Incidental Mutation 'IGL02174:Pkd2l1'
ID283028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2l1
Ensembl Gene ENSMUSG00000037578
Gene Namepolycystic kidney disease 2-like 1
SynonymsPCL, PKD2L, Pkdl, polycystin-L, TRPP3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02174
Quality Score
Status
Chromosome19
Chromosomal Location44147637-44192442 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44157268 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 172 (T172I)
Ref Sequence ENSEMBL: ENSMUSP00000045675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042026]
Predicted Effect probably benign
Transcript: ENSMUST00000042026
AA Change: T172I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: T172I

DomainStartEndE-ValueType
transmembrane domain 105 127 N/A INTRINSIC
Pfam:PKD_channel 145 567 1.3e-172 PFAM
Pfam:Ion_trans 335 572 1.8e-30 PFAM
low complexity region 592 598 N/A INTRINSIC
SCOP:d2pvba_ 616 676 2e-4 SMART
PDB:4GIF|A 698 739 1e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161357
Coding Region Coverage
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 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,500,742 I1199V probably damaging Het
Adgrv1 G A 13: 81,427,664 T4861I probably benign Het
Ampd2 T C 3: 108,080,285 D108G probably damaging Het
Azin1 A G 15: 38,493,486 F298L probably benign Het
Bag1 T A 4: 40,941,555 E123D possibly damaging Het
Cabs1 A G 5: 87,980,480 E330G probably benign Het
Ccdc33 T C 9: 58,033,655 K435E probably benign Het
Clip2 T G 5: 134,494,264 K943T probably damaging Het
Cmya5 T C 13: 93,048,907 I3527V possibly damaging Het
Cyp2w1 C T 5: 139,355,629 R244C probably benign Het
Dcaf13 C A 15: 39,138,149 A284E probably damaging Het
Ddx31 T A 2: 28,859,029 L279Q probably damaging Het
Dgki A G 6: 37,032,921 L497P probably damaging Het
Dnah12 A T 14: 26,706,917 I233F probably benign Het
Dpp6 G T 5: 27,721,087 G720* probably null Het
E430018J23Rik G A 7: 127,392,353 T154I possibly damaging Het
Emc1 T C 4: 139,371,668 Y821H possibly damaging Het
Esr1 C T 10: 4,998,003 R519W probably damaging Het
Gamt A T 10: 80,258,396 V227E possibly damaging Het
Habp2 A G 19: 56,311,737 Q206R probably damaging Het
Ihh A G 1: 74,950,946 I90T probably damaging Het
Kif20b T C 19: 34,934,458 probably benign Het
Lcp2 T C 11: 34,050,966 probably benign Het
Lyrm2 A G 4: 32,800,649 I29V probably benign Het
Macf1 T C 4: 123,491,794 D1168G probably damaging Het
Mocos T C 18: 24,695,896 S753P probably benign Het
Myo3a A G 2: 22,332,393 E367G probably benign Het
Ndor1 G A 2: 25,249,194 A255V possibly damaging Het
Nfat5 C T 8: 107,339,051 P148S probably damaging Het
Olfr1043 T A 2: 86,162,098 M284L possibly damaging Het
Olfr1226 A T 2: 89,193,368 F222Y probably benign Het
Olfr5 T C 7: 6,480,439 Y239C probably benign Het
Olfr890 A T 9: 38,143,785 T217S possibly damaging Het
Pappa2 C T 1: 158,761,618 C1679Y probably damaging Het
Pcdhb2 T A 18: 37,296,498 I508N probably damaging Het
Pld5 A G 1: 176,274,744 V44A possibly damaging Het
Prss44 T C 9: 110,817,131 W309R probably damaging Het
Rc3h2 A T 2: 37,411,225 N88K probably benign Het
Rspry1 A G 8: 94,633,140 I102M possibly damaging Het
