Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Olfr577'

378291

Institutional Source

Beutler Lab

Gene Symbol

Olfr577

Ensembl Gene

ENSMUSG00000043354

Gene Name

olfactory receptor 577

Synonyms

MOR7-2, GA_x6K02T2PBJ9-5685322-5684384

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R4917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102971180-102975943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102973407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 195 (I195N)

Ref Sequence

ENSEMBL: ENSMUSP00000150712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051505] [ENSMUST00000185326] [ENSMUST00000214080] [ENSMUST00000215237]

AlphaFold

Q8VH11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051505
AA Change: I195N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059586
Gene: ENSMUSG00000043354
AA Change: I195N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	312	3.3e-140	PFAM
Pfam:7TM_GPCR_Srsx	38	310	1.2e-6	PFAM
Pfam:7tm_1	44	295	7.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185326

SMART Domains

Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	300	9.7e-12	PFAM
Pfam:7tm_1	41	291	1.8e-29	PFAM
Pfam:7tm_4	140	284	2.6e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214080
AA Change: I195N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215237
AA Change: I195N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	C	9: 103,251,855	Y235*	probably null	Het
Adgrv1	C	T	13: 81,510,877	V2783I	probably benign	Het
Ago4	A	C	4: 126,506,842	C693G	probably damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arfgef3	T	A	10: 18,616,890	I1258F	probably damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	probably damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bdp1	A	T	13: 100,055,205	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Cacna1s	T	A	1: 136,101,564		probably null	Het
Casp8	T	C	1: 58,827,218	F126S	probably damaging	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cds2	A	G	2: 132,298,478	T182A	probably damaging	Het
Cfap157	C	T	2: 32,779,953	R206H	probably benign	Het
Col7a1	G	A	9: 108,966,464	G1529E	unknown	Het
Crybg3	A	G	16: 59,530,419	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,774,614	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,615,816	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,824,742		probably null	Het
Ddx50	A	T	10: 62,627,671	C414*	probably null	Het
Dip2c	T	A	13: 9,621,869		probably null	Het
Dmtn	G	T	14: 70,605,719	P283Q	probably damaging	Het
Dspp	C	A	5: 104,177,923	D717E	unknown	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Egfem1	T	C	3: 29,151,893	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Erlec1	A	G	11: 30,934,710	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Gfra1	A	T	19: 58,267,090	S308R	probably damaging	Het
Gm10764	A	G	10: 87,290,717		noncoding transcript	Het
Gm5958	C	A	14: 99,835,753		noncoding transcript	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gsdmd	A	G	15: 75,864,392	I123M	probably benign	Het
Hist1h2bl	A	T	13: 21,716,019	V42E	probably damaging	Het
Hsf4	A	G	8: 105,272,735	E235G	probably benign	Het
Ighv1-83	T	C	12: 115,963,960	I57V	probably benign	Het
Inpp5f	A	T	7: 128,685,116	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,396,760	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,472,504	C179*	probably null	Het
Lrig1	A	G	6: 94,609,719	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,901,419	D61G	probably benign	Het
March4	T	G	1: 72,428,779	S365R	probably benign	Het
Mccc1	A	G	3: 35,997,554	L32S	probably benign	Het
Mei4	A	G	9: 81,890,163	T10A	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mmp11	C	T	10: 75,925,585	A31T	probably damaging	Het
Mrps28	A	G	3: 8,882,554		probably benign	Het
Mthfsl	A	C	9: 88,715,497	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,360,371	I11V	probably damaging	Het
Ncdn	G	A	4: 126,749,938	L364F	possibly damaging	Het
Nfat5	T	A	8: 107,324,652	D47E	probably damaging	Het
Olfr1350	C	T	7: 6,570,644	L218F	possibly damaging	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Pcdhb3	A	T	18: 37,302,399	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,764,138	N754Y	probably damaging	Het
Pgbd5	C	A	8: 124,370,566	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330		probably benign	Het
Poldip3	A	T	15: 83,132,575		probably null	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Psmc3	A	G	2: 91,065,972		probably benign	Het
Rab3gap1	T	A	1: 127,889,177	W58R	possibly damaging	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rhot1	A	G	11: 80,209,201		probably benign	Het
Rsf1	T	C	7: 97,662,405	S781P	probably damaging	Het
Rtraf	T	C	14: 19,823,716	K5R	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	A	G	13: 11,594,986	V753A	probably damaging	Het
Ryr3	T	C	2: 112,831,185	H1820R	probably damaging	Het
Schip1	A	T	3: 68,408,485		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Selp	A	C	1: 164,144,906	T705P	probably damaging	Het
Sh3rf3	A	T	10: 59,007,103	D297V	probably damaging	Het
Slc24a4	T	A	12: 102,264,944		probably null	Het
Slc2a9	C	A	5: 38,417,260	L224F	probably benign	Het
Slc35e2	C	A	4: 155,616,236	P272Q	probably damaging	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Syne1	C	T	10: 5,057,909	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,665,695	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,470,316	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,293,027	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,966,521	I541N	probably benign	Het
Tmpo	A	G	10: 91,149,549	V357A	probably damaging	Het
Unc80	T	C	1: 66,646,550	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 58,008,823	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,797,398	M781K	probably damaging	Het
Vps36	T	G	8: 22,218,264	M348R	possibly damaging	Het
Vps45	T	C	3: 96,019,631	T535A	probably damaging	Het

