Incidental Mutation 'IGL01981:Pkd1l2'
ID 183508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd1l2
Ensembl Gene ENSMUSG00000034416
Gene Name polycystic kidney disease 1 like 2
Synonyms 1700126L06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01981
Quality Score
Status
Chromosome 8
Chromosomal Location 117722418-117809188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117743655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1978 (R1978L)
Ref Sequence ENSEMBL: ENSMUSP00000104721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098375] [ENSMUST00000109093]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098375
AA Change: R1977L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: R1977L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CLECT 26 152 1.56e-21 SMART
Pfam:Gal_Lectin 168 250 1.8e-18 PFAM
PKD 260 341 3.84e-1 SMART
low complexity region 496 507 N/A INTRINSIC
Pfam:REJ 510 886 1.8e-13 PFAM
low complexity region 1050 1060 N/A INTRINSIC
GPS 1278 1327 1.61e-11 SMART
transmembrane domain 1346 1365 N/A INTRINSIC
LH2 1390 1509 6.05e-13 SMART
transmembrane domain 1552 1574 N/A INTRINSIC
transmembrane domain 1589 1611 N/A INTRINSIC
transmembrane domain 1815 1837 N/A INTRINSIC
transmembrane domain 1852 1874 N/A INTRINSIC
transmembrane domain 1940 1962 N/A INTRINSIC
Pfam:PKD_channel 1980 2403 6.4e-107 PFAM
Pfam:Ion_trans 2187 2396 2.5e-12 PFAM
low complexity region 2441 2458 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109093
AA Change: R1978L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: R1978L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CLECT 26 152 1.56e-21 SMART
Pfam:Gal_Lectin 168 250 6.9e-19 PFAM
PKD 260 341 3.84e-1 SMART
low complexity region 496 507 N/A INTRINSIC
Pfam:REJ 519 883 7e-11 PFAM
low complexity region 1051 1061 N/A INTRINSIC
GPS 1279 1328 1.61e-11 SMART
transmembrane domain 1347 1366 N/A INTRINSIC
LH2 1391 1510 6.05e-13 SMART
transmembrane domain 1553 1575 N/A INTRINSIC
transmembrane domain 1590 1612 N/A INTRINSIC
transmembrane domain 1816 1838 N/A INTRINSIC
transmembrane domain 1853 1875 N/A INTRINSIC
transmembrane domain 1941 1963 N/A INTRINSIC
Pfam:PKD_channel 1981 2403 5.9e-106 PFAM
Pfam:Ion_trans 2138 2409 3.4e-12 PFAM
low complexity region 2442 2459 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162080
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 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Pkd1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Pkd1l2 APN 8 117,786,259 (GRCm39) nonsense probably null
IGL01353:Pkd1l2 APN 8 117,784,182 (GRCm39) missense probably benign 0.24
IGL01362:Pkd1l2 APN 8 117,748,595 (GRCm39) missense probably damaging 1.00
IGL01486:Pkd1l2 APN 8 117,786,331 (GRCm39) missense probably benign
IGL01672:Pkd1l2 APN 8 117,807,471 (GRCm39) missense possibly damaging 0.94
IGL01696:Pkd1l2 APN 8 117,783,126 (GRCm39) missense probably benign 0.12
IGL01819:Pkd1l2 APN 8 117,724,913 (GRCm39) missense probably damaging 1.00
IGL01833:Pkd1l2 APN 8 117,787,264 (GRCm39) missense probably benign 0.00
IGL02066:Pkd1l2 APN 8 117,736,303 (GRCm39) splice site probably benign
IGL02381:Pkd1l2 APN 8 117,762,539 (GRCm39) splice site probably benign
