Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Or5d47'

505357

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

044365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87804051-87805007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87804931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 26 (V26A)

Ref Sequence

ENSEMBL: ENSMUSP00000097428 (fasta)

Gene Model

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

AlphaFold

A2BHP6

Predicted Effect

probably benign
Transcript: ENSMUST00000099840
AA Change: V26A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: V26A

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

0.0746

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,336,530 (GRCm39)	E788G	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,446,288 (GRCm39)	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,530,963 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,856,380 (GRCm39)	K300E	probably benign	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph4a	A	T	10: 33,785,139 (GRCm39)	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	probably damaging	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
R4807:Or5d47	UTSW	2	87,804,095 (GRCm39)	missense	probably benign	0.00
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
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'- TTTGCAACAAGGTTCACCAGC -3'
(R):5'- GAATCAAGTACACAGGCAATGC -3'

Sequencing Primer
(F):5'- AAGGTTCACCAGCATCTTGG -3'
(R):5'- AGGCAATGCACACTTTACTTATCC -3'

Posted On

2018-02-28