Mutagenetix > Incidental Mutation

Incidental Mutation 'R4582:Pkd2'

343724

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystin 2, transient receptor potential cation channel

Synonyms

TRPP2, polycystin-2, C030034P18Rik, PC2

MMRRC Submission

041803-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 104650210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 857 (K857*)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

AlphaFold

O35245

Predicted Effect

probably null
Transcript: ENSMUST00000086831
AA Change: K857*

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: K857*

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	A	T	15: 41,732,681 (GRCm39)	D128E	probably benign	Het
Akap11	A	T	14: 78,749,369 (GRCm39)	V1006E	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Brd9	T	C	13: 74,095,852 (GRCm39)	F366L	probably benign	Het
Brinp2	A	G	1: 158,095,508 (GRCm39)	F118L	probably damaging	Het
Ccdc138	T	C	10: 58,343,465 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,722,922 (GRCm39)	F189L	probably damaging	Het
Cfap45	A	G	1: 172,357,479 (GRCm39)	T36A	probably benign	Het
Clec4a1	G	T	6: 122,909,150 (GRCm39)	V173L	possibly damaging	Het
Col6a5	G	A	9: 105,739,963 (GRCm39)	T2552I	probably benign	Het
Dcaf15	A	G	8: 84,824,598 (GRCm39)	V533A	probably damaging	Het
Dhrs9	A	T	2: 69,227,997 (GRCm39)	I204F	probably damaging	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Eef1akmt1	T	C	14: 57,787,905 (GRCm39)	D151G	probably damaging	Het
Eif4g3	G	A	4: 137,898,556 (GRCm39)	R1109H	probably damaging	Het
Gtpbp10	T	C	5: 5,592,395 (GRCm39)	T191A	possibly damaging	Het
Hectd4	A	G	5: 121,424,482 (GRCm39)	N714S	possibly damaging	Het
Lima1	T	C	15: 99,678,873 (GRCm39)	T523A	possibly damaging	Het
Lipe	A	G	7: 25,097,127 (GRCm39)	L272P	probably benign	Het
Llgl2	A	G	11: 115,741,532 (GRCm39)	E554G	possibly damaging	Het
Lrrc66	T	C	5: 73,765,580 (GRCm39)	S488G	possibly damaging	Het
Man2a1	C	T	17: 65,059,494 (GRCm39)	A1127V	probably benign	Het
Naglu	A	T	11: 100,962,755 (GRCm39)	I187F	probably damaging	Het
Nt5c1b	T	A	12: 10,440,054 (GRCm39)	M548K	probably damaging	Het
Or10ak14	A	T	4: 118,611,090 (GRCm39)	I217N	probably damaging	Het
Or6c38	A	T	10: 128,929,027 (GRCm39)	V272E	possibly damaging	Het
Pcdha3	T	C	18: 37,080,485 (GRCm39)	V409A	probably benign	Het
Pde6b	A	T	5: 108,573,097 (GRCm39)		probably null	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sacs	G	A	14: 61,429,147 (GRCm39)	G402D	probably damaging	Het
Slc22a5	C	T	11: 53,782,035 (GRCm39)	E111K	probably damaging	Het
Sptbn1	G	A	11: 30,169,597 (GRCm39)	R44C	probably damaging	Het
Taf1	T	C	X: 100,637,601 (GRCm39)	V1696A	possibly damaging	Het
Tm9sf3	C	A	19: 41,244,605 (GRCm39)	G91C	probably damaging	Het
Tmie	T	G	9: 110,702,865 (GRCm39)	E32A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsga13	A	T	6: 30,879,298 (GRCm39)	N138K	probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a10	A	T	1: 87,983,463 (GRCm39)	D87V	possibly damaging	Het
Vdac3-ps1	A	T	13: 18,206,177 (GRCm39)		noncoding transcript	Het
Vmn1r29	A	C	6: 58,285,017 (GRCm39)	I246L	probably damaging	Het
Zbtb16	A	G	9: 48,743,382 (GRCm39)	V310A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGGAGGTCATTGCTCCGG -3'
(R):5'- ACTAAAGAATGCTTCTGCTCACAG -3'

Sequencing Primer
(F):5'- TCAGCCTGGTCTACAAAGTG -3'
(R):5'- TGTAGCTCTATGTAGCCTTAAATAGC -3'

Posted On

2015-09-24