Incidental Mutation 'R1381:Pkd2l1'
ID 163070
Institutional Source Beutler Lab
Gene Symbol Pkd2l1
Ensembl Gene ENSMUSG00000037578
Gene Name polycystic kidney disease 2-like 1
Synonyms PKD2L, polycystin-L, PCL, TRPP3, Pkdl
MMRRC Submission 039443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1381 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44136076-44180881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44138902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 649 (I649M)
Ref Sequence ENSEMBL: ENSMUSP00000045675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042026] [ENSMUST00000079033]
AlphaFold A2A259
Predicted Effect probably benign
Transcript: ENSMUST00000042026
AA Change: I649M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: I649M

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 probably benign
Transcript: ENSMUST00000079033
SMART Domains Protein: ENSMUSP00000078042
Gene: ENSMUSG00000057506

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Pfam:BLOC1_2 43 138 6.9e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161357
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,561,430 (GRCm39) F252L probably benign Het
Aadac A T 3: 59,947,351 (GRCm39) M350L probably damaging Het
Agtrap G A 4: 148,168,422 (GRCm39) T19I probably damaging Het
Apba3 C T 10: 81,107,590 (GRCm39) T142M possibly damaging Het
Cd55b T A 1: 130,347,412 (GRCm39) K133I probably damaging Het
Cep295 A C 9: 15,233,861 (GRCm39) C2312G probably benign Het
Ces1a A G 8: 93,760,659 (GRCm39) V231A probably damaging Het
Chdh C A 14: 29,758,791 (GRCm39) L579I probably damaging Het
Cyb5r4 T A 9: 86,904,286 (GRCm39) S19T probably benign Het
Cyp2d22 C A 15: 82,256,709 (GRCm39) R355L probably benign Het
Dach2 T C X: 112,208,472 (GRCm39) Y117H probably damaging Het
Dennd4c G A 4: 86,692,769 (GRCm39) R93K probably benign Het
Dph2 G T 4: 117,746,865 (GRCm39) L452I probably damaging Het
Exoc6b T C 6: 84,812,099 (GRCm39) D634G probably benign Het
Fam217b G A 2: 178,062,218 (GRCm39) V61I probably benign Het
Fbln7 A C 2: 128,719,299 (GRCm39) Q32P probably damaging Het
Fgfr1op2 A G 6: 146,490,239 (GRCm39) Y46C probably damaging Het
Fhod3 T A 18: 25,223,528 (GRCm39) I958N probably damaging Het
Foxp2 T A 6: 15,409,765 (GRCm39) M455K possibly damaging Het
Gabrr2 G A 4: 33,081,420 (GRCm39) G152D probably damaging Het
Galntl6 G T 8: 58,925,989 (GRCm39) P92Q probably damaging Het
Gm5592 A T 7: 40,935,596 (GRCm39) T33S probably benign Het
Grid2ip A T 5: 143,348,406 (GRCm39) T166S probably benign Het
Grsf1 G A 5: 88,813,723 (GRCm39) S225L probably benign Het
Hadha G T 5: 30,333,834 (GRCm39) T395K probably benign Het
Hars2 C T 18: 36,922,270 (GRCm39) A295V possibly damaging Het
Hsf5 T A 11: 87,528,995 (GRCm39) S577T probably benign Het
Ice2 A G 9: 69,307,809 (GRCm39) Y31C probably damaging Het
Ift80 A T 3: 68,822,116 (GRCm39) I643N possibly damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Ilvbl C A 10: 78,412,430 (GRCm39) S50R probably damaging Het
Invs C A 4: 48,421,942 (GRCm39) S858* probably null Het
Ipo13 T G 4: 117,761,592 (GRCm39) T508P probably damaging Het
Itgb4 T C 11: 115,885,163 (GRCm39) I1015T probably benign Het
Kank4 A T 4: 98,668,175 (GRCm39) W91R probably damaging Het
