Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:Olfr743'

327513

Institutional Source

Beutler Lab

Gene Symbol

Olfr743

Ensembl Gene

ENSMUSG00000094285

Gene Name

olfactory receptor 743

Synonyms

Olfr264, GA_x6K02T2PMLR-6243196-6244132, MOR106-8P, GA_x6K02T2N6FY-3870-3385, GA_x6K02T2N6FY-2320-2039, MOR106-14, Olfr265, Olfr743-ps1

MMRRC Submission

041108-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50521839-50534955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50533759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 116 (C116R)

Ref Sequence

ENSEMBL: ENSMUSP00000150946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071294] [ENSMUST00000215793]

AlphaFold

L7N1Y2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071294
AA Change: C116R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071263
Gene: ENSMUSG00000094285
AA Change: C116R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	1.6e-56	PFAM
Pfam:7tm_1	45	294	1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215793
AA Change: C116R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.5333

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 43,570,185	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,543,662	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,839,152	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,548,494	F173L	probably null	Het
Arntl	A	G	7: 113,303,406	I421V	possibly damaging	Het
Bcl3	G	T	7: 19,811,580	C208*	probably null	Het
Casz1	T	C	4: 148,952,335	S1685P	unknown	Het
Cep250	A	G	2: 155,991,525	E1789G	probably damaging	Het
Cep76	A	T	18: 67,626,640	D334E	probably benign	Het
Clca3b	A	T	3: 144,825,458		probably null	Het
Col9a3	A	G	2: 180,606,478	S208G	probably benign	Het
Ddx47	T	C	6: 135,021,505	V388A	probably benign	Het
Dync1h1	C	T	12: 110,632,899	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 78,858,534	R411S	probably benign	Het
F7	A	G	8: 13,034,774	T267A	probably benign	Het
Fras1	C	A	5: 96,700,242	D1770E	probably benign	Het
G2e3	T	A	12: 51,365,337	Y387N	probably benign	Het
Hspg2	C	T	4: 137,529,418	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,253,640	I110M	probably benign	Het
Itgb5	T	A	16: 33,844,997	C28S	probably damaging	Het
Kbtbd11	C	A	8: 15,028,578	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,473,284	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,970,833	C721Y	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klrc3	T	C	6: 129,639,162	M189V	probably benign	Het
Macf1	T	A	4: 123,475,091	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 48,198,701	G160R	possibly damaging	Het
Myb	A	G	10: 21,152,617	S116P	probably damaging	Het
Nf2	G	A	11: 4,780,613	Q513*	probably null	Het
Nmnat3	C	T	9: 98,410,152	T150M	possibly damaging	Het
Olfr361	C	A	2: 37,084,930	V273F	probably benign	Het
Patj	T	G	4: 98,650,454	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,416,287	H246R	probably benign	Het
Pnp2	A	G	14: 50,959,625	H56R	probably benign	Het
Prkg1	A	G	19: 30,569,229		probably benign	Het
Rhbdf1	C	T	11: 32,216,236	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,209,692	K327E	possibly damaging	Het
Rnf219	A	G	14: 104,479,257	V560A	probably benign	Het
Rsph6a	T	A	7: 19,067,078		probably null	Het
Ryr2	T	C	13: 11,649,812	N3535S	probably benign	Het
Ssfa2	A	G	2: 79,641,998	N132S	probably benign	Het
Ston1	T	G	17: 88,637,008	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,980,181	I262N	probably benign	Het
Tmtc1	T	C	6: 148,355,098		probably benign	Het
Tshz2	G	A	2: 169,884,938	E16K	possibly damaging	Het
Ufsp2	T	A	8: 45,985,465	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,139,763	E182*	probably null	Het
Usp43	A	G	11: 67,891,464	V376A	probably benign	Het
Utp15	A	T	13: 98,259,247	F76I	possibly damaging	Het
Wdr62	A	C	7: 30,242,248	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,172,162	M18K	probably benign	Het

