Incidental Mutation 'R5467:Ppp4r3a'
ID 433292
Institutional Source Beutler Lab
Gene Symbol Ppp4r3a
Ensembl Gene ENSMUSG00000041846
Gene Name protein phosphatase 4 regulatory subunit 3A
Synonyms 1110034C04Rik, Smek1
MMRRC Submission 043028-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # R5467 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 101005668-101049961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101009729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 636 (E636G)
Ref Sequence ENSEMBL: ENSMUSP00000041667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095] [ENSMUST00000223091]
AlphaFold Q6P2K6
Predicted Effect probably damaging
Transcript: ENSMUST00000048305
AA Change: E636G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: E636G

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 3e-24 SMART
Pfam:SMK-1 164 357 5.8e-85 PFAM
low complexity region 407 418 N/A INTRINSIC
low complexity region 495 503 N/A INTRINSIC
low complexity region 705 720 N/A INTRINSIC
low complexity region 753 770 N/A INTRINSIC
low complexity region 795 808 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163095
AA Change: E649G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: E649G

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 4e-24 SMART
Pfam:SMK-1 166 357 2.5e-84 PFAM
low complexity region 508 516 N/A INTRINSIC
low complexity region 718 733 N/A INTRINSIC
low complexity region 766 783 N/A INTRINSIC
low complexity region 808 821 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222956
Predicted Effect probably benign
Transcript: ENSMUST00000223091
Predicted Effect unknown
Transcript: ENSMUST00000223459
AA Change: E25G
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,222,991 (GRCm39) M525T possibly damaging Het
Arpc5l T C 2: 38,903,751 (GRCm39) V80A possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bltp3b G T 10: 89,640,961 (GRCm39) G711W probably damaging Het
Celsr3 A T 9: 108,705,836 (GRCm39) D773V probably damaging Het
Clcn6 A T 4: 148,102,093 (GRCm39) H330Q possibly damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Dmbt1 C A 7: 130,642,723 (GRCm39) S180R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elovl7 T C 13: 108,416,156 (GRCm39) V182A probably benign Het
Eml3 G A 19: 8,914,946 (GRCm39) W601* probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fras1 A T 5: 96,927,912 (GRCm39) Y3775F probably benign Het
Gns T C 10: 121,227,351 (GRCm39) W454R probably benign Het
Katnip T C 7: 125,442,527 (GRCm39) F812S possibly damaging Het
Kcnh2 A T 5: 24,531,765 (GRCm39) L40* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrrc37 G T 11: 103,494,091 (GRCm39) C655* probably null Het
Mgl2 T A 11: 70,025,878 (GRCm39) I31N possibly damaging Het
Muc6 T C 7: 141,216,448 (GRCm39) T2677A possibly damaging Het
Ndst1 A G 18: 60,825,093 (GRCm39) S742P probably benign Het
Or10g6 G T 9: 39,933,733 (GRCm39) V15L probably benign Het
Or1o11 G T 17: 37,756,973 (GRCm39) C187F probably damaging Het
Or4d6 A C 19: 12,086,023 (GRCm39) S70A probably benign Het
Or5b112 A T 19: 13,319,521 (GRCm39) Y133F probably damaging Het
Or8g21 T C 9: 38,906,200 (GRCm39) Y177C probably benign Het
Pcdhb22 A G 18: 37,653,188 (GRCm39) D552G probably benign Het
Pikfyve T A 1: 65,291,654 (GRCm39) V1291E probably damaging Het
Prl5a1 A T 13: 28,333,994 (GRCm39) I166L possibly damaging Het
Rb1 T C 14: 73,449,060 (GRCm39) D690G possibly damaging Het
Sh3tc2 A G 18: 62,123,759 (GRCm39) H840R possibly damaging Het
Skida1 T C 2: 18,050,923 (GRCm39) probably benign Het
Slc31a2 A G 4: 62,210,924 (GRCm39) H19R probably damaging Het
Styxl2 C A 1: 165,939,599 (GRCm39) probably null Het
Tnks2 A T 19: 36,859,176 (GRCm39) R314W probably damaging Het
Trak1 A G 9: 121,275,864 (GRCm39) D189G probably damaging Het
Trav13n-4 T A 14: 53,601,303 (GRCm39) V24E probably damaging Het
Ylpm1 T C 12: 85,043,633 (GRCm39) Y124H unknown Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Ppp4r3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ppp4r3a APN 12 101,016,053 (GRCm39) missense probably damaging 1.00
