Incidental Mutation 'IGL02680:Ppp1r21'
ID303328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r21
Ensembl Gene ENSMUSG00000034709
Gene Nameprotein phosphatase 1, regulatory subunit 21
SynonymsKlraq1, 1110018J12Rik, Ccdc128
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.393) question?
Stock #IGL02680
Quality Score
Status
Chromosome17
Chromosomal Location88530118-88588367 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88583862 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 732 (M732V)
Ref Sequence ENSEMBL: ENSMUSP00000048443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038551]
Predicted Effect probably benign
Transcript: ENSMUST00000038551
AA Change: M732V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000048443
Gene: ENSMUSG00000034709
AA Change: M732V

DomainStartEndE-ValueType
KLRAQ 11 112 8.01e-51 SMART
coiled coil region 136 211 N/A INTRINSIC
Pfam:TTKRSYEDQ 255 771 1.8e-273 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190136
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,949 probably benign Het
Aldh1a3 C A 7: 66,406,147 V299F probably damaging Het
Ankar A G 1: 72,670,116 Y747H probably damaging Het
Armc9 T C 1: 86,252,278 I107T probably damaging Het
Atmin A T 8: 116,957,497 D632V probably damaging Het
Atp5h C A 11: 115,416,014 probably null Het
Cadps2 T C 6: 23,838,896 E81G probably damaging Het
Cep162 A G 9: 87,246,744 V67A possibly damaging Het
Cfap100 C T 6: 90,412,235 V335I probably benign Het
Dmtf1 A T 5: 9,130,381 D181E probably benign Het
Efcab14 T A 4: 115,740,418 I70N probably damaging Het
Frzb T C 2: 80,424,626 T189A possibly damaging Het
Fstl3 G A 10: 79,778,672 W69* probably null Het
Gjb3 C T 4: 127,326,022 C239Y probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Inpp5d A G 1: 87,701,483 T397A possibly damaging Het
Myh11 G T 16: 14,209,520 H1283Q probably benign Het
Naip6 A G 13: 100,283,748 V1338A probably benign Het
Obscn A G 11: 59,000,020 S7229P unknown Het
Olfr364-ps1 A T 2: 37,146,415 I68F probably damaging Het
Pfkp G A 13: 6,600,672 probably benign Het
Pop1 T A 15: 34,502,473 I102K probably damaging Het
Rsc1a1 A G 4: 141,685,097 V168A probably benign Het
Scd2 G A 19: 44,301,246 V227I probably benign Het
Scn10a T A 9: 119,666,059 Y372F probably damaging Het
Slc35c2 G T 2: 165,282,135 T94K probably damaging Het
Slc41a2 A G 10: 83,283,864 Y345H probably benign Het
Slc5a11 T C 7: 123,265,631 S387P probably damaging Het
Smg7 T A 1: 152,845,394 N727I probably benign Het
Steap2 A T 5: 5,673,474 F469I probably benign Het
Tex2 T A 11: 106,568,232 probably benign Het
Tmem79 A G 3: 88,332,963 L226P probably damaging Het
Tnfrsf14 G T 4: 154,924,470 C165* probably null Het
Trim21 A G 7: 102,559,663 V283A probably benign Het
Vmn2r16 A T 5: 109,340,082 M274L probably benign Het
Other mutations in Ppp1r21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Ppp1r21 APN 17 88562102 splice site probably benign
IGL02366:Ppp1r21 APN 17 88547662 missense probably damaging 0.99
IGL02604:Ppp1r21 APN 17 88572743 missense probably benign 0.00
R0266:Ppp1r21 UTSW 17 88569072 splice site probably benign
R0436:Ppp1r21 UTSW 17 88565689 missense possibly damaging 0.96
R1398:Ppp1r21 UTSW 17 88542879 missense probably damaging 1.00
R1472:Ppp1r21 UTSW 17 88558605 missense probably damaging 1.00
R1599:Ppp1r21 UTSW 17 88572627 missense probably benign 0.00
R1677:Ppp1r21 UTSW 17 88550669 missense probably benign 0.04
R1760:Ppp1r21 UTSW 17 88562225 missense possibly damaging 0.78
R2571:Ppp1r21 UTSW 17 88545382 missense probably benign 0.06
R3700:Ppp1r21 UTSW 17 88582454 missense possibly damaging 0.88
R3786:Ppp1r21 UTSW 17 88577127 splice site probably null
R3959:Ppp1r21 UTSW 17 88549816 missense probably damaging 1.00
R4649:Ppp1r21 UTSW 17 88549513 missense probably benign
R4654:Ppp1r21 UTSW 17 88558799 missense probably benign 0.01
R4724:Ppp1r21 UTSW 17 88555591 nonsense probably null
R4766:Ppp1r21 UTSW 17 88572615 missense probably benign 0.00
R4933:Ppp1r21 UTSW 17 88547621 missense probably benign 0.07
R4934:Ppp1r21 UTSW 17 88545375 missense probably damaging 1.00
R4934:Ppp1r21 UTSW 17 88545376 missense probably damaging 0.98
R4992:Ppp1r21 UTSW 17 88569080 missense probably benign 0.44
R5109:Ppp1r21 UTSW 17 88558840 missense probably damaging 1.00
R5372:Ppp1r21 UTSW 17 88550675 missense probably benign 0.21
R5861:Ppp1r21 UTSW 17 88582509 missense probably damaging 1.00
R6200:Ppp1r21 UTSW 17 88569185 missense possibly damaging 0.65
R6369:Ppp1r21 UTSW 17 88582412 splice site probably null
R7060:Ppp1r21 UTSW 17 88580544 missense probably damaging 1.00
R7154:Ppp1r21 UTSW 17 88554886 missense probably damaging 0.99
R7390:Ppp1r21 UTSW 17 88549530 missense probably benign 0.26
R7470:Ppp1r21 UTSW 17 88562221 missense probably damaging 1.00
R7475:Ppp1r21 UTSW 17 88555603 missense probably benign 0.07
R7657:Ppp1r21 UTSW 17 88555682 missense probably damaging 1.00
R8021:Ppp1r21 UTSW 17 88549507 missense probably benign 0.00
R8081:Ppp1r21 UTSW 17 88558844 missense probably damaging 1.00
Posted On2015-04-16