Mutagenetix > Incidental Mutations

Incidental Mutation 'R7254:Olfr564'

564137

Institutional Source

Beutler Lab

Gene Symbol

Olfr564

Ensembl Gene

ENSMUSG00000048469

Gene Name

olfactory receptor 564

Synonyms

GA_x6K02T2PBJ9-5513635-5514627, MOR14-10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102803480-102804430 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102803558 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 27 (T27A)

Ref Sequence

ENSEMBL: ENSMUSP00000129376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061096]

Predicted Effect

probably benign
Transcript: ENSMUST00000061096
AA Change: T27A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129376
Gene: ENSMUSG00000048469
AA Change: T27A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3.6e-117	PFAM
Pfam:7TM_GPCR_Srsx	38	256	4.7e-8	PFAM
Pfam:7tm_1	43	294	2.5e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,741,976	I677V	probably benign	Het
4931406B18Rik	A	T	7: 43,498,199	D249E	probably damaging	Het
Acacb	A	C	5: 114,209,751		probably null	Het
Adnp	A	G	2: 168,183,998	V459A	probably damaging	Het
Arid3b	T	C	9: 57,796,754	K304E	probably damaging	Het
Ash1l	G	T	3: 89,070,509	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,414,763	D490E	probably benign	Het
Cacna1g	A	T	11: 94,432,567	C1270*	probably null	Het
Cep295nl	G	T	11: 118,333,040	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,406,061	I377V	unknown	Het
Creb1	C	T	1: 64,576,277	Q223*	probably null	Het
Ctsc	G	A	7: 88,309,559	G349D	probably damaging	Het
Ddx41	G	A	13: 55,533,956	R311*	probably null	Het
Dse	T	A	10: 34,184,148		probably benign	Het
Eef2k	C	T	7: 120,889,265	H458Y	probably benign	Het
Gipr	A	T	7: 19,163,613	V90E	probably damaging	Het
Gm14412	A	T	2: 177,317,396	D22E	probably damaging	Het
Gm17018	A	G	19: 45,577,034	Q149R	probably benign	Het
Gm21886	A	T	18: 80,089,735	C69*	probably null	Het
Gm5114	G	A	7: 39,408,966	L410F	probably benign	Het
Gmip	T	A	8: 69,816,468		probably null	Het
Gtf2f1	T	C	17: 57,007,101	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,332,575	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,698,374	W107R	probably damaging	Het
Iars	T	C	13: 49,723,078		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ifi213	G	T	1: 173,593,963	P120Q	probably damaging	Het
Il6	A	T	5: 30,014,908	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,319,487	S196G	probably benign	Het
Kcnv1	C	T	15: 45,113,208	V228I	probably benign	Het
Lars2	A	G	9: 123,454,963	T739A	possibly damaging	Het
Med13	T	C	11: 86,319,835	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Myh9	T	G	15: 77,765,824	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,450,466	S171R	probably benign	Het
Olfr143	T	C	9: 38,253,423	M2T	probably benign	Het
Olfr1467	A	T	19: 13,365,111	D161V	probably benign	Het
Olfr376	A	G	11: 73,375,375	I212V	probably benign	Het
Olfr398	A	G	11: 73,983,777	V277A	probably benign	Het
Olfr702	A	G	7: 106,823,570	*319Q	probably null	Het
Olfr785	T	C	10: 129,409,780	V138A	probably benign	Het
Pak7	A	T	2: 136,116,764	S135T	possibly damaging	Het
Prr29	A	T	11: 106,374,858	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,594,636	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,695,193	H1310L	probably damaging	Het
Raph1	T	C	1: 60,499,608	S393G	unknown	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ror2	A	G	13: 53,118,720	I303T	possibly damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn10a	C	T	9: 119,618,855	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,993,618	C91S	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tada1	T	A	1: 166,388,648	C139*	probably null	Het
Tbr1	T	A	2: 61,806,042	V254E	probably damaging	Het
Timd4	A	T	11: 46,843,189	I340F	probably benign	Het
Tubb2a	T	C	13: 34,074,532	Y425C	probably damaging	Het
Wdr60	A	G	12: 116,262,585		probably benign	Het
Zfp292	A	T	4: 34,819,476	M287K	probably damaging	Het

Other mutations in Olfr564

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Olfr564	APN	7	102803854	nonsense	probably null
IGL03248:Olfr564	APN	7	102803639	nonsense	probably null
R1108:Olfr564	UTSW	7	102803850	missense	probably benign	0.08
R1395:Olfr564	UTSW	7	102804207	missense	possibly damaging	0.90
R1422:Olfr564	UTSW	7	102803850	missense	probably benign	0.08
R4032:Olfr564	UTSW	7	102804189	missense	probably benign	0.00
R5168:Olfr564	UTSW	7	102804321	missense	probably benign
R5269:Olfr564	UTSW	7	102804120	missense	probably benign
R5639:Olfr564	UTSW	7	102803993	missense	probably benign
R5930:Olfr564	UTSW	7	102804274	missense	probably damaging	1.00
R6019:Olfr564	UTSW	7	102804284	nonsense	probably null
R7206:Olfr564	UTSW	7	102803684	missense	probably damaging	1.00
R7845:Olfr564	UTSW	7	102804285	missense	not run
R8036:Olfr564	UTSW	7	102803556	missense	possibly damaging	0.87
R8730:Olfr564	UTSW	7	102804141	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATTTGGCCTGAGCATGATAAG -3'
(R):5'- AATATCCCCAGCATGGTGGC -3'

Sequencing Primer
(F):5'- GGCCTGAGCATGATAAGAATTATAAC -3'
(R):5'- CAGCATGGTGGCCAGAGTG -3'

Posted On

2019-06-26