Incidental Mutation 'IGL03301:Ppp3cb'
ID 416227
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 # IGL03301
Quality Score
Status
Chromosome 14
Chromosomal Location 20549432-20596641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20574052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 262 (V262D)
Ref Sequence ENSEMBL: ENSMUSP00000125722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022355] [ENSMUST00000159027] [ENSMUST00000161445] [ENSMUST00000161989]
AlphaFold P48453
Predicted Effect probably damaging
Transcript: ENSMUST00000022355
AA Change: V262D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022355
Gene: ENSMUSG00000021816
AA Change: V262D

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: V262D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125722
Gene: ENSMUSG00000021816
AA Change: V262D

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
PP2Ac 65 356 5.03e-166 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161332
Predicted Effect possibly damaging
Transcript: ENSMUST00000161445
AA Change: V262D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125630
Gene: ENSMUSG00000021816
AA Change: V262D

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: V262D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125582
Gene: ENSMUSG00000021816
AA Change: V262D

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,855,263 (GRCm39) E418G probably damaging Het
Arl14 T C 3: 69,130,276 (GRCm39) F141S probably damaging Het
C1s1 A T 6: 124,518,283 (GRCm39) probably benign Het
Cilp T C 9: 65,187,499 (GRCm39) V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 (GRCm39) I129K probably benign Het
Ctdp1 G A 18: 80,492,849 (GRCm39) Q549* probably null Het
Cyp2ab1 T A 16: 20,132,549 (GRCm39) I250F possibly damaging Het
Dmd G A X: 82,952,120 (GRCm39) R1765Q probably damaging Het
Dnah1 C T 14: 31,014,649 (GRCm39) G1739R probably damaging Het
Eml6 T C 11: 29,714,083 (GRCm39) K1350E probably benign Het
Ephx4 C A 5: 107,574,730 (GRCm39) T256K probably benign Het
Fnd3c2 G T X: 105,295,869 (GRCm39) Q49K probably benign Het
Heatr1 G T 13: 12,449,086 (GRCm39) G1889W probably damaging Het
Igkv19-93 A T 6: 68,713,465 (GRCm39) W55R probably damaging Het
Jak1 T C 4: 101,032,370 (GRCm39) Y412C probably damaging Het
Moxd1 A T 10: 24,155,382 (GRCm39) N261I probably damaging Het
Mrgpra1 T C 7: 46,985,164 (GRCm39) N172D probably benign Het
Papolg T C 11: 23,824,503 (GRCm39) N293S probably benign Het
Piezo2 A G 18: 63,160,775 (GRCm39) S2294P probably damaging Het
Rhox7a A G X: 36,928,888 (GRCm39) T235A probably benign Het
Saal1 A G 7: 46,351,944 (GRCm39) probably benign Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Slc22a2 A G 17: 12,824,926 (GRCm39) R263G probably damaging Het
Speer3 T A 5: 13,845,447 (GRCm39) L160H probably damaging Het
Tmcc2 T C 1: 132,288,557 (GRCm39) M377V possibly damaging Het
Tsen2 T G 6: 115,545,732 (GRCm39) Y341D probably damaging Het
Vmn2r13 A T 5: 109,305,955 (GRCm39) V541D probably damaging Het
Vmn2r15 A G 5: 109,445,221 (GRCm39) probably null Het
Zfp711 T C X: 111,543,098 (GRCm39) Y710H probably damaging Het
Zmiz2 C T 11: 6,351,170 (GRCm39) T566M 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
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