Incidental Mutation 'R2231:Ppp3r1'
ID 240047
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 040232-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2231 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 17109298-17150380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17143115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 68 (G68R)
Ref Sequence ENSEMBL: ENSMUSP00000099944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102880]
AlphaFold Q63810
Predicted Effect probably damaging
Transcript: ENSMUST00000102880
AA Change: G68R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099944
Gene: ENSMUSG00000033953
AA Change: G68R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,739,440 (GRCm39) R336W probably damaging Het
Alkbh6 G A 7: 30,012,015 (GRCm39) probably null Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Arsa T C 15: 89,359,925 (GRCm39) M1V probably null Het
Cblb T A 16: 52,014,635 (GRCm39) S895T probably benign Het
Cdk8 A T 5: 146,168,414 (GRCm39) probably benign Het
Coch G A 12: 51,649,648 (GRCm39) V320I probably benign Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Eif2b5 T C 16: 20,323,520 (GRCm39) Y424H probably benign Het
Enoph1 C T 5: 100,188,136 (GRCm39) T20I probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Myl3 T C 9: 110,596,979 (GRCm39) L113P probably damaging Het
Nup153 A G 13: 46,863,103 (GRCm39) probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or5b12b A G 19: 12,861,313 (GRCm39) I23V probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plekhd1 T C 12: 80,768,725 (GRCm39) F403L possibly damaging Het
Pou5f1 A G 17: 35,820,959 (GRCm39) T134A probably benign Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sacs A G 14: 61,443,378 (GRCm39) probably null Het
Sbno1 A T 5: 124,543,767 (GRCm39) D257E probably damaging Het
Scn10a T C 9: 119,462,916 (GRCm39) E1040G possibly damaging Het
Sgce T C 6: 4,730,066 (GRCm39) K53E probably benign Het
Slc6a11 A G 6: 114,171,590 (GRCm39) T254A probably damaging Het
Spag1 A G 15: 36,191,313 (GRCm39) Y180C probably benign Het
Ssna1 G T 2: 25,162,019 (GRCm39) N58K possibly damaging Het
Tbx3 C A 5: 119,815,589 (GRCm39) N296K probably damaging Het
Tcerg1 A G 18: 42,657,309 (GRCm39) T264A unknown Het
Trdmt1 A T 2: 13,530,436 (GRCm39) F82I probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp33 C T 3: 152,079,023 (GRCm39) A425V probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging Het
Zw10 C T 9: 48,975,421 (GRCm39) T282M possibly damaging 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
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
R4026: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'- TTTTGCCCTAGAGCATCGGATTG -3'
(R):5'- TAGATACCCTGATCATTTACCAAGC -3'

Sequencing Primer
(F):5'- CGGATTGAAAATTAAAGTTTTGCTGC -3'
(R):5'- TACCCTGATCATTTACCAAGCAAAAG -3'
Posted On 2014-10-15