Incidental Mutation 'IGL02490:Ppp3cb'
ID 295618
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 # IGL02490
Quality Score
Status
Chromosome 14
Chromosomal Location 20549432-20596641 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 20581726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022355] [ENSMUST00000159027] [ENSMUST00000161445] [ENSMUST00000161989]
AlphaFold P48453
Predicted Effect probably null
Transcript: ENSMUST00000022355
SMART Domains Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159027
SMART Domains Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161445
SMART Domains Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161989
SMART Domains Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P probably damaging 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
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
IGL03072:Ppp3cb APN 14 20,581,793 (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 2015-04-16