Incidental Mutation 'IGL03072:Ppp3cb'
ID 417551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp3cb
Ensembl Gene ENSMUSG00000021816
Gene Name protein phosphatase 3, catalytic subunit, beta isoform
Synonyms Cnab, CnAbeta, 1110063J16Rik, Calnb, PP2BA beta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03072
Quality Score
Status
Chromosome 14
Chromosomal Location 20549432-20596641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20581793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 74 (I74T)
Ref Sequence ENSEMBL: ENSMUSP00000125582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022355] [ENSMUST00000159027] [ENSMUST00000161445] [ENSMUST00000161989]
AlphaFold P48453
Predicted Effect possibly damaging
Transcript: ENSMUST00000022355
AA Change: I74T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: I74T

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159027
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: I74T

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161445
AA Change: I74T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: I74T

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161989
AA Change: I74T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: I74T

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
low complexity region 487 497 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,408,116 (GRCm39) V148I probably benign Het
Ahcyl2 T C 6: 29,906,500 (GRCm39) probably benign Het
Ahnak T C 19: 8,983,872 (GRCm39) S1719P probably benign Het
C2cd5 A G 6: 143,025,609 (GRCm39) I196T possibly damaging Het
Cdhr2 A G 13: 54,874,474 (GRCm39) I849V probably benign Het
Cpsf3 A G 12: 21,345,089 (GRCm39) K134E possibly damaging Het
Dnai1 A G 4: 41,602,979 (GRCm39) T161A probably benign Het
Gm17093 G T 14: 44,758,129 (GRCm39) probably benign Het
Igf2bp2 A G 16: 21,886,891 (GRCm39) probably null Het
Lcor T C 19: 41,547,253 (GRCm39) V279A possibly damaging Het
Myo9a C A 9: 59,716,725 (GRCm39) T475K possibly damaging Het
Nat8f4 A G 6: 85,877,836 (GRCm39) probably benign Het
Neto1 A G 18: 86,516,714 (GRCm39) T344A probably benign Het
Or6c203 A T 10: 129,010,358 (GRCm39) D177E probably damaging Het
Or7c19 A G 8: 85,957,139 (GRCm39) N5S probably benign Het
Or8k17 A T 2: 86,066,804 (GRCm39) M118K probably damaging Het
Pde8a A T 7: 80,958,557 (GRCm39) I312F probably damaging Het
Prom1 T C 5: 44,216,004 (GRCm39) probably benign Het
Psg29 T C 7: 16,942,719 (GRCm39) V240A probably benign Het
Reep4 T C 14: 70,785,675 (GRCm39) S238P probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tmprss5 T A 9: 49,020,318 (GRCm39) N99K possibly damaging Het
Tph1 G A 7: 46,302,283 (GRCm39) T313M probably damaging Het
Tprn T C 2: 25,154,530 (GRCm39) S611P probably damaging Het
Upp2 G T 2: 58,645,435 (GRCm39) probably null Het
Vezt C A 10: 93,809,895 (GRCm39) A549S probably damaging Het
Zfp786 A G 6: 47,798,177 (GRCm39) Y254H probably benign Het
Other mutations in Ppp3cb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Ppp3cb APN 14 20,578,318 (GRCm39) missense probably benign 0.00
IGL00844:Ppp3cb APN 14 20,581,754 (GRCm39) missense possibly damaging 0.95
IGL01859:Ppp3cb APN 14 20,559,517 (GRCm39) missense probably damaging 0.99
IGL02490:Ppp3cb APN 14 20,581,726 (GRCm39) critical splice donor site probably null
IGL02546:Ppp3cb APN 14 20,551,622 (GRCm39) missense probably benign 0.00
IGL02555:Ppp3cb APN 14 20,581,021 (GRCm39) missense probably damaging 1.00
IGL02724:Ppp3cb APN 14 20,573,645 (GRCm39) splice site probably null
IGL02944:Ppp3cb APN 14 20,578,303 (GRCm39) missense probably damaging 1.00
IGL03301:Ppp3cb APN 14 20,574,052 (GRCm39) missense probably damaging 0.99
