Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01527:Pkd2'

89622

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystin 2, transient receptor potential cation channel

Synonyms

TRPP2, polycystin-2, C030034P18Rik, PC2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01527

Quality Score

Status

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 104646750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

AlphaFold

O35245

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: ENSMUST00000133540

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	T	17: 35,878,730 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,240,788 (GRCm39)	W884R	possibly damaging	Het
Ahi1	T	C	10: 20,835,984 (GRCm39)		probably benign	Het
Ankfn1	G	T	11: 89,282,465 (GRCm39)	P394Q	probably benign	Het
Cacnb2	T	C	2: 14,989,081 (GRCm39)	I393T	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Col22a1	T	C	15: 71,778,880 (GRCm39)	E269G	probably damaging	Het
Cyp24a1	A	G	2: 170,338,486 (GRCm39)	L70P	probably damaging	Het
Cyp8b1	T	C	9: 121,744,061 (GRCm39)	K424E	probably damaging	Het
Dicer1	G	A	12: 104,657,869 (GRCm39)	Q1902*	probably null	Het
Dst	T	A	1: 34,286,734 (GRCm39)	L544Q	probably damaging	Het
Esrp2	T	C	8: 106,858,865 (GRCm39)	T591A	probably benign	Het
Gap43	C	T	16: 42,112,516 (GRCm39)	E82K	probably benign	Het
Ift70a1	T	C	2: 75,810,860 (GRCm39)	I408V	probably benign	Het
Kif17	G	A	4: 137,996,397 (GRCm39)	V125I	probably benign	Het
Lancl2	T	C	6: 57,709,307 (GRCm39)	S370P	probably damaging	Het
Macf1	T	C	4: 123,386,953 (GRCm39)	I203V	possibly damaging	Het
Mphosph9	A	G	5: 124,421,687 (GRCm39)		probably benign	Het
Ncapg	A	G	5: 45,829,726 (GRCm39)	I143V	possibly damaging	Het
Nr3c1	A	G	18: 39,619,690 (GRCm39)	V199A	probably benign	Het
Obscn	T	A	11: 58,955,243 (GRCm39)	N3890I	possibly damaging	Het
Or2g7	A	G	17: 38,378,986 (GRCm39)	N308S	probably benign	Het
Or2h2c	A	T	17: 37,422,701 (GRCm39)	Y58N	probably damaging	Het
Or52n5	T	A	7: 104,588,198 (GRCm39)	V155E	possibly damaging	Het
Or8g32	A	G	9: 39,305,114 (GRCm39)	H6R	probably benign	Het
Palmd	C	A	3: 116,720,837 (GRCm39)	E166*	probably null	Het
Pdzd2	T	C	15: 12,445,750 (GRCm39)	E327G	probably damaging	Het
Pex13	T	C	11: 23,606,111 (GRCm39)	T40A	probably benign	Het
Plb1	A	G	5: 32,474,467 (GRCm39)	T643A	probably damaging	Het
Prlr	T	A	15: 10,329,257 (GRCm39)	D577E	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Slc44a3	A	G	3: 121,320,777 (GRCm39)	C75R	probably damaging	Het
Susd6	A	T	12: 80,921,093 (GRCm39)	N230I	possibly damaging	Het
Tbx10	A	G	19: 4,048,227 (GRCm39)	R251G	probably damaging	Het
Uap1l1	A	G	2: 25,253,816 (GRCm39)		probably null	Het
Ugt2b5	A	G	5: 87,284,068 (GRCm39)	V308A	possibly damaging	Het
Usp28	C	A	9: 48,937,173 (GRCm39)	H147Q	probably benign	Het
Vmn1r203	T	C	13: 22,708,447 (GRCm39)	I76T	possibly damaging	Het
Vmn2r104	A	G	17: 20,263,158 (GRCm39)	I101T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,006 (GRCm39)	L768H	probably damaging	Het

