Incidental Mutation 'R7763:Pkd2l2'
ID 598094
Institutional Source Beutler Lab
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Name polycystic kidney disease 2-like 2
Synonyms Polycystin - L2, TRPP5
MMRRC Submission 045819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7763 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34541553-34575842 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 34566340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
AlphaFold Q9JLG4
Predicted Effect probably null
Transcript: ENSMUST00000014647
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:PKD_channel 75 497 9.8e-129 PFAM
Pfam:Ion_trans 281 490 4.1e-19 PFAM
coiled coil region 523 550 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166156
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:PKD_channel 75 497 9.6e-131 PFAM
Pfam:Ion_trans 242 502 4.8e-20 PFAM
coiled coil region 523 550 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted gene disruption display hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,113,825 (GRCm39) W899R probably damaging Het
Abca5 A T 11: 110,163,323 (GRCm39) W1631R possibly damaging Het
Actg2 T A 6: 83,504,350 (GRCm39) D25V probably damaging Het
Akap10 G C 11: 61,806,331 (GRCm39) D132E probably damaging Het
Angptl2 G T 2: 33,132,394 (GRCm39) E334* probably null Het
Aprt T C 8: 123,301,674 (GRCm39) R165G probably benign Het
Bmp1 A G 14: 70,729,524 (GRCm39) F549S probably damaging Het
Capzb C T 4: 139,007,864 (GRCm39) T215I probably benign Het
Car14 C T 3: 95,811,684 (GRCm39) M1I probably null Het
Ccdc148 T A 2: 58,713,648 (GRCm39) Q501L probably benign Het
Ccdc32 G A 2: 118,857,828 (GRCm39) T12I probably damaging Het
Ccnf G A 17: 24,443,986 (GRCm39) S594L probably damaging Het
Cdadc1 C T 14: 59,811,283 (GRCm39) C409Y probably damaging Het
Cdh23 G T 10: 60,148,356 (GRCm39) S2670R probably damaging Het
Cdh8 T A 8: 100,006,306 (GRCm39) K94* probably null Het
Cdhr2 A T 13: 54,865,505 (GRCm39) Y193F probably damaging Het
Cdon T A 9: 35,365,711 (GRCm39) Y153* probably null Het
Chd1 G A 17: 15,953,303 (GRCm39) G413R probably damaging Het
Cit A T 5: 116,125,060 (GRCm39) T1582S probably benign Het
Clec4a3 T C 6: 122,941,299 (GRCm39) L98P probably benign Het
Cpa4 T A 6: 30,583,644 (GRCm39) D253E probably damaging Het
Cyp2c40 T A 19: 39,795,612 (GRCm39) N189I possibly damaging Het
Daam2 G T 17: 49,797,050 (GRCm39) A245E probably benign Het
Dennd5b A G 6: 148,970,156 (GRCm39) F121S probably damaging Het
Dgkd A G 1: 87,854,671 (GRCm39) T658A probably benign Het
Dmwd T A 7: 18,814,265 (GRCm39) L305Q probably damaging Het
Dnah5 A T 15: 28,314,001 (GRCm39) Y1939F probably damaging Het
Dock5 T C 14: 68,058,776 (GRCm39) T512A probably damaging Het
Dop1b T A 16: 93,552,402 (GRCm39) D398E probably benign Het
Eef1akmt4 A G 16: 20,437,279 (GRCm39) H207R probably damaging Het
