Incidental Mutation 'PIT1430001:Pkd2'
ID499851
Institutional Source Beutler Lab
Gene Symbol Pkd2
Ensembl Gene ENSMUSG00000034462
Gene Namepolycystic kidney disease 2
SynonymsC030034P18Rik, TRPP2, polycystin-2, PC2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #PIT1430001 (G1)
Quality Score100
Status Validated
Chromosome5
Chromosomal Location104459450-104505819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104459788 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 51 (E51V)
Ref Sequence ENSEMBL: ENSMUSP00000084041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086831]
Predicted Effect probably damaging
Transcript: ENSMUST00000086831
AA Change: E51V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: E51V

DomainStartEndE-ValueType
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 0.3009 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik T A 13: 58,385,013 K48* probably null Het
2700049A03Rik A T 12: 71,160,386 I524F possibly damaging Het
4930511M06Rik T C 18: 57,384,169 probably benign Het
9330159F19Rik T A 10: 29,224,715 N361K probably damaging Het
Akap9 A G 5: 4,029,849 D1867G probably damaging Het
Ankrd17 T C 5: 90,252,973 T1687A possibly damaging Het
Ap1m2 G A 9: 21,298,252 P376L probably damaging Het
Bicc1 A G 10: 70,957,681 S196P possibly damaging Het
Cacnb2 C T 2: 14,971,601 R228* probably null Het
Ccdc43 A G 11: 102,692,150 S83P probably damaging Het
Ccdc94 C T 17: 55,964,479 probably benign Het
Cdc42bpg T A 19: 6,322,552 probably null Het
Cdh16 C A 8: 104,617,639 M89I probably benign Het
Cecr2 A C 6: 120,758,479 H892P probably benign Het
Chd5 T A 4: 152,370,637 S859T probably damaging Het
Chrd G A 16: 20,738,998 probably null Het
Chrna2 T A 14: 66,149,737 L444Q probably benign Het
Ckap4 A G 10: 84,527,766 S478P probably damaging Het
Cldn4 A T 5: 134,946,660 M29K possibly damaging Het
Clpb T C 7: 101,786,719 V615A possibly damaging Het
Cyb5r4 G A 9: 87,038,738 G142E probably benign Het
Cyp1a1 A G 9: 57,700,911 Y274C probably benign Het
D2hgdh T C 1: 93,826,279 probably benign Het
Dgkh T A 14: 78,581,513 E919V probably damaging Het
Dnah1 A G 14: 31,262,580 Y3916H probably damaging Het
Dpp10 A G 1: 123,341,182 probably benign Het
Egfr A G 11: 16,910,214 T1043A probably benign Het
Elp5 T G 11: 69,967,109 probably null Het
Emilin3 A T 2: 160,908,482 M449K possibly damaging Het
Epb41l4a T G 18: 33,797,347 T686P probably damaging Het
Eppk1 A G 15: 76,105,236 C2482R probably benign Het
Eps8l3 T C 3: 107,884,867 L370P probably damaging Het
Erbin A T 13: 103,859,509 S228R probably damaging Het
Fam149a C T 8: 45,351,706 E280K probably benign Het
Fam78b T C 1: 167,001,744 I60T probably benign Het
Fank1 A T 7: 133,876,800 R197* probably null Het
Fbxo21 C T 5: 117,977,866 S83F possibly damaging Het
Fbxo4 G C 15: 3,979,300 T42R probably benign Het
Fhad1 C G 4: 141,909,749 E1135D probably damaging Het
Fmo1 T A 1: 162,830,053 E506D probably benign Het
Glipr1l2 A T 10: 112,106,840 T231S probably benign Het
Gm11651 C G 11: 105,973,091 probably benign Het
Gm16043 A G 6: 8,426,969 probably null Het
Gm5615 A T 9: 36,534,999 L39* probably null Het
Gm572 T G 4: 148,671,393 W389G unknown Het
Gpc6 G A 14: 117,951,182 W409* probably null Het
Gpr124 A G 8: 27,114,188 M469V possibly damaging Het
Gpr155 T C 2: 73,370,138 T342A probably benign Het
Hcn4 A C 9: 58,859,550 H798P unknown Het
Herc2 T C 7: 56,226,954 S4513P probably damaging Het
Hmcn1 G A 1: 150,808,737 R361C probably benign Het
Hoxa4 G T 6: 52,191,219 P157Q possibly damaging Het
Ift122 A C 6: 115,925,744 probably benign Het
Igfbpl1 G A 4: 45,826,756 S13L unknown Het
Igsf10 T C 3: 59,328,158 D1534G probably benign Het
Il1rap T G 16: 26,710,593 L339V possibly damaging Het
Irf2bpl C T 12: 86,883,455 R148H possibly damaging Het
Ivns1abp A T 1: 151,361,605 R58W probably damaging Het
Kcnq5 C T 1: 21,535,181 V167M probably damaging Het
Lrrcc1 G A 3: 14,545,596 C337Y probably damaging Het
Lrriq3 A G 3: 155,098,870 I56V probably benign Het
Marc1 T G 1: 184,807,049 T37P probably benign Het
Masp1 C A 16: 23,513,944 S47I probably damaging Het
Mcm7 A T 5: 138,167,446 probably benign Het
Mdm2 G T 10: 117,694,935 S210R probably damaging Het
