Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Or5d47'

370727

Institutional Source

Beutler Lab

Gene Symbol

Or5d47

Ensembl Gene

ENSMUSG00000075142

Gene Name

olfactory receptor family 5 subfamily D member 47

Synonyms

GA_x6K02T2Q125-49458388-49457432, MOR174-4, mOR-EV, Olfr74

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87804051-87805007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87804095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 305 (I305L)

Ref Sequence

ENSEMBL: ENSMUSP00000097428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099840]

AlphaFold

A2BHP6

Predicted Effect

probably benign
Transcript: ENSMUST00000099840
AA Change: I305L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: I305L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	5.4e-47	PFAM
Pfam:7tm_1	42	291	2e-17	PFAM

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	Het

Other mutations in Or5d47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Or5d47	APN	2	87,804,895 (GRCm39)	missense	probably benign	0.27
IGL02119:Or5d47	APN	2	87,804,754 (GRCm39)	missense	probably benign	0.38
IGL02332:Or5d47	APN	2	87,804,409 (GRCm39)	missense	probably damaging	1.00
IGL02626:Or5d47	APN	2	87,804,068 (GRCm39)	missense	probably benign
IGL03022:Or5d47	APN	2	87,804,341 (GRCm39)	missense	probably benign	0.00
R1015:Or5d47	UTSW	2	87,804,431 (GRCm39)	missense	probably benign	0.03
R1908:Or5d47	UTSW	2	87,804,403 (GRCm39)	missense	possibly damaging	0.66
R2358:Or5d47	UTSW	2	87,804,066 (GRCm39)	missense	probably benign	0.02
R3711:Or5d47	UTSW	2	87,804,066 (GRCm39)	missense	probably benign	0.02
R4646:Or5d47	UTSW	2	87,804,142 (GRCm39)	missense	probably benign	0.18
R5026:Or5d47	UTSW	2	87,804,364 (GRCm39)	missense	probably damaging	1.00
R5928:Or5d47	UTSW	2	87,804,380 (GRCm39)	missense	probably benign	0.06
R6010:Or5d47	UTSW	2	87,804,886 (GRCm39)	missense	probably damaging	0.98
R6243:Or5d47	UTSW	2	87,804,931 (GRCm39)	missense	probably benign	0.00
R6534:Or5d47	UTSW	2	87,804,385 (GRCm39)	missense	probably benign	0.00
R6848:Or5d47	UTSW	2	87,804,514 (GRCm39)	missense	possibly damaging	0.52
R8422:Or5d47	UTSW	2	87,804,143 (GRCm39)	missense	probably benign
R8822:Or5d47	UTSW	2	87,804,785 (GRCm39)	missense	possibly damaging	0.83
R8824:Or5d47	UTSW	2	87,804,347 (GRCm39)	missense	probably benign	0.01
R9375:Or5d47	UTSW	2	87,804,526 (GRCm39)	missense	possibly damaging	0.89
R9523:Or5d47	UTSW	2	87,804,945 (GRCm39)	nonsense	probably null
R9665:Or5d47	UTSW	2	87,804,596 (GRCm39)	missense	possibly damaging	0.63
R9785:Or5d47	UTSW	2	87,804,245 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTCTAAGTTTTGAGGACCTAACTC -3'
(R):5'- CGTAAGGCTTTCTCCACCTGTG -3'

Sequencing Primer
(F):5'- TTTTGAGGACCTAACTCTAAGTTTTG -3'
(R):5'- ACCTGTGCATCCCACCTGG -3'

Posted On

2016-02-04