Egfr T C 11: 16,841,266 (GRCm39) V719A probably damaging Het
Ep300 A T 15: 81,470,784 (GRCm39) probably benign Het
Epha4 A G 1: 77,366,668 (GRCm39) probably null Het
Erc2 T G 14: 27,598,161 (GRCm39) probably null Het
Ergic1 A T 17: 26,857,801 (GRCm39) Y209F possibly damaging Het
Fbxw28 A G 9: 109,155,701 (GRCm39) I357T probably damaging Het
Flnb A T 14: 7,926,478 (GRCm38) T1841S probably benign Het
Foxc1 G A 13: 31,992,011 (GRCm39) S274N probably benign Het
Fto C T 8: 92,136,071 (GRCm39) T115M probably damaging Het
Gm10228 C G 16: 88,838,187 (GRCm39) C39S unknown Het
Gm7334 T C 17: 51,005,743 (GRCm39) F10L possibly damaging Het
Hfm1 A G 5: 107,029,727 (GRCm39) Y785H probably damaging Het
Hivep1 T A 13: 42,312,937 (GRCm39) S1726T probably benign Het
Htt G T 5: 35,009,534 (GRCm39) C1505F probably damaging Het
Hydin T C 8: 111,232,475 (GRCm39) S1665P possibly damaging Het
Ifi209 T A 1: 173,470,445 (GRCm39) N344K probably damaging Het
Ifnar2 T C 16: 91,196,181 (GRCm39) M262T probably benign Het
Ighv7-3 T A 12: 114,116,827 (GRCm39) S112C probably damaging Het
Igkv4-86 A G 6: 68,887,563 (GRCm39) S59P probably benign Het
Iglv1 A G 16: 18,904,239 (GRCm39) probably benign Het
Ipo7 T A 7: 109,652,006 (GRCm39) D928E possibly damaging Het
Itgae G T 11: 73,014,095 (GRCm39) probably null Het
Kbtbd12 T A 6: 88,595,179 (GRCm39) Q217L probably benign Het
Kcnma1 T A 14: 23,350,074 (GRCm39) Y1155F possibly damaging Het
Kif14 A G 1: 136,444,121 (GRCm39) E1371G probably benign Het
Lilrb4a A T 10: 51,367,142 (GRCm39) Y10F probably benign Het
Lrp2 A T 2: 69,333,732 (GRCm39) V1503E probably damaging Het
Mfsd6 A T 1: 52,747,799 (GRCm39) D355E probably benign Het
Mri1 T C 8: 84,977,657 (GRCm39) H226R Het
Mroh4 C T 15: 74,496,554 (GRCm39) E278K probably damaging Het
Muc4 T A 16: 32,574,739 (GRCm39) L1063H probably benign Het
Mzf1 A T 7: 12,778,018 (GRCm39) I541N probably damaging Het
Nasp T A 4: 116,469,230 (GRCm39) E116D probably benign Het
Nlrp10 T A 7: 108,525,033 (GRCm39) E149V probably damaging Het
Notch4 G A 17: 34,801,392 (GRCm39) C1080Y probably damaging Het
Nova1 T G 12: 46,767,481 (GRCm39) I147L unknown Het
Ogdh A G 11: 6,288,558 (GRCm39) M223V probably benign Het
Or2a56 T C 6: 42,932,723 (GRCm39) I97T probably benign Het
Or2y1e G T 11: 49,218,498 (GRCm39) A87S probably benign Het
Or4n4 A T 14: 50,518,945 (GRCm39) I255N probably damaging Het
Or6c66b G T 10: 129,377,324 (GRCm39) R306L probably benign Het
P3h3 T C 6: 124,831,395 (GRCm39) Q330R probably benign Het
Pcdhb10 A G 18: 37,544,935 (GRCm39) T4A not run Het
Plekhb1 C T 7: 100,294,870 (GRCm39) V168I probably benign Het
Plxna4 C T 6: 32,200,915 (GRCm39) R753H probably damaging Het
Pramel17 T C 4: 101,694,338 (GRCm39) I182V possibly damaging Het
Prex1 G C 2: 166,555,629 (GRCm39) P4A unknown Het
Ptgdr A G 14: 45,096,535 (GRCm39) V59A probably damaging Het