Copacabana UTSW 14 20,581,010 (GRCm39) critical splice donor site probably null
eden_express UTSW 14 20,578,263 (GRCm39) nonsense probably null
everglades UTSW 14 20,581,016 (GRCm39) missense probably damaging 1.00
Havana UTSW 14 20,581,820 (GRCm39) missense possibly damaging 0.85
justinian UTSW 14 20,558,611 (GRCm39) missense possibly damaging 0.73
Prokopios UTSW 14 20,570,720 (GRCm39) missense probably benign 0.05
Redwood UTSW 14 20,559,508 (GRCm39) missense probably damaging 1.00
R0026:Ppp3cb UTSW 14 20,581,836 (GRCm39) missense probably benign 0.00
R0050:Ppp3cb UTSW 14 20,581,820 (GRCm39) missense possibly damaging 0.85
R0050:Ppp3cb UTSW 14 20,581,820 (GRCm39) missense possibly damaging 0.85
R0218:Ppp3cb UTSW 14 20,574,044 (GRCm39) missense probably damaging 0.99
R0479:Ppp3cb UTSW 14 20,553,309 (GRCm39) splice site probably null
R1013:Ppp3cb UTSW 14 20,574,072 (GRCm39) missense probably benign
R1061:Ppp3cb UTSW 14 20,558,682 (GRCm39) splice site probably null
R1498:Ppp3cb UTSW 14 20,559,567 (GRCm39) critical splice acceptor site probably null
R1508:Ppp3cb UTSW 14 20,574,492 (GRCm39) missense probably damaging 0.99
R1719:Ppp3cb UTSW 14 20,574,131 (GRCm39) missense probably benign 0.05
R1799:Ppp3cb UTSW 14 20,574,540 (GRCm39) missense possibly damaging 0.81
R1883:Ppp3cb UTSW 14 20,573,913 (GRCm39) missense possibly damaging 0.66
R2082:Ppp3cb UTSW 14 20,558,746 (GRCm39) missense possibly damaging 0.66
R2176:Ppp3cb UTSW 14 20,570,720 (GRCm39) missense probably benign 0.05
R3021:Ppp3cb UTSW 14 20,573,921 (GRCm39) nonsense probably null
R3726:Ppp3cb UTSW 14 20,581,010 (GRCm39) critical splice donor site probably null
R4085:Ppp3cb UTSW 14 20,558,611 (GRCm39) missense possibly damaging 0.73
R4328:Ppp3cb UTSW 14 20,581,016 (GRCm39) missense probably damaging 1.00
R4509:Ppp3cb UTSW 14 20,565,569 (GRCm39) intron probably benign
R4600:Ppp3cb UTSW 14 20,570,714 (GRCm39) missense possibly damaging 0.60
R4601:Ppp3cb UTSW 14 20,570,714 (GRCm39) missense possibly damaging 0.60
R4603:Ppp3cb UTSW 14 20,570,714 (GRCm39) missense possibly damaging 0.60
R4610:Ppp3cb UTSW 14 20,570,714 (GRCm39) missense possibly damaging 0.60
R4611:Ppp3cb UTSW 14 20,570,714 (GRCm39) missense possibly damaging 0.60
R4694:Ppp3cb UTSW 14 20,551,583 (GRCm39) missense probably benign 0.00
R4749:Ppp3cb UTSW 14 20,574,130 (GRCm39) missense probably damaging 1.00
R4866:Ppp3cb UTSW 14 20,573,911 (GRCm39) missense probably damaging 1.00
R4911:Ppp3cb UTSW 14 20,559,508 (GRCm39) missense probably damaging 1.00
R5105:Ppp3cb UTSW 14 20,559,490 (GRCm39) missense possibly damaging 0.84
R5219:Ppp3cb UTSW 14 20,578,263 (GRCm39) nonsense probably null
R5586:Ppp3cb UTSW 14 20,570,758 (GRCm39) splice site probably benign
R5740:Ppp3cb UTSW 14 20,551,664 (GRCm39) missense possibly damaging 0.76
R6649:Ppp3cb UTSW 14 20,581,094 (GRCm39) missense probably damaging 1.00
R7362:Ppp3cb UTSW 14 20,573,719 (GRCm39) missense probably benign 0.00
R7493:Ppp3cb UTSW 14 20,558,619 (GRCm39) missense probably benign 0.01
R8291:Ppp3cb UTSW 14 20,573,662 (GRCm39) missense possibly damaging 0.89
R8438:Ppp3cb UTSW 14 20,565,658 (GRCm39) missense probably damaging 0.99
R8515:Ppp3cb UTSW 14 20,581,844 (GRCm39) missense probably benign 0.21
R8867:Ppp3cb UTSW 14 20,596,517 (GRCm39) unclassified probably benign
R9136:Ppp3cb UTSW 14 20,581,867 (GRCm39) missense probably benign 0.33
R9254:Ppp3cb UTSW 14 20,581,874 (GRCm39) missense probably benign
R9379:Ppp3cb UTSW 14 20,581,874 (GRCm39) missense probably benign
R9516:Ppp3cb UTSW 14 20,573,868 (GRCm39) missense probably damaging 1.00
R9670:Ppp3cb UTSW 14 20,578,314 (GRCm39) missense probably damaging 1.00
Z1177:Ppp3cb UTSW 14 20,558,586 (GRCm39) missense unknown
Posted On 2016-08-02