Incidental Mutation 'IGL03065:Pkd1l2'
ID 409628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd1l2
Ensembl Gene ENSMUSG00000034416
Gene Name polycystic kidney disease 1 like 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03065
Quality Score
Status
Chromosome 8
Chromosomal Location 116995679-117082449 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117065745 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 436 (T436I)
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: T436I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: T436I

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: T436I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: T436I

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
Meta Mutation Damage Score 0.0717 question?
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 83,938,514 (GRCm38) M1322V possibly damaging Het
Adprh C T 16: 38,446,034 (GRCm38) V249I probably benign Het
Als2 T C 1: 59,215,872 (GRCm38) S109G probably benign Het
Bpifa1 T A 2: 154,147,642 (GRCm38) N250K probably damaging Het
Capn9 A C 8: 124,605,559 (GRCm38) Y423S probably damaging Het
Cd200r1 T G 16: 44,794,282 (GRCm38) V308G probably benign Het
Cic T C 7: 25,285,821 (GRCm38) probably benign Het
Col5a1 T A 2: 28,032,745 (GRCm38) I275N possibly damaging Het
Col6a4 C A 9: 106,041,164 (GRCm38) probably benign Het
Cpeb1 T C 7: 81,436,290 (GRCm38) R35G probably benign Het
Cul1 A G 6: 47,495,081 (GRCm38) Y52C probably damaging Het
Dctn1 T C 6: 83,192,493 (GRCm38) F496L probably damaging Het
Dock11 G T X: 36,047,046 (GRCm38) probably benign Het
Eaf2 C T 16: 36,828,122 (GRCm38) R12H probably benign Het
Gcc1 T A 6: 28,418,402 (GRCm38) Q644L possibly damaging Het
Gm44865 C T 7: 108,565,797 (GRCm38) probably benign Het
Gm6614 C A 6: 141,992,502 (GRCm38) L230F probably damaging Het
Golgb1 C T 16: 36,912,866 (GRCm38) S825L probably benign Het
Gstp3 C T 19: 4,058,730 (GRCm38) probably null Het
Heph T A X: 96,527,567 (GRCm38) I669N probably benign Het
Il12rb1 A T 8: 70,820,558 (GRCm38) Y635F possibly damaging Het
Ing3 G A 6: 21,971,222 (GRCm38) A331T probably benign Het
Ipo8 T A 6: 148,784,707 (GRCm38) I762F probably benign Het
Itpr3 G A 17: 27,091,933 (GRCm38) R510Q probably damaging Het
Kif16b A G 2: 142,619,913 (GRCm38) Y1273H probably damaging Het
Map3k14 T C 11: 103,225,101 (GRCm38) E784G probably damaging Het
Mpdz A T 4: 81,292,565 (GRCm38) N1694K probably damaging Het
Myh13 T C 11: 67,344,853 (GRCm38) F648S probably damaging Het
Myh4 A G 11: 67,259,156 (GRCm38) H1847R probably benign Het
Ncoa7 T A 10: 30,647,997 (GRCm38) D840V probably damaging Het
Nxpe2 T A 9: 48,319,692 (GRCm38) N459I possibly damaging Het
Olfr1297 T C 2: 111,621,190 (GRCm38) K295E probably damaging Het
Olfr1426 C A 19: 12,088,611 (GRCm38) L60F possibly damaging Het
Olfr730 C A 14: 50,187,008 (GRCm38) D70Y probably damaging Het
Ovgp1 T C 3: 105,986,366 (GRCm38) F485S probably benign Het
Parp4 G T 14: 56,637,869 (GRCm38) A1182S probably benign Het
Pla2g15 G A 8: 106,160,219 (GRCm38) R114H probably benign Het
Plppr3 T A 10: 79,866,046 (GRCm38) T321S probably benign Het
Rnf113a1 A G X: 37,192,095 (GRCm38) D235G probably benign Het
Rsrp1 A G 4: 134,924,389 (GRCm38) T155A possibly damaging Het
Simc1 G T 13: 54,537,212 (GRCm38) C87F probably damaging Het
Slco1a5 A G 6: 142,248,843 (GRCm38) probably benign Het
Smyd5 A G 6: 85,442,164 (GRCm38) D276G possibly damaging Het
Spata5 T C 3: 37,432,179 (GRCm38) V350A possibly damaging Het
Tmem132c A G 5: 127,563,624 (GRCm38) Y953C probably damaging Het
