Incidental Mutation 'R8291:Ppp3cb'
ID 638708
Institutional Source Beutler Lab
Gene Symbol Ppp3cb
Ensembl Gene ENSMUSG00000021816
Gene Name protein phosphatase 3, catalytic subunit, beta isoform
Synonyms Cnab, CnAbeta, 1110063J16Rik, Calnb, PP2BA beta
MMRRC Submission 067713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8291 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20549432-20596641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20573662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 323 (V323A)
Ref Sequence ENSEMBL: ENSMUSP00000125722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022355] [ENSMUST00000159027] [ENSMUST00000161445] [ENSMUST00000161989]
AlphaFold P48453
Predicted Effect probably benign
Transcript: ENSMUST00000022355
AA Change: V323A

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: V323A

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159027
AA Change: V323A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: V323A

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161445
AA Change: V323A

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: V323A

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161989
AA Change: V323A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: V323A

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (31/31)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,655,017 (GRCm39) V1447G probably damaging Het
Adgrf2 A T 17: 43,021,451 (GRCm39) F458I probably damaging Het
Adgrl2 T C 3: 148,556,554 (GRCm39) E571G possibly damaging Het
Ap1b1 T A 11: 4,968,027 (GRCm39) N179K probably damaging Het
Celsr3 T C 9: 108,715,169 (GRCm39) F2053L probably damaging Het
Ddx18 A G 1: 121,487,904 (GRCm39) V378A probably damaging Het
Dnah5 T C 15: 28,263,743 (GRCm39) F826S probably benign Het
Dnah8 A G 17: 30,984,701 (GRCm39) N3133S probably damaging Het
Fam111a A G 19: 12,564,943 (GRCm39) T275A probably benign Het
Gm5862 A T 5: 26,224,444 (GRCm39) V175E probably benign Het
Gprin3 A G 6: 59,331,990 (GRCm39) S106P possibly damaging Het
Kmt2b A G 7: 30,284,894 (GRCm39) L666P probably damaging Het
Lrp1 T C 10: 127,425,572 (GRCm39) D686G probably damaging Het
Marf1 A G 16: 13,950,432 (GRCm39) probably null Het
Or8g52 T C 9: 39,630,841 (GRCm39) V106A probably benign Het
Prkab2 A G 3: 97,569,605 (GRCm39) E57G possibly damaging Het
Sh2b2 A T 5: 136,261,209 (GRCm39) N2K possibly damaging Het
Smyd2 A T 1: 189,632,288 (GRCm39) probably benign Het
Spag17 A T 3: 99,968,166 (GRCm39) I1208F probably benign Het
Sumf2 T C 5: 129,887,138 (GRCm39) probably null Het
Tacr3 A G 3: 134,637,910 (GRCm39) R356G possibly damaging Het
Tmc4 A G 7: 3,674,421 (GRCm39) V310A probably benign Het
Tmem205 G A 9: 21,832,354 (GRCm39) L186F probably benign Het
Ttn T C 2: 76,617,553 (GRCm39) E16306G probably damaging Het
Ubap2l T C 3: 89,915,538 (GRCm39) *497W probably null Het
Ubr1 G A 2: 120,741,596 (GRCm39) T979I probably benign Het
Vmn1r159 A T 7: 22,542,255 (GRCm39) I259N possibly damaging Het
Vmp1 G A 11: 86,498,064 (GRCm39) P284S probably damaging Het
Wdsub1 A G 2: 59,693,018 (GRCm39) S299P probably damaging Het
Zfp438 G T 18: 5,211,010 (GRCm39) S676* probably null Het
Zfp94 T A 7: 24,002,155 (GRCm39) Y429F 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ACAAGTTGTAGAGTAGGCTGC -3'
(R):5'- GCAGGGTAAGAATTCTGTTTCC -3'

Sequencing Primer
(F):5'- TAGGCTGCATACAACTTGAGTG -3'
(R):5'- CAGGGTAAGAATTCTGTTTCCCTAGC -3'
Posted On 2020-07-28