Mutagenetix > Incidental Mutations

Incidental Mutation 'R1680:Olfr556'

188420

Institutional Source

Beutler Lab

Gene Symbol

Olfr556

Ensembl Gene

ENSMUSG00000073969

Gene Name

olfactory receptor 556

Synonyms

MOR41-1, GA_x6K02T2PBJ9-5386601-5387575

MMRRC Submission

039716-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102664899-102673270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102670733 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 271 (D271G)

Ref Sequence

ENSEMBL: ENSMUSP00000150289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098219
AA Change: D271G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: D271G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1.2e-85	PFAM
Pfam:7TM_GPCR_Srsx	39	192	1.5e-13	PFAM
Pfam:7tm_1	45	297	3.2e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213485
AA Change: D271G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217526
AA Change: D271G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	Het

Other mutations in Olfr556

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Olfr556	APN	7	102670651	missense	probably damaging	1.00
IGL01662:Olfr556	APN	7	102670720	missense	probably damaging	1.00
IGL02989:Olfr556	APN	7	102670444	missense	possibly damaging	0.50
R0194:Olfr556	UTSW	7	102670199	missense	probably benign	0.01
R1670:Olfr556	UTSW	7	102670402	missense	possibly damaging	0.72
R1711:Olfr556	UTSW	7	102670162	missense	probably damaging	0.98
R1768:Olfr556	UTSW	7	102670301	missense	probably damaging	1.00
R1950:Olfr556	UTSW	7	102670477	missense	probably benign	0.03
R4452:Olfr556	UTSW	7	102670049	missense	probably benign	0.00
R5564:Olfr556	UTSW	7	102670226	missense	probably damaging	1.00
R6623:Olfr556	UTSW	7	102670034	missense	possibly damaging	0.90
R7040:Olfr556	UTSW	7	102670730	missense	probably benign	0.00
R7244:Olfr556	UTSW	7	102669839	start gained	probably benign
R7300:Olfr556	UTSW	7	102670210	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CATGCCCAGCAGTCTCTACAGTTTG -3'
(R):5'- TGTTATGCCAGGACACTCTACGCC -3'

Sequencing Primer
(F):5'- AGCAGTCTCTACAGTTTGATTTTTTC -3'
(R):5'- ATCCTTGCAGTGACTGGAAC -3'

Posted On

2014-05-09