Mutagenetix > Incidental Mutation

Incidental Mutation 'R4808:Olfr577'

370834

Institutional Source

Beutler Lab

Gene Symbol

Olfr577

Ensembl Gene

ENSMUSG00000043354

Gene Name

olfactory receptor 577

Synonyms

MOR7-2, GA_x6K02T2PBJ9-5685322-5684384

MMRRC Submission

042427-MU

Accession Numbers

Essential gene?

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

Stock #

R4808 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102971180-102975943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102973911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 27 (H27R)

Ref Sequence

ENSEMBL: ENSMUSP00000150712 (fasta)

Gene Model

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

AlphaFold

Q8VH11

Predicted Effect

probably damaging
Transcript: ENSMUST00000051505
AA Change: H27R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059586
Gene: ENSMUSG00000043354
AA Change: H27R

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

probably damaging
Transcript: ENSMUST00000214080
AA Change: H27R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215237
AA Change: H27R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.5191

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (71/72)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
Abi3bp	A	G	16: 56,594,516	D347G	probably damaging	Het
Adora2a	A	G	10: 75,333,446	N248S	probably damaging	Het
Agap3	T	C	5: 24,501,245	F836L	probably benign	Het
Arap2	G	A	5: 62,730,641	T454M	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atm	A	G	9: 53,445,495	S2819P	probably damaging	Het
Atp8b1	A	G	18: 64,561,711	F500S	probably benign	Het
Catsper1	G	A	19: 5,344,136	D682N	possibly damaging	Het
Ccdc105	A	T	10: 78,752,864	D37E	probably benign	Het
Chordc1	A	G	9: 18,292,413	Y6C	probably damaging	Het
Cped1	A	G	6: 22,088,757	K273R	probably damaging	Het
Crat	T	C	2: 30,410,021	I116V	probably benign	Het
Cyp26a1	A	G	19: 37,701,125	H423R	probably benign	Het
Cyp4f40	A	G	17: 32,674,275	E360G	probably benign	Het
D430041D05Rik	A	C	2: 104,201,110		probably null	Het
Eif3i	A	T	4: 129,592,064	F323I	probably benign	Het
Fam53a	A	G	5: 33,607,679	S228P	probably damaging	Het
Gm10305	C	T	4: 99,273,244		noncoding transcript	Het
Gm7347	C	T	5: 26,054,997	R185H	probably benign	Het
Golga2	G	T	2: 32,303,214	A441S	probably benign	Het
Gphn	T	A	12: 78,654,880	S608T	probably benign	Het
Gramd1b	A	T	9: 40,304,349	V620E	possibly damaging	Het
H2-M9	T	C	17: 36,640,792	T264A	probably damaging	Het
Hist2h2bb	T	G	3: 96,270,013	S88A	probably benign	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hsd3b6	G	A	3: 98,806,285	H233Y	probably damaging	Het
Ighv6-7	T	A	12: 114,455,721	R88*	probably null	Het
Jup	C	T	11: 100,378,192	R465H	probably damaging	Het
Kif16b	A	T	2: 142,857,358	Y101N	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Mapkap1	G	A	2: 34,597,422		probably null	Het
Myocos	T	C	1: 162,657,040		probably benign	Het
Nav1	C	T	1: 135,455,204	G1197S	probably damaging	Het
Oas1g	T	G	5: 120,879,322	K223T	possibly damaging	Het
Olfr293	A	G	7: 86,663,938	D92G	probably benign	Het
Oprd1	G	A	4: 132,117,394	T101M	probably damaging	Het
Pcdha7	G	A	18: 36,974,228	C102Y	probably damaging	Het
Pcx	T	A	19: 4,620,928	S1086T	probably benign	Het
Pde8a	A	G	7: 81,282,931	T114A	probably benign	Het
Pias4	A	G	10: 81,155,840		probably null	Het
Pkn3	G	A	2: 30,090,081	G750E	probably damaging	Het
Pramel5	G	A	4: 144,272,755	A254V	probably benign	Het
Ptprq	A	G	10: 107,718,507	L119P	probably damaging	Het
Rasgrf2	A	T	13: 92,023,682	L395Q	probably damaging	Het
Rbm19	T	C	5: 120,118,774	S51P	probably damaging	Het
Rfx5	A	G	3: 94,958,280	T297A	probably benign	Het
Scaf1	T	C	7: 45,008,639	E272G	probably damaging	Het
Slc24a2	G	T	4: 87,032,238	Q396K	probably benign	Het
Slc39a14	T	C	14: 70,315,801	I162V	probably damaging	Het
Snap25	A	G	2: 136,770,102	D70G	probably damaging	Het
Spata31d1b	C	T	13: 59,715,721	P228S	probably benign	Het
Sppl3	T	A	5: 115,083,426		probably benign	Het
Sspo	A	G	6: 48,451,161	D314G	probably damaging	Het
Steap1	G	T	5: 5,738,829		probably benign	Het
Suox	T	A	10: 128,671,889	D90V	possibly damaging	Het
Sycp2	T	C	2: 178,393,961		probably benign	Het
Tln2	G	T	9: 67,331,733	T1087K	probably benign	Het
Uap1l1	A	G	2: 25,362,085	S473P	probably damaging	Het
Xpo5	T	A	17: 46,235,970	N882K	probably benign	Het
Zfp536	A	T	7: 37,479,305	C228S	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
R4891:Olfr577	UTSW	7	102973552	missense	probably benign	0.12
R4917:Olfr577	UTSW	7	102973407	missense	possibly damaging	0.93
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'- AGATGCCTAGCACTGTAGGG -3'
(R):5'- CTCTTCAGAGACTATACAGGCTTAGG -3'

Sequencing Primer
(F):5'- CCTAGCACTGTAGGGAGGGTAC -3'
(R):5'- GACTATACAGGCTTAGGATTATTTGG -3'

Posted On

2016-02-04