Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01603:Or5p54'

92185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p54

Ensembl Gene

ENSMUSG00000094197

Gene Name

olfactory receptor family 5 subfamily P member 54

Synonyms

GA_x6K02T2PBJ9-10283869-10284801, MOR204-20, Olfr474

Accession Numbers

Essential gene?

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

Stock #

IGL01603

Quality Score

Status

Chromosome

Chromosomal Location

107553850-107554782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107554580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 244 (Y244C)

Ref Sequence

ENSEMBL: ENSMUSP00000055931 (fasta)

Gene Model

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

AlphaFold

Q8VFC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054434
AA Change: Y244C

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: Y244C

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

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	T	A	17: 32,564,327 (GRCm39)	D20V	probably damaging	Het
Akr1c12	A	G	13: 4,322,926 (GRCm39)		probably null	Het
Baiap2l1	C	T	5: 144,217,625 (GRCm39)		probably benign	Het
Baz2a	T	C	10: 127,947,037 (GRCm39)	F184L	probably damaging	Het
Cadps	T	C	14: 12,454,154 (GRCm38)		probably benign	Het
Cbr4	A	T	8: 61,956,245 (GRCm39)	*237Y	probably null	Het
Cln3	T	G	7: 126,174,526 (GRCm39)	N275T	probably benign	Het
Csf1r	A	G	18: 61,262,373 (GRCm39)	E823G	probably damaging	Het
Ctr9	C	A	7: 110,648,538 (GRCm39)	A726D	probably damaging	Het
Def6	C	T	17: 28,438,714 (GRCm39)		probably benign	Het
Dock4	T	A	12: 40,743,030 (GRCm39)	I395N	probably damaging	Het
Eln	T	C	5: 134,747,894 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,706,891 (GRCm39)	H920Q	probably damaging	Het
Glb1l3	A	G	9: 26,770,832 (GRCm39)	I78T	probably damaging	Het
Gm7275	A	T	16: 47,893,942 (GRCm39)		noncoding transcript	Het
Grm5	A	C	7: 87,252,386 (GRCm39)	Y212S	probably damaging	Het
Gtf2ird2	T	C	5: 134,231,129 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,942,175 (GRCm39)	V528A	probably damaging	Het
Hspg2	G	A	4: 137,280,114 (GRCm39)	A3168T	probably damaging	Het
Kcnj6	A	G	16: 94,634,058 (GRCm39)	S18P	probably benign	Het
Kcnq5	T	A	1: 21,575,564 (GRCm39)	K294I	possibly damaging	Het
Lama4	G	A	10: 38,941,642 (GRCm39)	G693E	possibly damaging	Het
Ldb1	A	T	19: 46,024,014 (GRCm39)	I124K	probably damaging	Het
Lrrfip1	C	T	1: 91,043,635 (GRCm39)	T680I	probably benign	Het
Lypd10	T	A	7: 24,411,954 (GRCm39)	W45R	probably damaging	Het
Map3k19	T	A	1: 127,758,010 (GRCm39)	D186V	possibly damaging	Het
Mrgprx2	T	C	7: 48,132,374 (GRCm39)	Y148C	probably damaging	Het
Muc4	G	A	16: 32,569,473 (GRCm39)	A178T	probably benign	Het
Mylip	A	C	13: 45,543,479 (GRCm39)	E16A	probably benign	Het
Nek9	A	G	12: 85,352,379 (GRCm39)	F828S	probably damaging	Het
Obscn	A	G	11: 58,928,631 (GRCm39)	F6012L	probably damaging	Het
Or14a257	A	G	7: 86,138,139 (GRCm39)	S207P	possibly damaging	Het
Or2o1	A	C	11: 49,051,438 (GRCm39)	D199A	probably damaging	Het
Pcid2	T	A	8: 13,129,936 (GRCm39)	K273N	possibly damaging	Het
Plekhm3	C	T	1: 64,960,991 (GRCm39)	D422N	probably damaging	Het
Prr12	T	C	7: 44,692,909 (GRCm39)	H1541R	probably damaging	Het
Psg26	A	C	7: 18,209,028 (GRCm39)	V460G	probably damaging	Het
Rbmxl1	G	A	8: 79,232,459 (GRCm39)	R295*	probably null	Het
Sbf1	A	T	15: 89,187,481 (GRCm39)	V690E	probably damaging	Het
Serpinb2	T	A	1: 107,449,910 (GRCm39)	S108T	probably benign	Het
Sin3b	T	C	8: 73,476,692 (GRCm39)	Y709H	probably damaging	Het
Slc17a5	A	G	9: 78,481,989 (GRCm39)	W160R	probably damaging	Het
Spef2	T	A	15: 9,704,466 (GRCm39)	D449V	probably damaging	Het
Tas2r108	C	A	6: 40,470,720 (GRCm39)	N65K	possibly damaging	Het
Tex15	T	A	8: 34,063,575 (GRCm39)	F1002I	possibly damaging	Het
Trpm5	G	A	7: 142,629,338 (GRCm39)	S942L	probably benign	Het
Tspan5	T	C	3: 138,596,517 (GRCm39)	S52P	probably damaging	Het
Uqcrfs1	T	C	13: 30,725,181 (GRCm39)	T120A	probably benign	Het
Usp6nl	T	C	2: 6,428,246 (GRCm39)	F193L	probably damaging	Het
Vmn2r26	T	A	6: 124,030,833 (GRCm39)	C523S	probably damaging	Het
Wfdc2	C	T	2: 164,405,979 (GRCm39)	P92S	probably benign	Het
Zbtb18	A	T	1: 177,275,549 (GRCm39)	H303L	probably benign	Het
Zfp174	A	T	16: 3,672,153 (GRCm39)	H234L	probably benign	Het
Zmynd12	T	C	4: 119,299,117 (GRCm39)		probably null	Het

Other mutations in Or5p54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09