Other mutations in Olfr577

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02246:Olfr577	APN	7	102973744	missense	possibly damaging	0.62
IGL03111:Olfr577	APN	7	102973531	missense	probably damaging	1.00
R1529:Olfr577	UTSW	7	102973879	missense	probably damaging	1.00
R1753:Olfr577	UTSW	7	102973056	missense	probably benign
R3005:Olfr577	UTSW	7	102973258	missense	possibly damaging	0.56
R4457:Olfr577	UTSW	7	102973527	missense	probably damaging	1.00
R4675:Olfr577	UTSW	7	102973806	missense	probably damaging	0.99
R4808:Olfr577	UTSW	7	102973911	missense	probably damaging	0.99
R4891:Olfr577	UTSW	7	102973552	missense	probably benign	0.12
R4918:Olfr577	UTSW	7	102973407	missense	possibly damaging	0.93
R5328:Olfr577	UTSW	7	102973968	missense	possibly damaging	0.46
R6375:Olfr577	UTSW	7	102973753	missense	probably damaging	1.00
R6683:Olfr577	UTSW	7	102973713	missense	probably benign	0.05
R6958:Olfr577	UTSW	7	102973884	missense	possibly damaging	0.67
R7022:Olfr577	UTSW	7	102973968	missense	possibly damaging	0.46
R7429:Olfr577	UTSW	7	102973762	missense	probably damaging	1.00
R7430:Olfr577	UTSW	7	102973762	missense	probably damaging	1.00
R7490:Olfr577	UTSW	7	102973810	missense	probably damaging	1.00
R7808:Olfr577	UTSW	7	102973110	missense	possibly damaging	0.56
R8169:Olfr577	UTSW	7	102973338	missense	probably damaging	0.99
R8544:Olfr577	UTSW	7	102973731	missense	probably damaging	1.00
R9027:Olfr577	UTSW	7	102973353	missense	probably damaging	1.00
R9265:Olfr577	UTSW	7	102973905	nonsense	probably null
X0027:Olfr577	UTSW	7	102973686	missense	probably benign	0.05
Z1176:Olfr577	UTSW	7	102973309	missense	not run
Z1177:Olfr577	UTSW	7	102973309	missense	not run

Predicted Primers

PCR Primer
(F):5'- ACCACCTGAACTAGATGGGG -3'
(R):5'- CACCCACACAGTGATTGTCAG -3'

Sequencing Primer
(F):5'- TTCCCAAAGCGGTGGATTAC -3'
(R):5'- CCACACAGTGATTGTCAGAATAGGTC -3'

Posted On

2016-04-15