Trank1 T A 9: 111,390,293 (GRCm38) S2033T possibly damaging Het
Trim69 A G 2: 122,178,634 (GRCm38) T392A probably damaging Het
Tsks T C 7: 44,943,300 (GRCm38) V6A probably damaging Het
Yjefn3 A G 8: 69,889,556 (GRCm38) probably benign Het
Zfp263 T G 16: 3,746,480 (GRCm38) D211E probably benign Het
Zfp994 A T 17: 22,202,680 (GRCm38) F51L probably damaging Het
Znfx1 A T 2: 167,055,765 (GRCm38) M413K probably benign Het
Other mutations in Pkd1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Pkd1l2 APN 8 117,059,520 (GRCm38) nonsense probably null
IGL01353:Pkd1l2 APN 8 117,057,443 (GRCm38) missense probably benign 0.24
IGL01362:Pkd1l2 APN 8 117,021,856 (GRCm38) missense probably damaging 1.00
IGL01486:Pkd1l2 APN 8 117,059,592 (GRCm38) missense probably benign
IGL01672:Pkd1l2 APN 8 117,080,732 (GRCm38) missense possibly damaging 0.94
IGL01696:Pkd1l2 APN 8 117,056,387 (GRCm38) missense probably benign 0.12
IGL01819:Pkd1l2 APN 8 116,998,174 (GRCm38) missense probably damaging 1.00
IGL01833:Pkd1l2 APN 8 117,060,525 (GRCm38) missense probably benign 0.00
IGL01981:Pkd1l2 APN 8 117,016,916 (GRCm38) missense probably benign 0.04
IGL02066:Pkd1l2 APN 8 117,009,564 (GRCm38) splice site probably benign
IGL02381:Pkd1l2 APN 8 117,035,800 (GRCm38) splice site probably benign
IGL02416:Pkd1l2 APN 8 117,040,835 (GRCm38) missense possibly damaging 0.82
IGL02736:Pkd1l2 APN 8 117,040,666 (GRCm38) missense probably benign 0.00
IGL02828:Pkd1l2 APN 8 117,029,559 (GRCm38) missense probably benign
IGL02861:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02862:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02883:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02884:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02894:Pkd1l2 APN 8 117,013,891 (GRCm38) missense probably damaging 0.97
IGL02900:Pkd1l2 APN 8 117,024,091 (GRCm38) missense probably benign 0.03
IGL02901:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02929:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02941:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02957:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL02969:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03028:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03059:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03066:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03083:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03084:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03124:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03162:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03165:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03335:Pkd1l2 APN 8 117,065,745 (GRCm38) missense probably benign 0.07
IGL03357:Pkd1l2 APN 8 116,995,809 (GRCm38) missense probably damaging 1.00
IGL02835:Pkd1l2 UTSW 8 117,065,745 (GRCm38) missense probably benign 0.07
PIT4453001:Pkd1l2 UTSW 8 117,022,022 (GRCm38) missense probably benign 0.00
R0127:Pkd1l2 UTSW 8 117,050,048 (GRCm38) splice site probably benign
R0309:Pkd1l2 UTSW 8 116,997,576 (GRCm38) missense probably damaging 0.99
R0365:Pkd1l2 UTSW 8 117,021,850 (GRCm38) missense probably benign 0.02
R0526:Pkd1l2 UTSW 8 117,082,260 (GRCm38) missense probably damaging 1.00
R0571:Pkd1l2 UTSW 8 117,082,218 (GRCm38) missense probably benign 0.01
R0716:Pkd1l2 UTSW 8 117,051,100 (GRCm38) missense probably damaging 1.00
R0787:Pkd1l2 UTSW 8 117,076,177 (GRCm38) missense possibly damaging 0.90
R0893:Pkd1l2 UTSW 8 117,044,492 (GRCm38) missense probably damaging 0.99
R1256:Pkd1l2 UTSW 8 117,019,543 (GRCm38) critical splice acceptor site probably null