Other mutations in Pkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pkd2	APN	5	104,631,001 (GRCm39)	missense	probably damaging	1.00
IGL01805:Pkd2	APN	5	104,630,959 (GRCm39)	missense	probably benign	0.41
IGL02146:Pkd2	APN	5	104,637,157 (GRCm39)	missense	probably damaging	1.00
IGL02326:Pkd2	APN	5	104,624,941 (GRCm39)	missense	probably benign	0.38
IGL02481:Pkd2	APN	5	104,634,636 (GRCm39)	missense	probably damaging	1.00
IGL02952:Pkd2	APN	5	104,628,026 (GRCm39)	missense	possibly damaging	0.48
IGL03026:Pkd2	APN	5	104,642,753 (GRCm39)	splice site	probably benign
IGL03409:Pkd2	APN	5	104,637,215 (GRCm39)	nonsense	probably null
Nephro	UTSW	5	104,634,672 (GRCm39)	missense	probably damaging	1.00
reggae	UTSW	5	104,625,045 (GRCm39)	splice site	probably null
samba	UTSW	5	104,624,989 (GRCm39)	missense	probably benign	0.01
IGL02988:Pkd2	UTSW	5	104,651,471 (GRCm39)	nonsense	probably null
PIT1430001:Pkd2	UTSW	5	104,607,654 (GRCm39)	missense	probably damaging	0.99
R0020:Pkd2	UTSW	5	104,651,382 (GRCm39)	missense	probably damaging	1.00
R0020:Pkd2	UTSW	5	104,651,382 (GRCm39)	missense	probably damaging	1.00
R0045:Pkd2	UTSW	5	104,603,671 (GRCm39)	unclassified	probably benign
R0070:Pkd2	UTSW	5	104,614,856 (GRCm39)	missense	probably damaging	0.99
R0070:Pkd2	UTSW	5	104,614,856 (GRCm39)	missense	probably damaging	0.99
R0315:Pkd2	UTSW	5	104,607,716 (GRCm39)	missense	possibly damaging	0.94
R0316:Pkd2	UTSW	5	104,625,032 (GRCm39)	missense	probably damaging	1.00
R0570:Pkd2	UTSW	5	104,603,471 (GRCm39)	unclassified	probably benign
R1277:Pkd2	UTSW	5	104,650,225 (GRCm39)	missense	probably damaging	0.97
R1883:Pkd2	UTSW	5	104,631,094 (GRCm39)	missense	probably damaging	1.00
R1907:Pkd2	UTSW	5	104,634,672 (GRCm39)	missense	probably damaging	1.00
R1937:Pkd2	UTSW	5	104,626,790 (GRCm39)	missense	probably damaging	1.00
R2023:Pkd2	UTSW	5	104,614,744 (GRCm39)	splice site	probably null
R2080:Pkd2	UTSW	5	104,624,989 (GRCm39)	missense	probably benign	0.01
R2081:Pkd2	UTSW	5	104,608,077 (GRCm39)	missense	probably benign	0.00
R2098:Pkd2	UTSW	5	104,626,768 (GRCm39)	missense	probably damaging	1.00
R2117:Pkd2	UTSW	5	104,631,042 (GRCm39)	missense	probably damaging	1.00
R2146:Pkd2	UTSW	5	104,603,456 (GRCm39)	unclassified	probably benign
R2163:Pkd2	UTSW	5	104,603,543 (GRCm39)	unclassified	probably benign
R3401:Pkd2	UTSW	5	104,628,193 (GRCm39)	missense	possibly damaging	0.68
R3732:Pkd2	UTSW	5	104,637,285 (GRCm39)	splice site	probably null
R3733:Pkd2	UTSW	5	104,637,285 (GRCm39)	splice site	probably null
R4409:Pkd2	UTSW	5	104,614,750 (GRCm39)	splice site	silent
R4582:Pkd2	UTSW	5	104,650,210 (GRCm39)	nonsense	probably null
