Incidental Mutation 'R7982:Pkd1l2'
ID 651271
Institutional Source Beutler Lab
Gene Symbol Pkd1l2
Ensembl Gene ENSMUSG00000034416
Gene Name polycystic kidney disease 1 like 2
Synonyms
MMRRC Submission 046023-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7982 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 116995679-117082449 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117051187 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 875 (T875I)
Ref Sequence ENSEMBL: ENSMUSP00000104721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098375] [ENSMUST00000109093]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000098375
AA Change: T875I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: T875I

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 possibly damaging
Transcript: ENSMUST00000109093
AA Change: T875I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: T875I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,173,640 S625P probably damaging Het
Actl6b A G 5: 137,563,162 N142S probably benign Het
Ank1 A T 8: 23,119,381 D1363V probably damaging Het
Aox4 A C 1: 58,257,241 L1032F possibly damaging Het
Bcl2l15 T C 3: 103,832,842 M4T probably damaging Het
Cand1 A T 10: 119,216,473 S242R probably damaging Het
Cant1 A T 11: 118,410,142 V229D probably benign Het
Ccdc117 A G 11: 5,531,460 S224P possibly damaging Het
Cdc42ep4 T C 11: 113,728,576 R330G possibly damaging Het
Cep164 T C 9: 45,778,864 E527G probably benign Het
Cfap58 A G 19: 47,974,567 D472G probably benign Het
Cln6 A C 9: 62,849,168 K198T possibly damaging Het
Col4a4 G A 1: 82,571,441 probably benign Het
Cyp1b1 T C 17: 79,710,490 Y412C probably damaging Het
Dhx30 A T 9: 110,085,456 L991Q probably damaging Het
Dst C T 1: 34,182,540 T2475I possibly damaging Het
Exoc8 A T 8: 124,896,410 V406E probably damaging Het
Fam214b T C 4: 43,034,483 T371A probably damaging Het
Grk6 T A 13: 55,451,706 C201S probably damaging Het
Helz T C 11: 107,626,630 V664A possibly damaging Het
Hsd17b11 A G 5: 104,003,224 C215R possibly damaging Het
Hspb11 T C 4: 107,275,283 V89A probably benign Het
Kbtbd12 T C 6: 88,618,634 I71M possibly damaging Het
Khdc1a A T 1: 21,350,906 H105L probably benign Het
Klf6 T A 13: 5,861,823 L62Q probably damaging Het
Mc1r A G 8: 123,408,140 R211G probably damaging Het
Nt5m T A 11: 59,848,331 W68R possibly damaging Het
Nufip1 T C 14: 76,126,239 V301A probably benign Het
Olfr104-ps T G 17: 37,362,611 F165V probably damaging Het
Olfr1535 T C 13: 21,555,966 N19D probably benign Het
Olfr209 A G 16: 59,361,564 I218T probably benign Het
Olfr455 T A 6: 42,538,291 T244S probably damaging Het
Olfr561 A T 7: 102,775,103 D193V probably damaging Het
Ostn T C 16: 27,321,439 probably null Het
Pcdhb6 C T 18: 37,334,220 R65* probably null Het
Pds5b T C 5: 150,769,941 I706T probably damaging Het
Pgm1 T G 5: 64,100,959 Y96D probably damaging Het
Poc1b A G 10: 99,164,902 S355G probably benign Het
Ppp6r1 A C 7: 4,643,158 D181E probably benign Het
Pstpip2 G A 18: 77,879,373 V325M probably benign Het
Rras2 A T 7: 114,058,951 V92D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 probably benign Het
Ryr3 GTCTTCTTCTTCTTCTTC GTCTTCTTCTTCTTC 2: 112,669,249 probably benign Het
Stac2 T A 11: 98,042,553 M188L probably benign Het
Synrg G A 11: 84,019,818 D859N probably damaging Het
Tarbp1 A T 8: 126,444,301 S987T probably damaging Het
Tbx20 C A 9: 24,773,924 probably benign Het
Trim30d G T 7: 104,472,610 N309K possibly damaging Het
Ttc16 C T 2: 32,775,035 probably benign Het
Ttc34 T A 4: 154,861,418 I303N possibly damaging Het
Ubr4 T C 4: 139,428,208 probably null Het
Uros A T 7: 133,692,549 S168T unknown Het
Vmn2r6 C T 3: 64,559,820 G86D probably damaging Het
Ybx2 C T 11: 69,940,622 T295I possibly damaging Het
Zbed5 T A 5: 129,900,480 C146S possibly damaging Het
Zcchc2 G A 1: 106,031,171 C1124Y probably damaging Het
Zfp626 G A 7: 27,810,750 probably null 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
IGL03065: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
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
Predicted Primers PCR Primer
(F):5'- TGACTCACGAGCTCCATTCC -3'
(R):5'- GATACAAACGTGTCTGGGTGCC -3'

Sequencing Primer
(F):5'- GTCACATGCAGACTTTAAAGGAC -3'
(R):5'- CCTCCAGCCTCAGGAAGTG -3'
Posted On 2020-09-15