Incidental Mutation 'R5114:Pkd2l2'
ID 394126
Institutional Source Beutler Lab
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Name polycystic kidney disease 2-like 2
Synonyms Polycystin - L2, TRPP5
MMRRC Submission 042702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5114 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 34541553-34575842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34566355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 522 (V522D)
Ref Sequence ENSEMBL: ENSMUSP00000127257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
AlphaFold Q9JLG4
Predicted Effect probably benign
Transcript: ENSMUST00000014647
AA Change: V522D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: V522D

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 benign
Transcript: ENSMUST00000166156
AA Change: V522D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: V522D

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
Meta Mutation Damage Score 0.1572 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (93/94)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T A 9: 120,406,693 (GRCm39) probably benign Het
Ada G A 2: 163,572,406 (GRCm39) R225C probably benign Het
Adamts9 T C 6: 92,867,254 (GRCm39) K625R probably benign Het
Ano1 T C 7: 144,210,820 (GRCm39) I182V possibly damaging Het
Aoc1l2 A T 6: 48,908,292 (GRCm39) M431L probably benign Het
Aox4 T C 1: 58,285,445 (GRCm39) V643A possibly damaging Het
Arcn1 T C 9: 44,671,441 (GRCm39) I29V probably benign Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Asb10 A T 5: 24,745,740 (GRCm39) L62Q probably damaging Het
Atp23 T A 10: 126,723,403 (GRCm39) H233L possibly damaging Het
Bglap2 C T 3: 88,289,432 (GRCm39) probably benign Het
Carnmt1 T C 19: 18,655,098 (GRCm39) S84P probably damaging Het
Ccdc152 A G 15: 3,312,319 (GRCm39) I180T probably damaging Het
Cdr2l T C 11: 115,284,186 (GRCm39) F174S probably damaging Het
Celsr2 C T 3: 108,301,312 (GRCm39) V2695I probably benign Het
Chd1 C A 17: 15,948,460 (GRCm39) S127R probably benign Het
Chmp4c T A 3: 10,450,646 (GRCm39) F75L probably benign Het
Col13a1 A C 10: 61,725,880 (GRCm39) V260G possibly damaging Het
Col5a1 A G 2: 27,915,664 (GRCm39) N183D probably damaging Het
Cpn1 C T 19: 43,974,634 (GRCm39) V32M probably damaging Het
Cxcl1 A G 5: 91,039,373 (GRCm39) M39V probably benign Het
Dpep2 T A 8: 106,712,825 (GRCm39) D455V probably damaging Het
Dpp7 G A 2: 25,242,749 (GRCm39) T441I possibly damaging Het
Dst C A 1: 34,241,640 (GRCm39) H4001N probably damaging Het
Epg5 G A 18: 78,038,828 (GRCm39) A1519T probably benign Het
Esrp2 C T 8: 106,858,820 (GRCm39) V606I probably benign Het
Fbxo40 T C 16: 36,789,236 (GRCm39) K625E probably damaging Het
Gbp2b A T 3: 142,303,946 (GRCm39) I14F probably damaging Het
Gpr37l1 G T 1: 135,094,676 (GRCm39) F189L probably damaging Het
Heatr5a G A 12: 52,003,020 (GRCm39) Q161* probably null Het
Hspa4l T C 3: 40,700,197 (GRCm39) Y30H possibly damaging Het
Hspg2 G A 4: 137,239,237 (GRCm39) C388Y probably damaging Het
Kcna1 A G 6: 126,619,330 (GRCm39) I330T probably damaging Het
Klhl3 T A 13: 58,166,781 (GRCm39) Y350F probably benign Het
Kntc1 T C 5: 123,919,118 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,520 (GRCm39) C109* probably null Het
Lrch4 T C 5: 137,636,179 (GRCm39) S377P probably benign Het
Lrrc8c C A 5: 105,755,349 (GRCm39) H375N probably damaging Het
