Incidental Mutation 'R4026:Ppp3r1'
ID 312994
Institutional Source Beutler Lab
Gene Symbol Ppp3r1
Ensembl Gene ENSMUSG00000033953
Gene Name protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I)
Synonyms CaNB1, Cnb1, PP2B beta 1
MMRRC Submission 040849-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4026 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 17109298-17150380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17144786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 133 (V133A)
Ref Sequence ENSEMBL: ENSMUSP00000099944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102880]
AlphaFold Q63810
Predicted Effect probably damaging
Transcript: ENSMUST00000102880
AA Change: V133A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099944
Gene: ENSMUSG00000033953
AA Change: V133A

DomainStartEndE-ValueType
EFh 22 50 2.95e0 SMART
EFh 54 82 1.14e-5 SMART
EFh 91 119 2.96e-4 SMART
EFh 132 160 3.01e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154425
Meta Mutation Damage Score 0.8790 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 97% (36/37)
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene results in embryonic death by midgestation due to vascular patterning defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Ahnak G T 19: 8,988,663 (GRCm39) V3316F probably damaging Het
Cacna1a C T 8: 85,307,962 (GRCm39) T1409I probably damaging Het
Ccdc158 A G 5: 92,791,666 (GRCm39) M698T probably benign Het
Ces2g T A 8: 105,691,377 (GRCm39) V171E probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dspp G A 5: 104,325,563 (GRCm39) S642N unknown Het
Fezf2 A T 14: 12,343,986 (GRCm38) C302S probably damaging Het
Gm10754 A G 10: 97,517,978 (GRCm39) probably benign Het
Gm5581 G A 6: 131,144,031 (GRCm39) noncoding transcript Het
Gm7929 T C 14: 41,472,509 (GRCm39) K21E probably damaging Het
Hmcn1 A T 1: 150,598,120 (GRCm39) D1727E probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Micu3 A G 8: 40,812,496 (GRCm39) probably benign Het
Mrpl3 T C 9: 104,948,685 (GRCm39) probably null Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Ncam1 T C 9: 49,476,295 (GRCm39) I265V probably benign Het
Ncoa7 T C 10: 30,598,720 (GRCm39) T68A probably benign Het
Oprk1 T C 1: 5,668,908 (GRCm39) V118A probably benign Het
Sidt1 A G 16: 44,102,249 (GRCm39) S304P possibly damaging Het
Srsf6 T A 2: 162,776,211 (GRCm39) probably benign Het
Tas2r105 A G 6: 131,663,789 (GRCm39) V213A probably benign Het
Tlr12 C T 4: 128,510,301 (GRCm39) E650K probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trav4-2 T A 14: 53,656,287 (GRCm39) D96E possibly damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vmn2r89 T C 14: 51,689,500 (GRCm39) M1T probably null Het
Wdr20 A G 12: 110,759,950 (GRCm39) T279A probably benign Het
Zfp407 A G 18: 84,577,721 (GRCm39) S1131P possibly damaging Het
Zfyve1 A G 12: 83,641,296 (GRCm39) V120A probably benign Het
Other mutations in Ppp3r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
prokopiy UTSW 11 17,144,786 (GRCm39) missense probably damaging 1.00
R1490:Ppp3r1 UTSW 11 17,148,275 (GRCm39) missense probably benign 0.01
R1782:Ppp3r1 UTSW 11 17,148,281 (GRCm39) missense probably benign 0.03
R2231:Ppp3r1 UTSW 11 17,143,115 (GRCm39) missense probably damaging 1.00
R2232:Ppp3r1 UTSW 11 17,143,115 (GRCm39) missense probably damaging 1.00
R4023:Ppp3r1 UTSW 11 17,144,786 (GRCm39) missense probably damaging 1.00
R4024:Ppp3r1 UTSW 11 17,144,786 (GRCm39) missense probably damaging 1.00
R9106:Ppp3r1 UTSW 11 17,144,789 (GRCm39) missense probably damaging 1.00
R9534:Ppp3r1 UTSW 11 17,132,123 (GRCm39) missense probably benign 0.06
R9792:Ppp3r1 UTSW 11 17,132,117 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGCCATCTTCAGAGTTAGATAGCAC -3'
(R):5'- CTTGAATGTGGGGCAATTAGAC -3'

Sequencing Primer
(F):5'- CTTCAGAGTTAGATAGCACTGTTTTC -3'
(R):5'- TGTGGGGCAATTAGACAAAATTTC -3'
Posted On 2015-04-30