Mutagenetix > Incidental Mutations

Incidental Mutation 'R1499:Olfr195'

168736

Institutional Source

Beutler Lab

Gene Symbol

Olfr195

Ensembl Gene

ENSMUSG00000062608

Gene Name

olfactory receptor 195

Synonyms

MOR184-5, GA_x54KRFPKG5P-55369823-55370749

MMRRC Submission

039550-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59147046-59150777 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59148924 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 25 (T25A)

Ref Sequence

ENSEMBL: ENSMUSP00000150249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075381] [ENSMUST00000216957]

Predicted Effect

probably benign
Transcript: ENSMUST00000075381
AA Change: T25A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073737
Gene: ENSMUSG00000062608
AA Change: T25A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.1e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	161	2.7e-8	PFAM
Pfam:7tm_1	41	307	9.4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208239
AA Change: T25A

Predicted Effect

probably benign
Transcript: ENSMUST00000216957
AA Change: T25A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0826

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,921,718	S199T	probably benign	Het
Abca9	T	A	11: 110,139,632	Y763F	probably benign	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Actl11	A	G	9: 107,931,483	T1002A	probably damaging	Het
Ampd1	T	A	3: 103,091,664	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,586		probably benign	Het
Arhgap6	C	A	X: 168,796,503	P95T	possibly damaging	Het
Atg14	T	C	14: 47,560,645	N87S	probably benign	Het
Atp9b	C	T	18: 80,762,138	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,778,907	T110S	probably benign	Het
Birc6	T	G	17: 74,612,319	L221R	probably damaging	Het
Ces1c	A	G	8: 93,127,605	F101L	probably benign	Het
Chsy1	T	C	7: 66,172,002	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,507,900	F176I	probably benign	Het
Col5a2	A	G	1: 45,411,466	S374P	probably benign	Het
Col6a2	A	T	10: 76,603,710	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336	I401K	probably damaging	Het
Cspp1	T	A	1: 10,088,966		probably null	Het
Ddn	G	A	15: 98,806,766	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799		probably benign	Het
Dync2li1	T	C	17: 84,647,239		probably benign	Het
Eif2a	T	A	3: 58,537,584	L50*	probably null	Het
Elavl3	G	A	9: 22,018,579	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,708,638		probably null	Het
Fgf8	C	A	19: 45,742,347	V80F	possibly damaging	Het
Fras1	A	T	5: 96,743,187	E2858D	probably benign	Het
Fshr	A	T	17: 88,986,101	L383Q	probably damaging	Het
Glb1	A	G	9: 114,417,103	K74R	probably benign	Het
Gmeb2	T	G	2: 181,255,226	M290L	probably benign	Het
Gnptg	A	G	17: 25,235,854		probably null	Het
Grik2	A	C	10: 49,132,775	S739A	probably damaging	Het
Grk2	T	A	19: 4,287,194	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,514,512	V210A	probably damaging	Het
Hyal1	C	T	9: 107,577,892	L134F	probably damaging	Het
Itgb2	A	T	10: 77,546,153	K18N	possibly damaging	Het
Jam3	A	T	9: 27,106,405	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,239,915	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,473,298	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,400,025	Y981C	probably damaging	Het
Klk1b26	C	A	7: 44,016,386	D207E	probably benign	Het
Kmt2a	G	T	9: 44,848,266	T762N	probably benign	Het
Kmt2d	A	G	15: 98,844,938		probably benign	Het
Lama4	T	C	10: 39,088,880	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,718,969	C127S	unknown	Het
Maats1	A	G	16: 38,321,400	V390A	probably damaging	Het
Map7d1	A	G	4: 126,234,765		probably null	Het
Ninl	T	C	2: 150,980,176	D2G	possibly damaging	Het
Olfr1029	C	T	2: 85,976,028	P262S	possibly damaging	Het
Olfr1369-ps1	T	A	13: 21,116,133	M147K	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr429	T	A	1: 174,089,247	L69*	probably null	Het
Pax8	A	G	2: 24,429,596	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,260,244	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,570,287	F40Y	probably benign	Het
Phrf1	G	T	7: 141,256,651	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,940,538		probably benign	Het
Pum1	T	C	4: 130,719,256	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,868,974	F220L	probably benign	Het
Rgs9	A	G	11: 109,268,921		probably null	Het
Rin3	A	G	12: 102,368,759	T230A	unknown	Het
Ros1	A	T	10: 52,098,677	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528	M151V	probably benign	Het
Sacs	T	A	14: 61,213,704	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,224,929	V148I	probably benign	Het
Slc13a5	A	G	11: 72,250,731	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,562,907		probably null	Het
Smarcc2	T	A	10: 128,463,872	N135K	probably damaging	Het
Snx15	G	C	19: 6,122,064	S116R	probably damaging	Het
Stag1	A	G	9: 100,855,832	E414G	possibly damaging	Het
Stag1	A	T	9: 100,887,373		probably benign	Het
Tmem106a	T	A	11: 101,590,437	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,964,754	D1968N	probably benign	Het
Trim42	A	G	9: 97,366,085	L186P	possibly damaging	Het
Tshb	T	A	3: 102,778,308		probably benign	Het
Ttn	T	A	2: 76,754,140	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,640,283	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228	T113I	probably damaging	Het
Vps13c	A	G	9: 67,957,505	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,651,809		probably benign	Het
Zc3h7a	G	A	16: 11,162,656	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046	S1191P	probably damaging	Het

Other mutations in Olfr195

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Olfr195	APN	16	59149464	missense	probably benign	0.01
IGL01945:Olfr195	APN	16	59149464	missense	probably benign	0.01
R0071:Olfr195	UTSW	16	59149215	missense	probably benign	0.23
R0390:Olfr195	UTSW	16	59149299	missense	probably benign	0.01
R0601:Olfr195	UTSW	16	59149754	missense	probably benign	0.00
R1612:Olfr195	UTSW	16	59149624	missense	probably benign	0.00
R1785:Olfr195	UTSW	16	59149297	missense	probably damaging	1.00
R2082:Olfr195	UTSW	16	59148885	missense	probably damaging	0.99
R3605:Olfr195	UTSW	16	59149483	missense	probably damaging	1.00
R4168:Olfr195	UTSW	16	59149000	missense	probably benign	0.00
R4839:Olfr195	UTSW	16	59149030	missense	probably damaging	1.00
R4989:Olfr195	UTSW	16	59149618	missense	probably damaging	1.00
R5285:Olfr195	UTSW	16	59149270	missense	probably damaging	1.00
R7107:Olfr195	UTSW	16	59148916	missense	probably benign	0.10
R7136:Olfr195	UTSW	16	59148964	missense	probably damaging	1.00
R7317:Olfr195	UTSW	16	59149321	missense	possibly damaging	0.80
R7601:Olfr195	UTSW	16	59149234	missense	probably benign	0.01
R7729:Olfr195	UTSW	16	59149207	missense	probably damaging	1.00
R8004:Olfr195	UTSW	16	59148988	missense	probably damaging	1.00
R8208:Olfr195	UTSW	16	59149019	missense	probably benign	0.41
R8282:Olfr195	UTSW	16	59149166	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGGTGCAGTGAGAAGAAAATTTCCT -3'
(R):5'- GCAGTCTGTAGTTTCAGCAAGACAGAG -3'

Sequencing Primer
(F):5'- GTGATTCCAGTGGCAACAGA -3'
(R):5'- TGTACCATGCACTCATAGAGAG -3'

Posted On

2014-04-13