Mutagenetix > Incidental Mutations

Incidental Mutation 'R4679:Olfr1258'

349887

Institutional Source

Beutler Lab

Gene Symbol

Olfr1258

Ensembl Gene

ENSMUSG00000049149

Gene Name

olfactory receptor 1258

Synonyms

GA_x6K02T2Q125-51361752-51362687, MOR232-3

MMRRC Submission

041932-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89927309-89936334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89930664 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 285 (Y285C)

Ref Sequence

ENSEMBL: ENSMUSP00000149547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102609] [ENSMUST00000111516] [ENSMUST00000213720]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102609
AA Change: Y285C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099669
Gene: ENSMUSG00000049149
AA Change: Y285C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	299	3.4e-5	PFAM
Pfam:7tm_1	39	285	6.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111516
AA Change: Y285C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107141
Gene: ENSMUSG00000049149
AA Change: Y285C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	33	299	3.4e-5	PFAM
Pfam:7tm_1	39	285	4.9e-32	PFAM
Pfam:7tm_4	137	278	2.7e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213720
AA Change: Y285C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	C	T	4: 35,226,033		probably benign	Het
AA986860	T	A	1: 130,742,403	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,078,804	V450A	probably benign	Het
Abcg1	A	T	17: 31,114,261	R659S	probably benign	Het
Acad9	A	T	3: 36,088,840	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,060,918	C393S	probably damaging	Het
Adcy7	T	C	8: 88,317,937	V486A	probably benign	Het
Adgrf1	G	T	17: 43,310,493	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,078,828	I285T	probably benign	Het
Arhgap27	G	T	11: 103,360,949		probably benign	Het
Armc5	A	T	7: 128,240,104	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955	K742M	probably benign	Het
Atp9a	T	G	2: 168,661,964	T603P	possibly damaging	Het
Bsn	A	G	9: 108,110,130	S2808P	unknown	Het
Catsper4	T	C	4: 134,226,605	N81S	probably damaging	Het
Ccl17	C	G	8: 94,810,500	T10S	probably benign	Het
Cdc123	A	T	2: 5,844,892	V6D	probably damaging	Het
Cdca2	T	C	14: 67,714,966	K14E	possibly damaging	Het
Cdh3	C	A	8: 106,539,856	T302K	probably damaging	Het
Cdh9	A	G	15: 16,850,959	M605V	probably benign	Het
Cdk4	A	G	10: 127,064,911	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,543,271	A879V	probably damaging	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,531	D518G	probably benign	Het
Cog1	C	T	11: 113,652,290	A208V	probably damaging	Het
Col4a2	T	A	8: 11,431,337	H836Q	possibly damaging	Het
Copb1	T	C	7: 114,248,976	D108G	probably damaging	Het
Csmd3	A	T	15: 48,161,083	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,407,833	H164Q	probably benign	Het
Dkc1	A	G	X: 75,100,992	I215V	probably benign	Het
Enpep	A	G	3: 129,303,713		probably null	Het
Fam71b	T	A	11: 46,404,813	M4K	possibly damaging	Het
Fbln7	A	G	2: 128,894,886	Y311C	probably damaging	Het
Fign	A	C	2: 63,979,261	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,671,688		probably benign	Het
Fmn2	T	C	1: 174,503,162	S373P	unknown	Het
Frmd4b	C	T	6: 97,295,666	D868N	possibly damaging	Het
Gfpt2	A	G	11: 49,823,737	N321S	probably benign	Het
Glmn	G	T	5: 107,561,075	T372K	probably damaging	Het
Gm26602	C	T	10: 79,910,974		probably benign	Het
Gm6797	A	G	X: 8,639,694		noncoding transcript	Het
Gpat3	T	A	5: 100,893,456	F383L	probably damaging	Het
Grrp1	A	G	4: 134,251,436	S244P	probably damaging	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,657,015	H268Y	probably benign	Het
Hectd4	G	T	5: 121,325,251	C2345F	possibly damaging	Het
Htt	A	G	5: 34,820,080	D770G	probably benign	Het
Ints3	T	C	3: 90,408,510	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,394,169	F608L	probably benign	Het
Irak1	A	C	X: 74,022,389		probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Lag3	T	A	6: 124,904,545	Q488L	possibly damaging	Het
Large2	A	T	2: 92,367,558	L266Q	probably benign	Het
Lrp3	T	G	7: 35,203,940	D327A	probably damaging	Het
Mamstr	C	A	7: 45,644,692		probably benign	Het
Mettl14	G	A	3: 123,369,414		probably benign	Het
Miga1	A	G	3: 152,322,475	V139A	probably damaging	Het
Mthfd2l	A	C	5: 90,948,911	R130S	probably benign	Het
Myo1b	A	G	1: 51,757,973	I970T	possibly damaging	Het
Nat10	C	A	2: 103,732,170	W607L	probably damaging	Het
Nop56	A	G	2: 130,278,273	T183A	probably benign	Het
Olfr239	A	G	17: 33,199,393	H115R	probably benign	Het
Olfr291	T	A	7: 84,856,904	Y178*	probably null	Het
Olfr464	T	A	11: 87,914,310	M199L	probably benign	Het
Olfr592	A	G	7: 103,187,102	Y167C	probably benign	Het
Olfr710	A	T	7: 106,944,945	S19T	probably benign	Het
Pcdhb12	T	C	18: 37,436,949	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,695,005	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plscr2	T	G	9: 92,287,770	L91R	probably benign	Het
Plxnc1	T	A	10: 94,794,444	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,685,182	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,456,551	E158G	probably damaging	Het
Rasip1	T	A	7: 45,627,823	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,655,924	N166I	probably damaging	Het
Ripor1	T	A	8: 105,617,785	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,824,369	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sept14	T	C	5: 129,693,026	D202G	possibly damaging	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,161,584	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,182,669	Y927F	probably benign	Het
Spats2	T	G	15: 99,180,722	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,922,462		probably null	Het
T2	A	G	17: 8,391,016	E99G	possibly damaging	Het
Taf3	G	A	2: 10,048,564		probably benign	Het
Tnfsf10	A	T	3: 27,335,579	N263I	probably damaging	Het
Treml2	A	T	17: 48,308,175	R229S	probably benign	Het
Trmt13	T	C	3: 116,589,755	K125E	probably damaging	Het
Ttc9	G	T	12: 81,631,601	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,082,214		noncoding transcript	Het
Zfp932	A	T	5: 110,009,894	H486L	probably damaging	Het