Ralgapa1 T A 12: 55,804,740 (GRCm39) I519F probably benign Het
Rbpms A G 8: 34,279,481 (GRCm39) I170T probably benign Het
Sec31b T A 19: 44,512,274 (GRCm39) probably null Het
Skint11 A T 4: 114,084,905 (GRCm39) Y138F probably benign Het
Slain2 A G 5: 73,105,953 (GRCm39) Y196C probably damaging Het
Slco1b2 T A 6: 141,621,950 (GRCm39) C503* probably null Het
Slfn3 A T 11: 83,105,614 (GRCm39) Y537F possibly damaging Het
Slu7 T C 11: 43,335,592 (GRCm39) Y443H probably damaging Het
Sorl1 T A 9: 41,955,205 (GRCm39) E683D probably damaging Het
Sos1 T A 17: 80,721,142 (GRCm39) I893L probably benign Het
St8sia2 T A 7: 73,593,069 (GRCm39) Y329F probably damaging Het
Stra6l C A 4: 45,869,570 (GRCm39) S212* probably null Het
Syne3 C T 12: 104,963,754 (GRCm39) probably benign Het
Tenm4 T A 7: 96,544,899 (GRCm39) I2342N probably benign Het
Tescl T A 7: 24,032,688 (GRCm39) E212D probably benign Het
Trip11 A G 12: 101,811,114 (GRCm39) S1879P probably benign Het
Ube2c A T 2: 164,613,211 (GRCm39) probably null Het
Umodl1 T A 17: 31,205,430 (GRCm39) I675N probably benign Het
Vipr2 T C 12: 116,086,338 (GRCm39) F121S probably damaging Het
Vmn1r206 A T 13: 22,804,839 (GRCm39) S123T possibly damaging Het
Vmn1r58 A G 7: 5,413,912 (GRCm39) V106A probably damaging Het
Vmn2r112 A G 17: 22,822,099 (GRCm39) Y259C probably damaging Het
Vmn2r66 T C 7: 84,654,909 (GRCm39) K467E probably benign Het
Vmn2r98 T C 17: 19,300,797 (GRCm39) F600L probably benign Het
Vps13a T A 19: 16,723,364 (GRCm39) N278I possibly damaging Het
Vwa5a A C 9: 38,652,458 (GRCm39) D747A possibly damaging Het
Xdh G A 17: 74,241,829 (GRCm39) P157S possibly damaging Het
Xrn1 G A 9: 95,880,401 (GRCm39) probably null Het
Zfp362 T A 4: 128,680,824 (GRCm39) H180L probably benign Het
Zfp560 A T 9: 20,258,619 (GRCm39) W748R possibly damaging Het
Zfp808 A T 13: 62,320,478 (GRCm39) Q569L probably benign Het
Zfp93 T A 7: 23,974,643 (GRCm39) D209E possibly damaging Het
Zftraf1 A T 15: 76,542,747 (GRCm39) Y138N probably damaging Het
Other mutations in Pkd2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Pkd2l2 APN 18 34,550,068 (GRCm39) missense probably damaging 1.00
IGL01943:Pkd2l2 APN 18 34,550,089 (GRCm39) missense probably damaging 1.00
IGL02039:Pkd2l2 APN 18 34,568,421 (GRCm39) critical splice donor site probably null
IGL02139:Pkd2l2 APN 18 34,545,768 (GRCm39) nonsense probably null
IGL02480:Pkd2l2 APN 18 34,571,843 (GRCm39) missense possibly damaging 0.48
IGL02742:Pkd2l2 APN 18 34,549,970 (GRCm39) nonsense probably null
IGL02818:Pkd2l2 APN 18 34,545,862 (GRCm39) missense probably damaging 0.97
IGL03218:Pkd2l2 APN 18 34,563,373 (GRCm39) missense probably damaging 1.00
IGL03345:Pkd2l2 APN 18 34,558,142 (GRCm39) missense probably damaging 1.00
R0362:Pkd2l2 UTSW 18 34,568,380 (GRCm39) missense probably benign 0.03
