Incidental Mutation 'IGL01361:Ppfibp2'
ID 75755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppfibp2
Ensembl Gene ENSMUSG00000036528
Gene Name PTPRF interacting protein, binding protein 2 (liprin beta 2)
Synonyms liprin beta 2, Cclp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01361
Quality Score
Status
Chromosome 7
Chromosomal Location 107194414-107347790 bp(+) (GRCm39)
Type of Mutation splice site (4154 bp from exon)
DNA Base Change (assembly) T to C at 107343508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000052438] [ENSMUST00000098134] [ENSMUST00000208159]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040056
AA Change: V860A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: V860A

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 null
Transcript: ENSMUST00000052438
SMART Domains Protein: ENSMUSP00000050061
Gene: ENSMUSG00000048065

DomainStartEndE-ValueType
Pfam:FAD_binding_6 19 126 5e-37 PFAM
Pfam:NAD_binding_6 163 242 9.7e-8 PFAM
Pfam:NAD_binding_1 168 276 6.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098134
AA Change: V849A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: V849A

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: ENSMUST00000208159
AA Change: V105A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,546,706 (GRCm39) probably benign Het
C1qtnf3 G A 15: 10,960,768 (GRCm39) G157D probably damaging Het
Cacna1b T C 2: 24,569,107 (GRCm39) E940G possibly damaging Het
Camta1 A G 4: 151,229,149 (GRCm39) L561P probably damaging Het
Car15 T C 16: 17,655,718 (GRCm39) Y27C probably damaging Het
Catsper1 G T 19: 5,389,507 (GRCm39) S474I probably damaging Het
Cps1 A G 1: 67,234,304 (GRCm39) D897G probably benign Het
Crtc1 A G 8: 70,840,253 (GRCm39) L540P probably damaging Het
Fdps A G 3: 89,001,749 (GRCm39) probably benign Het
Gprc6a A G 10: 51,491,526 (GRCm39) I741T probably damaging Het
Hdac7 A C 15: 97,709,323 (GRCm39) M47R possibly damaging Het
Kalrn T C 16: 33,996,092 (GRCm39) probably benign Het
Kat14 C A 2: 144,248,540 (GRCm39) probably null Het
Kcnu1 T C 8: 26,376,796 (GRCm39) V390A possibly damaging Het
Kdm5a T A 6: 120,375,977 (GRCm39) Y578N probably damaging Het
Lrp1b T C 2: 41,000,763 (GRCm39) probably benign Het
Mpc2 G T 1: 165,307,092 (GRCm39) A98S probably benign Het
Nek10 T C 14: 14,850,957 (GRCm38) I334T probably damaging Het
Nufip2 T A 11: 77,583,196 (GRCm39) V370E possibly damaging Het
Nup160 C A 2: 90,514,356 (GRCm39) Y101* probably null Het
Obscn T A 11: 58,919,715 (GRCm39) Y6174F probably damaging Het
Omp A T 7: 97,794,489 (GRCm39) I46N probably benign Het
Pcbp4 A T 9: 106,340,448 (GRCm39) probably null Het
Pctp A G 11: 89,879,552 (GRCm39) V103A probably damaging Het
Pla2r1 A G 2: 60,309,814 (GRCm39) Y590H probably damaging Het
Reln G A 5: 22,124,019 (GRCm39) T2829M probably benign Het
Sh3yl1 T A 12: 30,989,563 (GRCm39) probably benign Het
Sipa1l3 A T 7: 29,048,112 (GRCm39) Y210N probably damaging Het
Slc33a1 C A 3: 63,850,833 (GRCm39) C497F probably damaging Het
Srp9 G A 1: 181,958,902 (GRCm39) C25Y probably damaging Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Tut7 A T 13: 59,933,614 (GRCm39) I894K probably damaging Het
Usf3 C A 16: 44,033,000 (GRCm39) probably null Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Vps13a C T 19: 16,720,371 (GRCm39) A405T probably damaging Het
Zan A T 5: 137,412,604 (GRCm39) probably benign Het
Other mutations in Ppfibp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Ppfibp2 APN 7 107,308,012 (GRCm39) missense probably damaging 1.00
