Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03084:Or5c1'

417998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5c1

Ensembl Gene

ENSMUSG00000049018

Gene Name

olfactory receptor family 5 subfamily C member 1

Synonyms

GA_x6K02T2NLDC-34015743-34016726, Olfr368, MOR178-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL03084

Quality Score

Status

Chromosome

Chromosomal Location

37221761-37222744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37222413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 218 (I218T)

Ref Sequence

ENSEMBL: ENSMUSP00000149348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053990] [ENSMUST00000217299]

AlphaFold

Q8VF22

Predicted Effect

probably damaging
Transcript: ENSMUST00000053990
AA Change: I218T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054082
Gene: ENSMUSG00000049018
AA Change: I218T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	2.2e-45	PFAM
Pfam:7tm_1	45	294	1.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217299
AA Change: I218T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,768,261 (GRCm39)	V211L	probably damaging	Het
BC024139	T	C	15: 76,004,007 (GRCm39)	D753G	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cachd1	T	A	4: 100,860,285 (GRCm39)	D1285E	probably damaging	Het
Cacna1b	T	C	2: 24,499,944 (GRCm39)	T147A	probably benign	Het
Cdc14a	A	G	3: 116,142,101 (GRCm39)		probably null	Het
Cfhr4	T	A	1: 139,708,880 (GRCm39)	L9F	possibly damaging	Het
Chd1	A	G	17: 15,990,560 (GRCm39)	H1704R	probably benign	Het
Dmkn	T	G	7: 30,470,481 (GRCm39)	N367K	possibly damaging	Het
Fam151b	C	A	13: 92,604,534 (GRCm39)	D152Y	probably damaging	Het
Gabrg3	T	C	7: 56,384,812 (GRCm39)	S250G	possibly damaging	Het
Gm28042	A	G	2: 119,870,986 (GRCm39)	Q833R	probably benign	Het
Gnpat	A	C	8: 125,605,638 (GRCm39)	Y336S	probably damaging	Het
Ighv1-54	G	A	12: 115,157,736 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,485,036 (GRCm39)		probably benign	Het
Kif2c	T	C	4: 117,035,355 (GRCm39)	N31S	possibly damaging	Het
Larp1	T	A	11: 57,947,921 (GRCm39)	L939Q	probably damaging	Het
Lrrc69	G	A	4: 14,708,631 (GRCm39)	P238S	probably damaging	Het
Lypd10	T	C	7: 24,413,605 (GRCm39)	I207T	possibly damaging	Het
Lztfl1	C	T	9: 123,538,641 (GRCm39)	G152E	probably damaging	Het
Man2a2	T	C	7: 80,002,691 (GRCm39)	T1097A	possibly damaging	Het
Myh4	A	G	11: 67,142,777 (GRCm39)		probably null	Het
Nab2	C	T	10: 127,500,346 (GRCm39)	V249M	probably damaging	Het
Nid2	A	T	14: 19,819,000 (GRCm39)	D498V	probably benign	Het
Nrap	T	C	19: 56,353,886 (GRCm39)	T404A	probably damaging	Het
Or51i1	A	G	7: 103,670,838 (GRCm39)	V229A	probably benign	Het
Or5al7	A	T	2: 85,992,569 (GRCm39)	C241*	probably null	Het
Or8c9	T	G	9: 38,241,513 (GRCm39)	I210S	probably damaging	Het
Pard3	A	G	8: 128,319,573 (GRCm39)	I1104V	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppfia3	A	G	7: 44,989,651 (GRCm39)	V1187A	probably benign	Het
Ppp1r16b	G	A	2: 158,603,413 (GRCm39)	W346*	probably null	Het
Rpl4	A	G	9: 64,085,599 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,915,053 (GRCm39)	I1206F	probably damaging	Het
Slc5a2	T	C	7: 127,865,776 (GRCm39)	S61P	probably benign	Het
Smarcal1	T	C	1: 72,638,094 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,281,433 (GRCm39)	H302R	probably benign	Het
Sntb1	A	G	15: 55,655,487 (GRCm39)	I243T	probably damaging	Het
Stx8	C	T	11: 67,911,782 (GRCm39)	Q167*	probably null	Het
Sycp2	C	A	2: 178,033,584 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,626,742 (GRCm39)	V13088D	probably damaging	Het
Ugt2b1	T	A	5: 87,074,243 (GRCm39)	M39L	probably benign	Het
Utp6	A	T	11: 79,853,042 (GRCm39)		probably null	Het
Vmn1r189	A	T	13: 22,286,008 (GRCm39)	Y276*	probably null	Het
Vmn2r11	T	A	5: 109,207,209 (GRCm39)	D37V	probably benign	Het
Vmn2r16	T	G	5: 109,478,292 (GRCm39)	F16V	probably damaging	Het
Vmn2r65	A	T	7: 84,592,354 (GRCm39)	M538K	probably damaging	Het
Zfp143	T	A	7: 109,668,818 (GRCm39)		probably benign	Het

Other mutations in Or5c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Or5c1	APN	2	37,222,023 (GRCm39)	missense	possibly damaging	0.60
IGL02955:Or5c1	APN	2	37,222,013 (GRCm39)	missense	probably benign	0.07
IGL03028:Or5c1	APN	2	37,221,968 (GRCm39)	missense	probably damaging	1.00
R1626:Or5c1	UTSW	2	37,222,774 (GRCm39)	splice site	probably null
R1655:Or5c1	UTSW	2	37,221,951 (GRCm39)	missense	probably damaging	1.00
R1771:Or5c1	UTSW	2	37,222,430 (GRCm39)	missense	probably benign	0.23
R1937:Or5c1	UTSW	2	37,221,896 (GRCm39)	missense	probably damaging	1.00
R2297:Or5c1	UTSW	2	37,222,155 (GRCm39)	missense	probably benign	0.04
R4354:Or5c1	UTSW	2	37,221,888 (GRCm39)	missense	probably damaging	1.00
R4888:Or5c1	UTSW	2	37,222,601 (GRCm39)	missense	probably damaging	1.00
R4974:Or5c1	UTSW	2	37,222,578 (GRCm39)	missense	probably damaging	1.00
R5121:Or5c1	UTSW	2	37,222,601 (GRCm39)	missense	probably damaging	1.00
R6144:Or5c1	UTSW	2	37,222,125 (GRCm39)	missense	probably damaging	0.97
R6449:Or5c1	UTSW	2	37,221,837 (GRCm39)	missense	possibly damaging	0.93
R7670:Or5c1	UTSW	2	37,221,771 (GRCm39)	missense	probably benign	0.10
R8049:Or5c1	UTSW	2	37,222,346 (GRCm39)	missense	probably damaging	1.00
R8486:Or5c1	UTSW	2	37,222,662 (GRCm39)	missense	probably damaging	1.00
R8893:Or5c1	UTSW	2	37,222,388 (GRCm39)	missense	probably damaging	1.00
R9147:Or5c1	UTSW	2	37,222,017 (GRCm39)	missense	possibly damaging	0.68
R9148:Or5c1	UTSW	2	37,222,017 (GRCm39)	missense	possibly damaging	0.68
R9401:Or5c1	UTSW	2	37,222,293 (GRCm39)	missense	possibly damaging	0.94
R9574:Or5c1	UTSW	2	37,222,148 (GRCm39)	missense	possibly damaging	0.92
Z1177:Or5c1	UTSW	2	37,222,016 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02