Incidental Mutation 'IGL02139:Pkd2l2'
ID281465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Namepolycystic kidney disease 2-like 2
SynonymsTRPP5, Polycystin - L2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02139
Quality Score
Status
Chromosome18
Chromosomal Location34409423-34442789 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 34412715 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 56 (Y56*)
Ref Sequence ENSEMBL: ENSMUSP00000127257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
Predicted Effect probably null
Transcript: ENSMUST00000014647
AA Change: Y56*
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: Y56*

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
AA Change: Y56*
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: Y56*

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik G A 4: 124,610,576 T61M unknown Het
Ambn T C 5: 88,465,290 F217L probably benign Het
Cast T C 13: 74,728,365 D121G possibly damaging Het
Clmn T C 12: 104,781,099 I730V probably benign Het
Cryzl1 T C 16: 91,712,251 K54R possibly damaging Het
Cyp3a16 A G 5: 145,455,480 S222P probably benign Het
Dcstamp T C 15: 39,754,458 S88P probably damaging Het
F5 A G 1: 164,192,674 D906G possibly damaging Het
Fam193a A G 5: 34,444,737 T428A probably benign Het
Fbxw16 T G 9: 109,436,686 D355A probably benign Het
Focad T C 4: 88,129,054 probably null Het
Ftsj3 G A 11: 106,254,663 P82S possibly damaging Het
Gm5346 T A 8: 43,625,578 R536S probably benign Het
Grwd1 A T 7: 45,827,243 H307Q probably damaging Het
Hip1r T C 5: 123,996,244 F289S probably damaging Het
Igkc C T 6: 70,726,575 R47* probably null Het
Lcn3 T C 2: 25,766,634 F100S possibly damaging Het
Lmnb1 T C 18: 56,749,799 F572S probably benign Het
Mrps17 T A 5: 129,716,796 I18N probably damaging Het
Myo9a G A 9: 59,779,992 V127I probably benign Het
Olfr1000 T A 2: 85,608,230 K227* probably null Het
Olfr1260 T C 2: 89,978,429 V217A possibly damaging Het
Olfr168 T C 16: 19,530,890 D10G probably benign Het
Pcdhb21 A G 18: 37,515,246 D476G probably damaging Het
Pld1 C A 3: 28,120,812 D86E probably damaging Het
Plpp1 A G 13: 112,856,899 T122A probably benign Het
Prkag3 A G 1: 74,740,724 I484T probably benign Het
Prl7d1 T A 13: 27,712,083 I104F probably damaging Het
Prr14l A G 5: 32,827,532 S1540P probably damaging Het
Pyroxd1 T G 6: 142,354,731 S196A probably benign Het
Rbm42 G A 7: 30,645,705 P185S unknown Het
Ror2 T A 13: 53,111,164 I619F probably damaging Het
Slitrk4 T G X: 64,270,949 E704A probably benign Het
Sycp1 A G 3: 102,865,114 V626A probably benign Het
Trmt44 T A 5: 35,568,799 K345* probably null Het
Ugt1a6b T A 1: 88,107,805 probably benign Het
Ulk4 T A 9: 121,141,831 probably null Het
Zfp618 G T 4: 63,133,536 K758N probably damaging Het
Zfp819 G T 7: 43,612,110 probably null Het
Other mutations in Pkd2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Pkd2l2 APN 18 34417015 missense probably damaging 1.00
IGL01943:Pkd2l2 APN 18 34417036 missense probably damaging 1.00
IGL02039:Pkd2l2 APN 18 34435368 critical splice donor site probably null
IGL02480:Pkd2l2 APN 18 34438790 missense possibly damaging 0.48
IGL02742:Pkd2l2 APN 18 34416917 nonsense probably null
IGL02818:Pkd2l2 APN 18 34412809 missense probably damaging 0.97
IGL03218:Pkd2l2 APN 18 34430320 missense probably damaging 1.00
IGL03345:Pkd2l2 APN 18 34425089 missense probably damaging 1.00
R0362:Pkd2l2 UTSW 18 34435327 missense probably benign 0.03
R0627:Pkd2l2 UTSW 18 34425102 missense probably damaging 1.00
R0883:Pkd2l2 UTSW 18 34430268 synonymous probably null
R0973:Pkd2l2 UTSW 18 34428252 missense probably damaging 1.00
R0973:Pkd2l2 UTSW 18 34428252 missense probably damaging 1.00
R0974:Pkd2l2 UTSW 18 34428252 missense probably damaging 1.00
R1199:Pkd2l2 UTSW 18 34438216 critical splice donor site probably null
R1529:Pkd2l2 UTSW 18 34430702 missense probably damaging 1.00
R1579:Pkd2l2 UTSW 18 34427393 missense possibly damaging 0.49
R2229:Pkd2l2 UTSW 18 34430329 missense probably damaging 1.00
R3695:Pkd2l2 UTSW 18 34438790 missense possibly damaging 0.48
R4058:Pkd2l2 UTSW 18 34428192 missense probably benign 0.22
R4600:Pkd2l2 UTSW 18 34438201 missense probably benign 0.03
R4651:Pkd2l2 UTSW 18 34409836 nonsense probably null
R4652:Pkd2l2 UTSW 18 34409836 nonsense probably null
R5114:Pkd2l2 UTSW 18 34433302 missense probably benign
R5341:Pkd2l2 UTSW 18 34409934 intron probably null
R5686:Pkd2l2 UTSW 18 34425237 missense probably damaging 1.00
R5920:Pkd2l2 UTSW 18 34430773 missense probably benign
R6061:Pkd2l2 UTSW 18 34430689 missense probably damaging 1.00
R6167:Pkd2l2 UTSW 18 34428244 missense probably damaging 1.00
R6217:Pkd2l2 UTSW 18 34414680 missense probably benign 0.03
R6293:Pkd2l2 UTSW 18 34427444 missense probably damaging 1.00
R6572:Pkd2l2 UTSW 18 34438771 missense probably damaging 0.99
R6574:Pkd2l2 UTSW 18 34425081 missense probably damaging 1.00
R6723:Pkd2l2 UTSW 18 34438157 missense probably damaging 0.98
R6941:Pkd2l2 UTSW 18 34416883 missense probably benign 0.02
R6958:Pkd2l2 UTSW 18 34409490 nonsense probably null
R7052:Pkd2l2 UTSW 18 34425159 missense possibly damaging 0.90
Posted On2015-04-16