Mutagenetix > Incidental Mutations

Incidental Mutation 'R0244:Olfr1308'

37940

Institutional Source

Beutler Lab

Gene Symbol

Olfr1308

Ensembl Gene

ENSMUSG00000074952

Gene Name

olfactory receptor 1308

Synonyms

MOR245-22, GA_x6K02T2Q125-73008844-73007882

MMRRC Submission

038482-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111959285-111964944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111961016 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 19 (N19S)

Ref Sequence

ENSEMBL: ENSMUSP00000146688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]

Predicted Effect

probably benign
Transcript: ENSMUST00000099605
AA Change: N19S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: N19S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	2.2e-39	PFAM
Pfam:7tm_1	41	287	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207560
AA Change: N19S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,286,491		probably null	Het
Adamdec1	A	T	14: 68,568,723	C434*	probably null	Het
Adprhl1	A	G	8: 13,242,391		probably benign	Het
Ago1	T	A	4: 126,463,706	I59F	possibly damaging	Het
Arel1	T	C	12: 84,920,693	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,363,131	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,884,622	G204D	probably damaging	Het
Bace2	T	A	16: 97,436,773		probably null	Het
Camk4	G	A	18: 33,179,625		probably null	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cep152	T	C	2: 125,564,214	E1466G	probably benign	Het
Ces3b	T	C	8: 105,092,635	F441S	probably damaging	Het
Cfap52	T	C	11: 67,926,382	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,813,898	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,102,168	D467V	probably damaging	Het
Col7a1	T	A	9: 108,972,184		probably null	Het
Cstf1	A	G	2: 172,377,710	N247S	possibly damaging	Het
Dffb	G	T	4: 153,974,615	N68K	probably benign	Het
Duox2	C	T	2: 122,291,860	G595S	probably benign	Het
Eftud2	T	A	11: 102,864,725	I228F	probably damaging	Het
Elmo3	T	C	8: 105,309,171	V578A	probably benign	Het
Elp2	A	G	18: 24,631,471	D625G	possibly damaging	Het
Ep300	C	T	15: 81,640,128	P1386S	unknown	Het
Fam120b	A	G	17: 15,417,637	D610G	probably damaging	Het
Fastk	A	T	5: 24,442,178		probably benign	Het
Fbxl6	A	G	15: 76,537,191	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,793	K423E	probably damaging	Het
Filip1	T	A	9: 79,819,462	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,856,378	Y283*	probably null	Het
Gigyf2	T	A	1: 87,379,015	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,716,014		probably null	Het
Golga5	T	C	12: 102,476,188	V262A	probably benign	Het
Hectd4	T	C	5: 121,329,605	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632	S335*	probably null	Het
Itga1	A	T	13: 115,006,897		probably benign	Het
Itgb1	T	C	8: 128,717,685		probably benign	Het
Itpr1	G	A	6: 108,473,589	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kprp	C	T	3: 92,825,411	V111I	probably benign	Het
Lamc3	T	C	2: 31,940,721	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,227,001	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,534,698	T228A	probably benign	Het
Lipa	A	T	19: 34,501,541	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,215,773	E373K	probably damaging	Het
Map6	G	A	7: 99,336,836	G649D	probably benign	Het
Mccc1	A	G	3: 35,990,047		probably null	Het
Mical3	A	T	6: 120,957,722	S1799T	probably benign	Het
Mmp23	T	A	4: 155,652,132	T151S	probably damaging	Het
Myo1d	T	A	11: 80,674,708	N401I	probably damaging	Het
Myo9b	T	A	8: 71,321,813	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353	W446L	probably benign	Het
Nedd1	A	T	10: 92,716,265		probably benign	Het
Ngef	C	A	1: 87,487,962		probably benign	Het
Nup153	A	T	13: 46,693,936	N672K	probably benign	Het
Olfr149	T	A	9: 39,702,173	I199F	probably damaging	Het
Olfr1509	T	C	14: 52,450,512	V33A	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Palm2	T	G	4: 57,710,177	V374G	possibly damaging	Het
Pdlim3	C	A	8: 45,908,460		probably benign	Het
Pmfbp1	G	A	8: 109,541,673	E951K	probably damaging	Het
Pop1	T	A	15: 34,515,891	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ptpdc1	A	T	13: 48,585,980	N658K	probably benign	Het
Ptprk	A	C	10: 28,206,225	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,732,877	R712W	probably damaging	Het
Samd7	A	C	3: 30,751,073	T2P	probably benign	Het
Sft2d1	A	G	17: 8,319,422	T52A	probably benign	Het
Slc25a26	A	G	6: 94,510,833	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,189,152	E621G	possibly damaging	Het
Slf1	A	T	13: 77,126,632	L28*	probably null	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,397,553		probably benign	Het
Tacc2	T	C	7: 130,751,825		probably benign	Het
Tas2r140	A	G	6: 133,055,327	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,018,164	T371K	possibly damaging	Het
Tifa	C	T	3: 127,796,888	L103F	probably damaging	Het
Tmco3	A	G	8: 13,292,037	N104D	probably damaging	Het
Tmem259	T	A	10: 79,978,963	D240V	probably damaging	Het
Trim60	C	T	8: 65,001,048	R183H	probably benign	Het
Trps1	T	C	15: 50,664,743	N725D	probably damaging	Het
Ttn	C	T	2: 76,814,806	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Unc79	A	G	12: 103,112,891	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,126	V405I	probably benign	Het
Wdr18	T	A	10: 79,966,408	D290E	probably damaging	Het
Wdr92	T	C	11: 17,229,851	L284P	probably damaging	Het
Wwc2	G	A	8: 47,900,721	A126V	probably benign	Het
Zfp882	A	T	8: 71,913,523	I105F	possibly damaging	Het
Zfp942	A	T	17: 21,928,572	C359S	probably benign	Het

