Incidental Mutation 'R5877:Ppp4r3b'
ID 455610
Institutional Source Beutler Lab
Gene Symbol Ppp4r3b
Ensembl Gene ENSMUSG00000020463
Gene Name protein phosphatase 4 regulatory subunit 3B
Synonyms Smek2
MMRRC Submission 044083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5877 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 29122890-29170797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29159356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 570 (D570V)
Ref Sequence ENSEMBL: ENSMUSP00000099920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000127621]
AlphaFold Q922R5
Predicted Effect probably damaging
Transcript: ENSMUST00000020755
AA Change: D570V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: D570V

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 2e-24 SMART
low complexity region 116 127 N/A INTRINSIC
Pfam:SMK-1 168 359 3.6e-84 PFAM
low complexity region 511 519 N/A INTRINSIC
low complexity region 800 809 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102856
AA Change: D570V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: D570V

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 2e-25 SMART
low complexity region 116 127 N/A INTRINSIC
Pfam:SMK-1 166 359 3.8e-87 PFAM
low complexity region 511 519 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127621
AA Change: D149V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463
AA Change: D149V

DomainStartEndE-ValueType
low complexity region 90 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127818
Predicted Effect probably benign
Transcript: ENSMUST00000148759
Meta Mutation Damage Score 0.8451 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,822 (GRCm39) H213L probably damaging Het
Alk A G 17: 72,274,521 (GRCm39) W597R probably damaging Het
Ark2n G T 18: 77,730,902 (GRCm39) probably null Het
Ash1l G A 3: 88,888,891 (GRCm39) V257I probably benign Het
Atp9b C T 18: 80,796,004 (GRCm39) V957I probably benign Het
Birc2 A C 9: 7,849,347 (GRCm39) C576G probably damaging Het
Brca2 T C 5: 150,466,686 (GRCm39) M2150T possibly damaging Het
C3ar1 T G 6: 122,827,581 (GRCm39) D212A probably benign Het
Cacna1s T C 1: 136,028,405 (GRCm39) F914S probably damaging Het
Camk1d T C 2: 5,570,476 (GRCm39) I62V probably benign Het
Caskin1 T C 17: 24,724,239 (GRCm39) M1009T possibly damaging Het
Casp2 A G 6: 42,253,571 (GRCm39) probably benign Het
Cd2bp2 T A 7: 126,793,971 (GRCm39) Y106F probably damaging Het
Celsr3 G A 9: 108,722,926 (GRCm39) C2763Y probably damaging Het
Cyp2g1 T G 7: 26,516,065 (GRCm39) L310V possibly damaging Het
Dusp22 G A 13: 30,891,944 (GRCm39) V99M probably damaging Het
Elp1 A T 4: 56,787,807 (GRCm39) W375R probably damaging Het
Fam131b G A 6: 42,297,913 (GRCm39) S92L probably benign Het
Fbxw10 A T 11: 62,748,542 (GRCm39) N390Y probably damaging Het
Flg2 A T 3: 93,110,756 (GRCm39) H928L unknown Het
Gapdhs T C 7: 30,431,772 (GRCm39) T280A probably damaging Het
Hdac11 A G 6: 91,134,524 (GRCm39) K50E probably damaging Het
Hif3a G T 7: 16,785,071 (GRCm39) A181E probably damaging Het
Itgb8 A G 12: 119,166,271 (GRCm39) S87P probably benign Het
Klhl12 T A 1: 134,411,558 (GRCm39) Y302* probably null Het