IGL02416:Pkd1l2 APN 8 117,767,574 (GRCm39) missense possibly damaging 0.82
IGL02736:Pkd1l2 APN 8 117,767,405 (GRCm39) missense probably benign 0.00
IGL02828:Pkd1l2 APN 8 117,756,298 (GRCm39) missense probably benign
IGL02861:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02862:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02883:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02884:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02894:Pkd1l2 APN 8 117,740,630 (GRCm39) missense probably damaging 0.97
IGL02900:Pkd1l2 APN 8 117,750,830 (GRCm39) missense probably benign 0.03
IGL02901:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02929:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02941:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02957:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL02969:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03028:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03059:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03065:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03066:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03083:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03084:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03124:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03162:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03165:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03335:Pkd1l2 APN 8 117,792,484 (GRCm39) missense probably benign 0.07
IGL03357:Pkd1l2 APN 8 117,722,548 (GRCm39) missense probably damaging 1.00
IGL02835:Pkd1l2 UTSW 8 117,792,484 (GRCm39) missense probably benign 0.07
PIT4453001:Pkd1l2 UTSW 8 117,748,761 (GRCm39) missense probably benign 0.00
R0127:Pkd1l2 UTSW 8 117,776,787 (GRCm39) splice site probably benign
R0309:Pkd1l2 UTSW 8 117,724,315 (GRCm39) missense probably damaging 0.99
R0365:Pkd1l2 UTSW 8 117,748,589 (GRCm39) missense probably benign 0.02
R0526:Pkd1l2 UTSW 8 117,808,999 (GRCm39) missense probably damaging 1.00
R0571:Pkd1l2 UTSW 8 117,808,957 (GRCm39) missense probably benign 0.01
R0716:Pkd1l2 UTSW 8 117,777,839 (GRCm39) missense probably damaging 1.00
R0787:Pkd1l2 UTSW 8 117,802,916 (GRCm39) missense possibly damaging 0.90
R0893:Pkd1l2 UTSW 8 117,771,231 (GRCm39) missense probably damaging 0.99
R1256:Pkd1l2 UTSW 8 117,746,282 (GRCm39) critical splice acceptor site probably null
R1391:Pkd1l2 UTSW 8 117,781,673 (GRCm39) missense possibly damaging 0.87
R1474:Pkd1l2 UTSW 8 117,792,236 (GRCm39) splice site probably benign
R1491:Pkd1l2 UTSW 8 117,755,147 (GRCm39) missense probably damaging 1.00
R1520:Pkd1l2 UTSW 8 117,772,898 (GRCm39) missense probably benign 0.00
R1521:Pkd1l2 UTSW 8 117,792,239 (GRCm39) splice site probably null
R1544:Pkd1l2 UTSW 8 117,764,974 (GRCm39) frame shift probably null
R1558:Pkd1l2 UTSW 8 117,808,991 (GRCm39) missense possibly damaging 0.94
R1673:Pkd1l2 UTSW 8 117,767,514 (GRCm39) missense probably benign 0.00
R1691:Pkd1l2 UTSW 8 117,783,158 (GRCm39) missense possibly damaging 0.60
R1754:Pkd1l2 UTSW 8 117,757,458 (GRCm39) missense possibly damaging 0.81
R1857:Pkd1l2 UTSW 8 117,767,408 (GRCm39) missense possibly damaging 0.70
