Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Olfr857'

598581

Institutional Source

Beutler Lab

Gene Symbol

Olfr857

Ensembl Gene

ENSMUSG00000094678

Gene Name

olfactory receptor 857

Synonyms

MOR146-8P, GA_x6K02T2PVTD-13452606-13453535

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19709433-19714930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19713471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 215 (F215I)

Ref Sequence

ENSEMBL: ENSMUSP00000148617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077023] [ENSMUST00000212013] [ENSMUST00000217450]

AlphaFold

A0A1L1SUS1

Predicted Effect

probably benign
Transcript: ENSMUST00000077023
AA Change: F215I

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

SMART Domains

Protein: ENSMUSP00000076281
Gene: ENSMUSG00000094678
AA Change: F215I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.5e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.5e-5	PFAM
Pfam:7tm_1	41	290	9.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212013
AA Change: F215I

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

Predicted Effect

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,239,191	A1287T	probably damaging	Het
Ahnak	A	G	19: 9,015,047	K4565R	probably damaging	Het
Asb13	A	G	13: 3,649,463	Y221C	probably damaging	Het
BB014433	C	T	8: 15,042,395	V153M	probably damaging	Het
Brip1	T	C	11: 86,062,024	E977G	probably benign	Het
C3	T	A	17: 57,215,797	D1029V	probably damaging	Het
Ccdc116	T	C	16: 17,139,591	E568G	probably benign	Het
Cdhr2	T	C	13: 54,718,275	V296A	probably damaging	Het
Cenpe	A	G	3: 135,240,941		probably null	Het
Cnot1	A	G	8: 95,765,125	V357A	probably damaging	Het
Coa3	A	T	11: 101,278,815	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,791,746	N255S	probably benign	Het
Cysrt1	T	C	2: 25,239,225	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,713,478	E52G	possibly damaging	Het
Derl1	T	C	15: 57,880,040	D97G	probably damaging	Het
Ebf3	A	G	7: 137,309,363	Y141H	probably damaging	Het
Eci1	T	A	17: 24,433,151	L49*	probably null	Het
Fam208a	A	G	14: 27,467,559	T923A	probably damaging	Het
Gm7534	A	T	4: 134,195,443	N526K	probably benign	Het
Gzma	C	T	13: 113,098,295	C54Y	probably damaging	Het
Hydin	A	G	8: 110,565,085	N3403S	probably damaging	Het
Ide	T	C	19: 37,298,126	N495D		Het
Ighv1-23	T	A	12: 114,764,736	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,426,972	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,446,937	H272N	probably damaging	Het
Lrp6	C	T	6: 134,462,616	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,866,476	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,690,608	E121G	probably damaging	Het
Mzt1	A	T	14: 99,040,576	I52N	probably damaging	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr617	A	G	7: 103,584,090	I23V	probably benign	Het
Pcdhb17	A	C	18: 37,486,909	Y584S	possibly damaging	Het
Per3	A	T	4: 151,026,200	D380E	probably damaging	Het
Per3	A	T	4: 151,041,445	L139Q	probably damaging	Het
Pik3cg	T	C	12: 32,204,014	H658R	probably benign	Het
Pitpnm3	G	A	11: 72,061,488	Q626*	probably null	Het
Polr3e	T	C	7: 120,940,578	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,078	H866L	possibly damaging	Het
Rnf150	A	G	8: 82,864,203	E65G	probably benign	Het
Sema3f	C	A	9: 107,692,426	R100L	possibly damaging	Het
Smim18	T	C	8: 33,742,342	D83G	possibly damaging	Het
Snx13	T	A	12: 35,124,528	D685E	probably benign	Het
Stat5a	A	C	11: 100,863,219	N125T	probably benign	Het
Stk24	T	C	14: 121,337,633	E21G	probably damaging	Het
Tlr3	C	T	8: 45,403,039	V35I	probably benign	Het
Tmem8	T	C	17: 26,122,073	Y717H	probably damaging	Het
Tmprss11b	A	T	5: 86,661,695		probably null	Het
Trpm2	T	C	10: 77,932,179	I829V	probably benign	Het
Ttc37	A	G	13: 76,135,030	H792R	probably benign	Het
Ttc39a	T	C	4: 109,431,450	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,067,198		probably null	Het
Wdr73	G	A	7: 80,893,227	A211V	probably benign	Het
Zc3h4	T	C	7: 16,429,899	V673A	unknown	Het
Zfp382	A	G	7: 30,133,335	H137R	probably damaging	Het
Zp2	T	G	7: 120,143,642	D89A	probably damaging	Het
Zranb3	A	C	1: 128,032,868	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,712,980	V316I	probably damaging	Het

Other mutations in Olfr857

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Olfr857	APN	9	19713279	missense	probably benign	0.00
IGL01919:Olfr857	APN	9	19713342	missense	probably benign	0.00
IGL02157:Olfr857	APN	9	19713289	missense	probably benign	0.07
IGL02550:Olfr857	APN	9	19713047	missense	possibly damaging	0.92
IGL03329:Olfr857	APN	9	19713301	missense	probably benign	0.16
IGL02799:Olfr857	UTSW	9	19713018	missense	probably damaging	0.99
R0356:Olfr857	UTSW	9	19713447	missense	probably damaging	1.00
R0927:Olfr857	UTSW	9	19713649	missense	probably benign	0.39
R1161:Olfr857	UTSW	9	19713180	missense	probably damaging	1.00
R1848:Olfr857	UTSW	9	19713090	missense	probably benign	0.01
R5191:Olfr857	UTSW	9	19713334	missense	probably damaging	0.98
R5216:Olfr857	UTSW	9	19713289	missense	probably benign	0.07
R5259:Olfr857	UTSW	9	19712813	splice site	probably null
R5342:Olfr857	UTSW	9	19713037	missense	probably damaging	1.00
R5506:Olfr857	UTSW	9	19713274	missense	possibly damaging	0.61
R5526:Olfr857	UTSW	9	19713698	nonsense	probably null
R5594:Olfr857	UTSW	9	19713006	missense	probably damaging	0.99
R5928:Olfr857	UTSW	9	19713753	missense	probably benign	0.02
R6569:Olfr857	UTSW	9	19713342	missense	probably benign	0.00
R6858:Olfr857	UTSW	9	19713469	missense	probably damaging	0.98
R7077:Olfr857	UTSW	9	19713132	missense	probably benign
R7378:Olfr857	UTSW	9	19712887	missense	probably damaging	1.00
R8038:Olfr857	UTSW	9	19713680	missense	possibly damaging	0.52
R8160:Olfr857	UTSW	9	19712789	intron	probably benign
R8223:Olfr857	UTSW	9	19713409	missense	probably benign
R8400:Olfr857	UTSW	9	19713093	missense	probably benign	0.45
R8780:Olfr857	UTSW	9	19713357	missense	possibly damaging	0.92
R8946:Olfr857	UTSW	9	19713589	missense	probably damaging	0.99
R9164:Olfr857	UTSW	9	19713658	missense	probably benign	0.25
R9475:Olfr857	UTSW	9	19713643	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGCCCTTGCCTCTGTAGATG -3'
(R):5'- GACCATACTTTCCCTGGAAGAAC -3'

Sequencing Primer
(F):5'- CCCTTGCCTCTGTAGATGTTTGG -3'
(R):5'- TTCCCTGGAAGAACTAGAAACTGTG -3'

Posted On

2019-11-26