Incidental Mutation 'IGL02146:Pkd2'
ID281767
Institutional Source Australian Phenomics Network (link to record)
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 #IGL02146
Quality Score
Status
Chromosome5
Chromosomal Location104459450-104505819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 104489291 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 590 (R590L)
Ref Sequence ENSEMBL: ENSMUSP00000084041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086831]
Predicted Effect probably damaging
Transcript: ENSMUST00000086831
AA Change: R590L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: R590L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133540
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,256,740 C784R possibly damaging Het
Akp3 A T 1: 87,126,575 D278V probably benign Het
Atxn7l1 G T 12: 33,368,031 R730S probably benign Het
Bag6 A G 17: 35,136,215 T30A probably damaging Het
Blk G T 14: 63,374,199 P429H probably damaging Het
Bmp2k T A 5: 97,064,830 M524K unknown Het
Bst1 T A 5: 43,826,336 H221Q probably damaging Het
Ces2g T C 8: 104,966,944 I419T possibly damaging Het
Cnep1r1 T C 8: 88,129,698 V34A probably benign Het
Ctnnbl1 A G 2: 157,819,494 E308G probably damaging Het
Cyp20a1 A T 1: 60,371,251 K237I possibly damaging Het
Dlg5 T C 14: 24,202,361 T104A probably damaging Het
Dnah9 C T 11: 65,927,700 V3271M probably damaging Het
Eed T A 7: 89,969,595 N204Y possibly damaging Het
Fat3 A G 9: 15,999,582 V1708A probably benign Het
Fcrl6 T C 1: 172,598,697 T178A probably benign Het
Galnt4 A C 10: 99,109,701 K429N possibly damaging Het
Ints6 T A 14: 62,759,260 T94S possibly damaging Het
Iqsec3 A T 6: 121,383,957 S981T probably damaging Het
Itga9 T A 9: 118,834,332 S146T possibly damaging Het
Itpr3 A G 17: 27,117,275 Y2325C probably damaging Het
Kng2 T A 16: 22,987,832 Q539L probably damaging Het
Lmtk3 T A 7: 45,794,947 probably benign Het
Lrrc6 C T 15: 66,489,525 W42* probably null Het
Lrrc6 C A 15: 66,489,526 W42L probably benign Het
Map1a T C 2: 121,299,446 Y248H probably damaging Het
Mroh1 A G 15: 76,434,679 probably benign Het
Mroh2b T C 15: 4,951,294 probably null Het
Myo18b A T 5: 112,843,285 M942K probably damaging Het
Myzap T A 9: 71,564,448 T94S probably benign Het
Nebl C A 2: 17,348,868 R957S probably damaging Het
Nexn A T 3: 152,247,248 D278E probably benign Het
Nlgn1 A T 3: 25,912,682 N222K probably damaging Het
Olfr26 G A 9: 38,855,358 A99T probably benign Het
Olfr809 T A 10: 129,776,858 probably benign Het
Osbpl6 A T 2: 76,549,750 R79S possibly damaging Het
Phip T C 9: 82,881,718 I1268M probably benign Het
Reg2 G A 6: 78,405,585 probably benign Het
Scaf1 A T 7: 45,013,510 D26E probably damaging Het
Ska1 A G 18: 74,196,910 I253T possibly damaging Het
Slc11a2 T C 15: 100,401,288 N443D probably damaging Het
Slc6a12 A T 6: 121,353,501 T155S probably benign Het
Slit3 A G 11: 35,234,848 K118R possibly damaging Het
Snap23 T G 2: 120,599,311 N212K probably damaging Het
Snx13 T A 12: 35,101,079 D346E probably benign Het
Sumf1 C A 6: 108,173,431 probably null Het
Susd2 T C 10: 75,638,433 N479S possibly damaging Het
Tiam1 A G 16: 89,849,681 I821T probably benign Het
Tll2 C A 19: 41,097,837 V651L probably benign Het
Vmn2r1 A G 3: 64,104,683 D655G probably benign Het
Vmn2r72 T C 7: 85,737,962 Y798C probably damaging Het
Vps13b A C 15: 35,646,333 I1528L probably benign Het
Wdtc1 G A 4: 133,301,765 L337F probably benign Het
Zfp128 A C 7: 12,890,032 K109T possibly damaging 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
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
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
Posted On2015-04-16