IGL00429:Ppfibp2 APN 7 107,296,801 (GRCm39) missense probably benign 0.18
IGL00785:Ppfibp2 APN 7 107,337,094 (GRCm39) missense probably benign
IGL00821:Ppfibp2 APN 7 107,329,083 (GRCm39) missense probably damaging 1.00
IGL01295:Ppfibp2 APN 7 107,346,746 (GRCm39) unclassified probably benign
IGL02115:Ppfibp2 APN 7 107,338,525 (GRCm39) unclassified probably benign
IGL02323:Ppfibp2 APN 7 107,337,836 (GRCm39) missense probably damaging 1.00
IGL02458:Ppfibp2 APN 7 107,342,171 (GRCm39) missense probably damaging 1.00
IGL02731:Ppfibp2 APN 7 107,345,629 (GRCm39) missense possibly damaging 0.92
IGL03343:Ppfibp2 APN 7 107,337,126 (GRCm39) nonsense probably null
R0142:Ppfibp2 UTSW 7 107,343,384 (GRCm39) missense probably damaging 1.00
R0555:Ppfibp2 UTSW 7 107,328,381 (GRCm39) missense probably damaging 1.00
R0630:Ppfibp2 UTSW 7 107,337,806 (GRCm39) critical splice acceptor site probably null
R1374:Ppfibp2 UTSW 7 107,285,195 (GRCm39) splice site probably benign
R1668:Ppfibp2 UTSW 7 107,329,099 (GRCm39) missense probably damaging 1.00
R1731:Ppfibp2 UTSW 7 107,339,796 (GRCm39) missense probably damaging 1.00
R1830:Ppfibp2 UTSW 7 107,236,504 (GRCm39) missense probably damaging 1.00
R1902:Ppfibp2 UTSW 7 107,345,585 (GRCm39) missense probably damaging 1.00
R2061:Ppfibp2 UTSW 7 107,338,437 (GRCm39) missense probably damaging 1.00
R2929:Ppfibp2 UTSW 7 107,296,858 (GRCm39) missense probably damaging 0.99
R3777:Ppfibp2 UTSW 7 107,328,396 (GRCm39) missense probably benign 0.00
R3778:Ppfibp2 UTSW 7 107,328,396 (GRCm39) missense probably benign 0.00
R4839:Ppfibp2 UTSW 7 107,342,192 (GRCm39) missense probably damaging 1.00
R4879:Ppfibp2 UTSW 7 107,328,390 (GRCm39) missense probably benign 0.01
R5643:Ppfibp2 UTSW 7 107,337,097 (GRCm39) missense probably damaging 1.00
R5773:Ppfibp2 UTSW 7 107,285,079 (GRCm39) missense possibly damaging 0.74
R6255:Ppfibp2 UTSW 7 107,280,969 (GRCm39) missense probably damaging 0.96
R6356:Ppfibp2 UTSW 7 107,280,976 (GRCm39) missense probably benign 0.01
R6843:Ppfibp2 UTSW 7 107,326,938 (GRCm39) missense probably benign 0.00
R6889:Ppfibp2 UTSW 7 107,337,188 (GRCm39) missense possibly damaging 0.94
R7051:Ppfibp2 UTSW 7 107,316,925 (GRCm39) missense probably damaging 1.00
R7194:Ppfibp2 UTSW 7 107,322,187 (GRCm39) critical splice donor site probably null
R7654:Ppfibp2 UTSW 7 107,337,818 (GRCm39) missense probably damaging 0.99
R7678:Ppfibp2 UTSW 7 107,315,873 (GRCm39) missense probably damaging 0.98
R7895:Ppfibp2 UTSW 7 107,320,524 (GRCm39) splice site probably null
R8385:Ppfibp2 UTSW 7 107,296,894 (GRCm39) missense probably benign 0.44
R8434:Ppfibp2 UTSW 7 107,327,957 (GRCm39) critical splice donor site probably null
R8691:Ppfibp2 UTSW 7 107,346,785 (GRCm39) missense probably damaging 0.99
R8695:Ppfibp2 UTSW 7 107,285,063 (GRCm39) splice site probably benign
R8700:Ppfibp2 UTSW 7 107,345,602 (GRCm39) missense possibly damaging 0.94
R8755:Ppfibp2 UTSW 7 107,343,432 (GRCm39) missense probably damaging 1.00
R9172:Ppfibp2 UTSW 7 107,337,525 (GRCm39) nonsense probably null
R9182:Ppfibp2 UTSW 7 107,308,053 (GRCm39) missense possibly damaging 0.72
R9355:Ppfibp2 UTSW 7 107,322,169 (GRCm39) missense probably benign 0.00
R9545:Ppfibp2 UTSW 7 107,337,504 (GRCm39) missense probably damaging 1.00
R9688:Ppfibp2 UTSW 7 107,318,448 (GRCm39) missense probably benign 0.02
RF022:Ppfibp2 UTSW 7 107,296,817 (GRCm39) missense probably damaging 1.00
Z1177:Ppfibp2 UTSW 7 107,342,257 (GRCm39) missense possibly damaging 0.85
Posted On 2013-10-07