Mical1 A G 10: 41,483,496 R500G possibly damaging Het
Myc A C 15: 61,987,693 T73P probably damaging Het
Myh15 G A 16: 49,196,891 probably null Het
Myh4 A G 11: 67,258,832 M1768V probably benign Het
Nap1l1 T C 10: 111,486,736 Y66H probably damaging Het
Ncoa1 C T 12: 4,323,005 R132K probably benign Het
Nfatc3 C T 8: 106,059,973 S28F possibly damaging Het
Nhlrc3 T A 3: 53,453,629 K235M probably damaging Het
Nrk G A X: 138,978,714 E757K probably damaging Het
Obsl1 G A 1: 75,506,167 P20S probably damaging Het
P2rx7 C T 5: 122,681,216 A567V probably damaging Het
Pcdhb15 G A 18: 37,475,671 R652H probably benign Het
Pcdhga4 T C 18: 37,686,214 V272A probably benign Het
Pcdhgb1 T G 18: 37,681,419 V321G probably damaging Het
Pde2a C G 7: 101,451,477 probably benign Het
Pdhb C T 14: 8,170,425 E109K probably damaging Het
Pkd1 C A 17: 24,569,511 L748M probably damaging Het
Pkdrej A G 15: 85,821,292 Y148H probably damaging Het
Polr3gl C G 3: 96,580,912 probably benign Het
Ppfia1 A T 7: 144,498,336 L882Q probably damaging Het
Ppp4r3b G T 11: 29,209,434 R596L probably benign Het
Ppp6r3 G A 19: 3,471,059 Q85* probably null Het
Prss8 A G 7: 127,922,252 probably benign Het
Rab22a A G 2: 173,695,170 I87V probably benign Het
Rev1 A C 1: 38,056,256 probably benign Het
Rnase13 A G 14: 51,922,530 Y51H probably damaging Het
Rnf26 T C 9: 44,112,645 H102R probably damaging Het
Rnf5 T C 17: 34,603,367 E36G probably damaging Het
Rplp1 T G 9: 61,914,376 D18A probably benign Het
Rrs1 C A 1: 9,545,925 D134E probably damaging Het
Sec14l1 A G 11: 117,143,803 Y166C probably damaging Het
Sec14l2 A T 11: 4,109,209 Y153* probably null Het
Senp1 A G 15: 98,084,989 L39P probably damaging Het
Senp2 T A 16: 22,014,114 probably benign Het
Sh3bp1 G A 15: 78,914,024 A19T probably benign Het
Sis G A 3: 72,922,829 P1130S probably damaging Het
Slc16a12 C T 19: 34,677,359 A95T possibly damaging Het
Slc22a4 A G 11: 54,027,957 V7A probably benign Het
Slc35c2 C T 2: 165,277,532 S296N probably benign Het
Slf1 A G 13: 77,050,050 probably benign Het
Slitrk6 A T 14: 110,750,427 V616E possibly damaging Het
Smarca2 T A 19: 26,649,093 M439K probably benign Het
Snx29 G A 16: 11,403,624 A305T probably benign Het
Socs5 C T 17: 87,133,616 probably benign Het
Spata31d1a G T 13: 59,701,196 H1039Q probably benign Het
Srgap1 G A 10: 121,896,753 probably benign Het
Synj1 A T 16: 90,964,508 I650N probably damaging Het
Tac4 A C 11: 95,267,364 probably benign Het
Tbck A C 3: 132,722,726 T281P probably benign Het
Tbx22 T C X: 107,677,005 L62P probably damaging Het
Terf2 G C 8: 107,096,302 R70G probably damaging Het
Tfdp1 C T 8: 13,372,526 P138S probably benign Het
Tigd2 T C 6: 59,211,248 Y367H probably damaging Het
Tmprss15 A T 16: 79,024,752 probably null Het
Tmprss6 C T 15: 78,440,627 G741D probably damaging Het
Tnrc6b A C 15: 80,929,186 T1715P probably damaging Het
Tpcn1 T C 5: 120,548,323 probably benign Het
Trappc2l T C 8: 122,613,135 S35P probably damaging Het
Trim63 T C 4: 134,321,173 probably benign Het
Trim66 G T 7: 109,475,247 D602E probably damaging Het
Trp53bp1 G A 2: 121,271,275 P2S probably damaging Het
Tspan14 A G 14: 40,915,531 L100P probably damaging Het
Tspan15 C T 10: 62,188,120 E260K probably damaging Het
Ubxn10 T C 4: 138,720,888 D159G probably benign Het
Unc5a T G 13: 55,003,896 V713G probably damaging Het
Usp16 C T 16: 87,473,132 A324V probably damaging Het
Uvssa G A 5: 33,402,570 R422Q possibly damaging Het
Wdr34 T C 2: 30,032,135 Y438C probably damaging Het
Wipf1 A C 2: 73,437,602 F151V probably damaging Het
Xpo1 A T 11: 23,276,437 K104N possibly damaging Het
Ybx3 T C 6: 131,379,459 T150A probably damaging Het
Zap70 T A 1: 36,779,169 S312R possibly damaging Het
Zfp534 T G 4: 147,675,423 K263T probably benign Het
Zfp534 T G 4: 147,675,460 N251H probably benign Het
Other mutations in Pkd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
R7950:Pkd2 UTSW 5 104483120 missense probably damaging 1.00
R7977:Pkd2 UTSW 5 104480237 missense probably damaging 1.00
R8251:Pkd2 UTSW 5 104498487 missense probably benign 0.01
Z1088:Pkd2 UTSW 5 104498861 missense probably damaging 1.00
Z1176:Pkd2 UTSW 5 104460049 missense probably benign 0.43
Predicted Primers
Posted On2017-11-21