Mutagenetix > Incidental Mutations

Incidental Mutation 'R2163:Pkd2'

235271

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystic kidney disease 2

Synonyms

C030034P18Rik, TRPP2, polycystin-2, PC2

MMRRC Submission

040166-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104459450-104505819 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 104455677 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000069263
AA Change: T62A

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: ENSMUST00000130931

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,576,826		probably benign	Het
2410089E03Rik	T	A	15: 8,203,251		probably null	Het
4930578I07Rik	C	A	14: 66,938,548	T64K	unknown	Het
Ablim2	T	C	5: 35,802,353		probably benign	Het
Acp4	T	C	7: 44,255,976	D107G	probably damaging	Het
Adamts2	T	A	11: 50,788,805	C871S	probably benign	Het
Adamts3	A	G	5: 89,708,718	V332A	probably damaging	Het
Alkal1	C	T	1: 6,389,512	T104M	probably benign	Het
Astn1	A	G	1: 158,502,150	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,392,003	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,259,195	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,362,319	T964I	probably damaging	Het
Carf	T	C	1: 60,147,486		probably benign	Het
Catsper2	T	C	2: 121,400,175	D295G	probably damaging	Het
Cdh1	A	G	8: 106,649,081	T84A	probably benign	Het
Chd8	T	A	14: 52,198,818	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,711,231	T284S	probably damaging	Het
Chtop	A	T	3: 90,502,211	M125K	probably benign	Het
Col14a1	T	A	15: 55,444,645		probably benign	Het
Cyp2b10	A	T	7: 25,925,385		probably benign	Het
Cyp2c70	G	A	19: 40,160,719	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,286,356	T77A	probably damaging	Het
Dnah6	A	T	6: 73,089,746		probably null	Het
Efhd1	A	T	1: 87,289,473	D104V	probably damaging	Het
Eif5b	A	T	1: 38,048,794	D957V	probably benign	Het
Eps15	T	A	4: 109,370,669	S549R	probably damaging	Het
Fbxo3	C	A	2: 104,054,985	H400N	probably benign	Het
Fcer1a	A	G	1: 173,222,697	V86A	probably damaging	Het
Fh1	A	G	1: 175,614,840	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,808,603	H466N	unknown	Het
Gadl1	T	A	9: 115,949,558	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,317,766		noncoding transcript	Het
Gm6614	G	A	6: 141,980,938	T554I	possibly damaging	Het
Hivep2	T	A	10: 14,128,226	Y189*	probably null	Het
Hoxd13	T	A	2: 74,669,069	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,078,538		probably benign	Het
Il1r1	A	G	1: 40,294,863	M198V	probably benign	Het
Katnal1	T	A	5: 148,888,936	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Mybpc1	T	C	10: 88,540,942		probably benign	Het
Mycbp2	A	G	14: 103,169,855		probably null	Het
Nell2	G	T	15: 95,429,978	N301K	probably damaging	Het
Nenf	T	A	1: 191,309,935	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,818,218	N293S	probably benign	Het
Nipbl	T	C	15: 8,336,919	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,453,397	F631L	probably benign	Het
Nrp1	T	A	8: 128,497,871	V705E	probably damaging	Het
Nsf	G	C	11: 103,863,333	A459G	possibly damaging	Het
Olfr1128	A	G	2: 87,544,894	S217P	probably damaging	Het
Olfr366	A	G	2: 37,220,077	E196G	probably damaging	Het
Pdia4	C	T	6: 47,798,407	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,541,801	Y192F	probably benign	Het
Ppara	A	G	15: 85,801,046	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,865,086	N169K	probably damaging	Het
Prom1	T	A	5: 44,014,163	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,680,348	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,957,779	K263N	probably damaging	Het
Scn11a	T	G	9: 119,755,025	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,675,956	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,143,282		probably null	Het
Slc4a4	A	G	5: 89,214,576	I840V	probably damaging	Het
Slco1c1	T	A	6: 141,559,752	V419D	probably benign	Het
Sltm	T	A	9: 70,591,682	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,847	K266E	probably benign	Het
Syt15	A	G	14: 34,226,116	E306G	probably benign	Het
Tap1	A	T	17: 34,189,473		probably null	Het
Tbc1d16	G	C	11: 119,155,078		probably benign	Het
Tex47	T	C	5: 7,305,022	Y68H	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,812,501	T13264A	probably damaging	Het
Ubxn2a	A	T	12: 4,885,757	F131Y	probably damaging	Het
Usp40	T	C	1: 87,995,858		probably benign	Het
Vmn1r170	T	C	7: 23,607,037	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,808,927	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,885,015	E673*	probably null	Het
Zfr	T	A	15: 12,162,223	L820I	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
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
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
R7867:Pkd2	UTSW	5	104483120	missense	probably damaging	1.00
R7894:Pkd2	UTSW	5	104480237	missense	probably damaging	1.00
R8251:Pkd2	UTSW	5	104498487	missense	probably benign	0.01
R8360:Pkd2	UTSW	5	104459787	nonsense	probably null
R8368:Pkd2	UTSW	5	104459787	nonsense	probably null
R8526:Pkd2	UTSW	5	104489236	missense	probably damaging	1.00
R8751:Pkd2	UTSW	5	104489285	missense	probably damaging	1.00
Z1088:Pkd2	UTSW	5	104498861	missense	probably damaging	1.00
Z1176:Pkd2	UTSW	5	104460049	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TATTCACGGGGACAATCTCTCC -3'
(R):5'- AATCTTTTGTCATAGAGCTGGACC -3'

Sequencing Primer
(F):5'- GGGGACAATCTCTCCAACAAG -3'
(R):5'- CATAGAGCTGGACCTTTCCTGG -3'

Posted On

2014-10-01