Incidental Mutation 'R3777:Ppfibp2'
ID 271836
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3777 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107194414-107347790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107328396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 476 (T476A)
Ref Sequence ENSEMBL: ENSMUSP00000095738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040056
AA Change: T487A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: T487A

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: T476A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: T476A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dsg1b G A 18: 20,532,644 (GRCm39) V563I probably damaging Het
Elovl4 ACT A 9: 83,667,201 (GRCm39) probably null Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fam171b T A 2: 83,708,605 (GRCm39) I369K probably benign Het
Fmn1 A G 2: 113,195,467 (GRCm39) E389G unknown Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm5819 A G 18: 8,694,429 (GRCm39) E118G probably damaging Het
Grip1 G A 10: 119,821,535 (GRCm39) probably null Het
Heatr1 C A 13: 12,428,229 (GRCm39) L789I possibly damaging Het
Hsd17b1 T C 11: 100,969,529 (GRCm39) S59P probably damaging Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Inpp4b T A 8: 82,768,621 (GRCm39) V710D possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Larp4 T A 15: 99,888,238 (GRCm39) W92R probably damaging Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mfsd4b2 A G 10: 39,797,527 (GRCm39) I276T possibly damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Myl12a G T 17: 71,301,631 (GRCm39) H165Q possibly damaging Het
Myo18b T A 5: 112,905,462 (GRCm39) E2045D probably damaging Het
Mypn T C 10: 62,983,761 (GRCm39) T496A possibly damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Or13c3 A T 4: 52,855,636 (GRCm39) N292K probably damaging Het
Or2d4 A T 7: 106,543,519 (GRCm39) S230T probably benign Het
Or4b13 T C 2: 90,082,969 (GRCm39) Y121C probably damaging Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Or8g33 A T 9: 39,337,901 (GRCm39) S155R possibly damaging Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Pik3cg A C 12: 32,244,708 (GRCm39) C915W probably damaging Het
Rapgef1 C T 2: 29,609,701 (GRCm39) H675Y possibly damaging Het
Rpn2 T A 2: 157,141,477 (GRCm39) V263D probably damaging Het
Rps13 A G 7: 115,933,160 (GRCm39) L16P probably damaging Het
Rsph14 C G 10: 74,793,419 (GRCm39) Q360H possibly damaging Het
Rsph14 T G 10: 74,793,420 (GRCm39) Q360P possibly damaging Het
Semp2l2b T C 10: 21,942,861 (GRCm39) E373G probably damaging Het
Smarcc2 G A 10: 128,318,812 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Spag9 G A 11: 93,989,852 (GRCm39) probably null Het
Svil A G 18: 5,090,855 (GRCm39) N915S probably damaging Het
Syt17 A G 7: 118,033,180 (GRCm39) L215P probably damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tph2 T C 10: 114,915,910 (GRCm39) D421G probably benign Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Vdac3 T C 8: 23,070,525 (GRCm39) N128D probably benign Het
Vegfb G A 19: 6,964,767 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,717 (GRCm39) N315K probably 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
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
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'- CAAACTCTTTTGGCTCCAGGC -3'
(R):5'- AATGTGACTCTTCCACTTCCACAG -3'

Sequencing Primer
(F):5'- CCAGGCATCTTGGTATGGAGCTC -3'
(R):5'- CTTCCACAGCTATGCAAATGTGGG -3'
Posted On 2015-03-25