Incidental Mutation 'R9408:Pkd2l2'
ID 711696
Institutional Source Beutler Lab
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Name polycystic kidney disease 2-like 2
Synonyms Polycystin - L2, TRPP5
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9408 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34541553-34575842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34563383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 478 (V478A)
Ref Sequence ENSEMBL: ENSMUSP00000014647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
AlphaFold Q9JLG4
Predicted Effect probably damaging
Transcript: ENSMUST00000014647
AA Change: V478A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: V478A

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:PKD_channel 75 497 9.8e-129 PFAM
Pfam:Ion_trans 281 490 4.1e-19 PFAM
coiled coil region 523 550 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166156
AA Change: V478A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: V478A

DomainStartEndE-ValueType
transmembrane domain 32 51 N/A INTRINSIC
Pfam:PKD_channel 75 497 9.6e-131 PFAM
Pfam:Ion_trans 242 502 4.8e-20 PFAM
coiled coil region 523 550 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted gene disruption display hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,522,030 (GRCm39) T1264I probably damaging Het
Aadac T A 3: 59,946,986 (GRCm39) V228E probably benign Het
Abca4 A T 3: 121,931,274 (GRCm39) R1436W probably benign Het
Abo A G 2: 26,738,287 (GRCm39) L39S probably benign Het
Acnat1 T A 4: 49,447,773 (GRCm39) R269S probably benign Het
Adap2 T C 11: 80,045,942 (GRCm39) V74A probably damaging Het
Ahctf1 C A 1: 179,603,638 (GRCm39) A803S possibly damaging Het
Ak6 A G 13: 100,792,003 (GRCm39) S149G probably benign Het
Ank T C 15: 27,591,588 (GRCm39) V444A probably damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Atf7 A C 15: 102,462,286 (GRCm39) V112G probably damaging Het
Brca2 A G 5: 150,464,982 (GRCm39) Y1582C probably damaging Het
Bricd5 G T 17: 24,693,083 (GRCm39) probably benign Het
Bsn C A 9: 108,016,652 (GRCm39) E120* probably null Het
Cacna1g T G 11: 94,321,050 (GRCm39) N1348T probably damaging Het
Ccnc T G 4: 21,746,776 (GRCm39) probably null Het
Cd163 A G 6: 124,297,497 (GRCm39) D881G probably benign Het
Cep295 G A 9: 15,244,619 (GRCm39) P1279L probably benign Het
Cic G A 7: 24,971,414 (GRCm39) V382I possibly damaging Het
Cyp21a1 G A 17: 35,020,860 (GRCm39) S453F probably damaging Het
D16Ertd472e A T 16: 78,344,646 (GRCm39) I154N probably benign Het
Dbf4 A G 5: 8,447,764 (GRCm39) V482A possibly damaging Het
Dchs2 G A 3: 83,192,573 (GRCm39) V1673M probably benign Het
Dctd T A 8: 48,590,385 (GRCm39) C119S probably damaging Het
Dock1 A G 7: 134,717,065 (GRCm39) T1234A probably damaging Het
Efcab3 T A 11: 104,621,255 (GRCm39) probably null Het
Eya4 A T 10: 22,999,805 (GRCm39) M386K Het
Fbxw19 T A 9: 109,315,101 (GRCm39) M154L probably benign Het
Frmpd1 T A 4: 45,279,182 (GRCm39) S636T probably benign Het
Glb1l A T 1: 75,177,683 (GRCm39) Y412N probably damaging Het
Gnb5 T A 9: 75,218,696 (GRCm39) L7Q probably damaging Het