Kansl1l C T 1: 66,760,063 (GRCm39) A906T probably benign Het
Klk4 G A 7: 43,534,706 (GRCm39) V222M probably damaging Het
Lipo4 T A 19: 33,476,741 (GRCm39) M336L probably benign Het
Lrig1 T C 6: 94,583,111 (GRCm39) N1002D probably benign Het
Lzts3 A G 2: 130,477,219 (GRCm39) S524P probably damaging Het
Maz A T 7: 126,622,324 (GRCm39) C409* probably null Het
Mmp24 A T 2: 155,656,047 (GRCm39) Q495L possibly damaging Het
Mrgpra9 C T 7: 46,885,050 (GRCm39) V206I possibly damaging Het
Myof A G 19: 37,983,933 (GRCm39) Y124H probably damaging Het
Nalcn A T 14: 123,551,517 (GRCm39) V1030D probably damaging Het
Neb T A 2: 52,150,544 (GRCm39) I2495F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nup153 T C 13: 46,842,657 (GRCm39) D837G probably damaging Het
Nup210 C A 6: 91,052,942 (GRCm39) G331V probably damaging Het
Or5b97 T C 19: 12,878,320 (GRCm39) T275A probably benign Het
Or5w18 T C 2: 87,633,480 (GRCm39) L245P probably damaging Het
Or6z7 A G 7: 6,484,008 (GRCm39) probably null Het
Or8b56 T A 9: 38,739,634 (GRCm39) S210T probably benign Het
Pabpc4 T A 4: 123,182,852 (GRCm39) L163H probably damaging Het
Pcdh7 T A 5: 57,878,882 (GRCm39) Y126* probably null Het
Pdzd2 A G 15: 12,385,525 (GRCm39) S1082P probably benign Het
Plcl2 G A 17: 50,914,757 (GRCm39) E589K probably damaging Het
Plppr1 C A 4: 49,337,674 (GRCm39) T325N possibly damaging Het
Prss8 GCTGCCCAAGTCCC GC 7: 127,529,021 (GRCm39) probably benign Het
Ptcd2 A G 13: 99,481,105 (GRCm39) S25P probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rusc2 T A 4: 43,416,137 (GRCm39) V481E probably damaging Het
Sephs2 G T 7: 126,872,139 (GRCm39) T318K probably damaging Het
Sf3b1 T A 1: 55,042,313 (GRCm39) I497L probably damaging Het
Slc30a7 C T 3: 115,750,519 (GRCm39) probably null Het
Slc66a2 T G 18: 80,326,529 (GRCm39) S126A probably benign Het
Smarca2 T C 19: 26,608,228 (GRCm39) S96P probably damaging Het
Spata31d1c A C 13: 65,184,368 (GRCm39) I637L probably benign Het
Ston2 A T 12: 91,707,266 (GRCm39) S115T probably damaging Het
Tal2 A C 4: 53,785,999 (GRCm39) E60A probably benign Het
Tdpoz3 A T 3: 93,733,447 (GRCm39) T41S probably benign Het
Tent4b T A 8: 88,969,937 (GRCm39) M203K possibly damaging Het
Tespa1 T C 10: 130,196,560 (GRCm39) I166T probably benign Het
Thsd7a A T 6: 12,555,438 (GRCm39) C149S probably damaging Het
Trav6-1 T A 14: 52,875,967 (GRCm39) probably benign Het
Txnl4a T C 18: 80,250,479 (GRCm39) V25A probably benign Het
Utp4 C A 8: 107,632,908 (GRCm39) P297Q probably benign Het
Vmn1r34 T C 6: 66,613,922 (GRCm39) Y272C probably damaging Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Vmn2r121 C A X: 123,037,837 (GRCm39) G728W probably damaging Het
Vmn2r24 T A 6: 123,763,692 (GRCm39) S190T probably damaging Het
Zfp507 A G 7: 35,475,435 (GRCm39) V926A possibly damaging Het
Other mutations in Pkd2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Pkd2l1 APN 19 44,146,075 (GRCm39) critical splice donor site probably null
IGL00426:Pkd2l1 APN 19 44,144,044 (GRCm39) missense probably benign 0.21
IGL00848:Pkd2l1 APN 19 44,180,718 (GRCm39) utr 5 prime probably benign
IGL01315:Pkd2l1 APN 19 44,180,635 (GRCm39) missense probably benign 0.09
IGL01654:Pkd2l1 APN 19 44,142,662 (GRCm39) missense probably damaging 0.98
IGL01786:Pkd2l1 APN 19 44,179,881 (GRCm39) missense probably damaging 0.96
