Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Or4c1'

283794

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4c1

Ensembl Gene

ENSMUSG00000075093

Gene Name

olfactory receptor family 4 subfamily C member 1

Synonyms

MOR235-2, GA_x6K02T2Q125-50748233-50747292, Olfr1231

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

89132993-89133934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89133641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 98 (C98W)

Ref Sequence

ENSEMBL: ENSMUSP00000150310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]

AlphaFold

Q7TQZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099786
AA Change: C98W

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

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: C98W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	306	7e-43	PFAM
Pfam:7tm_1	42	288	1.3e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216144
AA Change: C98W

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	T	11: 48,838,248 (GRCm39)	Y780N	probably benign	Het
Aadacl2	T	C	3: 59,932,609 (GRCm39)	S375P	probably damaging	Het
Abi1	A	C	2: 22,930,076 (GRCm39)	M1R	probably null	Het
Acss1	T	C	2: 150,471,788 (GRCm39)	D322G	probably damaging	Het
Adam22	G	A	5: 8,380,029 (GRCm39)	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,648,275 (GRCm39)	H515R	probably benign	Het
C3	T	C	17: 57,527,113 (GRCm39)	K779E	probably benign	Het
Cfhr2	A	G	1: 139,749,497 (GRCm39)	Y162H	probably damaging	Het
Chchd5	T	C	2: 128,975,188 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 16,321,620 (GRCm39)	I493F	probably damaging	Het
Daam1	A	T	12: 71,993,059 (GRCm39)	R349S	unknown	Het
Dnah11	T	C	12: 118,046,314 (GRCm39)	E1708G	probably benign	Het
Epg5	A	G	18: 78,056,085 (GRCm39)	D1753G	probably damaging	Het
Flt4	T	G	11: 49,516,830 (GRCm39)	C206G	probably damaging	Het
Fscn1	G	T	5: 142,946,375 (GRCm39)	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,618,556 (GRCm39)	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121 (GRCm39)	S70T	possibly damaging	Het
H2-K2	A	G	17: 34,218,466 (GRCm39)	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,649,454 (GRCm39)	I290L	probably benign	Het
Iws1	A	G	18: 32,226,178 (GRCm39)	R689G	probably damaging	Het
Klk1b22	A	G	7: 43,765,630 (GRCm39)		probably null	Het
Klra4	T	A	6: 130,021,105 (GRCm39)	D230V	possibly damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Liat1	A	G	11: 75,891,056 (GRCm39)	K57E	probably damaging	Het
Lilra5	A	T	7: 4,240,968 (GRCm39)	M21L	probably benign	Het
Lrrc20	T	A	10: 61,362,887 (GRCm39)	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,116,624 (GRCm39)	M426L	probably damaging	Het
Mylk2	C	T	2: 152,757,074 (GRCm39)	P283L	probably damaging	Het
Mynn	T	A	3: 30,667,693 (GRCm39)		probably benign	Het
Odr4	G	T	1: 150,247,784 (GRCm39)	N356K	possibly damaging	Het
Parl	T	A	16: 20,116,453 (GRCm39)	I116F	probably damaging	Het
Pdlim3	T	C	8: 46,338,630 (GRCm39)	V5A	probably damaging	Het
Pld1	G	A	3: 28,174,932 (GRCm39)	V857I	probably benign	Het
Ptprf	T	A	4: 118,070,839 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,235,139 (GRCm39)	S170P	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps27a	C	A	11: 29,496,772 (GRCm39)	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,585,183 (GRCm39)		probably benign	Het
Scube3	G	T	17: 28,381,970 (GRCm39)	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,235,351 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,123,693 (GRCm39)	E818G	probably benign	Het
Slc16a3	G	A	11: 120,847,597 (GRCm39)	V262I	probably benign	Het
Sptbn1	T	A	11: 30,067,871 (GRCm39)	D1781V	probably damaging	Het
Ssr1	C	T	13: 38,171,492 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,064,283 (GRCm39)	L2442S	probably benign	Het
Tonsl	A	T	15: 76,507,378 (GRCm39)	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,496,354 (GRCm39)	H468L	probably benign	Het
Ttc27	C	T	17: 75,036,894 (GRCm39)	T189M	probably damaging	Het
Ttn	T	C	2: 76,720,500 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,590,239 (GRCm39)	I21157L	probably damaging	Het
Vav3	T	A	3: 109,433,276 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Or4c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or4c1	APN	2	89,133,816 (GRCm39)	missense	possibly damaging	0.90
IGL02354:Or4c1	APN	2	89,133,526 (GRCm39)	missense	probably benign	0.03
IGL02361:Or4c1	APN	2	89,133,526 (GRCm39)	missense	probably benign	0.03
PIT4305001:Or4c1	UTSW	2	89,133,727 (GRCm39)	missense	probably benign	0.05
R0973:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R0973:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R0974:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R2006:Or4c1	UTSW	2	89,133,160 (GRCm39)	missense	possibly damaging	0.60
R3150:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3177:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3277:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3409:Or4c1	UTSW	2	89,133,717 (GRCm39)	missense	probably benign
R4208:Or4c1	UTSW	2	89,133,270 (GRCm39)	missense	probably damaging	1.00
R4412:Or4c1	UTSW	2	89,133,684 (GRCm39)	missense	probably benign	0.00
R4693:Or4c1	UTSW	2	89,133,621 (GRCm39)	missense	probably benign	0.07
R4697:Or4c1	UTSW	2	89,133,247 (GRCm39)	missense	probably damaging	1.00
R4697:Or4c1	UTSW	2	89,133,246 (GRCm39)	missense	possibly damaging	0.90
R5411:Or4c1	UTSW	2	89,133,920 (GRCm39)	missense	probably benign
R5992:Or4c1	UTSW	2	89,133,703 (GRCm39)	missense	possibly damaging	0.50
R6894:Or4c1	UTSW	2	89,133,837 (GRCm39)	missense	probably damaging	1.00
R8017:Or4c1	UTSW	2	89,133,595 (GRCm39)	missense	possibly damaging	0.94
R8019:Or4c1	UTSW	2	89,133,595 (GRCm39)	missense	possibly damaging	0.94
R9274:Or4c1	UTSW	2	89,133,513 (GRCm39)	missense	probably damaging	0.98
R9457:Or4c1	UTSW	2	89,133,075 (GRCm39)	missense	probably damaging	1.00
X0064:Or4c1	UTSW	2	89,133,246 (GRCm39)	missense	possibly damaging	0.72
X0067:Or4c1	UTSW	2	89,133,498 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16