdp1	A	G	12: 99,859,919 (GRCm39)	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,729,045 (GRCm39)	S102A	probably damaging	Het
Tspan2	T	C	3: 102,676,215 (GRCm39)	M208T	probably damaging	Het
Ube4b	A	G	4: 149,471,635 (GRCm39)	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,534,633 (GRCm39)	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Zfp65	A	T	13: 67,856,929 (GRCm39)	S117T	probably benign	Het

Other mutations in Or5p54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Or5p54	APN	7	107,554,580 (GRCm39)	missense	possibly damaging	0.48
IGL01794:Or5p54	APN	7	107,554,502 (GRCm39)	missense	probably damaging	1.00
IGL02007:Or5p54	APN	7	107,553,953 (GRCm39)	missense	probably damaging	1.00
IGL02213:Or5p54	APN	7	107,554,511 (GRCm39)	missense	probably damaging	1.00
IGL02529:Or5p54	APN	7	107,554,423 (GRCm39)	missense	possibly damaging	0.86
IGL02814:Or5p54	APN	7	107,553,977 (GRCm39)	missense	probably benign	0.00
IGL03242:Or5p54	APN	7	107,554,688 (GRCm39)	missense	possibly damaging	0.90
R0331:Or5p54	UTSW	7	107,554,077 (GRCm39)	missense	probably benign
R0409:Or5p54	UTSW	7	107,554,433 (GRCm39)	missense	probably benign	0.01
R0433:Or5p54	UTSW	7	107,554,469 (GRCm39)	missense	probably damaging	0.98
R1227:Or5p54	UTSW	7	107,554,259 (GRCm39)	missense	probably damaging	1.00
R2108:Or5p54	UTSW	7	107,554,709 (GRCm39)	missense	probably benign	0.00
R2256:Or5p54	UTSW	7	107,554,244 (GRCm39)	missense	probably damaging	1.00
R5454:Or5p54	UTSW	7	107,554,096 (GRCm39)	missense	probably benign	0.09
R5834:Or5p54	UTSW	7	107,554,113 (GRCm39)	missense	probably benign	0.01
R6002:Or5p54	UTSW	7	107,554,376 (GRCm39)	missense	probably damaging	1.00
R6046:Or5p54	UTSW	7	107,554,001 (GRCm39)	missense	probably benign
R8214:Or5p54	UTSW	7	107,554,174 (GRCm39)	missense	probably benign	0.00
R9210:Or5p54	UTSW	7	107,554,017 (GRCm39)	missense	probably benign	0.08
R9212:Or5p54	UTSW	7	107,554,017 (GRCm39)	missense	probably benign	0.08
R9385:Or5p54	UTSW	7	107,554,780 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGCTGAGCTCTGTATCAC -3'
(R):5'- CATCAGTGGAGTGCATCTTAAGG -3'

Sequencing Primer
(F):5'- GCTGCCATGGCCTATGATTGC -3'
(R):5'- CTTAAGGATGGTCATAAGTATGCAG -3'

Posted On

2016-07-22