R0627:Pkd2l2 UTSW 18 34,558,155 (GRCm39) missense probably damaging 1.00
R0883:Pkd2l2 UTSW 18 34,563,321 (GRCm39) splice site probably null
R0973:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R0973:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R0974:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R1199:Pkd2l2 UTSW 18 34,571,269 (GRCm39) critical splice donor site probably null
R1529:Pkd2l2 UTSW 18 34,563,755 (GRCm39) missense probably damaging 1.00
R1579:Pkd2l2 UTSW 18 34,560,446 (GRCm39) missense possibly damaging 0.49
R2229:Pkd2l2 UTSW 18 34,563,382 (GRCm39) missense probably damaging 1.00
R3695:Pkd2l2 UTSW 18 34,571,843 (GRCm39) missense possibly damaging 0.48
R4058:Pkd2l2 UTSW 18 34,561,245 (GRCm39) missense probably benign 0.22
R4600:Pkd2l2 UTSW 18 34,571,254 (GRCm39) missense probably benign 0.03
R4651:Pkd2l2 UTSW 18 34,542,889 (GRCm39) nonsense probably null
R4652:Pkd2l2 UTSW 18 34,542,889 (GRCm39) nonsense probably null
R5114:Pkd2l2 UTSW 18 34,566,355 (GRCm39) missense probably benign
R5341:Pkd2l2 UTSW 18 34,542,987 (GRCm39) splice site probably null
R5686:Pkd2l2 UTSW 18 34,558,290 (GRCm39) missense probably damaging 1.00
R5920:Pkd2l2 UTSW 18 34,563,826 (GRCm39) missense probably benign
R6061:Pkd2l2 UTSW 18 34,563,742 (GRCm39) missense probably damaging 1.00
R6167:Pkd2l2 UTSW 18 34,561,297 (GRCm39) missense probably damaging 1.00
R6217:Pkd2l2 UTSW 18 34,547,733 (GRCm39) missense probably benign 0.03
R6293:Pkd2l2 UTSW 18 34,560,497 (GRCm39) missense probably damaging 1.00
R6572:Pkd2l2 UTSW 18 34,571,824 (GRCm39) missense probably damaging 0.99
R6574:Pkd2l2 UTSW 18 34,558,134 (GRCm39) missense probably damaging 1.00
R6723:Pkd2l2 UTSW 18 34,571,210 (GRCm39) missense probably damaging 0.98
R6941:Pkd2l2 UTSW 18 34,549,936 (GRCm39) missense probably benign 0.02
R6958:Pkd2l2 UTSW 18 34,542,543 (GRCm39) nonsense probably null
R7052:Pkd2l2 UTSW 18 34,558,212 (GRCm39) missense possibly damaging 0.90
R7695:Pkd2l2 UTSW 18 34,561,298 (GRCm39) missense possibly damaging 0.77
R7777:Pkd2l2 UTSW 18 34,549,913 (GRCm39) missense probably damaging 1.00
R7944:Pkd2l2 UTSW 18 34,560,481 (GRCm39) missense possibly damaging 0.90
R8003:Pkd2l2 UTSW 18 34,561,232 (GRCm39) missense probably damaging 1.00
R8468:Pkd2l2 UTSW 18 34,560,464 (GRCm39) missense possibly damaging 0.88
R8482:Pkd2l2 UTSW 18 34,558,166 (GRCm39) missense possibly damaging 0.52
R8729:Pkd2l2 UTSW 18 34,566,354 (GRCm39) missense probably benign
R8894:Pkd2l2 UTSW 18 34,571,273 (GRCm39) splice site probably benign
R9336:Pkd2l2 UTSW 18 34,561,158 (GRCm39) missense probably damaging 1.00
R9408:Pkd2l2 UTSW 18 34,563,383 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTGACAAAGTTCCTGCTCC -3'
(R):5'- ACCCTGTCCTAAGTTGAATGTCTG -3'

Sequencing Primer
(F):5'- GACAAAGTTCCTGCTCCTTCATAAAG -3'
(R):5'- GATGTTCTTTACAGAATTTGCA -3'
Posted On 2019-11-26