Incidental Mutation 'IGL00325:Ppp1r35'
ID6387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r35
Ensembl Gene ENSMUSG00000029725
Gene Nameprotein phosphatase 1, regulatory subunit 35
Synonyms2010007H12Rik, 2010011D20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00325
Quality Score
Status
Chromosome5
Chromosomal Location137778849-137780110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 137779537 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 155 (V155E)
Ref Sequence ENSEMBL: ENSMUSP00000031739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031739] [ENSMUST00000031740] [ENSMUST00000196022] [ENSMUST00000198929]
Predicted Effect probably damaging
Transcript: ENSMUST00000031739
AA Change: V155E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031739
Gene: ENSMUSG00000029725
AA Change: V155E

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
low complexity region 57 76 N/A INTRINSIC
Pfam:PPP1R35_C 107 255 1.5e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031740
SMART Domains Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726

DomainStartEndE-ValueType
low complexity region 14 19 N/A INTRINSIC
low complexity region 49 74 N/A INTRINSIC
low complexity region 115 121 N/A INTRINSIC
low complexity region 130 136 N/A INTRINSIC
low complexity region 234 254 N/A INTRINSIC
low complexity region 307 352 N/A INTRINSIC
low complexity region 355 376 N/A INTRINSIC
Pfam:Methyltransf_23 398 623 2.7e-14 PFAM
Pfam:PrmA 408 489 6.9e-6 PFAM
Pfam:Methyltransf_31 419 480 9.3e-9 PFAM
Pfam:Methyltransf_18 420 595 1.8e-13 PFAM
Pfam:Bin3 552 660 4.2e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000126126
AA Change: V95E
SMART Domains Protein: ENSMUSP00000114480
Gene: ENSMUSG00000029725
AA Change: V95E

DomainStartEndE-ValueType
Pfam:PPP1R35_C 48 144 2.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132726
SMART Domains Protein: ENSMUSP00000118688
Gene: ENSMUSG00000029726

DomainStartEndE-ValueType
Pfam:Methyltransf_11 33 99 8e-6 PFAM
Pfam:Bin3 59 167 8.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152298
Predicted Effect probably benign
Transcript: ENSMUST00000196022
Predicted Effect unknown
Transcript: ENSMUST00000198929
AA Change: V34E
SMART Domains Protein: ENSMUSP00000143182
Gene: ENSMUSG00000029725
AA Change: V34E

DomainStartEndE-ValueType
low complexity region 66 77 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,882,691 S431P possibly damaging Het
Arid1b C A 17: 5,337,110 R1613S possibly damaging Het
Atxn2l T C 7: 126,498,288 D196G possibly damaging Het
Bag3 C A 7: 128,546,341 T560K probably benign Het
BC051076 A G 5: 87,964,495 probably benign Het
Becn1 A T 11: 101,295,622 M18K probably benign Het
C130050O18Rik G A 5: 139,414,738 C182Y probably damaging Het
Cfap43 A G 19: 47,823,188 probably benign Het
Cfap97 C T 8: 46,170,185 S204L probably damaging Het
Gaa A G 11: 119,274,960 T100A probably benign Het
Gab2 C T 7: 97,299,258 P352S probably damaging Het
Gckr T A 5: 31,307,767 I360N possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gulo G T 14: 66,005,949 A40D probably damaging Het
Irs1 T C 1: 82,288,483 I671V probably benign Het
Itgax T C 7: 128,148,309 V1028A possibly damaging Het
Lamb3 T C 1: 193,320,447 C67R probably damaging Het
Mpdz A T 4: 81,317,631 V1237E probably damaging Het
Nat8 C T 6: 85,830,597 V185M probably benign Het
Ninj2 A C 6: 120,198,062 T65P probably benign Het
Nrg2 T C 18: 36,021,218 M549V probably benign Het
Nwd2 A G 5: 63,805,475 M801V probably benign Het
Pde8b T C 13: 95,034,367 D589G probably damaging Het
Prss36 T A 7: 127,944,927 probably benign Het
Raver2 A G 4: 101,102,868 K182E probably damaging Het
Ring1 T G 17: 34,023,009 E142A possibly damaging Het
Sidt2 T A 9: 45,942,236 M689L possibly damaging Het
Slc45a4 A G 15: 73,587,655 V95A probably damaging Het
Ssc5d T C 7: 4,944,481 V1278A possibly damaging Het
Stk36 A T 1: 74,634,702 K1251N possibly damaging Het
Utp14b T A 1: 78,664,545 S53R probably damaging Het
Vmn2r17 A T 5: 109,427,992 E243V probably benign Het
Other mutations in Ppp1r35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Ppp1r35 APN 5 137780031 unclassified probably benign
R2091:Ppp1r35 UTSW 5 137779894 missense possibly damaging 0.61
R2155:Ppp1r35 UTSW 5 137780005 missense probably benign 0.01
R5249:Ppp1r35 UTSW 5 137779144 unclassified probably benign
R5264:Ppp1r35 UTSW 5 137780024 unclassified probably benign
R7436:Ppp1r35 UTSW 5 137780017 nonsense probably null
R8206:Ppp1r35 UTSW 5 137780034 missense unknown
Z1177:Ppp1r35 UTSW 5 137778943 unclassified probably benign
Posted On2012-04-20