R1391:Pkd1l2 UTSW 8 117,054,934 (GRCm38) missense possibly damaging 0.87
R1474:Pkd1l2 UTSW 8 117,065,497 (GRCm38) splice site probably benign
R1491:Pkd1l2 UTSW 8 117,028,408 (GRCm38) missense probably damaging 1.00
R1520:Pkd1l2 UTSW 8 117,046,159 (GRCm38) missense probably benign 0.00
R1521:Pkd1l2 UTSW 8 117,065,500 (GRCm38) splice site probably null
R1544:Pkd1l2 UTSW 8 117,038,235 (GRCm38) frame shift probably null
R1558:Pkd1l2 UTSW 8 117,082,252 (GRCm38) missense possibly damaging 0.94
R1673:Pkd1l2 UTSW 8 117,040,775 (GRCm38) missense probably benign 0.00
R1691:Pkd1l2 UTSW 8 117,056,419 (GRCm38) missense possibly damaging 0.60
R1754:Pkd1l2 UTSW 8 117,030,719 (GRCm38) missense possibly damaging 0.81
R1857:Pkd1l2 UTSW 8 117,040,669 (GRCm38) missense possibly damaging 0.70
R1939:Pkd1l2 UTSW 8 117,046,182 (GRCm38) nonsense probably null
R1955:Pkd1l2 UTSW 8 117,043,361 (GRCm38) missense probably benign
R1957:Pkd1l2 UTSW 8 117,030,682 (GRCm38) missense probably damaging 1.00
R1959:Pkd1l2 UTSW 8 117,043,231 (GRCm38) critical splice donor site probably null
R2024:Pkd1l2 UTSW 8 117,019,533 (GRCm38) missense probably benign
R2046:Pkd1l2 UTSW 8 116,999,955 (GRCm38) missense probably damaging 1.00
R2102:Pkd1l2 UTSW 8 117,081,469 (GRCm38) missense probably damaging 0.98
R2116:Pkd1l2 UTSW 8 117,030,722 (GRCm38) missense possibly damaging 0.93
R2148:Pkd1l2 UTSW 8 117,056,325 (GRCm38) missense probably damaging 0.98
R2251:Pkd1l2 UTSW 8 117,057,438 (GRCm38) missense probably damaging 1.00
R2252:Pkd1l2 UTSW 8 117,057,438 (GRCm38) missense probably damaging 1.00
R2366:Pkd1l2 UTSW 8 117,043,317 (GRCm38) missense probably benign 0.01
R2566:Pkd1l2 UTSW 8 117,019,494 (GRCm38) missense probably damaging 1.00
R2872:Pkd1l2 UTSW 8 117,038,164 (GRCm38) missense probably benign 0.10
R2872:Pkd1l2 UTSW 8 117,038,164 (GRCm38) missense probably benign 0.10
R2985:Pkd1l2 UTSW 8 117,065,551 (GRCm38) missense probably benign 0.00
R3055:Pkd1l2 UTSW 8 117,068,315 (GRCm38) critical splice acceptor site probably null
R3436:Pkd1l2 UTSW 8 117,040,739 (GRCm38) missense probably benign 0.01
R4732:Pkd1l2 UTSW 8 116,995,842 (GRCm38) critical splice acceptor site probably null
R4733:Pkd1l2 UTSW 8 116,995,842 (GRCm38) critical splice acceptor site probably null
R4763:Pkd1l2 UTSW 8 117,019,429 (GRCm38) missense probably damaging 0.96
R4789:Pkd1l2 UTSW 8 117,011,575 (GRCm38) missense probably damaging 0.99
R4921:Pkd1l2 UTSW 8 117,054,885 (GRCm38) missense probably benign 0.03
R4921:Pkd1l2 UTSW 8 117,072,549 (GRCm38) missense probably damaging 0.97
R4999:Pkd1l2 UTSW 8 117,047,374 (GRCm38) splice site probably null
R5057:Pkd1l2 UTSW 8 117,055,008 (GRCm38) missense probably benign 0.21
R5209:Pkd1l2 UTSW 8 117,056,442 (GRCm38) missense probably benign 0.23
R5241:Pkd1l2 UTSW 8 117,035,118 (GRCm38) missense probably damaging 1.00
R5480:Pkd1l2 UTSW 8 117,030,649 (GRCm38) missense probably damaging 0.99
R5501:Pkd1l2 UTSW 8 117,065,830 (GRCm38) missense probably damaging 0.98
R5533:Pkd1l2 UTSW 8 117,068,116 (GRCm38) missense probably benign 0.03
R5582:Pkd1l2 UTSW 8 117,040,783 (GRCm38) nonsense probably null
R5610:Pkd1l2 UTSW 8 117,042,320 (GRCm38) missense probably benign 0.04
R5770:Pkd1l2 UTSW 8 117,055,018 (GRCm38) missense probably damaging 1.00
R5854:Pkd1l2 UTSW 8 117,065,746 (GRCm38) missense possibly damaging 0.48
R5867:Pkd1l2 UTSW 8 117,055,011 (GRCm38) missense probably damaging 0.96
R5881:Pkd1l2 UTSW 8 116,997,582 (GRCm38) missense probably damaging 0.99
R5906:Pkd1l2 UTSW 8 117,029,648 (GRCm38) missense probably damaging 1.00
