Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Or5d47'

288750

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

87804051-87805007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87804409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 200 (L200Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097428 (fasta)

Gene Model

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

AlphaFold

A2BHP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000099840
AA Change: L200Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: L200Q

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

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	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
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
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

Posted On

2015-04-16