Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Or5p54'

26054

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

038540-MU

Accession Numbers

Essential gene?

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

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107553850-107554782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107554077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 76 (L76F)

Ref Sequence

ENSEMBL: ENSMUSP00000055931 (fasta)

Gene Model

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

AlphaFold

Q8VFC9

Predicted Effect

probably benign
Transcript: ENSMUST00000054434
AA Change: L76F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: L76F

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	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
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
R5229:Or5p54	UTSW	7	107,554,376 (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'- TCCATGATGGGCAGAGGCAATAAC -3'
(R):5'- ACTGTCACCACAATAATGGAGCCAG -3'

Sequencing Primer
(F):5'- TTCATTTTGGGACCAACAGAGG -3'
(R):5'- CATCTGAGCAGGAAAGTTTCAGC -3'

Posted On

2013-04-16