R1939:Pkd1l2 UTSW 8 117,772,921 (GRCm39) nonsense probably null
R1955:Pkd1l2 UTSW 8 117,770,100 (GRCm39) missense probably benign
R1957:Pkd1l2 UTSW 8 117,757,421 (GRCm39) missense probably damaging 1.00
R1959:Pkd1l2 UTSW 8 117,769,970 (GRCm39) critical splice donor site probably null
R2024:Pkd1l2 UTSW 8 117,746,272 (GRCm39) missense probably benign
R2046:Pkd1l2 UTSW 8 117,726,694 (GRCm39) missense probably damaging 1.00
R2102:Pkd1l2 UTSW 8 117,808,208 (GRCm39) missense probably damaging 0.98
R2116:Pkd1l2 UTSW 8 117,757,461 (GRCm39) missense possibly damaging 0.93
R2148:Pkd1l2 UTSW 8 117,783,064 (GRCm39) missense probably damaging 0.98
R2251:Pkd1l2 UTSW 8 117,784,177 (GRCm39) missense probably damaging 1.00
R2252:Pkd1l2 UTSW 8 117,784,177 (GRCm39) missense probably damaging 1.00
R2366:Pkd1l2 UTSW 8 117,770,056 (GRCm39) missense probably benign 0.01
R2566:Pkd1l2 UTSW 8 117,746,233 (GRCm39) missense probably damaging 1.00
R2872:Pkd1l2 UTSW 8 117,764,903 (GRCm39) missense probably benign 0.10
R2872:Pkd1l2 UTSW 8 117,764,903 (GRCm39) missense probably benign 0.10
R2985:Pkd1l2 UTSW 8 117,792,290 (GRCm39) missense probably benign 0.00
R3055:Pkd1l2 UTSW 8 117,795,054 (GRCm39) critical splice acceptor site probably null
R3436:Pkd1l2 UTSW 8 117,767,478 (GRCm39) missense probably benign 0.01
R4732:Pkd1l2 UTSW 8 117,722,581 (GRCm39) critical splice acceptor site probably null
R4733:Pkd1l2 UTSW 8 117,722,581 (GRCm39) critical splice acceptor site probably null
R4763:Pkd1l2 UTSW 8 117,746,168 (GRCm39) missense probably damaging 0.96
R4789:Pkd1l2 UTSW 8 117,738,314 (GRCm39) missense probably damaging 0.99
R4921:Pkd1l2 UTSW 8 117,781,624 (GRCm39) missense probably benign 0.03
R4921:Pkd1l2 UTSW 8 117,799,288 (GRCm39) missense probably damaging 0.97
R4999:Pkd1l2 UTSW 8 117,774,113 (GRCm39) splice site probably null
R5057:Pkd1l2 UTSW 8 117,781,747 (GRCm39) missense probably benign 0.21
R5209:Pkd1l2 UTSW 8 117,783,181 (GRCm39) missense probably benign 0.23
R5241:Pkd1l2 UTSW 8 117,761,857 (GRCm39) missense probably damaging 1.00
R5480:Pkd1l2 UTSW 8 117,757,388 (GRCm39) missense probably damaging 0.99
R5501:Pkd1l2 UTSW 8 117,792,569 (GRCm39) missense probably damaging 0.98
R5533:Pkd1l2 UTSW 8 117,794,855 (GRCm39) missense probably benign 0.03
R5582:Pkd1l2 UTSW 8 117,767,522 (GRCm39) nonsense probably null
R5610:Pkd1l2 UTSW 8 117,769,059 (GRCm39) missense probably benign 0.04
R5770:Pkd1l2 UTSW 8 117,781,757 (GRCm39) missense probably damaging 1.00
R5854:Pkd1l2 UTSW 8 117,792,485 (GRCm39) missense possibly damaging 0.48
R5867:Pkd1l2 UTSW 8 117,781,750 (GRCm39) missense probably damaging 0.96
R5881:Pkd1l2 UTSW 8 117,724,321 (GRCm39) missense probably damaging 0.99
R5906:Pkd1l2 UTSW 8 117,756,387 (GRCm39) missense probably damaging 1.00
R5909:Pkd1l2 UTSW 8 117,750,795 (GRCm39) missense probably benign 0.00
R6030:Pkd1l2 UTSW 8 117,769,976 (GRCm39) missense probably damaging 1.00
R6030:Pkd1l2 UTSW 8 117,769,976 (GRCm39) missense probably damaging 1.00
R6084:Pkd1l2 UTSW 8 117,740,726 (GRCm39) missense probably damaging 1.00
R6122:Pkd1l2 UTSW 8 117,809,107 (GRCm39) missense probably benign 0.02
