Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02252:Or5p50'

286417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p50

Ensembl Gene

ENSMUSG00000095910

Gene Name

olfactory receptor family 5 subfamily P member 50

Synonyms

MOR204-21, GA_x6K02T2PBJ9-10152980-10152036, Olfr469

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

107421730-107422674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107422353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 108 (A108S)

Ref Sequence

ENSEMBL: ENSMUSP00000150486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075704] [ENSMUST00000213252]

AlphaFold

Q8VF66

Predicted Effect

probably benign
Transcript: ENSMUST00000075704
AA Change: A108S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: A108S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.3e-53	PFAM
Pfam:7tm_1	44	293	2.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213252
AA Change: A108S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216431

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,444,678 (GRCm39)		probably benign	Het
Actl7b	A	T	4: 56,741,205 (GRCm39)	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,101 (GRCm39)	I1119M	probably benign	Het
Apol10a	T	A	15: 77,372,670 (GRCm39)	V102D	probably benign	Het
Atrx	T	C	X: 104,889,429 (GRCm39)	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,584,364 (GRCm39)	S429F	possibly damaging	Het
C4bp	C	A	1: 130,564,524 (GRCm39)	D387Y	probably damaging	Het
Ceacam23	G	T	7: 17,644,457 (GRCm39)	V525F	possibly damaging	Het
Crybg3	G	T	16: 59,372,887 (GRCm39)		probably benign	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Efcab3	C	A	11: 104,644,753 (GRCm39)	R1114S	possibly damaging	Het
Elp1	G	T	4: 56,759,813 (GRCm39)	Q1151K	probably benign	Het
Fign	A	G	2: 63,810,983 (GRCm39)	S96P	probably benign	Het
Ggt5	A	G	10: 75,438,566 (GRCm39)	I96V	possibly damaging	Het
Gm3238	A	G	10: 77,606,691 (GRCm39)		probably benign	Het
Gm4792	G	T	10: 94,131,102 (GRCm39)	P69Q	unknown	Het
Ighv1-58	A	T	12: 115,275,897 (GRCm39)	N80K	possibly damaging	Het
Irgm1	C	T	11: 48,756,981 (GRCm39)	G277S	possibly damaging	Het
Jsrp1	A	G	10: 80,644,707 (GRCm39)	V233A	probably benign	Het
Kcp	T	A	6: 29,504,548 (GRCm39)	R85W	probably damaging	Het
Kif14	T	C	1: 136,406,130 (GRCm39)	Y565H	probably damaging	Het
Klk1b4	G	A	7: 43,860,094 (GRCm39)	W69*	probably null	Het
Knl1	A	T	2: 118,903,021 (GRCm39)	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,824,613 (GRCm39)	N232D	probably benign	Het
Lipn	A	G	19: 34,049,157 (GRCm39)	I108V	probably benign	Het
Lrrc49	T	A	9: 60,595,142 (GRCm39)	M1L	probably benign	Het
Matn2	G	T	15: 34,316,736 (GRCm39)	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523 (GRCm39)	D440N	probably damaging	Het
Mn1	G	A	5: 111,569,107 (GRCm39)	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 46,984,912 (GRCm39)	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869 (GRCm39)	E148D	probably benign	Het
Mylk3	G	T	8: 86,082,105 (GRCm39)	L361I	probably benign	Het
Nlrp12	A	G	7: 3,293,980 (GRCm39)	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378 (GRCm39)	E870G	probably benign	Het
Oplah	T	C	15: 76,188,964 (GRCm39)	T320A	probably damaging	Het
Or7g34	T	A	9: 19,478,267 (GRCm39)	I138F	probably damaging	Het
Pard3	T	G	8: 128,125,237 (GRCm39)	S729A	probably benign	Het
Pdzd9	T	C	7: 120,262,238 (GRCm39)	I75V	probably benign	Het
Pgf	A	G	12: 85,216,199 (GRCm39)		probably benign	Het
Phf1	T	A	17: 27,154,109 (GRCm39)	V140D	possibly damaging	Het
Pkd1l3	T	C	8: 110,357,708 (GRCm39)	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,085,515 (GRCm39)	T85S	probably damaging	Het
Sez6	T	A	11: 77,865,339 (GRCm39)	Y659N	probably damaging	Het
Sfmbt1	T	C	14: 30,539,690 (GRCm39)	L826P	probably damaging	Het
Sftpd	T	A	14: 40,894,471 (GRCm39)	D316V	probably damaging	Het
Shc2	T	C	10: 79,462,204 (GRCm39)	D313G	probably benign	Het
Snrk	T	C	9: 121,986,326 (GRCm39)	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,484,452 (GRCm39)	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,302,841 (GRCm39)	N783K	probably damaging	Het
Stag3	A	T	5: 138,300,810 (GRCm39)	I923F	probably damaging	Het
Tep1	T	A	14: 51,067,712 (GRCm39)	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,539,991 (GRCm39)	N339I	possibly damaging	Het
Trim34b	A	G	7: 103,979,139 (GRCm39)	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,785,994 (GRCm39)	L664P	probably damaging	Het
Ubl5	C	T	9: 20,556,923 (GRCm39)	R56*	probably null	Het
Ubox5	G	A	2: 130,441,707 (GRCm39)	R327W	probably damaging	Het
Ubr5	G	T	15: 38,025,138 (GRCm39)	A546E	probably damaging	Het
Umodl1	T	C	17: 31,213,789 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,982,717 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,101 (GRCm39)	T73I	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,606,531 (GRCm39)	Y272H	probably benign	Het
Wdr43	T	A	17: 71,933,845 (GRCm39)	D147E	probably damaging	Het
Zfp352	A	T	4: 90,112,367 (GRCm39)	D169V	probably benign	Het
Zim1	A	T	7: 6,691,627 (GRCm39)	N15K	unknown	Het

