Mutagenetix > Incidental Mutation

Incidental Mutation 'R6490:P2ry6'

522762

Institutional Source

Beutler Lab

Gene Symbol

P2ry6

Ensembl Gene

ENSMUSG00000048779

Gene Name

pyrimidinergic receptor P2Y, G-protein coupled, 6

Synonyms

2010204J23Rik, P2Y6

MMRRC Submission

044622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100586837-100623856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100587580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 260 (T260A)

Ref Sequence

ENSEMBL: ENSMUSP00000055697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060174]

AlphaFold

Q9ERK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000060174
AA Change: T260A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055697
Gene: ENSMUSG00000048779
AA Change: T260A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	33	270	2.6e-6	PFAM
Pfam:7tm_1	43	301	1.1e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209196

Meta Mutation Damage Score

0.3735

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal macrophage, endothelial, and vascular smooth muscle response to UTP and UDP. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	T	G	8: 122,267,293 (GRCm39)	K38T	probably benign	Het
Abca13	A	G	11: 9,248,661 (GRCm39)	T2803A	probably benign	Het
Adam23	A	G	1: 63,596,613 (GRCm39)	D565G	probably damaging	Het
Adcy3	A	G	12: 4,262,150 (GRCm39)	T1067A	probably damaging	Het
Agrn	A	T	4: 156,251,819 (GRCm39)	Y1921*	probably null	Het
Apc2	A	G	10: 80,149,757 (GRCm39)	N1604D	probably benign	Het
Atxn7	A	T	14: 14,089,446 (GRCm38)	R321*	probably null	Het
Axin1	T	A	17: 26,361,968 (GRCm39)	I104N	probably damaging	Het
Bahd1	T	C	2: 118,747,619 (GRCm39)	S413P	probably benign	Het
Baz2b	C	T	2: 59,732,073 (GRCm39)	C2024Y	probably damaging	Het
Cacna1i	T	A	15: 80,262,448 (GRCm39)	V1388E	probably damaging	Het
Ces4a	G	A	8: 105,876,090 (GRCm39)	V544M	probably benign	Het
Cntn3	G	A	6: 102,255,301 (GRCm39)	T199I	probably damaging	Het
Col6a4	A	T	9: 105,952,191 (GRCm39)	L569*	probably null	Het
Ctnna2	A	G	6: 77,120,892 (GRCm39)	I12T	probably benign	Het
Dhx37	A	G	5: 125,496,196 (GRCm39)	M754T	probably benign	Het
Dmrt1	T	A	19: 25,523,395 (GRCm39)	S249T	possibly damaging	Het
Ell	G	T	8: 71,025,553 (GRCm39)	S59I	probably damaging	Het
Fam89a	G	A	8: 125,467,982 (GRCm39)	S110F	probably damaging	Het
Fer1l4	A	C	2: 155,889,834 (GRCm39)	F278V	possibly damaging	Het
Fyn	T	C	10: 39,427,398 (GRCm39)	I427T	probably damaging	Het
Galnt14	T	C	17: 73,832,365 (GRCm39)	D250G	probably damaging	Het
Glp1r	T	C	17: 31,143,546 (GRCm39)	V194A	probably damaging	Het
Glt1d1	T	A	5: 127,721,360 (GRCm39)		probably null	Het
Gm7995	A	G	14: 42,133,327 (GRCm39)	K69R	probably benign	Het
Grip1	A	G	10: 119,822,329 (GRCm39)	T379A	possibly damaging	Het
Gtpbp2	G	T	17: 46,479,147 (GRCm39)	A570S	probably benign	Het
Hmcn1	T	C	1: 150,459,029 (GRCm39)	I5192V	probably benign	Het
Igfl3	A	T	7: 17,913,844 (GRCm39)	I65F	possibly damaging	Het
Igsf10	G	T	3: 59,236,992 (GRCm39)	T1063K	probably benign	Het
Itfg1	A	G	8: 86,466,930 (GRCm39)	V381A	probably benign	Het
Itprid1	A	G	6: 55,953,405 (GRCm39)	D907G	probably damaging	Het
Jmjd8	T	A	17: 26,048,086 (GRCm39)	V16E	probably benign	Het
Kank1	A	G	19: 25,387,449 (GRCm39)	Y374C	probably damaging	Het
Kcnma1	C	T	14: 23,386,165 (GRCm39)	V891I	possibly damaging	Het
Kif20a	C	A	18: 34,762,543 (GRCm39)	T472K	possibly damaging	Het
Klhl32	A	T	4: 24,711,578 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,347,486 (GRCm39)	S3070P	unknown	Het
Mettl21e	T	G	1: 44,249,425 (GRCm39)	Y77S	probably damaging	Het
Mlst8	G	T	17: 24,696,935 (GRCm39)	D82E	probably benign	Het
Mrgprx2	A	T	7: 48,132,617 (GRCm39)	L67Q	probably damaging	Het
Mylk	T	A	16: 34,750,237 (GRCm39)	L1192Q	possibly damaging	Het
Myt1l	A	T	12: 29,882,365 (GRCm39)	Y520F	unknown	Het
Naip2	A	T	13: 100,297,193 (GRCm39)	W948R	probably benign	Het
Nlrp9a	A	C	7: 26,250,311 (GRCm39)	K25N	probably damaging	Het
Nsd3	T	C	8: 26,204,212 (GRCm39)	C414R	probably damaging	Het
Oit3	A	T	10: 59,274,374 (GRCm39)	V142D	possibly damaging	Het
Or2aj6	C	T	16: 19,443,194 (GRCm39)	V219M	probably benign	Het
Papola	A	G	12: 105,771,196 (GRCm39)	Q87R	probably benign	Het
Pla2g4a	T	A	1: 149,727,086 (GRCm39)	R557*	probably null	Het
Rgs13	G	T	1: 144,016,576 (GRCm39)	H56N	probably damaging	Het
Sbf1	T	C	15: 89,189,111 (GRCm39)	S537G	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Spata31h1	A	T	10: 82,125,138 (GRCm39)	L2624Q	possibly damaging	Het
Stam2	T	C	2: 52,610,954 (GRCm39)	T23A	probably benign	Het
Tbl1xr1	C	A	3: 22,258,141 (GRCm39)	H467Q	probably damaging	Het
Tmem131l	A	G	3: 83,820,587 (GRCm39)	S1222P	possibly damaging	Het
Tmem43	G	T	6: 91,455,759 (GRCm39)	Q123H	probably damaging	Het
Tmem43	T	A	6: 91,463,862 (GRCm39)	I379N	possibly damaging	Het
Trim43c	A	T	9: 88,727,003 (GRCm39)	I277F	possibly damaging	Het
Ttn	A	G	2: 76,703,211 (GRCm39)		probably benign	Het
Vmn1r75	T	A	7: 11,615,003 (GRCm39)	V245D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps53	A	T	11: 75,967,881 (GRCm39)	M414K	probably benign	Het
Wrn	T	G	8: 33,809,248 (GRCm39)	L249F	probably benign	Het
Zc3h13	TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT	TGATGTCCGGGATGTCCGGGATGTCCGGGATGT	14: 75,560,998 (GRCm39)		probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp619	G	A	7: 39,183,586 (GRCm39)	G60R	probably benign	Het
Zfp623	T	A	15: 75,820,308 (GRCm39)	H421Q	probably damaging	Het
Zfp827	A	G	8: 79,916,606 (GRCm39)		probably benign	Het