Stab2 A G 10: 86,859,742 probably null Het
Tbx3 C A 5: 119,675,584 Y228* probably null Het
Tcf15 G T 2: 152,144,145 probably benign Het
Tmem41b A G 7: 109,978,796 S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 I223F possibly damaging Het
Tyrp1 G T 4: 80,844,826 G317* probably null Het
Urod T A 4: 116,990,282 probably benign Het
Vwf G T 6: 125,555,395 R52L probably damaging Het
Wnk2 C A 13: 49,057,167 Q232H probably damaging Het
Zbtb10 C A 3: 9,251,812 P228Q probably damaging Het
Other mutations in Pkd2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Pkd2l1 APN 19 44157636 critical splice donor site probably null
IGL00426:Pkd2l1 APN 19 44155605 missense probably benign 0.21
IGL00848:Pkd2l1 APN 19 44192279 utr 5 prime probably benign
IGL01315:Pkd2l1 APN 19 44192196 missense probably benign 0.09
IGL01654:Pkd2l1 APN 19 44154223 missense probably damaging 0.98
IGL01786:Pkd2l1 APN 19 44191442 missense probably damaging 0.96
IGL02648:Pkd2l1 APN 19 44155536 missense possibly damaging 0.72
R0654:Pkd2l1 UTSW 19 44157631 splice site probably null
R0762:Pkd2l1 UTSW 19 44150470 missense probably benign 0.19
R0981:Pkd2l1 UTSW 19 44154422 critical splice donor site probably null
R1114:Pkd2l1 UTSW 19 44191544 splice site probably benign
R1381:Pkd2l1 UTSW 19 44150463 missense probably benign 0.08
R1467:Pkd2l1 UTSW 19 44154209 missense possibly damaging 0.91
R1467:Pkd2l1 UTSW 19 44154209 missense possibly damaging 0.91
R1754:Pkd2l1 UTSW 19 44155601 nonsense probably null
R2009:Pkd2l1 UTSW 19 44155964 missense probably benign 0.01
R2125:Pkd2l1 UTSW 19 44154500 missense possibly damaging 0.91
R2696:Pkd2l1 UTSW 19 44157269 missense probably benign 0.01
R3001:Pkd2l1 UTSW 19 44155557 missense possibly damaging 0.81
R3002:Pkd2l1 UTSW 19 44155557 missense possibly damaging 0.81
R3701:Pkd2l1 UTSW 19 44157227 missense probably damaging 0.99
R4179:Pkd2l1 UTSW 19 44192181 missense probably benign 0.01
R4180:Pkd2l1 UTSW 19 44192181 missense probably benign 0.01
R4614:Pkd2l1 UTSW 19 44154134 missense probably damaging 0.99
R4616:Pkd2l1 UTSW 19 44154134 missense probably damaging 0.99
R4617:Pkd2l1 UTSW 19 44154134 missense probably damaging 0.99
R4618:Pkd2l1 UTSW 19 44154134 missense probably damaging 0.99
R4762:Pkd2l1 UTSW 19 44155621 missense probably benign 0.09
R4893:Pkd2l1 UTSW 19 44153771 missense probably benign 0.00
R4907:Pkd2l1 UTSW 19 44154142 missense possibly damaging 0.95
R5004:Pkd2l1 UTSW 19 44149577 missense probably benign 0.00
R5380:Pkd2l1 UTSW 19 44157732 missense probably benign 0.33
R5480:Pkd2l1 UTSW 19 44192156 missense probably benign 0.18
R5950:Pkd2l1 UTSW 19 44152090 missense probably benign 0.27
R6248:Pkd2l1 UTSW 19 44157669 missense probably benign 0.00
R6908:Pkd2l1 UTSW 19 44152446 missense probably damaging 1.00
R6925:Pkd2l1 UTSW 19 44191508 missense possibly damaging 0.92
R7021:Pkd2l1 UTSW 19 44154208 missense probably damaging 0.98
R7322:Pkd2l1 UTSW 19 44157690 missense probably benign 0.00
R7378:Pkd2l1 UTSW 19 44153715 missense probably benign 0.05
R7442:Pkd2l1 UTSW 19 44157229 missense probably benign 0.01
X0026:Pkd2l1 UTSW 19 44157182 missense probably damaging 1.00
Posted On2015-04-16