Gpr19 C T 6: 134,864,704 (GRCm39) V3M unknown Het
Hivep2 A G 10: 14,007,505 (GRCm39) T1368A probably damaging Het
Hmx3 A T 7: 131,146,102 (GRCm39) Q270L probably damaging Het
Il1rap A T 16: 26,533,675 (GRCm39) I524F possibly damaging Het
Mettl17 G A 14: 52,125,491 (GRCm39) G198D probably damaging Het
Mga T A 2: 119,765,999 (GRCm39) I1421N possibly damaging Het
Myb T A 10: 21,026,275 (GRCm39) Q231L probably benign Het
Myef2l T A 3: 10,154,407 (GRCm39) M392K probably benign Het
Myf5 G A 10: 107,321,527 (GRCm39) T89I probably damaging Het
Nup214 T A 2: 31,937,523 (GRCm39) L1999Q probably damaging Het
Or10aa3 T C 1: 173,878,329 (GRCm39) L130P Het
Or1ad6 T A 11: 50,860,613 (GRCm39) L256Q probably damaging Het
Or4a76 A G 2: 89,460,388 (GRCm39) Y285H probably damaging Het
Or51t4 A T 7: 102,598,443 (GRCm39) H257L probably damaging Het
Or5w19 G A 2: 87,698,379 (GRCm39) G15R probably damaging Het
Or7a36 A G 10: 78,820,220 (GRCm39) M199V probably benign Het
Otog A T 7: 45,916,721 (GRCm39) D886V possibly damaging Het
Pde7a A C 3: 19,287,958 (GRCm39) V237G possibly damaging Het
Pigs T C 11: 78,230,213 (GRCm39) Y327H probably damaging Het
Pnrc1 C A 4: 33,246,488 (GRCm39) G157V probably damaging Het
Poglut1 G T 16: 38,347,137 (GRCm39) S343R probably benign Het
Ppwd1 A G 13: 104,346,155 (GRCm39) M500T possibly damaging Het
Pyy C T 11: 101,998,111 (GRCm39) G23E probably damaging Het
Ripor3 T A 2: 167,831,238 (GRCm39) D521V probably benign Het
Rnpepl1 T C 1: 92,845,424 (GRCm39) S448P probably benign Het
Sash1 G A 10: 8,637,994 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Synj1 C T 16: 90,741,740 (GRCm39) C1252Y probably benign Het
Tenm2 A T 11: 35,960,246 (GRCm39) L1027Q probably damaging Het
Tep1 A G 14: 51,074,637 (GRCm39) V1796A possibly damaging Het
Timp3 A T 10: 86,136,782 (GRCm39) E22V possibly damaging Het
Tlk1 A C 2: 70,617,219 (GRCm39) probably null Het
Tmco1 C A 1: 167,141,700 (GRCm39) T69K Het
Topaz1 T A 9: 122,626,728 (GRCm39) M1452K probably benign Het
Tsc22d2 T C 3: 58,367,453 (GRCm39) Y668H unknown Het
Uri1 A T 7: 37,669,031 (GRCm39) D153E probably benign Het
Vmn1r169 A T 7: 23,277,342 (GRCm39) T245S probably damaging Het
Vmn1r60 A G 7: 5,547,918 (GRCm39) Y61H Het
Zfp541 A T 7: 15,806,139 (GRCm39) E91D probably damaging Het
Zfp946 A G 17: 22,673,569 (GRCm39) N108D possibly damaging Het
Zpr1 T C 9: 46,186,747 (GRCm39) L194P probably damaging Het
Zzef1 T A 11: 72,755,653 (GRCm39) N1027K possibly damaging Het
Other mutations in Pkd2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Pkd2l2 APN 18 34,550,068 (GRCm39) missense probably damaging 1.00
IGL01943:Pkd2l2 APN 18 34,550,089 (GRCm39) missense probably damaging 1.00
IGL02039:Pkd2l2 APN 18 34,568,421 (GRCm39) critical splice donor site probably null
IGL02139:Pkd2l2 APN 18 34,545,768 (GRCm39) nonsense probably null
IGL02480:Pkd2l2 APN 18 34,571,843 (GRCm39) missense possibly damaging 0.48
IGL02742:Pkd2l2 APN 18 34,549,970 (GRCm39) nonsense probably null
IGL02818:Pkd2l2 APN 18 34,545,862 (GRCm39) missense probably damaging 0.97
