Incidental Mutation 'R8751:Pkd2'
ID 663836
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 068594-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8751 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 104607316-104653685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104637151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 588 (M588K)
Ref Sequence ENSEMBL: ENSMUSP00000084041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086831]
AlphaFold O35245
Predicted Effect probably damaging
Transcript: ENSMUST00000086831
AA Change: M588K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: M588K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,215,813 (GRCm39) I278N probably damaging Het
Adcy9 A G 16: 4,129,492 (GRCm39) W702R probably damaging Het
Adgrf5 G A 17: 43,748,574 (GRCm39) V468I possibly damaging Het
Ahnak A C 19: 8,987,509 (GRCm39) K2931T probably damaging Het
Ank3 C T 10: 69,761,849 (GRCm39) probably benign Het
Birc6 G A 17: 74,955,135 (GRCm39) V3480I probably damaging Het
Bpifa5 A T 2: 154,007,432 (GRCm39) I125L probably benign Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccm2l A T 2: 152,909,695 (GRCm39) I16F probably benign Het
Cep72 G A 13: 74,198,303 (GRCm39) S359F possibly damaging Het
Col1a1 A G 11: 94,838,100 (GRCm39) N844S unknown Het
Col7a1 C T 9: 108,796,730 (GRCm39) P1623S possibly damaging Het
Crybg1 T C 10: 43,880,838 (GRCm39) K117E probably benign Het
Csmd3 A G 15: 47,845,402 (GRCm39) C54R Het
Dlg1 A G 16: 31,600,648 (GRCm39) T211A probably benign Het
Emc1 C A 4: 139,097,279 (GRCm39) H724N possibly damaging Het
Epg5 A C 18: 78,008,223 (GRCm39) N784H probably benign Het
Epg5 T A 18: 78,008,225 (GRCm39) N784K probably benign Het
Epg5 A T 18: 78,008,224 (GRCm39) N784I possibly damaging Het
Erc2 A G 14: 27,802,145 (GRCm39) E771G possibly damaging Het
Exo1 T C 1: 175,719,678 (GRCm39) V241A probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Fbxo21 T A 5: 118,140,127 (GRCm39) M529K probably damaging Het
Fhad1 T C 4: 141,646,134 (GRCm39) E276G probably benign Het
Frem1 G A 4: 82,889,015 (GRCm39) T1069I probably damaging Het
Gapvd1 A C 2: 34,568,078 (GRCm39) F1429V probably damaging Het
Gbp9 T C 5: 105,229,117 (GRCm39) E510G possibly damaging Het
Gm17087 A T 17: 8,785,510 (GRCm39) H64Q probably damaging Het
Gm19965 A T 1: 116,749,867 (GRCm39) Y516F unknown Het
Hdac5 A T 11: 102,109,280 (GRCm39) I38N probably benign Het
Hectd4 T A 5: 121,501,838 (GRCm39) C4190* probably null Het
Helb A T 10: 119,925,412 (GRCm39) D988E probably benign Het
Herc6 C T 6: 57,639,359 (GRCm39) S909L probably damaging Het
Ice1 A T 13: 70,751,010 (GRCm39) V1692E probably damaging Het
Ino80 A G 2: 119,237,389 (GRCm39) Y1107H probably benign Het
Kif9 A T 9: 110,330,724 (GRCm39) Y350F probably benign Het
Lct T A 1: 128,221,534 (GRCm39) T1570S probably benign Het
Lias T A 5: 65,557,193 (GRCm39) N203K probably benign Het
Lrrtm4 A G 6: 79,999,092 (GRCm39) N168S probably damaging Het
Ltf A T 9: 110,860,192 (GRCm39) K538* probably null Het
Lysmd4 A G 7: 66,875,787 (GRCm39) D150G probably benign Het
Magi2 A G 5: 20,739,462 (GRCm39) D572G probably benign Het
Meiob T C 17: 25,047,008 (GRCm39) probably null Het
Ncor2 T C 5: 125,115,964 (GRCm39) Y130C Het
Ntmt2 T A 1: 163,544,738 (GRCm39) T82S probably benign Het
Ofcc1 A G 13: 40,409,072 (GRCm39) S118P probably benign Het
Or10g3 A G 14: 52,610,420 (GRCm39) F30S probably benign Het
Or2t45 A G 11: 58,669,213 (GRCm39) T87A probably benign Het
Or8b55 T A 9: 38,727,335 (GRCm39) C179S probably damaging Het
Parp14 A T 16: 35,677,181 (GRCm39) M929K probably benign Het
Pcdh8 T C 14: 80,006,229 (GRCm39) E778G probably benign Het
Pgls T C 8: 72,047,838 (GRCm39) V211A probably benign Het
Pms1 T C 1: 53,231,269 (GRCm39) N860S probably benign Het
Psg19 C T 7: 18,530,888 (GRCm39) V89M probably benign Het
Reln T C 5: 22,147,672 (GRCm39) H2426R probably benign Het
Ripor2 T A 13: 24,885,050 (GRCm39) N428K possibly damaging Het
Slc12a4 C T 8: 106,676,285 (GRCm39) probably null Het
Slc25a3 T C 10: 90,952,960 (GRCm39) I314V probably benign Het
Slc29a1 C A 17: 45,900,688 (GRCm39) V125F probably benign Het
Slc9a5 T A 8: 106,085,981 (GRCm39) C583S probably damaging Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Smg7 T C 1: 152,719,129 (GRCm39) D874G probably damaging Het
Spef2 T A 15: 9,729,723 (GRCm39) K132* probably null Het
Tap1 A G 17: 34,412,133 (GRCm39) K446R probably benign Het
Tcam1 A T 11: 106,176,443 (GRCm39) T390S possibly damaging Het
Tnik A G 3: 28,666,057 (GRCm39) N687D probably damaging Het
Trim42 T C 9: 97,251,852 (GRCm39) R16G possibly damaging Het
Vcp A C 4: 42,984,658 (GRCm39) L411W probably damaging Het
Vma21-ps C A 4: 52,496,973 (GRCm39) G91V probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r67 C T 7: 84,801,450 (GRCm39) C162Y probably benign Het
Vmn2r-ps117 A G 17: 19,044,021 (GRCm39) T366A probably benign Het
Zfp804a A G 2: 82,066,190 (GRCm39) K54E probably damaging Het
Other mutations in Pkd2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4582:Pkd2 UTSW 5 104,650,210 (GRCm39) nonsense probably null
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
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'- AAGGCTGTATTCTGACTCATCAAC -3'
(R):5'- ACTGGGCAATTTCATACATGTGC -3'

Sequencing Primer
(F):5'- TCTTCAGGGTGCCTCAAACAAATG -3'
(R):5'- CATACATGTGCAGAGAAATCTTTTC -3'
Posted On 2021-03-08