Incidental Mutation 'R9417:Ppp4r3b'
ID 712122
Institutional Source Beutler Lab
Gene Symbol Ppp4r3b
Ensembl Gene ENSMUSG00000020463
Gene Name protein phosphatase 4 regulatory subunit 3B
Synonyms Smek2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9417 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 29122890-29170797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29144598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 316 (V316A)
Ref Sequence ENSEMBL: ENSMUSP00000020755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000127621]
AlphaFold Q922R5
Predicted Effect probably benign
Transcript: ENSMUST00000020755
AA Change: V316A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: V316A

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 benign
Transcript: ENSMUST00000102856
AA Change: V316A

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: V316A

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 benign
Transcript: ENSMUST00000127621
SMART Domains Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463

DomainStartEndE-ValueType
low complexity region 90 98 N/A INTRINSIC
Meta Mutation Damage Score 0.1038 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik A G 4: 88,786,202 (GRCm39) Y139H unknown Het
Akr1b10 T C 6: 34,371,027 (GRCm39) V259A probably benign Het
Aldh5a1 A T 13: 25,095,673 (GRCm39) N481K probably damaging Het
Ankrd26 A T 6: 118,504,725 (GRCm39) M728K possibly damaging Het
Asic1 A G 15: 99,590,405 (GRCm39) M52V probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cacna2d2 C A 9: 107,392,689 (GRCm39) Y544* probably null Het
Cdcp3 A G 7: 130,852,218 (GRCm39) D818G possibly damaging Het
Chd4 A G 6: 125,097,688 (GRCm39) N1403S probably damaging Het
Cldn4 G T 5: 134,975,174 (GRCm39) N142K probably benign Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Dll1 T C 17: 15,593,710 (GRCm39) Y219C probably damaging Het
Dnah2 T A 11: 69,326,990 (GRCm39) I3539F probably damaging Het
Egfr T A 11: 16,825,067 (GRCm39) L469* probably null Het
Elmo1 A G 13: 20,756,573 (GRCm39) N554D possibly damaging Het
Fam234a A C 17: 26,435,225 (GRCm39) F306L probably benign Het
Fbl G A 7: 27,874,052 (GRCm39) G45D unknown Het
Fbxw10 C A 11: 62,753,522 (GRCm39) C505* probably null Het
Ftcd G A 10: 76,417,153 (GRCm39) G221S probably damaging Het
Gad1 A G 2: 70,417,716 (GRCm39) D305G possibly damaging Het
Gdpd4 A G 7: 97,607,074 (GRCm39) D16G probably benign Het
Gsdmc3 T A 15: 63,738,663 (GRCm39) D133V possibly damaging Het
Hpdl T C 4: 116,677,817 (GRCm39) T215A possibly damaging Het
Ift56 T C 6: 38,386,386 (GRCm39) F369S probably damaging Het
Igsf10 A T 3: 59,236,526 (GRCm39) N1218K possibly damaging Het
Isg20 C T 7: 78,569,605 (GRCm39) P192L probably benign Het
Itga7 C T 10: 128,793,543 (GRCm39) T126M unknown Het
Krr1 A G 10: 111,813,026 (GRCm39) I134V probably benign Het
Krt71 T A 15: 101,646,731 (GRCm39) T326S probably benign Het
Lamb1 T A 12: 31,337,983 (GRCm39) V480E probably damaging Het
Mmp19 T A 10: 128,630,523 (GRCm39) L102Q possibly damaging Het
Mtor T A 4: 148,622,776 (GRCm39) L1952* probably null Het
Myo15a T A 11: 60,378,243 (GRCm39) V215E Het
Nfs1 T A 2: 155,965,851 (GRCm39) K77* probably null Het
Or52s1 A T 7: 102,861,156 (GRCm39) I30F possibly damaging Het
Or9a4 T A 6: 40,549,096 (GRCm39) Y259N Het
Pcdhga4 T C 18: 37,820,560 (GRCm39) F703S probably damaging Het
Pdzd7 A G 19: 45,034,022 (GRCm39) S21P probably damaging Het
Pitrm1 A T 13: 6,617,394 (GRCm39) I583F possibly damaging Het
Ppox A G 1: 171,107,855 (GRCm39) L77P unknown Het
Ppp1r37 G T 7: 19,269,658 (GRCm39) R114S probably damaging Het
Ptprd A G 4: 75,865,335 (GRCm39) I1214T probably damaging Het
Rasal3 A G 17: 32,615,441 (GRCm39) F466L probably benign Het
Ric8b A T 10: 84,761,447 (GRCm39) D41V probably benign Het
Rin2 T C 2: 145,686,713 (GRCm39) S81P probably benign Het
Sft2d1 T A 17: 8,542,139 (GRCm39) C128S probably damaging Het
Skint1 T C 4: 111,878,509 (GRCm39) V147A probably benign Het
Slc9c1 T C 16: 45,413,848 (GRCm39) V992A probably benign Het
Sst A G 16: 23,708,487 (GRCm39) S115P probably damaging Het
Sv2b G T 7: 74,769,772 (GRCm39) S590Y probably damaging Het
Syne1 C T 10: 5,082,021 (GRCm39) V868I probably benign Het
Tex35 T C 1: 156,934,789 (GRCm39) I42V possibly damaging Het
Tlr2 T C 3: 83,744,892 (GRCm39) N397S probably damaging Het
Tmem202 A G 9: 59,431,999 (GRCm39) probably null Het
Usp20 A G 2: 30,873,030 (GRCm39) probably null Het
Usp32 C T 11: 84,885,369 (GRCm39) R1226Q probably damaging Het
Usp47 C T 7: 111,688,801 (GRCm39) A736V possibly damaging Het
Vmn2r-ps117 T A 17: 19,044,037 (GRCm39) L371* probably null Het
Wwp1 T A 4: 19,662,215 (GRCm39) N127Y possibly damaging Het
Yae1d1 A T 13: 18,167,770 (GRCm39) V41D probably damaging Het
Zbtb8b T C 4: 129,326,517 (GRCm39) D216G probably benign Het
Zfp462 T C 4: 55,016,988 (GRCm39) S903P probably benign Het
Zranb1 G A 7: 132,585,466 (GRCm39) G638D probably 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
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
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
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'- TGAGTGTGTCTTAGCAGGGAAC -3'
(R):5'- ACTTGATGCCTCCTAAAACCTC -3'

Sequencing Primer
(F):5'- GTAGCAGTTCTCAGAAAACACTG -3'
(R):5'- TGCCTCCTAAAACCTCTTTATAAATG -3'
Posted On 2022-05-16