Incidental Mutation 'IGL02031:Pp2d1'
ID 184355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pp2d1
Ensembl Gene ENSMUSG00000044957
Gene Name protein phosphatase 2C-like domain containing 1
Synonyms 4921523A10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02031
Quality Score
Status
Chromosome 17
Chromosomal Location 53814488-53846479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53815468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 419 (T419S)
Ref Sequence ENSEMBL: ENSMUSP00000056682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017975] [ENSMUST00000056198]
AlphaFold Q8BVT6
Predicted Effect probably benign
Transcript: ENSMUST00000017975
SMART Domains Protein: ENSMUSP00000017975
Gene: ENSMUSG00000017831

DomainStartEndE-ValueType
RAB 21 184 4.91e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000056198
AA Change: T419S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: T419S

DomainStartEndE-ValueType
PP2Cc 173 609 4.04e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,028 (GRCm39) probably benign Het
Akap11 T C 14: 78,751,253 (GRCm39) D378G possibly damaging Het
Ankrd33b A T 15: 31,325,329 (GRCm39) F129L probably damaging Het
Apob A G 12: 8,065,222 (GRCm39) K4064E probably benign Het
Arhgef10l T C 4: 140,302,656 (GRCm39) D506G probably damaging Het
Arid4b A C 13: 14,327,997 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,899,570 (GRCm39) Y1263N probably damaging Het
Ckap5 T C 2: 91,443,117 (GRCm39) L1697P possibly damaging Het
Cplane1 T C 15: 8,209,253 (GRCm39) F230S probably damaging Het
Cpxm1 C T 2: 130,235,601 (GRCm39) V464M probably damaging Het
Dhrs7c A G 11: 67,706,715 (GRCm39) E291G probably benign Het
Dst C A 1: 34,228,998 (GRCm39) P1872H possibly damaging Het
G6pc2 G A 2: 69,053,335 (GRCm39) A130T probably benign Het
Gm4847 A G 1: 166,462,578 (GRCm39) V304A probably damaging Het
Gm8267 T C 14: 44,955,374 (GRCm39) D155G possibly damaging Het
Kank1 G A 19: 25,388,066 (GRCm39) V580I probably benign Het
Kcnh4 A G 11: 100,636,649 (GRCm39) S757P probably damaging Het
Krt34 C A 11: 99,929,849 (GRCm39) A216S possibly damaging Het
Mfhas1 A T 8: 36,056,526 (GRCm39) I334F probably damaging Het
Mrgprb8 A G 7: 48,039,087 (GRCm39) M253V probably benign Het
Or52n4b A T 7: 108,144,137 (GRCm39) H133L probably benign Het
Pprc1 T A 19: 46,060,782 (GRCm39) probably benign Het
Reln A G 5: 22,184,014 (GRCm39) S1662P probably damaging Het
Sema7a G A 9: 57,862,423 (GRCm39) E209K possibly damaging Het
Serinc2 C T 4: 130,158,237 (GRCm39) W15* probably null Het
Serpina3k A G 12: 104,311,525 (GRCm39) T368A probably benign Het
Setd3 A T 12: 108,129,289 (GRCm39) W54R probably damaging Het
Slc9c1 G A 16: 45,419,833 (GRCm39) S1001N probably benign Het
Snapc3 A G 4: 83,336,213 (GRCm39) D75G probably benign Het
Spata31e2 A G 1: 26,724,104 (GRCm39) Y359H probably damaging Het
Stard9 T C 2: 120,532,820 (GRCm39) S333P probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Other mutations in Pp2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Pp2d1 APN 17 53,822,667 (GRCm39) missense probably benign 0.00
IGL01939:Pp2d1 APN 17 53,822,167 (GRCm39) missense probably damaging 1.00
IGL02039:Pp2d1 APN 17 53,823,022 (GRCm39) nonsense probably null
IGL02108:Pp2d1 APN 17 53,822,433 (GRCm39) missense probably damaging 1.00
IGL02121:Pp2d1 APN 17 53,814,949 (GRCm39) missense probably damaging 1.00
IGL03034:Pp2d1 APN 17 53,815,081 (GRCm39) missense possibly damaging 0.88
R0483:Pp2d1 UTSW 17 53,814,999 (GRCm39) missense probably benign 0.29
R0562:Pp2d1 UTSW 17 53,846,196 (GRCm39) splice site probably benign
R1416:Pp2d1 UTSW 17 53,822,835 (GRCm39) missense probably benign 0.07
R1464:Pp2d1 UTSW 17 53,823,015 (GRCm39) missense possibly damaging 0.94
R1464:Pp2d1 UTSW 17 53,823,015 (GRCm39) missense possibly damaging 0.94
R1479:Pp2d1 UTSW 17 53,814,883 (GRCm39) missense probably benign 0.05
R1659:Pp2d1 UTSW 17 53,822,406 (GRCm39) missense possibly damaging 0.50
R1711:Pp2d1 UTSW 17 53,822,338 (GRCm39) missense possibly damaging 0.47
R2214:Pp2d1 UTSW 17 53,822,424 (GRCm39) missense probably benign 0.01
R2217:Pp2d1 UTSW 17 53,822,482 (GRCm39) missense probably benign 0.02
R2218:Pp2d1 UTSW 17 53,822,482 (GRCm39) missense probably benign 0.02
R4463:Pp2d1 UTSW 17 53,822,886 (GRCm39) missense probably benign
R4644:Pp2d1 UTSW 17 53,823,015 (GRCm39) missense probably benign 0.00
R4901:Pp2d1 UTSW 17 53,822,037 (GRCm39) missense probably benign 0.20
R5164:Pp2d1 UTSW 17 53,815,098 (GRCm39) missense probably benign 0.11
R5169:Pp2d1 UTSW 17 53,814,930 (GRCm39) missense possibly damaging 0.78
R5186:Pp2d1 UTSW 17 53,815,168 (GRCm39) missense probably benign
R5223:Pp2d1 UTSW 17 53,814,873 (GRCm39) missense probably benign 0.12
R6550:Pp2d1 UTSW 17 53,822,604 (GRCm39) missense probably damaging 0.98
R6918:Pp2d1 UTSW 17 53,822,487 (GRCm39) missense probably damaging 0.99
R7263:Pp2d1 UTSW 17 53,822,358 (GRCm39) missense probably benign 0.00
R7623:Pp2d1 UTSW 17 53,822,907 (GRCm39) missense probably benign 0.00
R7712:Pp2d1 UTSW 17 53,815,318 (GRCm39) missense possibly damaging 0.63
R8062:Pp2d1 UTSW 17 53,822,798 (GRCm39) missense probably benign 0.01
R8165:Pp2d1 UTSW 17 53,822,257 (GRCm39) missense probably damaging 1.00
R8694:Pp2d1 UTSW 17 53,815,191 (GRCm39) missense probably benign 0.01
R8815:Pp2d1 UTSW 17 53,814,897 (GRCm39) missense probably benign 0.41
R9704:Pp2d1 UTSW 17 53,822,907 (GRCm39) missense probably benign 0.00
X0019:Pp2d1 UTSW 17 53,822,575 (GRCm39) missense probably benign 0.19
Posted On 2014-05-07