Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Or5d47'

210024

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

039927-MU

Accession Numbers

Essential gene?

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

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87804051-87805007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87804403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 202 (V202D)

Ref Sequence

ENSEMBL: ENSMUSP00000097428 (fasta)

Gene Model

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

AlphaFold

A2BHP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099840
AA Change: V202D

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097428
Gene: ENSMUSG00000075142
AA Change: V202D

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

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,847,924 (GRCm39)	L852F	possibly damaging	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Alg11	T	G	8: 22,555,584 (GRCm39)	C240G	probably damaging	Het
Aox1	A	G	1: 58,141,783 (GRCm39)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,150,678 (GRCm39)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,528,511 (GRCm39)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,763,340 (GRCm39)	S865R	probably benign	Het
Ass1	T	A	2: 31,383,160 (GRCm39)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,187,051 (GRCm39)		probably null	Het
Btnl10	C	A	11: 58,811,367 (GRCm39)	P230Q	possibly damaging	Het
C3	A	G	17: 57,516,489 (GRCm39)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,464,032 (GRCm39)	D292E	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cic	C	A	7: 24,986,265 (GRCm39)	T1229K	probably damaging	Het
Clip4	T	C	17: 72,144,744 (GRCm39)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,739,421 (GRCm39)	I269R	probably damaging	Het
Dbh	C	T	2: 27,071,506 (GRCm39)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 70,890,713 (GRCm39)	R83*	probably null	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dnah1	A	G	14: 30,984,515 (GRCm39)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,670,721 (GRCm39)	D510E	probably benign	Het
Dock6	A	G	9: 21,752,925 (GRCm39)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,177,455 (GRCm39)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,352,737 (GRCm39)	G461V	possibly damaging	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gm10684	A	G	9: 45,021,511 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,231 (GRCm39)	E320G	probably benign	Het
Gm14412	G	T	2: 177,007,269 (GRCm39)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,007,630 (GRCm39)	S88R	probably benign	Het
Grhl1	T	A	12: 24,658,555 (GRCm39)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,664,511 (GRCm39)	Y216*	probably null	Het
Hephl1	A	C	9: 14,985,420 (GRCm39)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,301,922 (GRCm39)		probably null	Het
Hs3st6	A	G	17: 24,977,110 (GRCm39)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,357,077 (GRCm39)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,700,209 (GRCm39)	T450A	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,351,634 (GRCm39)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,321,291 (GRCm39)	I58F	probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,308 (GRCm39)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,131,023 (GRCm39)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,691,295 (GRCm39)	M262K	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2r11	C	T	6: 42,437,360 (GRCm39)	V198M	probably benign	Het
Or2t26	A	C	11: 49,039,101 (GRCm39)	N6H	possibly damaging	Het
Or4c115	G	A	2: 88,927,888 (GRCm39)	P128S	probably damaging	Het
Pabpc4	G	T	4: 123,182,861 (GRCm39)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,638,885 (GRCm39)	D58E	probably benign	Het
Rgl2	A	G	17: 34,151,122 (GRCm39)	T117A	probably benign	Het
Rp1	A	G	1: 4,418,943 (GRCm39)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,207,536 (GRCm39)	E233G	probably damaging	Het
Skint6	T	A	4: 112,749,187 (GRCm39)	S798C	probably benign	Het
Slc35f1	T	C	10: 52,898,000 (GRCm39)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,485,373 (GRCm39)	N246S	probably damaging	Het
Slc7a2	T	C	8: 41,369,534 (GRCm39)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,761,173 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,439,330 (GRCm39)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm39)	I227T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Ssu2	A	T	6: 112,361,388 (GRCm39)	L23M	probably benign	Het
Syne2	A	G	12: 76,141,053 (GRCm39)		probably null	Het
Tekt1	T	C	11: 72,242,761 (GRCm39)	T249A	probably benign	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,605,846 (GRCm39)	P529L	probably damaging	Het
Tll1	C	T	8: 64,478,141 (GRCm39)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,598,664 (GRCm39)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,673,479 (GRCm39)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,026 (GRCm39)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,601,650 (GRCm39)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,945,436 (GRCm39)	T724A	probably benign	Het
Wdr11	T	C	7: 129,206,954 (GRCm39)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,107,047 (GRCm39)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,381,897 (GRCm39)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,159,987 (GRCm39)	M1R	probably null	Het
Zkscan8	G	A	13: 21,709,325 (GRCm39)	P191L	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAATTCTTAGAGTTGGGCAC -3'
(R):5'- AGCCATGTCCCAGAAACTCTG -3'

Sequencing Primer
(F):5'- GTGGAGAAAGCCTTACGA -3'
(R):5'- CAGAAACTCTGTATCACACTGGTGG -3'

Posted On

2014-06-30