Mutagenetix > Incidental Mutations

Incidental Mutation 'R0240:Olfr228'

65824

Institutional Source

Beutler Lab

Gene Symbol

Olfr228

Ensembl Gene

ENSMUSG00000111772

Gene Name

Synonyms

MOR189-3, GA_x6K02T0101M-139-669

MMRRC Submission

038478-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R0240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86481921-86487386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86483386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000216534] [ENSMUST00000217292]

AlphaFold

A0A1L1SR98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099883
AA Change: S119P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: S119P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.5e-54	PFAM
Pfam:7tm_1	41	290	5.6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215705

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216534
AA Change: S119P

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217292
AA Change: S119P

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.2479

Coding Region Coverage

1x: 98.7%
3x: 97.3%
10x: 91.2%
20x: 69.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 122,780,181	L71P	probably damaging	Het
Adamts2	A	T	11: 50,775,374	D399V	probably damaging	Het
Adck2	T	A	6: 39,583,818	V380E	probably benign	Het
Ankrd27	T	A	7: 35,619,439	L585Q	probably damaging	Het
Atp7a	T	A	X: 106,109,841	N1117K	probably damaging	Het
Cacna1d	T	A	14: 30,096,969	M1210L	probably benign	Het
Cotl1	C	T	8: 119,840,324	W26*	probably null	Het
Csmd3	T	C	15: 47,629,239	T3000A	probably benign	Het
Ddhd2	A	T	8: 25,739,590		probably null	Het
Dnah8	T	C	17: 30,765,679	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,353,625	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,658,580	A359D	probably damaging	Het
Eif4g3	A	G	4: 138,170,562	K1025R	probably damaging	Het
Eml2	C	A	7: 19,184,872	Y82*	probably null	Het
Eml6	A	G	11: 29,792,367	V1057A	possibly damaging	Het
Espl1	T	C	15: 102,312,541	S911P	probably benign	Het
Flrt1	A	T	19: 7,097,110		probably benign	Het
G3bp1	G	A	11: 55,492,028	G139D	probably damaging	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Ganab	A	G	19: 8,912,813	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,125,882	E291G	possibly damaging	Het
Hectd3	T	G	4: 117,002,613	V749G	probably damaging	Het
Kcnh1	T	A	1: 192,505,340	I703N	probably benign	Het
Kcnma1	G	A	14: 23,494,579	T505I	probably damaging	Het
Kctd11	A	G	11: 69,879,814	C133R	probably damaging	Het
Lama3	A	T	18: 12,539,823		probably null	Het
Lamb3	T	C	1: 193,335,027	L842P	probably damaging	Het
Lipk	G	A	19: 34,046,810	R336H	probably benign	Het
Lrrc24	T	A	15: 76,723,209	D58V	probably damaging	Het
Milr1	G	A	11: 106,754,896	W88*	probably null	Het
Mmp10	A	G	9: 7,506,543	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,555,738	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 166,054,400	T408A	probably benign	Het
Nefm	T	A	14: 68,121,134	K484*	probably null	Het
Nfasc	A	G	1: 132,601,983	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,462,516	V863A	probably benign	Het
Nos1	C	T	5: 117,867,883	P223S	probably benign	Het
Olfr1213	A	T	2: 88,973,396	L165Q	probably damaging	Het
Olfr1440	A	T	19: 12,394,963	E233D	probably benign	Het
Olfr155	T	A	4: 43,854,512	S68T	probably damaging	Het
Otog	C	A	7: 46,264,032		probably null	Het
Pacs1	A	T	19: 5,156,374	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,203,482	T189I	possibly damaging	Het
Pcnx	T	C	12: 81,947,018	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,879,445	W124R	probably damaging	Het
Phex	C	A	X: 157,186,218	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,962,995	D435E	probably benign	Het
Plce1	A	C	19: 38,728,886	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,602,088	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374	S421T	probably benign	Het
Ptprs	T	C	17: 56,436,087		probably null	Het
Qrich1	A	G	9: 108,534,134	D286G	probably damaging	Het
Rcc1	C	A	4: 132,332,915	G393V	probably damaging	Het
Reln	T	C	5: 22,106,045	N290S	probably benign	Het
Rhpn1	C	T	15: 75,714,122	T628I	probably benign	Het
Rnf224	T	C	2: 25,236,207	T45A	probably damaging	Het
Rpa1	A	G	11: 75,328,687	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,848,531	Q693H	probably benign	Het
Scn2a	G	T	2: 65,735,774	V1381F	probably benign	Het
Scp2	T	A	4: 108,098,078	H112L	probably benign	Het
Sdk1	T	C	5: 141,998,747	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,454,527	I332N	probably benign	Het
Slc45a4	T	A	15: 73,581,906	E674D	probably benign	Het
Smpd3	T	C	8: 106,265,156	E255G	probably damaging	Het
Snx29	C	T	16: 11,660,553	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,920,336	M275K	probably benign	Het
Stac	T	C	9: 111,635,021	N59S	probably damaging	Het
Stk25	A	T	1: 93,627,060	L131Q	probably damaging	Het
Thbs1	C	A	2: 118,114,393	N229K	probably damaging	Het
Tmx2	A	T	2: 84,675,842	H89Q	probably damaging	Het
Trappc3l	A	T	10: 34,098,932	R119*	probably null	Het
Ublcp1	G	T	11: 44,458,277	Y243*	probably null	Het
Usp24	C	A	4: 106,414,404	C2158*	probably null	Het
Usp34	A	T	11: 23,433,206	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,223,943	S133C	probably damaging	Het
Vmn2r52	A	G	7: 10,159,400	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,304,799	K240E	probably benign	Het
Wdr13	T	G	X: 8,128,045	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734		probably null	Het
Zan	G	A	5: 137,398,362	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,144,083	R123L	possibly damaging	Het
Zfp318	C	T	17: 46,396,813	P266S	probably benign	Het

Other mutations in Olfr228

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Olfr228	APN	2	86483218	missense	probably benign	0.05
IGL02136:Olfr228	APN	2	86483465	missense	probably damaging	1.00
IGL02419:Olfr228	APN	2	86482915	missense	probably damaging	0.99
IGL03008:Olfr228	APN	2	86483334	missense	probably damaging	1.00
R0240:Olfr228	UTSW	2	86483386	missense	possibly damaging	0.78
R1073:Olfr228	UTSW	2	86483640	missense	probably damaging	0.98
R1163:Olfr228	UTSW	2	86483238	missense	probably damaging	1.00
R1505:Olfr228	UTSW	2	86483213	missense	possibly damaging	0.94
R1806:Olfr228	UTSW	2	86483139	missense	probably damaging	0.99
R1940:Olfr228	UTSW	2	86483359	nonsense	probably null
R3025:Olfr228	UTSW	2	86483739	start codon destroyed	probably null	1.00
R3037:Olfr228	UTSW	2	86483643	missense	probably damaging	0.96
R5156:Olfr228	UTSW	2	86483018	nonsense	probably null
R6459:Olfr228	UTSW	2	86483229	missense	probably benign	0.23
R6472:Olfr228	UTSW	2	86483190	nonsense	probably null
R6493:Olfr228	UTSW	2	86483221	missense	possibly damaging	0.59
R6880:Olfr228	UTSW	2	86483725	missense	probably benign
R7283:Olfr228	UTSW	2	86483139	missense	probably damaging	0.99
R8113:Olfr228	UTSW	2	86483068	missense	probably damaging	1.00
X0028:Olfr228	UTSW	2	86482890	missense	probably damaging	0.99

Predicted Primers

Posted On

2013-08-19