Other mutations in P2ry6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02095:P2ry6	APN	7	100,588,071 (GRCm39)	missense	probably damaging	1.00
R0195:P2ry6	UTSW	7	100,587,904 (GRCm39)	missense	probably damaging	1.00
R1669:P2ry6	UTSW	7	100,587,630 (GRCm39)	missense	probably damaging	0.99
R1688:P2ry6	UTSW	7	100,587,591 (GRCm39)	missense	probably damaging	1.00
R4607:P2ry6	UTSW	7	100,587,511 (GRCm39)	missense	probably damaging	1.00
R4608:P2ry6	UTSW	7	100,587,511 (GRCm39)	missense	probably damaging	1.00
R6027:P2ry6	UTSW	7	100,587,715 (GRCm39)	missense	probably benign
R6320:P2ry6	UTSW	7	100,587,603 (GRCm39)	missense	probably damaging	1.00
R7582:P2ry6	UTSW	7	100,587,784 (GRCm39)	missense	probably damaging	1.00
R9294:P2ry6	UTSW	7	100,588,133 (GRCm39)	nonsense	probably null
X0066:P2ry6	UTSW	7	100,588,188 (GRCm39)	missense	probably benign	0.00
Z1177:P2ry6	UTSW	7	100,587,490 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACACATTGCAGCCAGTG -3'
(R):5'- GCCCTTCATAGCCTTACTGG -3'

Sequencing Primer
(F):5'- GCTGTGAGCCTCTGTAAGAG -3'
(R):5'- GCTTGTTATTGTCGCATGGCCC -3'

Posted On

2018-06-06