Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Pkd2'

233819

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystic kidney disease 2

Synonyms

C030034P18Rik, TRPP2, polycystin-2, PC2

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104459450-104505819 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 104455590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086831]

AlphaFold

O35245

Predicted Effect

unknown
Transcript: ENSMUST00000069263
AA Change: C91G

Predicted Effect

probably benign
Transcript: ENSMUST00000086831

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462

Domain	Start	End	E-Value	Type
low complexity region	25	43	N/A	INTRINSIC
low complexity region	58	79	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
low complexity region	119	138	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
Pfam:PKD_channel	265	685	1.3e-171	PFAM
Pfam:Ion_trans	454	690	2.6e-25	PFAM
coiled coil region	765	794	N/A	INTRINSIC
PDB:3HRN\|A	834	893	8e-31	PDB
low complexity region	900	915	N/A	INTRINSIC
low complexity region	949	963	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130931

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844		probably null	Het
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405	C13*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc185	G	T	1: 182,747,520	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225		probably benign	Het
Cd163	A	G	6: 124,309,208	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chsy3	G	A	18: 59,176,472	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cstf1	T	C	2: 172,375,763	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	C	T	15: 73,523,496	T146M	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378		probably benign	Het
Ints9	G	A	14: 64,986,343	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613	W441R	probably damaging	Het
Itga10	T	C	3: 96,651,492	L382P	possibly damaging	Het
Itga10	G	T	3: 96,653,723	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,779,090	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718	L314P	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Reps1	T	A	10: 18,093,313	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707		probably benign	Het
Ttn	T	C	2: 76,897,188		probably benign	Het
Usp16	T	C	16: 87,473,187		probably null	Het
Usp36	A	G	11: 118,268,665	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Pkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pkd2	APN	5	104483135	missense	probably damaging	1.00
IGL01527:Pkd2	APN	5	104498884	splice site	probably benign
IGL01805:Pkd2	APN	5	104483093	missense	probably benign	0.41
IGL02146:Pkd2	APN	5	104489291	missense	probably damaging	1.00
IGL02326:Pkd2	APN	5	104477075	missense	probably benign	0.38
IGL02481:Pkd2	APN	5	104486770	missense	probably damaging	1.00
IGL02952:Pkd2	APN	5	104480160	missense	possibly damaging	0.48
IGL03026:Pkd2	APN	5	104494887	splice site	probably benign
IGL03409:Pkd2	APN	5	104489349	nonsense	probably null
Nephro	UTSW	5	104486806	missense	probably damaging	1.00
reggae	UTSW	5	104477179	splice site	probably null
samba	UTSW	5	104477123	missense	probably benign	0.01
IGL02988:Pkd2	UTSW	5	104503605	nonsense	probably null
PIT1430001:Pkd2	UTSW	5	104459788	missense	probably damaging	0.99
R0020:Pkd2	UTSW	5	104503516	missense	probably damaging	1.00
R0020:Pkd2	UTSW	5	104503516	missense	probably damaging	1.00
R0045:Pkd2	UTSW	5	104455805	unclassified	probably benign
R0070:Pkd2	UTSW	5	104466990	missense	probably damaging	0.99
