Incidental Mutation 'R4032:Pabir1'
ID 313563
Institutional Source Beutler Lab
Gene Symbol Pabir1
Ensembl Gene ENSMUSG00000074922
Gene Name PP2A A alpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
Synonyms Gm9849, 2900009I07Rik, Fam122a, 2410124L17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.500) question?
Stock # R4032 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 24453866-24454720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24454106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 205 (M205I)
Ref Sequence ENSEMBL: ENSMUSP00000097152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025800] [ENSMUST00000099556] [ENSMUST00000112673]
AlphaFold Q9DB52
Predicted Effect probably benign
Transcript: ENSMUST00000025800
SMART Domains Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867

PIPKc 53 396 1.1e-159 SMART
low complexity region 472 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099556
AA Change: M205I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097152
Gene: ENSMUSG00000074922
AA Change: M205I

low complexity region 11 32 N/A INTRINSIC
low complexity region 163 187 N/A INTRINSIC
low complexity region 243 254 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112673
SMART Domains Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867

PIPKc 53 396 1.1e-159 SMART
low complexity region 420 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156814
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgap17 G T 7: 122,879,289 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,237,389 (GRCm39) M846L probably damaging Het
Capn5 G T 7: 97,778,453 (GRCm39) Q389K probably damaging Het
Cdkl3 T A 11: 51,902,118 (GRCm39) I109N probably damaging Het
Cry2 T C 2: 92,244,172 (GRCm39) I334V probably benign Het
Cs T C 10: 128,196,913 (GRCm39) L436P probably damaging Het
D17H6S53E T C 17: 35,346,355 (GRCm39) S89P probably benign Het
Dync1h1 C T 12: 110,584,483 (GRCm39) Q629* probably null Het
H4c12 T C 13: 21,934,588 (GRCm39) I30V possibly damaging Het
Itpka C T 2: 119,573,082 (GRCm39) P75S probably benign Het
Lyst C T 13: 13,791,250 (GRCm39) H38Y probably damaging Het
Mansc4 T C 6: 146,976,678 (GRCm39) K313E probably benign Het
Megf6 T A 4: 154,261,550 (GRCm39) C58* probably null Het
Mtor T C 4: 148,621,209 (GRCm39) V1869A probably benign Het
Mybpc1 T C 10: 88,365,426 (GRCm39) D899G probably benign Het
Nek10 C A 14: 14,853,877 (GRCm38) probably null Het
Nfkb1 T C 3: 135,300,110 (GRCm39) S657G possibly damaging Het
Or10d5j T C 9: 39,867,629 (GRCm39) T213A probably benign Het
Or2a25 A T 6: 42,888,559 (GRCm39) Y34F probably benign Het
Or4m1 T A 14: 50,557,767 (GRCm39) D175V possibly damaging Het
Or4n5 G T 14: 50,132,433 (GRCm39) H275Q probably benign Het
Or51f23 A G 7: 102,453,396 (GRCm39) K237R probably benign Het
Pde1b A G 15: 103,429,753 (GRCm39) D82G probably damaging Het
Pdzrn4 C T 15: 92,667,414 (GRCm39) T522M probably damaging Het
Ptpro C A 6: 137,438,740 (GRCm39) N373K probably damaging Het
Ptprs T C 17: 56,720,386 (GRCm39) Y1478C probably damaging Het
Sdc2 A T 15: 33,017,323 (GRCm39) I46F probably damaging Het
Sergef C A 7: 46,092,726 (GRCm39) E428* probably null Het
Stk36 A G 1: 74,665,207 (GRCm39) S651G probably benign Het
Ubr5 A G 15: 38,025,081 (GRCm39) V559A Het
Ugt8a C A 3: 125,667,807 (GRCm39) D345Y probably damaging Het
Usp44 A G 10: 93,683,127 (GRCm39) probably benign Het
Vps13a A T 19: 16,594,263 (GRCm39) L3156Q probably damaging Het
Zfp655 A G 5: 145,180,858 (GRCm39) T239A possibly damaging Het
Zfp87 T C 13: 74,520,449 (GRCm39) T210A possibly damaging Het
Other mutations in Pabir1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Pabir1 APN 19 24,453,996 (GRCm39) missense probably damaging 1.00
IGL01662:Pabir1 APN 19 24,453,948 (GRCm39) missense probably benign 0.00
IGL03070:Pabir1 APN 19 24,454,316 (GRCm39) missense probably damaging 1.00
R6164:Pabir1 UTSW 19 24,454,450 (GRCm39) missense probably benign 0.00
R7301:Pabir1 UTSW 19 24,454,710 (GRCm39) missense probably damaging 1.00
R7301:Pabir1 UTSW 19 24,454,488 (GRCm39) missense probably benign 0.00
R7940:Pabir1 UTSW 19 24,454,552 (GRCm39) missense probably benign 0.41
Z1177:Pabir1 UTSW 19 24,454,167 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-30