Incidental Mutation 'R7678:Ppfibp2'
ID 592581
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 045745-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7678 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107194414-107347790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107315873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 285 (M285K)
Ref Sequence ENSEMBL: ENSMUSP00000095738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000040056
AA Change: M285K

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: M285K

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: M285K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: M285K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C A 5: 8,137,750 (GRCm39) probably null Het
Ank1 A G 8: 23,607,074 (GRCm39) D1325G probably damaging Het
Asxl1 T C 2: 153,242,572 (GRCm39) S1042P probably damaging Het
Bpifb1 C T 2: 154,044,649 (GRCm39) H39Y possibly damaging Het
Capn13 C A 17: 73,622,300 (GRCm39) M663I probably damaging Het
Cemip2 C A 19: 21,775,480 (GRCm39) T241K probably damaging Het
Clec2g A G 6: 128,956,400 (GRCm39) E72G probably damaging Het
Col12a1 T A 9: 79,558,768 (GRCm39) Y1899F probably damaging Het
Ctbp2 A G 7: 132,616,353 (GRCm39) V194A probably benign Het
Cttnbp2 G T 6: 18,382,809 (GRCm39) L1320I probably damaging Het
E2f2 T A 4: 135,920,137 (GRCm39) L374* probably null Het
Echdc3 C T 2: 6,217,687 (GRCm39) G29S probably benign Het
Ecm1 A G 3: 95,643,494 (GRCm39) S269P probably damaging Het
Elmo2 G A 2: 165,133,664 (GRCm39) P775S unknown Het
Eno3 T A 11: 70,549,993 (GRCm39) probably null Het
Faf1 G A 4: 109,687,061 (GRCm39) R267K probably benign Het
Fam162a G A 16: 35,870,307 (GRCm39) probably benign Het
Fam178b T A 1: 36,603,532 (GRCm39) D473V probably damaging Het
Fat2 G A 11: 55,173,156 (GRCm39) T2519I probably damaging Het
Foxc2 A G 8: 121,844,834 (GRCm39) Y494C probably damaging Het
Gcnt2 C A 13: 41,107,195 (GRCm39) Q355K probably benign Het
Glg1 G T 8: 111,905,497 (GRCm39) H595N probably benign Het
Gm9913 A T 2: 125,348,480 (GRCm39) H97L unknown Het
Hbegf T A 18: 36,640,601 (GRCm39) N152I possibly damaging Het
Hipk1 G A 3: 103,667,866 (GRCm39) T567I probably damaging Het
Idh3a C T 9: 54,502,453 (GRCm39) P78S probably damaging Het
Igsf10 A T 3: 59,226,761 (GRCm39) M2304K possibly damaging Het
Inf2 A G 12: 112,573,428 (GRCm39) T723A unknown Het
Itpr2 A T 6: 146,089,048 (GRCm39) F2220Y probably benign Het
Kpnb1 C T 11: 97,059,999 (GRCm39) R557Q probably damaging Het
Lefty1 A G 1: 180,764,325 (GRCm39) D155G probably damaging Het
Lrp1 A G 10: 127,409,922 (GRCm39) C1554R probably damaging Het
Lrrc10 A G 10: 116,881,662 (GRCm39) D112G probably benign Het
Med12l A G 3: 58,984,141 (GRCm39) E439G probably damaging Het
Ms4a7 A T 19: 11,301,868 (GRCm39) F185Y probably benign Het
Mtmr6 T A 14: 60,527,101 (GRCm39) M234K probably damaging Het
Myh7b C A 2: 155,459,698 (GRCm39) probably null Het
Myo1d T C 11: 80,567,719 (GRCm39) M254V possibly damaging Het
Nbas T C 12: 13,465,662 (GRCm39) V1368A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Neb A G 2: 52,096,714 (GRCm39) V4999A probably damaging Het
Npbwr1 G T 1: 5,986,927 (GRCm39) Q196K probably benign Het
Nsd3 A T 8: 26,149,833 (GRCm39) E339D possibly damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Or11g1 T C 14: 50,651,471 (GRCm39) F157L probably damaging Het
Or6c206 A G 10: 129,096,937 (GRCm39) S36G probably damaging Het
Or7d11 T C 9: 19,965,901 (GRCm39) N168S probably damaging Het
Plxna1 C T 6: 89,308,882 (GRCm39) V1199M probably damaging Het
Ppip5k1 A G 2: 121,168,142 (GRCm39) Y704H probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Sbspon T C 1: 15,929,282 (GRCm39) M170V probably benign Het
Scfd2 A C 5: 74,619,297 (GRCm39) F440V probably benign Het
Slc22a19 T A 19: 7,688,302 (GRCm39) D86V possibly damaging Het
Smg5 A G 3: 88,261,202 (GRCm39) N685S possibly damaging Het
Spata46 A G 1: 170,139,333 (GRCm39) R111G possibly damaging Het
Sry A T Y: 2,663,248 (GRCm39) D137E possibly damaging Het
Tbkbp1 T C 11: 97,040,309 (GRCm39) D35G probably damaging Het
Tcf20 A T 15: 82,735,766 (GRCm39) V1895D possibly damaging Het
Tfap4 G T 16: 4,369,630 (GRCm39) Q112K possibly damaging Het
Trmt10c T A 16: 55,855,302 (GRCm39) D111V probably benign Het
Unc80 T C 1: 66,688,881 (GRCm39) I2415T probably benign Het
Vmn2r107 A T 17: 20,576,901 (GRCm39) M300L probably benign Het
Vmn2r5 A T 3: 64,416,943 (GRCm39) F72I probably benign Het
Vmn2r53 T A 7: 12,332,425 (GRCm39) H408L probably benign Het
Zan C T 5: 137,461,802 (GRCm39) V1126M unknown Het
Zfp493 A T 13: 67,927,814 (GRCm39) probably benign Het
Zfp618 C A 4: 63,004,858 (GRCm39) A86E 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
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
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
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'- GTCTAATGAGACCCACGGTG -3'
(R):5'- GCTCTAAGTCACATTTGAGAGATTC -3'

Sequencing Primer
(F):5'- ACGGTGCCAGATACCATCCTG -3'
(R):5'- AAGTTGAGTCTCTAGTGCCAAAAGC -3'
Posted On 2019-11-12