Incidental Mutation 'R2251:Pkd1l2'
ID 241682
Institutional Source Beutler Lab
Gene Symbol Pkd1l2
Ensembl Gene ENSMUSG00000034416
Gene Name polycystic kidney disease 1 like 2
Synonyms
MMRRC Submission 040251-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2251 (G1)
Quality Score 195
Status Not validated
Chromosome 8
Chromosomal Location 116995679-117082449 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117057438 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 700 (Y700C)
Ref Sequence ENSEMBL: ENSMUSP00000104721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098375] [ENSMUST00000109093]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098375
AA Change: Y700C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: Y700C

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 damaging
Transcript: ENSMUST00000109093
AA Change: Y700C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: Y700C

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,612 (GRCm38) S79F probably damaging Het
Abl1 T A 2: 31,779,119 (GRCm38) V170E probably damaging Het
Akap13 C T 7: 75,739,477 (GRCm38) T2381M possibly damaging Het
Armc8 T A 9: 99,502,600 (GRCm38) probably null Het
B3gnt3 A T 8: 71,692,818 (GRCm38) M302K probably damaging Het
Casp3 G T 8: 46,637,955 (GRCm38) W214L probably damaging Het
Cnot1 A G 8: 95,763,186 (GRCm38) V463A probably benign Het
Cntn2 T C 1: 132,525,321 (GRCm38) E411G probably damaging Het
Dgkg A T 16: 22,622,260 (GRCm38) M1K probably null Het
Faap20 A C 4: 155,250,553 (GRCm38) E37A possibly damaging Het
Fam186a T C 15: 99,945,097 (GRCm38) T1089A probably benign Het
Fgb T G 3: 83,043,284 (GRCm38) T388P probably damaging Het
Fndc1 G A 17: 7,753,607 (GRCm38) R1498W probably damaging Het
Gch1 T C 14: 47,189,341 (GRCm38) probably benign Het
Gzf1 T C 2: 148,683,936 (GRCm38) M109T probably damaging Het
H2-M10.1 A C 17: 36,325,606 (GRCm38) L102R probably damaging Het
Kpna1 T C 16: 36,021,569 (GRCm38) Y280H possibly damaging Het
Mbtps2 A T X: 157,559,033 (GRCm38) F270L probably benign Het
Mrpl40 T C 16: 18,875,375 (GRCm38) H29R probably benign Het
N4bp2 G A 5: 65,806,728 (GRCm38) V707I probably damaging Het
Nav2 A G 7: 49,453,277 (GRCm38) K608E probably damaging Het
Nfix T C 8: 84,716,170 (GRCm38) D458G probably benign Het
Ngdn T C 14: 55,023,395 (GRCm38) probably null Het
Nr3c1 G T 18: 39,486,751 (GRCm38) T161K probably benign Het
Olfr1279 A G 2: 111,306,310 (GRCm38) Y35C probably damaging Het
Olfr138 C T 17: 38,274,903 (GRCm38) A44V probably benign Het
Olfr672 A T 7: 104,996,595 (GRCm38) M103K probably damaging Het
Olfr988 A G 2: 85,353,858 (GRCm38) S23P possibly damaging Het
Pbld2 G T 10: 63,024,605 (GRCm38) probably benign Het
Plcb2 T C 2: 118,723,765 (GRCm38) N69S probably benign Het
Pwp2 T A 10: 78,181,088 (GRCm38) Q266L probably benign Het
Rnf133 T C 6: 23,649,175 (GRCm38) M252V probably benign Het
Scn8a A G 15: 101,017,106 (GRCm38) I1184V probably benign Het
Slc7a2 T C 8: 40,905,621 (GRCm38) Y334H probably benign Het
Smim11 T C 16: 92,310,828 (GRCm38) Y14H probably benign Het
Spata17 A T 1: 187,048,473 (GRCm38) L359Q possibly damaging Het
Spn T C 7: 127,137,159 (GRCm38) K59E probably benign Het
Tap2 A G 17: 34,211,954 (GRCm38) S343G probably damaging Het
Tcp11l2 T C 10: 84,605,069 (GRCm38) probably null Het
Tlr11 T A 14: 50,360,792 (GRCm38) N78K probably benign Het
Tm9sf2 T A 14: 122,139,731 (GRCm38) S224T probably benign Het
Trpm1 G A 7: 64,209,976 (GRCm38) G261D probably damaging Het
Usp3 T C 9: 66,562,578 (GRCm38) D87G probably damaging Het
Vmn1r189 T C 13: 22,102,548 (GRCm38) K40E probably damaging Het
Vps45 A T 3: 96,057,040 (GRCm38) D56E probably benign Het
Vstm2a C A 11: 16,368,273 (GRCm38) Q231K probably benign Het
Zcchc11 T A 4: 108,520,208 (GRCm38) D938E probably damaging Het
Zfp575 A T 7: 24,585,590 (GRCm38) C209S probably damaging Het
Zfp768 T C 7: 127,344,378 (GRCm38) T193A probably benign Het
Zfp867 T A 11: 59,465,493 (GRCm38) R38* 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
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
Predicted Primers PCR Primer
(F):5'- AGAAATTCCCTCAGGTCCCTAATC -3'
(R):5'- GCATGGCTGGGTTTATTCCATC -3'

Sequencing Primer
(F):5'- AGGTCCCTAATCTTCCTGACTG -3'
(R):5'- TTCTCCACAGACTTGAGAACTGGG -3'
Posted On 2014-10-16