Lhx1 C A 11: 84,413,065 (GRCm39) D30Y probably damaging Het
Mrpl40 A G 16: 18,691,135 (GRCm39) Y148H probably damaging Het
Myh13 A T 11: 67,244,484 (GRCm39) H1007L possibly damaging Het
Nhlrc2 T C 19: 56,559,016 (GRCm39) I167T probably damaging Het
Nxpe3 A T 16: 55,686,564 (GRCm39) I148K probably damaging Het
Odf2l A G 3: 144,834,771 (GRCm39) probably null Het
Otud7b C T 3: 96,059,277 (GRCm39) R347* probably null Het
P3h4 G T 11: 100,304,843 (GRCm39) H181Q probably benign Het
P4htm T A 9: 108,460,932 (GRCm39) Y180F possibly damaging Het
Pcna-ps2 A G 19: 9,261,463 (GRCm39) I241V probably benign Het
Pcnx2 T C 8: 126,480,467 (GRCm39) S1947G probably damaging Het
Piezo2 T C 18: 63,247,005 (GRCm39) I336V probably benign Het
Plcd1 T C 9: 118,905,240 (GRCm39) D157G probably damaging Het
Plekhm2 A C 4: 141,367,004 (GRCm39) I212S probably damaging Het
Pmvk G T 3: 89,371,676 (GRCm39) C57F probably benign Het
Pole T C 5: 110,480,329 (GRCm39) S91P probably benign Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pxdn T A 12: 30,053,045 (GRCm39) I1074N probably damaging Het
Ralgapa2 A T 2: 146,230,489 (GRCm39) D1025E probably damaging Het
Ralgps1 A G 2: 33,133,640 (GRCm39) probably benign Het
Rasal1 C T 5: 120,817,135 (GRCm39) probably benign Het
Rps2 A T 17: 24,939,890 (GRCm39) probably benign Het
Scn7a G C 2: 66,530,217 (GRCm39) Y709* probably null Het
Skint1 T A 4: 111,878,720 (GRCm39) C217* probably null Het
Slc50a1 T C 3: 89,176,460 (GRCm39) Y82C probably damaging Het
Slc9a4 T C 1: 40,651,423 (GRCm39) V567A probably benign Het
Snx27 A T 3: 94,410,270 (GRCm39) W469R probably damaging Het
Sos2 A G 12: 69,643,569 (GRCm39) L937P probably damaging Het
Ssh1 T C 5: 114,081,181 (GRCm39) T728A probably benign Het
Tnfrsf8 G A 4: 145,019,257 (GRCm39) R193C probably benign Het
Tut4 T C 4: 108,370,120 (GRCm39) V673A probably damaging Het
Usp33 T A 3: 152,085,113 (GRCm39) M583K possibly damaging Het
Usp33 G A 3: 152,085,233 (GRCm39) C623Y probably damaging Het
Wdfy3 T C 5: 102,017,855 (GRCm39) I2562V probably damaging Het
Wnk2 T C 13: 49,220,782 (GRCm39) D1175G probably damaging Het
Zfp341 G A 2: 154,474,209 (GRCm39) E338K probably damaging Het
Zfp398 A G 6: 47,817,638 (GRCm39) probably benign Het
Zp2 T A 7: 119,732,562 (GRCm39) K661N probably null Het
Other mutations in Ppp4r3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Ppp4r3b APN 11 29,161,782 (GRCm39) missense possibly damaging 0.64
IGL00593:Ppp4r3b APN 11 29,147,205 (GRCm39) missense possibly damaging 0.88
IGL01109:Ppp4r3b APN 11 29,138,288 (GRCm39) missense probably damaging 0.97
IGL01311:Ppp4r3b APN 11 29,144,591 (GRCm39) missense probably benign
IGL01397:Ppp4r3b APN 11 29,163,594 (GRCm39) missense probably benign 0.05
IGL01546:Ppp4r3b APN 11 29,159,488 (GRCm39) splice site probably null
IGL02588:Ppp4r3b APN 11 29,148,853 (GRCm39) nonsense probably null
IGL02713:Ppp4r3b APN 11 29,138,445 (GRCm39) missense probably damaging 0.98
IGL02717:Ppp4r3b APN 11 29,123,315 (GRCm39) missense probably benign 0.01
brando UTSW 11 29,161,667 (GRCm39) missense probably benign
Debatable UTSW 11 29,159,436 (GRCm39) missense possibly damaging 0.86
Kindness UTSW 11 29,123,449 (GRCm39) critical splice donor site probably null