R5909:Pkd1l2 UTSW 8 117,024,056 (GRCm38) missense probably benign 0.00
R6030:Pkd1l2 UTSW 8 117,043,237 (GRCm38) missense probably damaging 1.00
R6030:Pkd1l2 UTSW 8 117,043,237 (GRCm38) missense probably damaging 1.00
R6084:Pkd1l2 UTSW 8 117,013,987 (GRCm38) missense probably damaging 1.00
R6122:Pkd1l2 UTSW 8 117,082,368 (GRCm38) missense probably benign 0.02
R6216:Pkd1l2 UTSW 8 117,081,470 (GRCm38) missense probably damaging 1.00
R6406:Pkd1l2 UTSW 8 117,035,847 (GRCm38) missense probably damaging 0.99
R6417:Pkd1l2 UTSW 8 117,013,899 (GRCm38) missense probably damaging 1.00
R6420:Pkd1l2 UTSW 8 117,013,899 (GRCm38) missense probably damaging 1.00
R6601:Pkd1l2 UTSW 8 117,040,666 (GRCm38) missense probably benign 0.00
R6743:Pkd1l2 UTSW 8 117,030,631 (GRCm38) missense probably damaging 1.00
R7053:Pkd1l2 UTSW 8 117,013,942 (GRCm38) missense probably damaging 1.00
R7144:Pkd1l2 UTSW 8 117,076,131 (GRCm38) nonsense probably null
R7148:Pkd1l2 UTSW 8 117,080,786 (GRCm38) missense probably benign 0.00
R7169:Pkd1l2 UTSW 8 117,040,835 (GRCm38) missense possibly damaging 0.82
R7217:Pkd1l2 UTSW 8 116,995,797 (GRCm38) missense probably benign 0.24
R7310:Pkd1l2 UTSW 8 117,024,034 (GRCm38) missense probably benign
R7382:Pkd1l2 UTSW 8 117,054,871 (GRCm38) missense possibly damaging 0.95
R7397:Pkd1l2 UTSW 8 117,035,902 (GRCm38) missense possibly damaging 0.94
R7408:Pkd1l2 UTSW 8 117,028,479 (GRCm38) missense possibly damaging 0.77
R7437:Pkd1l2 UTSW 8 117,030,682 (GRCm38) missense probably damaging 0.96
R7492:Pkd1l2 UTSW 8 117,068,110 (GRCm38) missense probably damaging 1.00
R7496:Pkd1l2 UTSW 8 117,060,594 (GRCm38) missense possibly damaging 0.89
R7519:Pkd1l2 UTSW 8 117,065,529 (GRCm38) missense probably benign
R7590:Pkd1l2 UTSW 8 117,080,786 (GRCm38) missense probably benign 0.00
R7623:Pkd1l2 UTSW 8 117,029,645 (GRCm38) missense probably damaging 1.00
R7768:Pkd1l2 UTSW 8 117,054,860 (GRCm38) critical splice donor site probably null
R7897:Pkd1l2 UTSW 8 116,998,088 (GRCm38) missense possibly damaging 0.69
R7982:Pkd1l2 UTSW 8 117,051,187 (GRCm38) missense possibly damaging 0.70
R8024:Pkd1l2 UTSW 8 117,076,182 (GRCm38) missense possibly damaging 0.85
R8140:Pkd1l2 UTSW 8 117,047,497 (GRCm38) missense probably benign
R8145:Pkd1l2 UTSW 8 117,055,003 (GRCm38) missense probably benign
R8228:Pkd1l2 UTSW 8 117,065,775 (GRCm38) missense probably damaging 0.97
R8252:Pkd1l2 UTSW 8 117,040,733 (GRCm38) missense probably benign 0.29
R8500:Pkd1l2 UTSW 8 117,047,563 (GRCm38) critical splice acceptor site probably null
R8732:Pkd1l2 UTSW 8 117,065,572 (GRCm38) missense probably benign 0.28
R8809:Pkd1l2 UTSW 8 116,999,921 (GRCm38) missense probably damaging 1.00
R8896:Pkd1l2 UTSW 8 117,013,876 (GRCm38) missense possibly damaging 0.91
R8961:Pkd1l2 UTSW 8 116,999,978 (GRCm38) missense possibly damaging 0.52
R8985:Pkd1l2 UTSW 8 117,038,110 (GRCm38) missense probably benign 0.01
R9008:Pkd1l2 UTSW 8 117,042,298 (GRCm38) missense probably benign 0.32
R9091:Pkd1l2 UTSW 8 117,032,694 (GRCm38) missense probably damaging 1.00
R9138:Pkd1l2 UTSW 8 117,055,009 (GRCm38) missense probably benign 0.43
R9160:Pkd1l2 UTSW 8 117,040,669 (GRCm38) missense possibly damaging 0.70
R9249:Pkd1l2 UTSW 8 117,019,420 (GRCm38) missense probably damaging 0.99
R9270:Pkd1l2 UTSW 8 117,032,694 (GRCm38) missense probably damaging 1.00
R9735:Pkd1l2 UTSW 8 117,046,081 (GRCm38) missense possibly damaging 0.94
Z1176:Pkd1l2 UTSW 8 117,054,914 (GRCm38) missense probably damaging 1.00
Z1177:Pkd1l2 UTSW 8 117,030,691 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02