Incidental Mutation 'R4378:Ppp4r3b'
ID 325206
Institutional Source Beutler Lab
Gene Symbol Ppp4r3b
Ensembl Gene ENSMUSG00000020463
Gene Name protein phosphatase 4 regulatory subunit 3B
Synonyms Smek2
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 29122890-29170797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29159450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 180 (N180K)
Ref Sequence ENSEMBL: ENSMUSP00000117918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000127621]
AlphaFold Q922R5
Predicted Effect possibly damaging
Transcript: ENSMUST00000020755
AA Change: N601K

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: N601K

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 possibly damaging
Transcript: ENSMUST00000102856
AA Change: N601K

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: N601K

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 possibly damaging
Transcript: ENSMUST00000127621
AA Change: N180K

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463
AA Change: N180K

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 0.6509 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly damaging 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
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
R5877:Ppp4r3b UTSW 11 29,159,356 (GRCm39) missense probably damaging 1.00
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'- TTAGCATTCAACCATCAACCGTG -3'

Sequencing Primer
(F):5'- GAGCCAAGCCAGTTGTCATTC -3'
(R):5'- TCAACCATCAACCGTGTATAAGTAAG -3'
Posted On 2015-07-06