Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01317:Olfr1308'

73883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1308

Ensembl Gene

ENSMUSG00000074952

Gene Name

olfactory receptor 1308

Synonyms

MOR245-22, GA_x6K02T2Q125-73008844-73007882

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

111959285-111964944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111960275 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 266 (H266L)

Ref Sequence

ENSEMBL: ENSMUSP00000146688 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099605
AA Change: H266L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: H266L

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

possibly damaging
Transcript: ENSMUST00000207560
AA Change: H266L

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,872,581	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,918,104	I352V	probably benign	Het
Apeh	A	T	9: 108,086,207	S605R	probably benign	Het
Arhgap32	A	G	9: 32,256,964	K748E	probably benign	Het
Avpr1a	T	C	10: 122,449,567	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,173	D1124V	possibly damaging	Het
Cask	C	T	X: 13,522,260	E83K	probably damaging	Het
Ccdc129	G	T	6: 55,967,805	A504S	possibly damaging	Het
Cep170b	A	G	12: 112,737,644	Y670C	probably damaging	Het
Chd3	A	G	11: 69,353,211	Y1343H	probably damaging	Het
Cit	T	A	5: 115,908,716	V396D	probably benign	Het
Cldn18	T	C	9: 99,696,082	T203A	probably benign	Het
Dido1	A	C	2: 180,671,757	N907K	probably benign	Het
Dmbt1	T	A	7: 131,041,191	D246E	probably damaging	Het
Dph1	T	C	11: 75,180,660	H303R	probably benign	Het
Dspp	T	A	5: 104,174,048	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,204,959		probably benign	Het
Fam160a1	T	C	3: 85,672,846	D684G	probably benign	Het
Fam171a1	T	A	2: 3,202,626	V215E	probably damaging	Het
Foxm1	T	A	6: 128,367,353	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,998,258	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,429,489		probably benign	Het
Heatr1	T	A	13: 12,399,027	W162R	probably damaging	Het
Hydin	A	T	8: 110,326,446	D250V	probably damaging	Het
Itga4	T	A	2: 79,322,661	C897*	probably null	Het
Kcnd2	T	C	6: 21,727,340	*631Q	probably null	Het
Kcnn2	A	G	18: 45,560,627		probably null	Het
Lama1	A	T	17: 67,818,701	E2951V	probably damaging	Het
Lyst	A	G	13: 13,670,870	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,435,790	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,624	N102K	probably benign	Het
Mrpl28	G	A	17: 26,125,515	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,602,404		probably benign	Het
Oog2	A	G	4: 144,195,267	N249S	probably benign	Het
Ppp6r2	T	A	15: 89,285,928	V882E	possibly damaging	Het
Qser1	A	C	2: 104,786,979	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,100,057	D480E	probably damaging	Het
Rfx7	G	A	9: 72,618,536	G1003S	probably damaging	Het
Rrh	A	C	3: 129,822,425	F20V	possibly damaging	Het
Rwdd3	A	G	3: 121,171,633	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,192,545	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,620,804	L32F	probably benign	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,212,826	Y223F	probably benign	Het
Tbx20	A	G	9: 24,769,755	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,071,996		probably benign	Het
Tmtc2	C	A	10: 105,413,785	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,188,356	M1236L	probably benign	Het
Unc119	T	A	11: 78,347,226	C12S	probably damaging	Het
Vcan	A	G	13: 89,691,668	M1919T	probably benign	Het
Zmat4	C	A	8: 23,902,169	T47K	probably benign	Het

Other mutations in Olfr1308

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0244:Olfr1308	UTSW	2	111961016	missense	probably benign	0.13
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

Posted On

2013-10-07