Other mutations in Olfr1258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Olfr1258	APN	2	89930544	missense	probably damaging	0.96
IGL02552:Olfr1258	APN	2	89930559	missense	probably benign	0.01
IGL03300:Olfr1258	APN	2	89930227	nonsense	probably null
R0081:Olfr1258	UTSW	2	89930079	missense	possibly damaging	0.90
R0197:Olfr1258	UTSW	2	89930201	missense	probably benign	0.00
R0701:Olfr1258	UTSW	2	89930201	missense	probably benign	0.00
R0883:Olfr1258	UTSW	2	89930201	missense	probably benign	0.00
R1163:Olfr1258	UTSW	2	89930105	missense	possibly damaging	0.78
R1833:Olfr1258	UTSW	2	89930301	nonsense	probably null
R1846:Olfr1258	UTSW	2	89930666	missense	possibly damaging	0.45
R4504:Olfr1258	UTSW	2	89930351	missense	possibly damaging	0.89
R4507:Olfr1258	UTSW	2	89930351	missense	possibly damaging	0.89
R4908:Olfr1258	UTSW	2	89930579	missense	probably benign	0.00
R5430:Olfr1258	UTSW	2	89929913	missense	probably benign	0.00
R6836:Olfr1258	UTSW	2	89930339	missense	probably damaging	1.00
R7552:Olfr1258	UTSW	2	89930720	missense	probably benign	0.06
R7709:Olfr1258	UTSW	2	89929881	missense	probably benign	0.00
R8060:Olfr1258	UTSW	2	89930349	missense	probably benign	0.04
R8349:Olfr1258	UTSW	2	89930534	missense	possibly damaging	0.48
R8449:Olfr1258	UTSW	2	89930534	missense	possibly damaging	0.48
Z1177:Olfr1258	UTSW	2	89930598	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCACATTCTGGGGCTCTTTG -3'
(R):5'- GTCCTGGGTAACATTCTTGCTG -3'

Sequencing Primer
(F):5'- GTTCATTAAGAAACCACAGTGCAG -3'
(R):5'- CTTGCTGGCTTCAAATACAATGTC -3'

Posted On

2015-10-08