Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Olfr228'

565776

Institutional Source

Beutler Lab

Gene Symbol

Olfr228

Ensembl Gene

ENSMUSG00000111772

Gene Name

Synonyms

MOR189-3, GA_x6K02T0101M-139-669

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86481921-86487386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86483139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 201 (I201N)

Gene Model

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

AlphaFold

A0A1L1SR98

Predicted Effect

probably damaging
Transcript: ENSMUST00000099883
AA Change: I201N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: I201N

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

probably damaging
Transcript: ENSMUST00000216534
AA Change: I201N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217292
AA Change: I201N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.2206

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
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
R8113:Olfr228	UTSW	2	86483068	missense	probably damaging	1.00
R9799:Olfr228	UTSW	2	86483388	missense	probably damaging	1.00
X0028:Olfr228	UTSW	2	86482890	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGATAGAAGCCACCTTGTCAG -3'
(R):5'- TGGGTTCTAGTGGCCATTCC -3'

Sequencing Primer
(F):5'- GTCACTGGACTTAGGTTGCACATAC -3'
(R):5'- AGTGGCCATTCCTTACATTTACAG -3'

Posted On

2019-06-26