R6216:Pkd1l2 UTSW 8 117,808,209 (GRCm39) missense probably damaging 1.00
R6406:Pkd1l2 UTSW 8 117,762,586 (GRCm39) missense probably damaging 0.99
R6417:Pkd1l2 UTSW 8 117,740,638 (GRCm39) missense probably damaging 1.00
R6420:Pkd1l2 UTSW 8 117,740,638 (GRCm39) missense probably damaging 1.00
R6601:Pkd1l2 UTSW 8 117,767,405 (GRCm39) missense probably benign 0.00
R6743:Pkd1l2 UTSW 8 117,757,370 (GRCm39) missense probably damaging 1.00
R7053:Pkd1l2 UTSW 8 117,740,681 (GRCm39) missense probably damaging 1.00
R7144:Pkd1l2 UTSW 8 117,802,870 (GRCm39) nonsense probably null
R7148:Pkd1l2 UTSW 8 117,807,525 (GRCm39) missense probably benign 0.00
R7169:Pkd1l2 UTSW 8 117,767,574 (GRCm39) missense possibly damaging 0.82
R7217:Pkd1l2 UTSW 8 117,722,536 (GRCm39) missense probably benign 0.24
R7310:Pkd1l2 UTSW 8 117,750,773 (GRCm39) missense probably benign
R7382:Pkd1l2 UTSW 8 117,781,610 (GRCm39) missense possibly damaging 0.95
R7397:Pkd1l2 UTSW 8 117,762,641 (GRCm39) missense possibly damaging 0.94
R7408:Pkd1l2 UTSW 8 117,755,218 (GRCm39) missense possibly damaging 0.77
R7437:Pkd1l2 UTSW 8 117,757,421 (GRCm39) missense probably damaging 0.96
R7492:Pkd1l2 UTSW 8 117,794,849 (GRCm39) missense probably damaging 1.00
R7496:Pkd1l2 UTSW 8 117,787,333 (GRCm39) missense possibly damaging 0.89
R7519:Pkd1l2 UTSW 8 117,792,268 (GRCm39) missense probably benign
R7590:Pkd1l2 UTSW 8 117,807,525 (GRCm39) missense probably benign 0.00
R7623:Pkd1l2 UTSW 8 117,756,384 (GRCm39) missense probably damaging 1.00
R7768:Pkd1l2 UTSW 8 117,781,599 (GRCm39) critical splice donor site probably null
R7897:Pkd1l2 UTSW 8 117,724,827 (GRCm39) missense possibly damaging 0.69
R7982:Pkd1l2 UTSW 8 117,777,926 (GRCm39) missense possibly damaging 0.70
R8024:Pkd1l2 UTSW 8 117,802,921 (GRCm39) missense possibly damaging 0.85
R8140:Pkd1l2 UTSW 8 117,774,236 (GRCm39) missense probably benign
R8145:Pkd1l2 UTSW 8 117,781,742 (GRCm39) missense probably benign
R8228:Pkd1l2 UTSW 8 117,792,514 (GRCm39) missense probably damaging 0.97
R8252:Pkd1l2 UTSW 8 117,767,472 (GRCm39) missense probably benign 0.29
R8500:Pkd1l2 UTSW 8 117,774,302 (GRCm39) critical splice acceptor site probably null
R8732:Pkd1l2 UTSW 8 117,792,311 (GRCm39) missense probably benign 0.28
R8809:Pkd1l2 UTSW 8 117,726,660 (GRCm39) missense probably damaging 1.00
R8896:Pkd1l2 UTSW 8 117,740,615 (GRCm39) missense possibly damaging 0.91
R8961:Pkd1l2 UTSW 8 117,726,717 (GRCm39) missense possibly damaging 0.52
R8985:Pkd1l2 UTSW 8 117,764,849 (GRCm39) missense probably benign 0.01
R9008:Pkd1l2 UTSW 8 117,769,037 (GRCm39) missense probably benign 0.32
R9091:Pkd1l2 UTSW 8 117,759,433 (GRCm39) missense probably damaging 1.00
R9138:Pkd1l2 UTSW 8 117,781,748 (GRCm39) missense probably benign 0.43
R9160:Pkd1l2 UTSW 8 117,767,408 (GRCm39) missense possibly damaging 0.70
R9249:Pkd1l2 UTSW 8 117,746,159 (GRCm39) missense probably damaging 0.99
R9270:Pkd1l2 UTSW 8 117,759,433 (GRCm39) missense probably damaging 1.00
R9735:Pkd1l2 UTSW 8 117,772,820 (GRCm39) missense possibly damaging 0.94
Z1176:Pkd1l2 UTSW 8 117,781,653 (GRCm39) missense probably damaging 1.00
Z1177:Pkd1l2 UTSW 8 117,757,430 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07