R0070:Pkd2	UTSW	5	104466990	missense	probably damaging	0.99
R0315:Pkd2	UTSW	5	104459850	missense	possibly damaging	0.94
R0316:Pkd2	UTSW	5	104477166	missense	probably damaging	1.00
R0570:Pkd2	UTSW	5	104455605	unclassified	probably benign
R1277:Pkd2	UTSW	5	104502359	missense	probably damaging	0.97
R1883:Pkd2	UTSW	5	104483228	missense	probably damaging	1.00
R1907:Pkd2	UTSW	5	104486806	missense	probably damaging	1.00
R1937:Pkd2	UTSW	5	104478924	missense	probably damaging	1.00
R2023:Pkd2	UTSW	5	104466878	splice site	probably null
R2080:Pkd2	UTSW	5	104477123	missense	probably benign	0.01
R2081:Pkd2	UTSW	5	104460211	missense	probably benign	0.00
R2098:Pkd2	UTSW	5	104478902	missense	probably damaging	1.00
R2117:Pkd2	UTSW	5	104483176	missense	probably damaging	1.00
R2163:Pkd2	UTSW	5	104455677	unclassified	probably benign
R3401:Pkd2	UTSW	5	104480327	missense	possibly damaging	0.68
R3732:Pkd2	UTSW	5	104489419	splice site	probably null
R3733:Pkd2	UTSW	5	104489419	splice site	probably null
R4409:Pkd2	UTSW	5	104466884	splice site	silent
R4582:Pkd2	UTSW	5	104502344	nonsense	probably null
R5189:Pkd2	UTSW	5	104459919	missense	probably benign	0.22
R5191:Pkd2	UTSW	5	104486681	missense	probably benign	0.05
R5195:Pkd2	UTSW	5	104486681	missense	probably benign	0.05
R5198:Pkd2	UTSW	5	104483092	missense	probably benign	0.06
R5326:Pkd2	UTSW	5	104486649	splice site	silent
R5406:Pkd2	UTSW	5	104480332	missense	probably damaging	1.00
R5542:Pkd2	UTSW	5	104486649	splice site	silent
R5543:Pkd2	UTSW	5	104489333	missense	probably damaging	1.00
R5633:Pkd2	UTSW	5	104498506	missense	probably damaging	0.98
R5887:Pkd2	UTSW	5	104498539	missense	probably damaging	1.00
R5906:Pkd2	UTSW	5	104477179	splice site	probably null
R5924:Pkd2	UTSW	5	104498558	missense	probably damaging	0.99
R6361:Pkd2	UTSW	5	104486680	nonsense	probably null
R6455:Pkd2	UTSW	5	104459924	missense	probably benign	0.00
R6495:Pkd2	UTSW	5	104489293	missense	probably damaging	1.00
R6735:Pkd2	UTSW	5	104480329	missense	probably damaging	1.00
R6837:Pkd2	UTSW	5	104477043	missense	probably damaging	1.00
R7192:Pkd2	UTSW	5	104486657	missense	probably benign	0.00
R7477:Pkd2	UTSW	5	104483242	missense	probably benign	0.19
R7560:Pkd2	UTSW	5	104480353	missense	probably damaging	1.00
R7867:Pkd2	UTSW	5	104483120	missense	probably damaging	1.00
R7894:Pkd2	UTSW	5	104480237	missense	probably damaging	1.00
R8251:Pkd2	UTSW	5	104498487	missense	probably benign	0.01
R8360:Pkd2	UTSW	5	104459787	nonsense	probably null
R8368:Pkd2	UTSW	5	104459787	nonsense	probably null
R8526:Pkd2	UTSW	5	104489236	missense	probably damaging	1.00
R8751:Pkd2	UTSW	5	104489285	missense	probably damaging	1.00
R8956:Pkd2	UTSW	5	104483224	missense	probably damaging	1.00
R9101:Pkd2	UTSW	5	104480364	missense	probably damaging	1.00
R9271:Pkd2	UTSW	5	104479093	splice site	probably null
R9452:Pkd2	UTSW	5	104466975	missense	probably damaging	1.00
R9459:Pkd2	UTSW	5	104466934	missense	probably damaging	1.00
R9541:Pkd2	UTSW	5	104460061	missense	probably damaging	0.98
R9671:Pkd2	UTSW	5	104489390	missense	probably damaging	1.00
R9682:Pkd2	UTSW	5	104478924	missense	probably damaging	1.00
R9737:Pkd2	UTSW	5	104503483	missense	possibly damaging	0.92
Z1088:Pkd2	UTSW	5	104498861	missense	probably damaging	1.00
Z1176:Pkd2	UTSW	5	104460049	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- CCACTTCAACCTAGGGATTCCC -3'
(R):5'- TTTTCCAACTAGAAGACAACTGGG -3'

Sequencing Primer
(F):5'- GGGATTCCCTCTTTGCTGGAAAC -3'
(R):5'- CTGGGCACTGAAGAATATGTTCC -3'

Posted On

2014-10-01