Incidental Mutation 'R1668:Ppfibp2'
ID 187367
Institutional Source Beutler Lab
Gene Symbol Ppfibp2
Ensembl Gene ENSMUSG00000036528
Gene Name PTPRF interacting protein, binding protein 2 (liprin beta 2)
Synonyms liprin beta 2, Cclp1
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107194414-107347790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107329099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 536 (L536P)
Ref Sequence ENSEMBL: ENSMUSP00000042574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040056
AA Change: L536P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: L536P

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 damaging
Transcript: ENSMUST00000098134
AA Change: L525P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: L525P

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly damaging 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
IGL01361:Ppfibp2 APN 7 107,343,508 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GTTGGAAGCACTGTCGTAGGTCATC -3'
(R):5'- TGCGGGTAAATCTACTCATGGCAAG -3'

Sequencing Primer
(F):5'- ATCTTCCCTGGCTTCAGGATAG -3'
(R):5'- CAAGTATGTATGATAGACTCCTGCC -3'
Posted On 2014-05-09