Other mutations in Olfr743

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Olfr743	APN	14	50533949	missense	probably damaging	1.00
IGL01551:Olfr743	APN	14	50534161	missense	probably benign
IGL02024:Olfr743	APN	14	50533850	missense	probably benign	0.00
IGL02867:Olfr743	APN	14	50533513	missense	probably benign
IGL02889:Olfr743	APN	14	50533513	missense	probably benign
IGL03195:Olfr743	APN	14	50533420	missense	probably benign
IGL03296:Olfr743	APN	14	50533945	missense	possibly damaging	0.90
R0049:Olfr743	UTSW	14	50533694	missense	probably damaging	1.00
R0049:Olfr743	UTSW	14	50533694	missense	probably damaging	1.00
R0102:Olfr743	UTSW	14	50533631	missense	probably damaging	1.00
R0556:Olfr743	UTSW	14	50533924	missense	probably benign	0.01
R0626:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R0661:Olfr743	UTSW	14	50534095	missense	probably benign
R0759:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R0761:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R0894:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1109:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1110:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1312:Olfr743	UTSW	14	50534195	missense	probably benign
R1446:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1470:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1470:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1502:Olfr743	UTSW	14	50533777	missense	possibly damaging	0.47
R1518:Olfr743	UTSW	14	50534165	missense	probably damaging	1.00
R1529:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1624:Olfr743	UTSW	14	50533643	missense	probably damaging	1.00
R1646:Olfr743	UTSW	14	50533583	missense	probably benign	0.01
R1687:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R1795:Olfr743	UTSW	14	50533702	missense	possibly damaging	0.78
R2011:Olfr743	UTSW	14	50533684	missense	probably damaging	1.00
R2120:Olfr743	UTSW	14	50533946	missense	probably damaging	1.00
R2697:Olfr743	UTSW	14	50533781	missense	probably damaging	1.00
R2857:Olfr743	UTSW	14	50533440	missense	probably benign	0.19
R2858:Olfr743	UTSW	14	50533440	missense	probably benign	0.19
R3906:Olfr743	UTSW	14	50533754	missense	probably benign	0.03
R4327:Olfr743	UTSW	14	50533514	missense	probably benign	0.05
R4663:Olfr743	UTSW	14	50533604	missense	probably damaging	1.00
R5214:Olfr743	UTSW	14	50534347	makesense	probably null
R5964:Olfr743	UTSW	14	50534198	missense	probably damaging	0.99
R6148:Olfr743	UTSW	14	50534321	missense	probably benign	0.00
R6167:Olfr743	UTSW	14	50534155	missense	probably damaging	1.00
R6301:Olfr743	UTSW	14	50534254	missense	probably benign	0.02
R6616:Olfr743	UTSW	14	50533907	missense	probably benign	0.43
R6910:Olfr743	UTSW	14	50533873	missense	probably benign	0.31
R7076:Olfr743	UTSW	14	50533821	nonsense	probably null
R7483:Olfr743	UTSW	14	50534015	missense	probably benign	0.06
R7574:Olfr743	UTSW	14	50534313	missense	probably benign	0.01
R7731:Olfr743	UTSW	14	50533684	missense	probably damaging	0.99
R8691:Olfr743	UTSW	14	50533453	missense	probably benign	0.01
R9072:Olfr743	UTSW	14	50533754	missense	probably benign	0.03
R9073:Olfr743	UTSW	14	50533754	missense	probably benign	0.03
R9321:Olfr743	UTSW	14	50534014	missense	probably benign	0.01
R9478:Olfr743	UTSW	14	50533594	missense	probably benign	0.01
R9557:Olfr743	UTSW	14	50534095	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGATCAGAGACTCCACACC -3'
(R):5'- CAAAAGAGGACCTGGGTCACAC -3'

Sequencing Primer
(F):5'- ACACCCCCATGTACCTCCTG -3'
(R):5'- GTGGTCTATAATTCTGGACCCACAG -3'

Posted On

2015-07-07