Incidental Mutation 'R1754:Pkd2l1'
ID 193900
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 039786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44136076-44180881 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44144040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 344 (Y344*)
Ref Sequence ENSEMBL: ENSMUSP00000045675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042026]
AlphaFold A2A259
Predicted Effect probably null
Transcript: ENSMUST00000042026
AA Change: Y344*
SMART Domains Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: Y344*

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
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,324,345 (GRCm39) L234M probably benign Het
Abca3 G A 17: 24,596,753 (GRCm39) S402N probably benign Het
Acad12 A T 5: 121,745,544 (GRCm39) V249D probably benign Het
Acp4 T C 7: 43,904,428 (GRCm39) I212V probably benign Het
Actl6a T A 3: 32,772,723 (GRCm39) V233D probably damaging Het
Aire T A 10: 77,866,124 (GRCm39) Q533L probably damaging Het
Aldh3b3 T C 19: 4,018,517 (GRCm39) S411P probably benign Het
Amer2 A G 14: 60,617,206 (GRCm39) K467R probably damaging Het
Apol9b A T 15: 77,619,962 (GRCm39) I253F probably benign Het
Arid1b A G 17: 5,329,476 (GRCm39) probably null Het
Atp6v0a4 T C 6: 38,044,764 (GRCm39) T494A probably benign Het
Atp6v1b2 A G 8: 69,554,613 (GRCm39) D106G probably benign Het
Avpr1b T C 1: 131,527,839 (GRCm39) S121P probably damaging Het
Bcl11a A C 11: 24,114,724 (GRCm39) E689A probably damaging Het
Brpf3 T G 17: 29,040,297 (GRCm39) L906R probably benign Het
Btn1a1 T C 13: 23,644,638 (GRCm39) K287E probably benign Het
Cacna1i A G 15: 80,255,730 (GRCm39) H871R probably damaging Het
Cd14 A T 18: 36,858,567 (GRCm39) L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Colgalt1 G T 8: 72,075,823 (GRCm39) W490L probably damaging Het
Ctnna2 A G 6: 77,613,732 (GRCm39) I273T possibly damaging Het
Dnah7a A T 1: 53,543,344 (GRCm39) D2275E probably benign Het
Dnah7a A C 1: 53,601,059 (GRCm39) probably null Het
Egfem1 T C 3: 29,722,482 (GRCm39) Y404H possibly damaging Het
Esm1 A T 13: 113,353,230 (GRCm39) N171Y probably damaging Het
Exoc1 T G 5: 76,708,169 (GRCm39) probably null Het
Fam243 A G 16: 92,117,919 (GRCm39) V123A probably damaging Het
Fcho1 A G 8: 72,163,890 (GRCm39) I580T probably benign Het
Fgfr1 A G 8: 26,060,226 (GRCm39) H552R probably damaging Het
Fsbp A G 4: 11,583,906 (GRCm39) R202G probably damaging Het
Gabra6 A G 11: 42,207,388 (GRCm39) V231A probably damaging Het
Gmeb1 A G 4: 131,959,338 (GRCm39) S239P probably benign Het
Gnpat T A 8: 125,603,745 (GRCm39) Y208N probably damaging Het
Il21 T C 3: 37,279,674 (GRCm39) K114R possibly damaging Het
Inhbc T C 10: 127,206,162 (GRCm39) D35G possibly damaging Het
Inpp4b A T 8: 82,497,440 (GRCm39) T87S probably damaging Het
Kcns2 T C 15: 34,839,663 (GRCm39) I342T possibly damaging Het
Ky A T 9: 102,419,126 (GRCm39) T378S possibly damaging Het
Lcat CAT C 8: 106,668,446 (GRCm39) probably null Het
Lrrc8d T C 5: 105,960,523 (GRCm39) V311A probably benign Het
Mief1 A G 15: 80,133,803 (GRCm39) I287V probably damaging Het
