Incidental Mutation 'IGL00429:Ppfibp2'
ID5154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppfibp2
Ensembl Gene ENSMUSG00000036528
Gene NamePTPRF interacting protein, binding protein 2 (liprin beta 2)
SynonymsCclp1, liprin beta 2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00429
Quality Score
Status
Chromosome7
Chromosomal Location107595207-107748583 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107697594 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 172 (T172A)
Ref Sequence ENSEMBL: ENSMUSP00000146889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134] [ENSMUST00000208956]
Predicted Effect probably benign
Transcript: ENSMUST00000040056
AA Change: T172A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: T172A

DomainStartEndE-ValueType
Pfam:Integrase_DNA 192 256 3.4e-24 PFAM
low complexity region 357 374 N/A INTRINSIC
SAM 561 628 1.86e-12 SMART
SAM 633 699 4.07e-9 SMART
SAM 721 793 9.22e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098134
AA Change: T172A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: T172A

DomainStartEndE-ValueType
PDB:3QH9|A 185 265 2e-26 PDB
low complexity region 357 374 N/A INTRINSIC
SAM 550 617 1.86e-12 SMART
SAM 622 688 4.07e-9 SMART
SAM 710 782 9.22e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208956
AA Change: T172A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Hist1h2bm T C 13: 21,722,140 S15P possibly damaging Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Mab21l1 A C 3: 55,783,136 Q48P probably damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mre11a T C 9: 14,802,813 F237L probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mylip C A 13: 45,408,567 P282T probably benign Het
Mymk T C 2: 27,062,787 Y103C probably damaging Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Ppfibp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Ppfibp2 APN 7 107708805 missense probably damaging 1.00
IGL00785:Ppfibp2 APN 7 107737887 missense probably benign
IGL00821:Ppfibp2 APN 7 107729876 missense probably damaging 1.00
IGL01295:Ppfibp2 APN 7 107747539 unclassified probably benign
IGL01361:Ppfibp2 APN 7 107744301 splice site probably null
IGL02115:Ppfibp2 APN 7 107739318 unclassified probably benign
IGL02323:Ppfibp2 APN 7 107738629 missense probably damaging 1.00
IGL02458:Ppfibp2 APN 7 107742964 missense probably damaging 1.00
IGL02731:Ppfibp2 APN 7 107746422 missense possibly damaging 0.92
IGL03343:Ppfibp2 APN 7 107737919 nonsense probably null
R0142:Ppfibp2 UTSW 7 107744177 missense probably damaging 1.00
R0555:Ppfibp2 UTSW 7 107729174 missense probably damaging 1.00
R0630:Ppfibp2 UTSW 7 107738599 critical splice acceptor site probably null
R1374:Ppfibp2 UTSW 7 107685988 splice site probably benign
R1668:Ppfibp2 UTSW 7 107729892 missense probably damaging 1.00
R1731:Ppfibp2 UTSW 7 107740589 missense probably damaging 1.00
R1830:Ppfibp2 UTSW 7 107637297 missense probably damaging 1.00
R1902:Ppfibp2 UTSW 7 107746378 missense probably damaging 1.00
R2061:Ppfibp2 UTSW 7 107739230 missense probably damaging 1.00
R2929:Ppfibp2 UTSW 7 107697651 missense probably damaging 0.99
R3777:Ppfibp2 UTSW 7 107729189 missense probably benign 0.00
R3778:Ppfibp2 UTSW 7 107729189 missense probably benign 0.00
R4839:Ppfibp2 UTSW 7 107742985 missense probably damaging 1.00
R4879:Ppfibp2 UTSW 7 107729183 missense probably benign 0.01
R5643:Ppfibp2 UTSW 7 107737890 missense probably damaging 1.00
R5773:Ppfibp2 UTSW 7 107685872 missense possibly damaging 0.74
R6255:Ppfibp2 UTSW 7 107681762 missense probably damaging 0.96
R6356:Ppfibp2 UTSW 7 107681769 missense probably benign 0.01
R6843:Ppfibp2 UTSW 7 107727731 missense probably benign 0.00
R6889:Ppfibp2 UTSW 7 107737981 missense possibly damaging 0.94
R7051:Ppfibp2 UTSW 7 107717718 missense probably damaging 1.00
R7194:Ppfibp2 UTSW 7 107722980 critical splice donor site probably null
R7654:Ppfibp2 UTSW 7 107738611 missense probably damaging 0.99
R7678:Ppfibp2 UTSW 7 107716666 missense probably damaging 0.98
R7895:Ppfibp2 UTSW 7 107721317 splice site probably null
R8385:Ppfibp2 UTSW 7 107697687 missense probably benign 0.44
R8434:Ppfibp2 UTSW 7 107728750 critical splice donor site unknown
RF022:Ppfibp2 UTSW 7 107697610 missense probably damaging 1.00
Z1177:Ppfibp2 UTSW 7 107743050 missense possibly damaging 0.85
Posted On2012-04-20