Other mutations in Or5p50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02205:Or5p50	APN	7	107,421,798 (GRCm39)	missense	probably damaging	1.00
R0365:Or5p50	UTSW	7	107,422,124 (GRCm39)	nonsense	probably null
R0647:Or5p50	UTSW	7	107,422,218 (GRCm39)	missense	probably benign	0.02
R0863:Or5p50	UTSW	7	107,422,581 (GRCm39)	missense	probably benign
R1830:Or5p50	UTSW	7	107,422,578 (GRCm39)	missense	probably benign	0.02
R2189:Or5p50	UTSW	7	107,421,822 (GRCm39)	missense	probably benign	0.09
R2316:Or5p50	UTSW	7	107,422,007 (GRCm39)	missense	probably benign	0.25
R6187:Or5p50	UTSW	7	107,421,781 (GRCm39)	missense	probably benign
R6305:Or5p50	UTSW	7	107,421,864 (GRCm39)	missense	probably benign	0.01
R6774:Or5p50	UTSW	7	107,422,395 (GRCm39)	missense	probably benign	0.06
R7019:Or5p50	UTSW	7	107,422,365 (GRCm39)	missense	probably benign	0.04
R7205:Or5p50	UTSW	7	107,421,782 (GRCm39)	missense	probably benign	0.01
R7466:Or5p50	UTSW	7	107,422,129 (GRCm39)	nonsense	probably null
R8128:Or5p50	UTSW	7	107,422,632 (GRCm39)	missense	probably damaging	1.00
R8251:Or5p50	UTSW	7	107,421,776 (GRCm39)	missense	probably damaging	0.98
R8252:Or5p50	UTSW	7	107,421,776 (GRCm39)	missense	probably damaging	0.98
R8253:Or5p50	UTSW	7	107,421,776 (GRCm39)	missense	probably damaging	0.98
R8791:Or5p50	UTSW	7	107,422,557 (GRCm39)	missense	possibly damaging	0.64
R9008:Or5p50	UTSW	7	107,422,628 (GRCm39)	missense	possibly damaging	0.53
R9381:Or5p50	UTSW	7	107,421,812 (GRCm39)	missense	probably damaging	1.00
R9509:Or5p50	UTSW	7	107,422,440 (GRCm39)	missense	probably benign
Z1176:Or5p50	UTSW	7	107,422,200 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16