Incidental Mutation 'IGL01060:Ppm1h'
ID 52027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppm1h
Ensembl Gene ENSMUSG00000034613
Gene Name protein phosphatase 1H (PP2C domain containing)
Synonyms C030002B11Rik, ARHCL1, A430075L18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01060
Quality Score
Status
Chromosome 10
Chromosomal Location 122514667-122781700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122743476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 400 (D400G)
Ref Sequence ENSEMBL: ENSMUSP00000124982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067918] [ENSMUST00000161487] [ENSMUST00000162969]
AlphaFold Q3UYC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000067918
AA Change: D400G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: D400G

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
PP2Cc 67 504 1.22e-35 SMART
PP2C_SIG 136 506 1.59e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161065
Predicted Effect possibly damaging
Transcript: ENSMUST00000161487
AA Change: D400G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: D400G

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
PP2Cc 67 455 6.36e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162969
AA Change: D19G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613
AA Change: D19G

DomainStartEndE-ValueType
Pfam:PP2C 2 99 2.9e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Anks4b A G 7: 119,773,148 (GRCm39) T3A possibly damaging Het
Arhgef26 T A 3: 62,247,542 (GRCm39) S209T probably benign Het
Ccdc78 A G 17: 26,007,806 (GRCm39) D281G probably damaging Het
Ccnb3 A T X: 6,846,513 (GRCm39) N1362K probably benign Het
Dnah2 T C 11: 69,368,918 (GRCm39) N1662S possibly damaging Het
Elp1 C T 4: 56,784,537 (GRCm39) probably null Het
Ern2 T A 7: 121,769,315 (GRCm39) R904W probably damaging Het
Fam120c C T X: 150,252,583 (GRCm39) P1045S probably benign Het
Gm12887 C T 4: 121,473,610 (GRCm39) probably benign Het
Gpld1 G A 13: 25,166,549 (GRCm39) G627S probably damaging Het
Krt77 T A 15: 101,769,315 (GRCm39) probably benign Het
Ltf A T 9: 110,851,950 (GRCm39) probably null Het
Map3k6 G T 4: 132,974,613 (GRCm39) probably null Het
Nsd1 G A 13: 55,411,242 (GRCm39) G1431D probably damaging Het
Plekhm2 C T 4: 141,369,956 (GRCm39) probably null Het
Popdc2 T A 16: 38,194,327 (GRCm39) N249K probably damaging Het
Rps6ka1 A T 4: 133,588,181 (GRCm39) S320T probably damaging Het
Rsph6a C T 7: 18,788,793 (GRCm39) R42* probably null Het
Sap130 T C 18: 31,848,496 (GRCm39) L967P probably damaging Het
Smyd2 T C 1: 189,629,667 (GRCm39) E121G possibly damaging Het
Sspo G A 6: 48,426,413 (GRCm39) W144* probably null Het
Taar6 A G 10: 23,860,970 (GRCm39) V192A probably benign Het
Tbc1d24 A T 17: 24,404,802 (GRCm39) V114E probably damaging Het
Trim16 T C 11: 62,711,530 (GRCm39) I67T probably benign Het
Ttll7 A G 3: 146,615,337 (GRCm39) D267G possibly damaging Het
Ttn T C 2: 76,720,073 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,447,016 (GRCm39) I379F probably damaging Het
Zfp14 T C 7: 29,737,510 (GRCm39) T492A probably damaging Het
Other mutations in Ppm1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Ppm1h APN 10 122,714,534 (GRCm39) critical splice donor site probably null
IGL01557:Ppm1h APN 10 122,618,086 (GRCm39) critical splice acceptor site probably null
IGL01608:Ppm1h APN 10 122,777,185 (GRCm39) nonsense probably null
IGL02112:Ppm1h APN 10 122,638,305 (GRCm39) missense possibly damaging 0.86
R0129:Ppm1h UTSW 10 122,777,260 (GRCm39) missense probably damaging 0.97
R0217:Ppm1h UTSW 10 122,756,640 (GRCm39) missense probably damaging 1.00
R0309:Ppm1h UTSW 10 122,756,687 (GRCm39) missense probably damaging 1.00
R0455:Ppm1h UTSW 10 122,638,229 (GRCm39) missense probably benign 0.00
R1144:Ppm1h UTSW 10 122,777,183 (GRCm39) missense probably benign 0.01
R1430:Ppm1h UTSW 10 122,693,004 (GRCm39) missense probably damaging 1.00
R2014:Ppm1h UTSW 10 122,756,630 (GRCm39) missense possibly damaging 0.79
R2021:Ppm1h UTSW 10 122,714,433 (GRCm39) nonsense probably null
R2882:Ppm1h UTSW 10 122,777,239 (GRCm39) missense probably damaging 0.99
R3767:Ppm1h UTSW 10 122,740,027 (GRCm39) missense probably damaging 1.00
R3768:Ppm1h UTSW 10 122,740,027 (GRCm39) missense probably damaging 1.00
R3770:Ppm1h UTSW 10 122,740,027 (GRCm39) missense probably damaging 1.00
R4816:Ppm1h UTSW 10 122,515,284 (GRCm39) missense possibly damaging 0.89
R4996:Ppm1h UTSW 10 122,777,245 (GRCm39) missense probably damaging 1.00
R5640:Ppm1h UTSW 10 122,618,183 (GRCm39) missense probably benign 0.30
R6199:Ppm1h UTSW 10 122,756,644 (GRCm39) missense probably damaging 1.00
R7759:Ppm1h UTSW 10 122,740,018 (GRCm39) missense probably benign
R7991:Ppm1h UTSW 10 122,618,152 (GRCm39) missense probably benign 0.00
R8160:Ppm1h UTSW 10 122,638,341 (GRCm39) missense probably benign 0.01
R8300:Ppm1h UTSW 10 122,618,118 (GRCm39) missense probably damaging 1.00
R8906:Ppm1h UTSW 10 122,714,451 (GRCm39) missense probably damaging 1.00
R9104:Ppm1h UTSW 10 122,638,264 (GRCm39) missense probably benign 0.01
R9459:Ppm1h UTSW 10 122,743,482 (GRCm39) missense possibly damaging 0.62
R9755:Ppm1h UTSW 10 122,638,165 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21