Lsg1 T C 16: 30,380,538 (GRCm39) E633G probably damaging Het
Mcoln1 T C 8: 3,560,697 (GRCm39) probably benign Het
Med12l C A 3: 59,167,109 (GRCm39) T1523K possibly damaging Het
Mrps27 A T 13: 99,547,973 (GRCm39) probably benign Het
Mzb1 T A 18: 35,780,717 (GRCm39) Y158F probably benign Het
Nat8l T A 5: 34,155,823 (GRCm39) C160S probably damaging Het
Ncf4 T C 15: 78,146,593 (GRCm39) probably benign Het
Or1b1 A T 2: 36,994,814 (GRCm39) Y283N probably damaging Het
Or1o3 T C 17: 37,573,730 (GRCm39) Y275C probably damaging Het
Pak2 T A 16: 31,861,936 (GRCm39) probably benign Het
Pcdhga12 T C 18: 37,901,160 (GRCm39) I664T probably benign Het
Pcnx2 A C 8: 126,564,749 (GRCm39) L1048R possibly damaging Het
Pcsk5 T C 19: 17,652,949 (GRCm39) M246V probably damaging Het
Plekhh1 A T 12: 79,115,880 (GRCm39) M808L probably benign Het
Plpp2 C A 10: 79,362,973 (GRCm39) R157L probably benign Het
Plrg1 T A 3: 82,978,558 (GRCm39) H441Q probably benign Het
Pnpla6 T C 8: 3,572,613 (GRCm39) V300A probably damaging Het
Ptprb A T 10: 116,184,088 (GRCm39) K1633N possibly damaging Het
Ralgapa1 A G 12: 55,659,508 (GRCm39) V2004A possibly damaging Het
Rasd1 G T 11: 59,854,933 (GRCm39) S182R possibly damaging Het
Rc3h2 A T 2: 37,288,373 (GRCm39) probably null Het
Rrp1b T A 17: 32,255,445 (GRCm39) probably benign Het
Ruvbl1 T C 6: 88,474,272 (GRCm39) I425T probably benign Het
Shisal1 T C 15: 84,301,427 (GRCm39) D72G probably damaging Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Slc12a2 A G 18: 58,032,344 (GRCm39) Y348C probably damaging Het
Slc14a2 C A 18: 78,238,963 (GRCm39) V219L possibly damaging Het
Smc1b G T 15: 84,949,185 (GRCm39) P1242Q probably damaging Het
Smim33 A G 18: 35,861,894 (GRCm39) Y126C probably damaging Het
Snx27 T A 3: 94,431,551 (GRCm39) D281V probably damaging Het
Spem2 C T 11: 69,707,973 (GRCm39) V331I probably benign Het
Sptb C A 12: 76,656,052 (GRCm39) K1343N probably damaging Het
Sult2a8 T C 7: 14,147,584 (GRCm39) I236V probably benign Het
Syk A G 13: 52,765,071 (GRCm39) E66G probably damaging Het
Synm T A 7: 67,385,406 (GRCm39) E310V probably damaging Het
Tas2r118 G A 6: 23,969,209 (GRCm39) A284V probably benign Het
Thoc2l T A 5: 104,667,742 (GRCm39) F755I probably damaging Het
Tlr11 A G 14: 50,600,578 (GRCm39) N855D possibly damaging Het
Tmem230 G T 2: 132,087,871 (GRCm39) probably benign Het
Trappc8 G A 18: 20,977,237 (GRCm39) T844I probably benign Het
Trmt44 T C 5: 35,722,812 (GRCm39) S419G possibly damaging Het
Trpv1 T A 11: 73,132,574 (GRCm39) V396E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp2 A G 7: 139,587,354 (GRCm39) I337T possibly damaging Het
Ubr4 T C 4: 139,137,934 (GRCm39) I1097T probably damaging Het
Vmn2r61 T C 7: 41,949,953 (GRCm39) F791S possibly damaging Het
Zdhhc2 T A 8: 40,898,825 (GRCm39) M45K probably benign Het
Zfp383 T A 7: 29,614,166 (GRCm39) D140E probably damaging Het
Zfp712 C A 13: 67,189,425 (GRCm39) K367N probably damaging Het
Zfp763 C T 17: 33,237,949 (GRCm39) A399T 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
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
R7763:Pkd2l2 UTSW 18 34,566,340 (GRCm39) critical splice acceptor site probably null
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'- TTCATAAAGGCACAGTGAGAGGA -3'
(R):5'- CCCTGTCCTAAGTTGAATGTCTG -3'

Sequencing Primer
(F):5'- TAGGCAGGAGTCCTTACA -3'
(R):5'- GATGTTCTTTACAGAATTTGCA -3'
Posted On 2016-06-15