Other mutations in Olfr1308

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Olfr1308	APN	2	111960275	missense	possibly damaging	0.84
IGL01359:Olfr1308	APN	2	111961061	missense	probably benign
IGL01731:Olfr1308	APN	2	111960635	missense	probably benign	0.03
IGL01788:Olfr1308	APN	2	111961007	missense	probably benign
IGL02385:Olfr1308	APN	2	111960258	missense	probably benign	0.00
IGL02969:Olfr1308	APN	2	111960567	missense	probably damaging	1.00
R0102:Olfr1308	UTSW	2	111960597	missense	probably damaging	1.00
R0102:Olfr1308	UTSW	2	111960597	missense	probably damaging	1.00
R0265:Olfr1308	UTSW	2	111960494	missense	probably damaging	0.99
R1268:Olfr1308	UTSW	2	111960877	missense	possibly damaging	0.78
R1406:Olfr1308	UTSW	2	111960581	missense	probably benign	0.07
R1406:Olfr1308	UTSW	2	111960581	missense	probably benign	0.07
R1568:Olfr1308	UTSW	2	111960240	missense	probably benign	0.02
R2401:Olfr1308	UTSW	2	111960149	missense	probably benign	0.01
R4396:Olfr1308	UTSW	2	111960215	missense	probably damaging	1.00
R4528:Olfr1308	UTSW	2	111960948	missense	probably damaging	1.00
R5916:Olfr1308	UTSW	2	111960830	missense	probably damaging	1.00
R6332:Olfr1308	UTSW	2	111960746	missense	probably damaging	0.98
R6595:Olfr1308	UTSW	2	111960170	missense	possibly damaging	0.95
R7339:Olfr1308	UTSW	2	111960611	missense	probably benign	0.12
R7917:Olfr1308	UTSW	2	111960965	missense	probably damaging	0.98
R8017:Olfr1308	UTSW	2	111960573	missense	probably damaging	0.99
R8092:Olfr1308	UTSW	2	111960307	missense	probably benign	0.00
R8246:Olfr1308	UTSW	2	111960138	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCCACATATCTGTCAAAGGCCAT -3'
(R):5'- TGGCTGCCAAGAACAAAACTAAGGT -3'

Sequencing Primer
(F):5'- GATCATAAATCATCTTGGGGGC -3'
(R):5'- GATGAGTCTCAAGGTCCGAATATCC -3'

Posted On

2013-05-23