Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02326:Pkd2'

288497

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 #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104624941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 246 (Y246H)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

AlphaFold

O35245

Predicted Effect

probably benign
Transcript: ENSMUST00000086831
AA Change: Y246H

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: Y246H

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,465,051 (GRCm39)	V29A	unknown	Het
Abcc8	C	A	7: 45,772,281 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,705,514 (GRCm39)	I614N	probably damaging	Het
Ash1l	G	A	3: 88,873,364 (GRCm39)	R49H	probably benign	Het
Atp8b1	T	C	18: 64,671,654 (GRCm39)	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317 (GRCm39)	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,062,770 (GRCm39)	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,902,764 (GRCm39)	L485P	probably damaging	Het
Cobl	A	T	11: 12,336,712 (GRCm39)	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,282,193 (GRCm39)	V818A	unknown	Het
Csmd3	G	A	15: 47,619,359 (GRCm39)		probably benign	Het
Dpp6	A	G	5: 27,869,755 (GRCm39)	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,692,395 (GRCm39)	R96C	probably damaging	Het
Fam53a	T	C	5: 33,757,938 (GRCm39)	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,858,190 (GRCm39)	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,340,964 (GRCm39)	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,231,052 (GRCm39)	T430I	unknown	Het
Ighv1-53	T	A	12: 115,122,235 (GRCm39)	T47S	probably benign	Het
Ilk	C	A	7: 105,390,840 (GRCm39)	P261Q	probably damaging	Het
Ints10	T	G	8: 69,257,485 (GRCm39)	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,472,816 (GRCm39)	S782R	probably benign	Het
Map3k4	A	G	17: 12,467,897 (GRCm39)	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113 (GRCm39)	P374S	probably benign	Het
Or52e18	T	A	7: 104,609,853 (GRCm39)	I29F	probably benign	Het
Or5b108	C	A	19: 13,168,779 (GRCm39)	Y249*	probably null	Het
Or5j1	G	A	2: 86,879,355 (GRCm39)	S75L	possibly damaging	Het
Or5w19	T	A	2: 87,699,019 (GRCm39)	I228N	probably damaging	Het
Plekha5	G	T	6: 140,529,576 (GRCm39)	G340*	probably null	Het
Plxna4	T	A	6: 32,129,840 (GRCm39)	M1828L	probably damaging	Het
Prex1	A	G	2: 166,463,105 (GRCm39)	I252T	probably benign	Het
Pura	A	G	18: 36,420,831 (GRCm39)	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713 (GRCm39)	F782I	probably damaging	Het
Rbp4	T	C	19: 38,112,563 (GRCm39)	D90G	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scn7a	C	A	2: 66,530,392 (GRCm39)	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,639,163 (GRCm39)		probably null	Het
Slc43a1	T	G	2: 84,680,115 (GRCm39)	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,078,099 (GRCm39)	T300A	probably benign	Het
Srgap2	T	A	1: 131,284,645 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,294,182 (GRCm39)	V531M	probably damaging	Het
Twsg1	T	C	17: 66,233,431 (GRCm39)	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,388,861 (GRCm39)	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,571,592 (GRCm39)	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,235,255 (GRCm39)	I41T	probably benign	Het
Vwa5a	A	T	9: 38,649,252 (GRCm39)	T667S	probably benign	Het
Xrn2	A	G	2: 146,889,633 (GRCm39)	E672G	probably benign	Het
Zfp235	T	A	7: 23,834,727 (GRCm39)	M1K	probably null	Het
Zmym1	T	C	4: 126,941,553 (GRCm39)	E847G	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
IGL01527:Pkd2	APN	5	104,646,750 (GRCm39)	splice site	probably benign
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
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

2015-04-16