Incidental Mutation 'R5542:Pkd2'
ID 501166
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 043100-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104607316-104653685 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 104634515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000084041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086831]
AlphaFold O35245
Predicted Effect silent
Transcript: ENSMUST00000086831
SMART Domains Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign 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
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
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'- AAGGAAATGTTGGCTGCCG -3'
(R):5'- CATCTGGCCATTTCAATCAGCC -3'

Sequencing Primer
(F):5'- CCGGTCGTTTGCACATTTAGAGC -3'
(R):5'- TGGCCATTTCAATCAGCCTAAAAAGG -3'
Posted On 2017-12-01