R5189:Pkd2	UTSW	5	104,607,785 (GRCm39)	missense	probably benign	0.22
R5191:Pkd2	UTSW	5	104,634,547 (GRCm39)	missense	probably benign	0.05
R5195:Pkd2	UTSW	5	104,634,547 (GRCm39)	missense	probably benign	0.05
R5198:Pkd2	UTSW	5	104,630,958 (GRCm39)	missense	probably benign	0.06
R5326:Pkd2	UTSW	5	104,634,515 (GRCm39)	splice site	silent
R5406:Pkd2	UTSW	5	104,628,198 (GRCm39)	missense	probably damaging	1.00
R5542:Pkd2	UTSW	5	104,634,515 (GRCm39)	splice site	silent
R5543:Pkd2	UTSW	5	104,637,199 (GRCm39)	missense	probably damaging	1.00
R5633:Pkd2	UTSW	5	104,646,372 (GRCm39)	missense	probably damaging	0.98
R5887:Pkd2	UTSW	5	104,646,405 (GRCm39)	missense	probably damaging	1.00
R5906:Pkd2	UTSW	5	104,625,045 (GRCm39)	splice site	probably null
R5924:Pkd2	UTSW	5	104,646,424 (GRCm39)	missense	probably damaging	0.99
R6361:Pkd2	UTSW	5	104,634,546 (GRCm39)	nonsense	probably null
R6455:Pkd2	UTSW	5	104,607,790 (GRCm39)	missense	probably benign	0.00
R6495:Pkd2	UTSW	5	104,637,159 (GRCm39)	missense	probably damaging	1.00
R6735:Pkd2	UTSW	5	104,628,195 (GRCm39)	missense	probably damaging	1.00
R6837:Pkd2	UTSW	5	104,624,909 (GRCm39)	missense	probably damaging	1.00
R7192:Pkd2	UTSW	5	104,634,523 (GRCm39)	missense	probably benign	0.00
R7477:Pkd2	UTSW	5	104,631,108 (GRCm39)	missense	probably benign	0.19
R7560:Pkd2	UTSW	5	104,628,219 (GRCm39)	missense	probably damaging	1.00
R7867:Pkd2	UTSW	5	104,630,986 (GRCm39)	missense	probably damaging	1.00
R7894:Pkd2	UTSW	5	104,628,103 (GRCm39)	missense	probably damaging	1.00
R8251:Pkd2	UTSW	5	104,646,353 (GRCm39)	missense	probably benign	0.01
R8360:Pkd2	UTSW	5	104,607,653 (GRCm39)	nonsense	probably null
R8368:Pkd2	UTSW	5	104,607,653 (GRCm39)	nonsense	probably null
R8526:Pkd2	UTSW	5	104,637,102 (GRCm39)	missense	probably damaging	1.00
R8751:Pkd2	UTSW	5	104,637,151 (GRCm39)	missense	probably damaging	1.00
R8956:Pkd2	UTSW	5	104,631,090 (GRCm39)	missense	probably damaging	1.00
R9101:Pkd2	UTSW	5	104,628,230 (GRCm39)	missense	probably damaging	1.00
R9271:Pkd2	UTSW	5	104,626,959 (GRCm39)	splice site	probably null
R9452:Pkd2	UTSW	5	104,614,841 (GRCm39)	missense	probably damaging	1.00
R9459:Pkd2	UTSW	5	104,614,800 (GRCm39)	missense	probably damaging	1.00
R9541:Pkd2	UTSW	5	104,607,927 (GRCm39)	missense	probably damaging	0.98
R9671:Pkd2	UTSW	5	104,637,256 (GRCm39)	missense	probably damaging	1.00
R9682:Pkd2	UTSW	5	104,626,790 (GRCm39)	missense	probably damaging	1.00
R9737:Pkd2	UTSW	5	104,651,349 (GRCm39)	missense	possibly damaging	0.92
Z1088:Pkd2	UTSW	5	104,646,727 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkd2	UTSW	5	104,607,915 (GRCm39)	missense	probably benign	0.43

Posted On

2013-12-03