IGL03218:Pkd2l2 APN 18 34,563,373 (GRCm39) missense probably damaging 1.00
IGL03345:Pkd2l2 APN 18 34,558,142 (GRCm39) missense probably damaging 1.00
R0362:Pkd2l2 UTSW 18 34,568,380 (GRCm39) missense probably benign 0.03
R0627:Pkd2l2 UTSW 18 34,558,155 (GRCm39) missense probably damaging 1.00
R0883:Pkd2l2 UTSW 18 34,563,321 (GRCm39) splice site probably null
R0973:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R0973:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R0974:Pkd2l2 UTSW 18 34,561,305 (GRCm39) missense probably damaging 1.00
R1199:Pkd2l2 UTSW 18 34,571,269 (GRCm39) critical splice donor site probably null
R1529:Pkd2l2 UTSW 18 34,563,755 (GRCm39) missense probably damaging 1.00
R1579:Pkd2l2 UTSW 18 34,560,446 (GRCm39) missense possibly damaging 0.49
R2229:Pkd2l2 UTSW 18 34,563,382 (GRCm39) missense probably damaging 1.00
R3695:Pkd2l2 UTSW 18 34,571,843 (GRCm39) missense possibly damaging 0.48
R4058:Pkd2l2 UTSW 18 34,561,245 (GRCm39) missense probably benign 0.22
R4600:Pkd2l2 UTSW 18 34,571,254 (GRCm39) missense probably benign 0.03
R4651:Pkd2l2 UTSW 18 34,542,889 (GRCm39) nonsense probably null
R4652:Pkd2l2 UTSW 18 34,542,889 (GRCm39) nonsense probably null
R5114:Pkd2l2 UTSW 18 34,566,355 (GRCm39) missense probably benign
R5341:Pkd2l2 UTSW 18 34,542,987 (GRCm39) splice site probably null
R5686:Pkd2l2 UTSW 18 34,558,290 (GRCm39) missense probably damaging 1.00
R5920:Pkd2l2 UTSW 18 34,563,826 (GRCm39) missense probably benign
R6061:Pkd2l2 UTSW 18 34,563,742 (GRCm39) missense probably damaging 1.00
R6167:Pkd2l2 UTSW 18 34,561,297 (GRCm39) missense probably damaging 1.00
R6217:Pkd2l2 UTSW 18 34,547,733 (GRCm39) missense probably benign 0.03
R6293:Pkd2l2 UTSW 18 34,560,497 (GRCm39) missense probably damaging 1.00
R6572:Pkd2l2 UTSW 18 34,571,824 (GRCm39) missense probably damaging 0.99
R6574:Pkd2l2 UTSW 18 34,558,134 (GRCm39) missense probably damaging 1.00
R6723:Pkd2l2 UTSW 18 34,571,210 (GRCm39) missense probably damaging 0.98
R6941:Pkd2l2 UTSW 18 34,549,936 (GRCm39) missense probably benign 0.02
R6958:Pkd2l2 UTSW 18 34,542,543 (GRCm39) nonsense probably null
R7052:Pkd2l2 UTSW 18 34,558,212 (GRCm39) missense possibly damaging 0.90
R7695:Pkd2l2 UTSW 18 34,561,298 (GRCm39) missense possibly damaging 0.77
R7763:Pkd2l2 UTSW 18 34,566,340 (GRCm39) critical splice acceptor site probably null
R7777:Pkd2l2 UTSW 18 34,549,913 (GRCm39) missense probably damaging 1.00
R7944:Pkd2l2 UTSW 18 34,560,481 (GRCm39) missense possibly damaging 0.90
R8003:Pkd2l2 UTSW 18 34,561,232 (GRCm39) missense probably damaging 1.00
R8468:Pkd2l2 UTSW 18 34,560,464 (GRCm39) missense possibly damaging 0.88
R8482:Pkd2l2 UTSW 18 34,558,166 (GRCm39) missense possibly damaging 0.52
R8729:Pkd2l2 UTSW 18 34,566,354 (GRCm39) missense probably benign
R8894:Pkd2l2 UTSW 18 34,571,273 (GRCm39) splice site probably benign
R9336:Pkd2l2 UTSW 18 34,561,158 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAATGCCAAGCTGTCATG -3'
(R):5'- GAACATGTTCTGGGGAGAAATATTC -3'

Sequencing Primer
(F):5'- CAATGCCAAGCTGTCATGTATGTG -3'
(R):5'- AAAGGTCCTGAGTTTGATTCCCCAG -3'
Posted On 2022-05-16