Mrpl47 A G 3: 32,784,233 (GRCm39) V179A probably benign Het
Mtcl1 T C 17: 66,687,178 (GRCm39) K576R probably damaging Het
Myh10 C A 11: 68,703,884 (GRCm39) A1902E probably damaging Het
Nlrp3 A G 11: 59,449,228 (GRCm39) T837A possibly damaging Het
Nr1i3 T C 1: 171,044,963 (GRCm39) Y132H probably damaging Het
Oit3 T C 10: 59,263,762 (GRCm39) probably null Het
Or12j4 A T 7: 140,046,773 (GRCm39) I220F probably damaging Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4c100 A T 2: 88,356,159 (GRCm39) R77S probably damaging Het
Or5b113 T C 19: 13,342,717 (GRCm39) S242P probably damaging Het
Or5h25 T A 16: 58,930,944 (GRCm39) I10F probably benign Het
Or6k14 A G 1: 173,927,599 (GRCm39) T192A probably benign Het
Or7a42 T A 10: 78,791,531 (GRCm39) V164E probably damaging Het
Or9k2 G A 10: 129,999,033 (GRCm39) T54I probably benign Het
Pdlim4 T C 11: 53,946,699 (GRCm39) E196G possibly damaging Het
Pigs A G 11: 78,228,673 (GRCm39) Y293C probably damaging Het
Pkd1l2 A T 8: 117,757,458 (GRCm39) S1527T possibly damaging Het
Pmp2 T C 3: 10,247,284 (GRCm39) probably null Het
Polr3e T C 7: 120,538,521 (GRCm39) probably null Het
Ppp3ca C G 3: 136,587,209 (GRCm39) I230M probably benign Het
Ppp5c T C 7: 16,739,235 (GRCm39) H463R probably benign Het
Ptger1 A G 8: 84,395,926 (GRCm39) N328D probably benign Het
Rhno1 A T 6: 128,334,822 (GRCm39) I167N probably benign Het
Rictor C A 15: 6,764,849 (GRCm39) P34H probably damaging Het
Rnf10 A C 5: 115,383,924 (GRCm39) S630R probably damaging Het
Rnf168 A G 16: 32,117,942 (GRCm39) Q501R probably benign Het
Rngtt T G 4: 33,329,634 (GRCm39) probably null Het
Samd9l G T 6: 3,373,126 (GRCm39) F1378L probably damaging Het
Slc9c1 T A 16: 45,409,872 (GRCm39) M864K probably benign Het
Slitrk5 T C 14: 111,917,951 (GRCm39) F525S probably damaging Het
Sox6 T C 7: 115,076,290 (GRCm39) M784V probably benign Het
Spata31e4 A T 13: 50,855,123 (GRCm39) T254S probably damaging Het
Spint2 C T 7: 28,959,791 (GRCm39) probably null Het
Ssh1 A T 5: 114,093,906 (GRCm39) I276N probably damaging Het
Trank1 T A 9: 111,221,939 (GRCm39) V2892D probably benign Het
Ttn C A 2: 76,581,384 (GRCm39) E21424* probably null Het
Usp17lc T C 7: 103,068,055 (GRCm39) I450T probably benign Het
Vcan A G 13: 89,852,854 (GRCm39) V702A probably benign Het
Vmn1r36 TA TAA 6: 66,693,517 (GRCm39) probably null Het
Vmn2r51 G T 7: 9,833,873 (GRCm39) D388E probably benign Het
Zfp106 A C 2: 120,364,245 (GRCm39) S721A probably damaging Het
Zfp106 G A 2: 120,364,244 (GRCm39) S721L probably damaging Het
Zfp189 T A 4: 49,529,342 (GRCm39) H148Q possibly damaging Het
Zfp352 A T 4: 90,112,046 (GRCm39) Y62F probably benign Het
Zfp839 T C 12: 110,821,891 (GRCm39) V235A probably damaging Het
Zfp871 T C 17: 32,994,308 (GRCm39) Y289C probably 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
R1381:Pkd2l1 UTSW 19 44,138,902 (GRCm39) missense probably benign 0.08
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
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'- AAAGCAGAGTCCCTCCAGTATGCC -3'
(R):5'- CGACTTCTCCGTCTACAATGCCAAC -3'

Sequencing Primer
(F):5'- CCAGTATGCCCCACGTC -3'
(R):5'- TGTATTCTGAGGTAAGCACCC -3'
Posted On 2014-05-23