IGL02174:Pkd2l1 APN 19 44,145,707 (GRCm39) missense probably benign 0.04
IGL02648:Pkd2l1 APN 19 44,143,975 (GRCm39) missense possibly damaging 0.72
R0654:Pkd2l1 UTSW 19 44,146,070 (GRCm39) splice site probably null
R0762:Pkd2l1 UTSW 19 44,138,909 (GRCm39) missense probably benign 0.19
R0981:Pkd2l1 UTSW 19 44,142,861 (GRCm39) critical splice donor site probably null
R1114:Pkd2l1 UTSW 19 44,179,983 (GRCm39) splice site probably benign
R1467:Pkd2l1 UTSW 19 44,142,648 (GRCm39) missense possibly damaging 0.91
R1467:Pkd2l1 UTSW 19 44,142,648 (GRCm39) missense possibly damaging 0.91
R1754:Pkd2l1 UTSW 19 44,144,040 (GRCm39) nonsense probably null
R2009:Pkd2l1 UTSW 19 44,144,403 (GRCm39) missense probably benign 0.01
R2125:Pkd2l1 UTSW 19 44,142,939 (GRCm39) missense possibly damaging 0.91
R2696:Pkd2l1 UTSW 19 44,145,708 (GRCm39) missense probably benign 0.01
R3001:Pkd2l1 UTSW 19 44,143,996 (GRCm39) missense possibly damaging 0.81
R3002:Pkd2l1 UTSW 19 44,143,996 (GRCm39) missense possibly damaging 0.81
R3701:Pkd2l1 UTSW 19 44,145,666 (GRCm39) missense probably damaging 0.99
R4179:Pkd2l1 UTSW 19 44,180,620 (GRCm39) missense probably benign 0.01
R4180:Pkd2l1 UTSW 19 44,180,620 (GRCm39) missense probably benign 0.01
R4614:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4616:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4617:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4618:Pkd2l1 UTSW 19 44,142,573 (GRCm39) missense probably damaging 0.99
R4762:Pkd2l1 UTSW 19 44,144,060 (GRCm39) missense probably benign 0.09
R4893:Pkd2l1 UTSW 19 44,142,210 (GRCm39) missense probably benign 0.00
R4907:Pkd2l1 UTSW 19 44,142,581 (GRCm39) missense possibly damaging 0.95
R5004:Pkd2l1 UTSW 19 44,138,016 (GRCm39) missense probably benign 0.00
R5380:Pkd2l1 UTSW 19 44,146,171 (GRCm39) missense probably benign 0.33
R5480:Pkd2l1 UTSW 19 44,180,595 (GRCm39) missense probably benign 0.18
R5950:Pkd2l1 UTSW 19 44,140,529 (GRCm39) missense probably benign 0.27
R6248:Pkd2l1 UTSW 19 44,146,108 (GRCm39) missense probably benign 0.00
R6908:Pkd2l1 UTSW 19 44,140,885 (GRCm39) missense probably damaging 1.00
R6925:Pkd2l1 UTSW 19 44,179,947 (GRCm39) missense possibly damaging 0.92
R7021:Pkd2l1 UTSW 19 44,142,647 (GRCm39) missense probably damaging 0.98
R7322:Pkd2l1 UTSW 19 44,146,129 (GRCm39) missense probably benign 0.00
R7378:Pkd2l1 UTSW 19 44,142,154 (GRCm39) missense probably benign 0.05
R7442:Pkd2l1 UTSW 19 44,145,668 (GRCm39) missense probably benign 0.01
R7636:Pkd2l1 UTSW 19 44,179,870 (GRCm39) missense possibly damaging 0.70
R7954:Pkd2l1 UTSW 19 44,142,651 (GRCm39) missense probably benign 0.15
R7989:Pkd2l1 UTSW 19 44,142,507 (GRCm39) missense probably benign 0.10
R9007:Pkd2l1 UTSW 19 44,140,864 (GRCm39) missense possibly damaging 0.49
R9245:Pkd2l1 UTSW 19 44,143,894 (GRCm39) missense probably benign 0.33
R9675:Pkd2l1 UTSW 19 44,137,696 (GRCm39) missense probably benign 0.00
X0026:Pkd2l1 UTSW 19 44,145,621 (GRCm39) missense probably damaging 1.00
Z1176:Pkd2l1 UTSW 19 44,137,710 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTCATTTGTGGGAGGACATTCAGC -3'
(R):5'- GGCATCTGGTTATTCAGGGGCAAAG -3'

Sequencing Primer
(F):5'- ACATTCAGCTTGGATTTGGC -3'
(R):5'- GATCCTGAAGTTCTAACATAGCCAG -3'
Posted On 2014-03-17