Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:P2ry13'

461098

Institutional Source

Beutler Lab

Gene Symbol

P2ry13

Ensembl Gene

ENSMUSG00000036362

Gene Name

purinergic receptor P2Y, G-protein coupled 13

Synonyms

2010001L06Rik, Gpr86, P2Y13, SP174

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59115313-59118303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59116786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 331 (T331A)

Ref Sequence

ENSEMBL: ENSMUSP00000044730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000040622] [ENSMUST00000164225] [ENSMUST00000199659]

AlphaFold

Q9D8I2

Predicted Effect

probably benign
Transcript: ENSMUST00000040325

SMART Domains

Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	730	2.6e-207	PFAM
low complexity region	744	758	N/A	INTRINSIC
low complexity region	853	872	N/A	INTRINSIC
low complexity region	1455	1466	N/A	INTRINSIC
low complexity region	1728	1742	N/A	INTRINSIC
low complexity region	1769	1783	N/A	INTRINSIC
Pfam:Med12-PQL	1803	2029	2.3e-14	PFAM
low complexity region	2055	2076	N/A	INTRINSIC
low complexity region	2083	2101	N/A	INTRINSIC
low complexity region	2116	2136	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040622
AA Change: T331A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000044730
Gene: ENSMUSG00000036362
AA Change: T331A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	44	298	1.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164225

SMART Domains

Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	283	765	5e-187	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1763	1777	N/A	INTRINSIC
low complexity region	1804	1818	N/A	INTRINSIC
Pfam:Med12-PQL	1840	2063	9.7e-66	PFAM
low complexity region	2090	2111	N/A	INTRINSIC
low complexity region	2118	2136	N/A	INTRINSIC
low complexity region	2151	2171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199659

SMART Domains

Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	765	5.5e-209	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1761	1775	N/A	INTRINSIC
low complexity region	1802	1816	N/A	INTRINSIC
Pfam:Med12-PQL	1836	2062	1.7e-15	PFAM
low complexity region	2088	2130	N/A	INTRINSIC
low complexity region	2144	2164	N/A	INTRINSIC

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

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 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 is activated by ADP. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired bile flow, biliary cholesterol secretion, and bile acid secretion, decreased liver cholesterol level, and reduced macrophage-to-feces reverse cholesterol transport. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,642,154 (GRCm39)	M366R	possibly damaging	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Cacnb4	G	A	2: 52,324,796 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Cyp2u1	G	A	3: 131,096,860 (GRCm39)		probably benign	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,582,732 (GRCm39)	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Irf4	T	A	13: 30,941,741 (GRCm39)	S365T	probably benign	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	possibly damaging	Het

Other mutations in P2ry13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01815:P2ry13	APN	3	59,117,121 (GRCm39)	missense	probably benign
IGL02370:P2ry13	APN	3	59,116,886 (GRCm39)	missense	probably damaging	1.00
IGL02850:P2ry13	APN	3	59,117,029 (GRCm39)	missense	probably damaging	0.99
IGL03160:P2ry13	APN	3	59,117,496 (GRCm39)	missense	probably damaging	1.00
IGL03247:P2ry13	APN	3	59,117,013 (GRCm39)	missense	possibly damaging	0.52
R0346:P2ry13	UTSW	3	59,116,987 (GRCm39)	missense	possibly damaging	0.90
R1338:P2ry13	UTSW	3	59,117,710 (GRCm39)	missense	probably benign	0.03
R1491:P2ry13	UTSW	3	59,116,939 (GRCm39)	missense	probably damaging	1.00
R1528:P2ry13	UTSW	3	59,117,710 (GRCm39)	missense	probably benign	0.03
R2265:P2ry13	UTSW	3	59,117,449 (GRCm39)	missense	probably damaging	1.00
R2266:P2ry13	UTSW	3	59,117,449 (GRCm39)	missense	probably damaging	1.00
R2267:P2ry13	UTSW	3	59,117,449 (GRCm39)	missense	probably damaging	1.00
R2925:P2ry13	UTSW	3	59,116,801 (GRCm39)	missense	probably benign	0.09
R4747:P2ry13	UTSW	3	59,117,308 (GRCm39)	missense	probably benign	0.02
R4942:P2ry13	UTSW	3	59,116,983 (GRCm39)	missense	probably benign	0.35
R5655:P2ry13	UTSW	3	59,117,260 (GRCm39)	missense	possibly damaging	0.84
R5808:P2ry13	UTSW	3	59,117,653 (GRCm39)	missense	probably benign	0.00
R6181:P2ry13	UTSW	3	59,117,328 (GRCm39)	missense	probably benign	0.08
R7682:P2ry13	UTSW	3	59,117,545 (GRCm39)	missense	probably benign	0.02
R7686:P2ry13	UTSW	3	59,117,439 (GRCm39)	missense	probably damaging	0.97
R8062:P2ry13	UTSW	3	59,117,703 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CGTCTATGTGGTTAAAATGGGC -3'
(R):5'- AACCACCAATAAGACTGACTGTAGG -3'

Sequencing Primer
(F):5'- GGCATAATGTTTTTCCATACACTAGG -3'
(R):5'- GTTAGAAAACCAGCTGTTTATTGC -3'

Posted On

2017-02-28