Incidental Mutation 'R6030:Ppp4r3a'
ID 480355
Institutional Source Beutler Lab
Gene Symbol Ppp4r3a
Ensembl Gene ENSMUSG00000041846
Gene Name protein phosphatase 4 regulatory subunit 3A
Synonyms 1110034C04Rik, Smek1
MMRRC Submission 044202-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # R6030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 101005668-101049961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101024659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 280 (V280A)
Ref Sequence ENSEMBL: ENSMUSP00000129654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095]
AlphaFold Q6P2K6
Predicted Effect probably damaging
Transcript: ENSMUST00000048305
AA Change: V280A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: V280A

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 probably damaging
Transcript: ENSMUST00000163095
AA Change: V280A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: V280A

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: ENSMUST00000223161
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.1%
  • 20x: 86.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Agap1 A G 1: 89,558,156 (GRCm39) D148G probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cast A G 13: 74,844,056 (GRCm39) S693P possibly damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Crkl A G 16: 17,270,604 (GRCm39) Y88C probably damaging Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Gpx6 C T 13: 21,496,510 (GRCm39) S28L probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Osbpl7 A C 11: 96,943,087 (GRCm39) H113P probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Slc8b1 T C 5: 120,657,985 (GRCm39) probably null Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null 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
R5467:Ppp4r3a UTSW 12 101,009,729 (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
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
Posted On 2017-06-26