Incidental Mutation 'IGL03218:Pkd2l2'
ID413539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkd2l2
Ensembl Gene ENSMUSG00000014503
Gene Namepolycystic kidney disease 2-like 2
SynonymsTRPP5, Polycystin - L2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03218
Quality Score
Status
Chromosome18
Chromosomal Location34409423-34442789 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34430320 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 475 (I475F)
Ref Sequence ENSEMBL: ENSMUSP00000127257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]
Predicted Effect probably damaging
Transcript: ENSMUST00000014647
AA Change: I475F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: I475F

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: I475F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: I475F

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,484,663 probably null Het
Acot9 T A X: 155,295,211 V251E possibly damaging Het
Agtpbp1 A G 13: 59,500,207 S600P possibly damaging Het
Amfr A T 8: 94,000,336 M157K probably damaging Het
Arvcf T C 16: 18,404,125 probably benign Het
Ascc3 T C 10: 50,823,853 V1924A possibly damaging Het
Atp10a T A 7: 58,788,448 probably null Het
Atp1a2 T A 1: 172,289,303 E249V probably null Het
C1qc A G 4: 136,890,287 L166P probably damaging Het
Col4a3 C A 1: 82,643,206 probably benign Het
Def8 A G 8: 123,456,436 D258G probably damaging Het
Dll1 T C 17: 15,373,568 D179G probably benign Het
Dnah14 C A 1: 181,755,269 H3124Q probably benign Het
Fabp5 T A 3: 10,014,963 probably benign Het
Fam133b C T 5: 3,554,684 Q24* probably null Het
Fam13c A C 10: 70,448,769 D25A possibly damaging Het
Flna A G X: 74,234,602 probably null Het
Frem1 T A 4: 82,914,646 T1917S probably benign Het
Frmd4b T C 6: 97,308,114 T337A probably benign Het
Fxyd7 C T 7: 31,044,570 probably null Het
Galnt5 T G 2: 57,999,389 S334A possibly damaging Het
Gm10220 T C 5: 26,118,698 K117R probably damaging Het
Gpd2 T A 2: 57,307,054 L207H probably damaging Het
H2-M10.3 T A 17: 36,367,387 Y182F probably damaging Het
Itga8 T C 2: 12,111,025 I1018V possibly damaging Het
Letmd1 T C 15: 100,469,828 F89S probably damaging Het
Mcm3ap A G 10: 76,482,733 Y696C probably damaging Het
Mcpt9 A G 14: 56,027,451 Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 V29A probably benign Het
Myom1 A G 17: 71,084,316 D940G possibly damaging Het
Myzap A G 9: 71,555,589 M225T probably benign Het
Naa25 A G 5: 121,426,070 Y516C probably damaging Het
Nsdhl T A X: 72,956,446 probably benign Het
Olfml1 A G 7: 107,571,269 E121G possibly damaging Het
Olfr1085 A G 2: 86,658,359 I33T probably benign Het
Olfr1245 A G 2: 89,575,591 V45A probably benign Het
Olfr736 A T 14: 50,393,658 M301L probably damaging Het
Phex C T X: 157,178,787 G636E probably damaging Het
Polr2b T A 5: 77,315,917 S54T probably benign Het
Prkx A T X: 77,786,200 L85Q probably damaging Het
Smc1b A T 15: 85,089,713 I914N probably benign Het
Susd2 A G 10: 75,642,625 L39P probably benign Het
Teddm2 C T 1: 153,851,024 V35I probably benign Het
Tspo T A 15: 83,571,430 V6E possibly damaging Het
Vps41 G T 13: 18,829,270 V353F possibly damaging Het
Wfdc18 T A 11: 83,709,207 probably null Het
Wsb1 C T 11: 79,248,498 S124N probably damaging Het
Zfp445 T C 9: 122,857,529 E177G probably benign Het
Zfp759 G T 13: 67,139,416 V344L probably benign Het
Other mutations in Pkd2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Pkd2l2 APN 18 34417015 missense probably damaging 1.00
IGL01943:Pkd2l2 APN 18 34417036 missense probably damaging 1.00
IGL02039:Pkd2l2 APN 18 34435368 critical splice donor site probably null
IGL02139:Pkd2l2 APN 18 34412715 nonsense probably null
IGL02480:Pkd2l2 APN 18 34438790 missense possibly damaging 0.48
IGL02742:Pkd2l2 APN 18 34416917 nonsense probably null
IGL02818:Pkd2l2 APN 18 34412809 missense probably damaging 0.97
IGL03345:Pkd2l2 APN 18 34425089 missense probably damaging 1.00
R0362:Pkd2l2 UTSW 18 34435327 missense probably benign 0.03
R0627:Pkd2l2 UTSW 18 34425102 missense probably damaging 1.00
R0883:Pkd2l2 UTSW 18 34430268 synonymous probably null
R0973:Pkd2l2 UTSW 18 34428252 missense probably damaging 1.00
R0973:Pkd2l2 UTSW 18 34428252 missense probably damaging 1.00
R0974:Pkd2l2 UTSW 18 34428252 missense probably damaging 1.00
R1199:Pkd2l2 UTSW 18 34438216 critical splice donor site probably null
R1529:Pkd2l2 UTSW 18 34430702 missense probably damaging 1.00
R1579:Pkd2l2 UTSW 18 34427393 missense possibly damaging 0.49
R2229:Pkd2l2 UTSW 18 34430329 missense probably damaging 1.00
R3695:Pkd2l2 UTSW 18 34438790 missense possibly damaging 0.48
R4058:Pkd2l2 UTSW 18 34428192 missense probably benign 0.22
R4600:Pkd2l2 UTSW 18 34438201 missense probably benign 0.03
R4651:Pkd2l2 UTSW 18 34409836 nonsense probably null
R4652:Pkd2l2 UTSW 18 34409836 nonsense probably null
R5114:Pkd2l2 UTSW 18 34433302 missense probably benign
R5341:Pkd2l2 UTSW 18 34409934 intron probably null
R5686:Pkd2l2 UTSW 18 34425237 missense probably damaging 1.00
R5920:Pkd2l2 UTSW 18 34430773 missense probably benign
R6061:Pkd2l2 UTSW 18 34430689 missense probably damaging 1.00
R6167:Pkd2l2 UTSW 18 34428244 missense probably damaging 1.00
R6217:Pkd2l2 UTSW 18 34414680 missense probably benign 0.03
R6293:Pkd2l2 UTSW 18 34427444 missense probably damaging 1.00
R6572:Pkd2l2 UTSW 18 34438771 missense probably damaging 0.99
R6574:Pkd2l2 UTSW 18 34425081 missense probably damaging 1.00
R6723:Pkd2l2 UTSW 18 34438157 missense probably damaging 0.98
R6941:Pkd2l2 UTSW 18 34416883 missense probably benign 0.02
R6958:Pkd2l2 UTSW 18 34409490 nonsense probably null
R7052:Pkd2l2 UTSW 18 34425159 missense possibly damaging 0.90
Posted On2016-08-02