IGL00532:Ppp4r3a APN 12 101,010,912 (GRCm39) missense probably damaging 1.00
IGL01359:Ppp4r3a APN 12 101,024,755 (GRCm39) missense probably damaging 0.99
IGL01873:Ppp4r3a APN 12 101,008,094 (GRCm39) missense possibly damaging 0.86
IGL02676:Ppp4r3a APN 12 101,008,770 (GRCm39) missense probably benign 0.00
IGL02756:Ppp4r3a APN 12 101,024,582 (GRCm39) critical splice donor site probably null
IGL03196:Ppp4r3a APN 12 101,015,913 (GRCm39) splice site probably benign
IGL03206:Ppp4r3a APN 12 101,024,878 (GRCm39) missense probably damaging 1.00
R1101:Ppp4r3a UTSW 12 101,017,830 (GRCm39) missense probably damaging 0.98
R1434:Ppp4r3a UTSW 12 101,009,783 (GRCm39) missense probably damaging 0.99
R1526:Ppp4r3a UTSW 12 101,007,000 (GRCm39) missense probably damaging 0.99
R1554:Ppp4r3a UTSW 12 101,022,081 (GRCm39) missense probably damaging 1.00
R1650:Ppp4r3a UTSW 12 101,010,878 (GRCm39) missense probably damaging 0.99
R1766:Ppp4r3a UTSW 12 101,024,741 (GRCm39) missense probably damaging 0.99
R2152:Ppp4r3a UTSW 12 101,008,826 (GRCm39) missense probably damaging 0.99
R2322:Ppp4r3a UTSW 12 101,008,878 (GRCm39) missense probably damaging 0.98
R2421:Ppp4r3a UTSW 12 101,008,912 (GRCm39) splice site probably benign
R2422:Ppp4r3a UTSW 12 101,008,912 (GRCm39) splice site probably benign
R2859:Ppp4r3a UTSW 12 101,008,906 (GRCm39) critical splice acceptor site probably null
R2884:Ppp4r3a UTSW 12 101,034,936 (GRCm39) missense probably damaging 0.99
R4157:Ppp4r3a UTSW 12 101,021,878 (GRCm39) missense probably damaging 0.97
R4651:Ppp4r3a UTSW 12 101,049,170 (GRCm39) utr 5 prime probably benign
R4652:Ppp4r3a UTSW 12 101,049,170 (GRCm39) utr 5 prime probably benign
R4706:Ppp4r3a UTSW 12 101,008,175 (GRCm39) missense probably damaging 1.00
R4773:Ppp4r3a UTSW 12 101,049,026 (GRCm39) missense possibly damaging 0.93
R4775:Ppp4r3a UTSW 12 101,019,825 (GRCm39) missense probably damaging 0.99
R5634:Ppp4r3a UTSW 12 101,009,780 (GRCm39) missense probably damaging 1.00
R5704:Ppp4r3a UTSW 12 101,049,619 (GRCm39) utr 5 prime probably benign
R5707:Ppp4r3a UTSW 12 101,024,770 (GRCm39) missense probably damaging 1.00
R5935:Ppp4r3a UTSW 12 101,017,872 (GRCm39) missense probably damaging 1.00
R5969:Ppp4r3a UTSW 12 101,009,838 (GRCm39) missense probably benign
R6030:Ppp4r3a UTSW 12 101,024,659 (GRCm39) missense probably damaging 0.97
R6030:Ppp4r3a UTSW 12 101,024,659 (GRCm39) missense probably damaging 0.97
R6630:Ppp4r3a UTSW 12 101,016,035 (GRCm39) missense probably damaging 1.00
R7265:Ppp4r3a UTSW 12 101,019,770 (GRCm39) missense possibly damaging 0.77
R7352:Ppp4r3a UTSW 12 101,008,091 (GRCm39) missense probably damaging 1.00
R7402:Ppp4r3a UTSW 12 101,025,053 (GRCm39) missense possibly damaging 0.94
R7761:Ppp4r3a UTSW 12 101,022,080 (GRCm39) missense probably damaging 0.98
R7808:Ppp4r3a UTSW 12 101,019,755 (GRCm39) missense possibly damaging 0.94
R7811:Ppp4r3a UTSW 12 101,019,821 (GRCm39) missense probably damaging 0.98
R8062:Ppp4r3a UTSW 12 101,008,230 (GRCm39) missense probably damaging 0.98
R8222:Ppp4r3a UTSW 12 101,008,164 (GRCm39) missense probably benign 0.09
R8409:Ppp4r3a UTSW 12 101,008,752 (GRCm39) missense probably benign 0.02
R8435:Ppp4r3a UTSW 12 101,049,048 (GRCm39) missense probably benign 0.19
R8471:Ppp4r3a UTSW 12 101,021,901 (GRCm39) missense probably benign 0.01
R9010:Ppp4r3a UTSW 12 101,024,591 (GRCm39) missense possibly damaging 0.58
R9137:Ppp4r3a UTSW 12 101,021,794 (GRCm39) missense possibly damaging 0.95
R9335:Ppp4r3a UTSW 12 101,007,013 (GRCm39) missense probably damaging 1.00
R9336:Ppp4r3a UTSW 12 101,015,919 (GRCm39) missense probably benign
R9666:Ppp4r3a UTSW 12 101,049,129 (GRCm39) start codon destroyed probably null 0.39
R9752:Ppp4r3a UTSW 12 101,008,763 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGAAGTAAAGAACCAACTCCTG -3'
(R):5'- GTTCCCAGGAGCACCAAAAG -3'

Sequencing Primer
(F):5'- TGCAACTTGTCCTGAGGATACAC -3'
(R):5'- GTCTTAGGAATTACCACAGTATGCC -3'
Posted On 2016-10-06