Mutagenetix > Incidental Mutations

Incidental Mutation 'R5633:Pkd2'

439972

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystic kidney disease 2

Synonyms

C030034P18Rik, TRPP2, polycystin-2, PC2

MMRRC Submission

043284-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104459450-104505819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104498506 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 726 (S726R)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086831
AA Change: S726R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: S726R

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

Meta Mutation Damage Score

0.2858

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,618,028	C125S	probably benign	Het
Abcb8	T	C	5: 24,403,109	L382P	probably damaging	Het
Acot3	A	G	12: 84,058,950		probably null	Het
Acsl6	A	T	11: 54,337,189	Q345L	probably benign	Het
Adcy8	A	G	15: 64,699,285	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,735,065	D182A	probably damaging	Het
B3galt5	A	T	16: 96,315,509	H114L	probably benign	Het
BC053393	C	T	11: 46,574,606	S9L	unknown	Het
Bcas2	T	A	3: 103,178,424	Y207*	probably null	Het
Best1	A	G	19: 9,992,103	L197P	probably benign	Het
Chil6	C	A	3: 106,388,752	C389F	probably damaging	Het
Chrna4	T	C	2: 181,029,460	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,363,629		probably benign	Het
Dhcr7	T	C	7: 143,847,423	L441P	probably damaging	Het
Dmtn	T	C	14: 70,604,979	M365V	probably benign	Het
Dmxl1	T	A	18: 49,877,697	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,507,419	D150G	probably benign	Het
Eef2k	C	A	7: 120,873,290		probably benign	Het
Elp2	T	A	18: 24,615,210	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,095		probably null	Het
Gm11559	C	A	11: 99,864,586	C20*	probably null	Het
Gnb2	T	C	5: 137,529,192	I213V	probably benign	Het
Gnb5	C	T	9: 75,344,514	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257	I303N	possibly damaging	Het
Idh1	A	G	1: 65,165,136	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,539,097	Q273*	probably null	Het
Itpkb	A	T	1: 180,327,225		probably benign	Het
Kntc1	C	T	5: 123,819,057	T2143I	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,748,862	D464E	possibly damaging	Het
Med13	A	G	11: 86,278,931		probably benign	Het
Mn1	T	C	5: 111,420,326	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,868,184	L1026Q	possibly damaging	Het
Olfr773	A	T	10: 129,186,849	F191I	probably benign	Het
P4htm	A	C	9: 108,579,723	D428E	probably damaging	Het
Parp8	C	T	13: 116,876,580	R602H	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,856,488	I359T	probably benign	Het
Rassf6	T	C	5: 90,604,118	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,560,088	I413T	probably damaging	Het
Rpn2	T	A	2: 157,283,596	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,086,990	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,846,587	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,369,261	P163Q	probably damaging	Het
Smc4	T	A	3: 69,008,110	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455	I439K	probably benign	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Trpm2	T	C	10: 77,938,353	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,349	M358T	probably benign	Het
Vmn1r91	A	T	7: 20,101,945	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,561,044	D648G	probably benign	Het
Zpbp2	T	C	11: 98,554,758	I150T	probably 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
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
Z1088:Pkd2	UTSW	5	104498861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGCCATCATCTGCTAAGCATC -3'
(R):5'- TTATTCTGCACGTGGTCCAG -3'

Sequencing Primer
(F):5'- GCATCAAACTTTCAATAGTTCCACAG -3'
(R):5'- TGGTCCAGCCCTAACACTG -3'

Posted On

2016-11-08