Incidental Mutation 'IGL01943:Pkd2l2'
ID 180934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Name polycystic kidney disease 2-like 2
Synonyms Polycystin - L2, TRPP5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01943
Quality Score
Status
Chromosome 18
Chromosomal Location 34541553-34575842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34550089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 245 (F245L)
Ref Sequence ENSEMBL: ENSMUSP00000127257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
AlphaFold Q9JLG4
Predicted Effect probably damaging
Transcript: ENSMUST00000014647
AA Change: F245L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: F245L

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 damaging
Transcript: ENSMUST00000166156
AA Change: F245L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: F245L

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign Het
Other mutations in Pkd2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Pkd2l2 APN 18 34,550,068 (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
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
Posted On 2014-05-07