Maris UTSW 11 29,159,356 (GRCm39) missense probably damaging 1.00
Stella UTSW 11 29,146,290 (GRCm39) missense probably null
PIT1430001:Ppp4r3b UTSW 11 29,159,434 (GRCm39) missense probably benign 0.04
PIT4677001:Ppp4r3b UTSW 11 29,137,978 (GRCm39) missense probably benign
R0766:Ppp4r3b UTSW 11 29,123,358 (GRCm39) missense probably benign 0.16
R1170:Ppp4r3b UTSW 11 29,159,426 (GRCm39) missense probably damaging 0.99
R1312:Ppp4r3b UTSW 11 29,123,358 (GRCm39) missense probably benign 0.16
R1511:Ppp4r3b UTSW 11 29,132,460 (GRCm39) missense probably damaging 1.00
R1692:Ppp4r3b UTSW 11 29,138,123 (GRCm39) missense probably benign 0.02
R1699:Ppp4r3b UTSW 11 29,163,765 (GRCm39) missense possibly damaging 0.52
R2303:Ppp4r3b UTSW 11 29,150,741 (GRCm39) missense possibly damaging 0.79
R2339:Ppp4r3b UTSW 11 29,150,725 (GRCm39) missense possibly damaging 0.65
R4378:Ppp4r3b UTSW 11 29,159,450 (GRCm39) missense possibly damaging 0.72
R4940:Ppp4r3b UTSW 11 29,161,740 (GRCm39) missense probably benign
R5256:Ppp4r3b UTSW 11 29,138,293 (GRCm39) missense probably benign 0.22
R5266:Ppp4r3b UTSW 11 29,123,309 (GRCm39) missense possibly damaging 0.63
R5286:Ppp4r3b UTSW 11 29,161,667 (GRCm39) missense probably benign
R5354:Ppp4r3b UTSW 11 29,161,646 (GRCm39) missense probably benign 0.26
R6364:Ppp4r3b UTSW 11 29,138,035 (GRCm39) missense probably benign 0.00
R6539:Ppp4r3b UTSW 11 29,168,503 (GRCm39) missense probably benign 0.00
R6773:Ppp4r3b UTSW 11 29,155,639 (GRCm39) missense probably benign 0.02
R6931:Ppp4r3b UTSW 11 29,161,786 (GRCm39) missense possibly damaging 0.88
R7051:Ppp4r3b UTSW 11 29,132,507 (GRCm39) missense probably damaging 1.00
R7176:Ppp4r3b UTSW 11 29,148,904 (GRCm39) missense probably damaging 1.00
R7569:Ppp4r3b UTSW 11 29,138,540 (GRCm39) missense possibly damaging 0.91
R7741:Ppp4r3b UTSW 11 29,155,701 (GRCm39) missense possibly damaging 0.78
R7746:Ppp4r3b UTSW 11 29,123,352 (GRCm39) missense probably benign 0.00
R7810:Ppp4r3b UTSW 11 29,138,086 (GRCm39) missense probably benign 0.02
R8129:Ppp4r3b UTSW 11 29,159,364 (GRCm39) missense probably damaging 1.00
R8680:Ppp4r3b UTSW 11 29,123,449 (GRCm39) critical splice donor site probably null
R8685:Ppp4r3b UTSW 11 29,159,436 (GRCm39) missense possibly damaging 0.86
R8910:Ppp4r3b UTSW 11 29,146,290 (GRCm39) missense probably null
R8928:Ppp4r3b UTSW 11 29,144,598 (GRCm39) missense probably benign 0.00
R8947:Ppp4r3b UTSW 11 29,150,758 (GRCm39) missense possibly damaging 0.63
R8954:Ppp4r3b UTSW 11 29,155,669 (GRCm39) missense possibly damaging 0.64
R8991:Ppp4r3b UTSW 11 29,123,306 (GRCm39) start codon destroyed probably damaging 1.00
R9068:Ppp4r3b UTSW 11 29,159,396 (GRCm39) missense probably benign 0.01
R9225:Ppp4r3b UTSW 11 29,155,648 (GRCm39) missense possibly damaging 0.95
R9417:Ppp4r3b UTSW 11 29,144,598 (GRCm39) missense probably benign 0.00
R9487:Ppp4r3b UTSW 11 29,124,697 (GRCm39) missense probably damaging 1.00
R9635:Ppp4r3b UTSW 11 29,138,113 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGCTCCAAGTATTACTAGCAGGAG -3'
(R):5'- GCATTCAACCATCAACCGTG -3'

Sequencing Primer
(F):5'- GAGCCAAGCCAGTTGTCATTC -3'
(R):5'- TCAACCATCAACCGTGTATAAGTAAG -3'
Posted On 2017-02-10