Incidental Mutation 'R6837:Pkd2'
ID 537892
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 044945-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6837 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104607316-104653685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104624909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 235 (L235W)
Ref Sequence ENSEMBL: ENSMUSP00000084041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086831]
AlphaFold O35245
Predicted Effect probably damaging
Transcript: ENSMUST00000086831
AA Change: L235W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: L235W

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
Meta Mutation Damage Score 0.6507 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 53,188,045 (GRCm39) E1820K probably damaging Het
Anxa8 A T 14: 33,814,511 (GRCm39) I116F probably damaging Het
Arid4a A G 12: 71,122,289 (GRCm39) D890G probably benign Het
Aup1 C T 6: 83,034,279 (GRCm39) T396I possibly damaging Het
C2cd3 G C 7: 100,097,953 (GRCm39) E594Q probably damaging Het
Colgalt2 C T 1: 152,382,579 (GRCm39) P477L probably damaging Het
Dennd3 G A 15: 73,429,542 (GRCm39) D20N probably damaging Het
Dpysl3 A G 18: 43,570,947 (GRCm39) I109T probably benign Het
Fas A T 19: 34,284,564 (GRCm39) T24S probably damaging Het
Fras1 A T 5: 96,874,832 (GRCm39) I2332F probably damaging Het
Gm10267 T C 18: 44,291,375 (GRCm39) H32R probably benign Het
Gm57859 A G 11: 113,579,439 (GRCm39) H278R possibly damaging Het
Hcfc2 A T 10: 82,575,030 (GRCm39) I230F probably damaging Het
Hdac9 T C 12: 34,337,463 (GRCm39) T673A probably benign Het
Herc2 T G 7: 55,839,589 (GRCm39) N3366K possibly damaging Het
Hhla1 T C 15: 65,820,334 (GRCm39) N139D probably damaging Het
Hip1r A G 5: 124,136,928 (GRCm39) E632G possibly damaging Het
Kcnc2 A G 10: 112,294,407 (GRCm39) D98G probably damaging Het
Maip1 T A 1: 57,454,891 (GRCm39) *292K probably null Het
Map2 T C 1: 66,453,731 (GRCm39) F874L probably damaging Het
Myof A T 19: 37,911,404 (GRCm39) probably null Het
Notch2 A G 3: 97,978,170 (GRCm39) probably null Het
Npy5r T A 8: 67,134,392 (GRCm39) M134L probably benign Het
Ntsr2 T A 12: 16,709,710 (GRCm39) M225K probably benign Het
Nup153 G A 13: 46,847,527 (GRCm39) T634I probably damaging Het
Or51f1d T A 7: 102,700,929 (GRCm39) Y141* probably null Het
Pcsk5 T C 19: 17,416,448 (GRCm39) S1667G probably benign Het
Pex13 A G 11: 23,599,527 (GRCm39) I328T possibly damaging Het
Prune2 A T 19: 17,156,292 (GRCm39) D66V probably damaging Het
Rasal3 T C 17: 32,622,044 (GRCm39) N105S probably benign Het
Sla A T 15: 66,658,939 (GRCm39) I144N probably damaging Het
Slc5a4b A T 10: 75,898,220 (GRCm39) I498N possibly damaging Het
Snx14 C T 9: 88,262,276 (GRCm39) E872K probably benign Het
Stx16 G A 2: 173,935,795 (GRCm39) R242H probably benign Het
Tg T C 15: 66,567,984 (GRCm39) F1296S probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmf1 G A 6: 97,153,542 (GRCm39) T177M possibly damaging Het
Tuba4a T C 1: 75,194,038 (GRCm39) Q14R probably damaging Het
Vmn2r114 T C 17: 23,529,176 (GRCm39) M309V probably benign Het
Vps13c C T 9: 67,817,504 (GRCm39) P1059S probably benign Het
Yars1 T A 4: 129,103,544 (GRCm39) S298T possibly 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
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
R8751:Pkd2 UTSW 5 104,637,151 (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'- GAGCCACCTTGCTACACATTTC -3'
(R):5'- TCACATCTCCTGAAGATACTTATGGG -3'

Sequencing Primer
(F):5'- CCTTGCTACACATTTCTTACATTAAC -3'
(R):5'- GGGTTGAATTTACTATACCAAGTCAG -3'
Posted On 2018-10-18