Mutagenetix > Incidental Mutations

Incidental Mutation 'R6361:Pkd2'

513112

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystic kidney disease 2

Synonyms

C030034P18Rik, TRPP2, polycystin-2, PC2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6361 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104459450-104505819 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 104486680 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 526 (R526*)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000086831
AA Change: R526*

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: R526*

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,972,695	D676V	probably benign	Het
6430531B16Rik	T	A	7: 139,976,672	D134V	possibly damaging	Het
Asap1	C	T	15: 64,349,823		probably null	Het
Cabin1	G	A	10: 75,726,865	A29V	possibly damaging	Het
Cadps	G	A	14: 12,491,778	Q791*	probably null	Het
Cdc14b	T	C	13: 64,216,209		probably null	Het
Cep89	C	T	7: 35,398,047	P33S	probably damaging	Het
Clec18a	A	G	8: 111,081,029		probably benign	Het
Cln5	T	A	14: 103,076,201	D296E	probably benign	Het
Col6a4	A	T	9: 106,066,703	S1191T	probably benign	Het
Crispld1	A	G	1: 17,762,231	I480M	probably damaging	Het
Dhrs7	A	C	12: 72,664,659	L32V	probably damaging	Het
Dscam	T	C	16: 96,622,811	T1645A	probably benign	Het
Eif2b3	A	G	4: 117,028,425	T55A	possibly damaging	Het
Ercc6	T	C	14: 32,517,110	Y52H	probably benign	Het
Fam170b	C	A	14: 32,836,071	Q288K	unknown	Het
Flt4	A	G	11: 49,630,578	T442A	probably benign	Het
Gm19402	A	T	10: 77,690,061		probably benign	Het
Gm4841	A	G	18: 60,270,760	I87T	probably damaging	Het
Hspb7	A	G	4: 141,422,549	E82G	possibly damaging	Het
Itgb3	A	G	11: 104,665,582	K750E	possibly damaging	Het
Itsn2	A	G	12: 4,629,655	M155V	probably benign	Het
March8	A	T	6: 116,402,101	D332V	probably null	Het
Mst1r	A	G	9: 107,915,853	M1042V	probably benign	Het
Muc4	T	C	16: 32,767,351	F2756L	probably benign	Het
Myl6b	T	A	10: 128,497,209	K55*	probably null	Het
Olfr1230	A	T	2: 89,296,646	I208N	probably damaging	Het
Olfr1301	G	T	2: 111,754,595	L115F	probably damaging	Het
Olfr150	A	C	9: 39,737,672	N286H	probably damaging	Het
Olfr348	A	G	2: 36,786,780	N85S	probably damaging	Het
Olfr830	T	C	9: 18,875,731	Y132H	probably damaging	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Polr2a	C	A	11: 69,743,337	A756S	probably damaging	Het
Prkd2	T	C	7: 16,847,654	S145P	probably damaging	Het
Rhbdf1	T	C	11: 32,212,915	N451D	possibly damaging	Het
Rundc3a	G	A	11: 102,400,795	R358Q	probably damaging	Het
Tbc1d4	T	C	14: 101,507,174	K339E	probably damaging	Het
Usp37	A	G	1: 74,453,893	I723T	probably benign	Het
Vwa2	A	T	19: 56,901,526		probably null	Het
Zdbf2	A	C	1: 63,303,321	R286S	possibly damaging	Het
Zfp422	G	A	6: 116,626,820	H73Y	probably damaging	Het
Zfp868	T	C	8: 69,611,913	H257R	probably damaging	Het
Zzef1	A	G	11: 72,884,349	S1723G	possibly damaging	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
R2146:Pkd2	UTSW	5	104455590	unclassified	probably benign
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
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
R7950:Pkd2	UTSW	5	104483120	missense	probably damaging	1.00
R7977:Pkd2	UTSW	5	104480237	missense	probably damaging	1.00
Z1088:Pkd2	UTSW	5	104498861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCACATTTAGAGCTGATGG -3'
(R):5'- ATCTGGCCATTTCAATCAGCC -3'

Sequencing Primer
(F):5'- GCTGATGTTGGCTCAGTAATATG -3'
(R):5'- TGGCCATTTCAATCAGCCTAAAAAGG -3'

Posted On

2018-04-27