Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02484:Or5p68'

295343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p68

Ensembl Gene

ENSMUSG00000093980

Gene Name

olfactory receptor family 5 subfamily P member 68

Synonyms

MOR204-35, GA_x6K02T2PBJ9-10676998-10676054, Olfr493

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02484

Quality Score

Status

Chromosome

Chromosomal Location

107945242-107946186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107945813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 125 (R125Q)

Ref Sequence

ENSEMBL: ENSMUSP00000079005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080106]

AlphaFold

Q8VEW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000080106
AA Change: R125Q

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

SMART Domains

Protein: ENSMUSP00000079005
Gene: ENSMUSG00000093980
AA Change: R125Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	7.1e-55	PFAM
Pfam:7tm_1	44	293	1.1e-22	PFAM

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	C	7: 29,262,777 (GRCm39)		noncoding transcript	Het
Araf	A	G	X: 20,720,148 (GRCm39)		probably benign	Het
Arrb2	T	A	11: 70,330,300 (GRCm39)	V308E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Astn2	G	A	4: 65,910,516 (GRCm39)		probably benign	Het
Cactin	T	A	10: 81,158,808 (GRCm39)	I258N	probably benign	Het
Calhm6	T	C	10: 34,002,400 (GRCm39)	T228A	probably benign	Het
Catsperg1	T	C	7: 28,910,345 (GRCm39)		probably benign	Het
Ccna1	C	T	3: 54,955,915 (GRCm39)	D146N	probably benign	Het
Chrna3	T	C	9: 54,922,821 (GRCm39)	Y329C	probably damaging	Het
Ctps2	G	A	X: 161,693,005 (GRCm39)	G56D	probably damaging	Het
Cyp4b1	T	C	4: 115,504,754 (GRCm39)	D44G	probably benign	Het
D3Ertd751e	A	G	3: 41,708,155 (GRCm39)		probably null	Het
Daxx	T	C	17: 34,131,216 (GRCm39)	V381A	probably damaging	Het
Dhx37	T	A	5: 125,496,401 (GRCm39)	I714F	possibly damaging	Het
Dnah7b	T	C	1: 46,234,478 (GRCm39)	V1470A	probably damaging	Het
Efl1	T	C	7: 82,332,247 (GRCm39)	I297T	probably damaging	Het
Fnd3c2	A	T	X: 105,289,092 (GRCm39)	H442Q	probably damaging	Het
Glp2r	A	C	11: 67,630,992 (GRCm39)	V126G	possibly damaging	Het
Gm5699	G	T	1: 31,037,843 (GRCm39)		noncoding transcript	Het
Gpt2	A	G	8: 86,242,862 (GRCm39)	D298G	probably damaging	Het
Gse1	G	T	8: 121,302,001 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,420 (GRCm39)	T65A	probably benign	Het
Ints8	G	A	4: 11,208,834 (GRCm39)	Q955*	probably null	Het
Lrguk	C	T	6: 34,069,726 (GRCm39)	P534S	probably damaging	Het
Lrp6	A	G	6: 134,518,886 (GRCm39)	F60L	probably benign	Het
Mamld1	T	C	X: 70,162,258 (GRCm39)	I423T	possibly damaging	Het
Mrpl22	G	A	11: 58,063,888 (GRCm39)	S36N	possibly damaging	Het
Mug2	A	G	6: 122,049,712 (GRCm39)	E915G	probably damaging	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or5b94	T	C	19: 12,652,223 (GRCm39)	F218S	possibly damaging	Het
Pde4c	T	A	8: 71,200,701 (GRCm39)		probably benign	Het
Pdxdc1	T	C	16: 13,693,945 (GRCm39)	E159G	possibly damaging	Het
Poln	T	C	5: 34,286,721 (GRCm39)	E149G	probably damaging	Het
Pou5f2	T	G	13: 78,174,024 (GRCm39)	L322R	probably damaging	Het
Ppm1k	A	T	6: 57,501,997 (GRCm39)	S55R	possibly damaging	Het
Ptges2	T	A	2: 32,287,719 (GRCm39)	I149N	probably damaging	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Raet1e	A	T	10: 22,056,666 (GRCm39)	M81L	probably benign	Het
Sipa1l3	A	G	7: 29,098,956 (GRCm39)	S438P	probably damaging	Het
Skint5	T	A	4: 113,799,750 (GRCm39)	K126*	probably null	Het
Stfa2	T	C	16: 36,225,569 (GRCm39)	T37A	probably damaging	Het
Ttll12	A	G	15: 83,465,897 (GRCm39)	I433T	possibly damaging	Het
Vmn2r32	C	T	7: 7,467,116 (GRCm39)	G804D	probably damaging	Het
Zc3h14	A	G	12: 98,740,560 (GRCm39)	T84A	probably benign	Het

Other mutations in Or5p68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Or5p68	APN	7	107,946,156 (GRCm39)	missense	probably benign	0.00
IGL02087:Or5p68	APN	7	107,946,173 (GRCm39)	missense	probably benign
IGL02961:Or5p68	APN	7	107,945,334 (GRCm39)	missense	probably benign	0.08
IGL03379:Or5p68	APN	7	107,946,196 (GRCm39)	unclassified	probably benign
PIT4486001:Or5p68	UTSW	7	107,945,529 (GRCm39)	missense	possibly damaging	0.95
R0281:Or5p68	UTSW	7	107,946,121 (GRCm39)	missense	probably benign	0.00
R0285:Or5p68	UTSW	7	107,945,706 (GRCm39)	missense	probably benign	0.02
R1222:Or5p68	UTSW	7	107,945,313 (GRCm39)	missense	probably damaging	1.00
R1912:Or5p68	UTSW	7	107,946,014 (GRCm39)	missense	probably damaging	0.98
R4178:Or5p68	UTSW	7	107,945,765 (GRCm39)	missense	probably benign	0.00
R5239:Or5p68	UTSW	7	107,945,853 (GRCm39)	missense	probably benign	0.03
R5421:Or5p68	UTSW	7	107,946,182 (GRCm39)	missense	probably benign	0.00
R5452:Or5p68	UTSW	7	107,945,312 (GRCm39)	missense	probably damaging	1.00
R6991:Or5p68	UTSW	7	107,945,295 (GRCm39)	missense	possibly damaging	0.92
R7372:Or5p68	UTSW	7	107,945,703 (GRCm39)	missense	probably benign	0.00
R7374:Or5p68	UTSW	7	107,946,095 (GRCm39)	missense	probably damaging	1.00
R7571:Or5p68	UTSW	7	107,945,689 (GRCm39)	missense	probably benign	0.00
R8232:Or5p68	UTSW	7	107,945,495 (GRCm39)	missense	probably damaging	0.97
R8354:Or5p68	UTSW	7	107,945,889 (GRCm39)	missense	probably damaging	1.00
R8454:Or5p68	UTSW	7	107,945,889 (GRCm39)	missense	probably damaging	1.00
R8914:Or5p68	UTSW	7	107,945,759 (GRCm39)	missense	probably benign	0.01
R9087:Or5p68	UTSW	7	107,945,958 (GRCm39)	missense	probably damaging	1.00
R9258:Or5p68	UTSW	7	107,945,886 (GRCm39)	missense	probably benign	0.21
R9608:Or5p68	UTSW	7	107,945,513 (GRCm39)	missense	probably damaging	1.00
R9751:Or5p68	UTSW	7	107,945,645 (GRCm39)	missense	probably benign	0.02
X0025:Or5p68	UTSW	7	107,945,808 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16