Incidental Mutation 'R3778:Ppfibp2'
ID 271898
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 040750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3778 (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: 94.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,618,846 (GRCm39) L769H probably damaging Het
Aldh1a7 A T 19: 20,696,675 (GRCm39) M106K possibly damaging Het
Ankfn1 G T 11: 89,332,220 (GRCm39) P442Q probably damaging Het
Aox1 A C 1: 58,092,862 (GRCm39) D158A possibly damaging Het
Apc A G 18: 34,446,134 (GRCm39) N976S probably damaging Het
Cfap54 C T 10: 92,740,206 (GRCm39) probably benign Het
Cldn1 C T 16: 26,190,216 (GRCm39) C54Y probably damaging Het
Col22a1 A T 15: 71,845,541 (GRCm39) I407N probably damaging Het
Cyp2e1 T C 7: 140,343,822 (GRCm39) V20A possibly damaging Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fbn1 C T 2: 125,159,006 (GRCm39) C2253Y probably damaging Het
Fhip1b T A 7: 105,037,435 (GRCm39) T383S probably damaging Het
Flnb G A 14: 7,915,353 (GRCm38) V1495I probably benign Het
Fscn3 A C 6: 28,430,031 (GRCm39) K67T possibly damaging Het
Gls A G 1: 52,208,071 (GRCm39) V571A probably benign Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm4871 A G 5: 144,966,893 (GRCm39) S197P probably damaging Het
Gm7104 A T 12: 88,252,441 (GRCm39) noncoding transcript Het
Gp9 A T 6: 87,755,987 (GRCm39) M1L probably benign Het
Greb1l T A 18: 10,469,444 (GRCm39) L153H possibly damaging Het
H1f8 T C 6: 115,926,708 (GRCm39) probably null Het
Hadha A T 5: 30,325,127 (GRCm39) C688S probably damaging Het
Hif1an A G 19: 44,557,847 (GRCm39) D243G probably damaging Het
Hmcn1 A T 1: 150,678,575 (GRCm39) D515E possibly damaging Het
Hsfy2 A T 1: 56,675,847 (GRCm39) V230E possibly 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
Itpr3 A G 17: 27,314,446 (GRCm39) D632G possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lrig2 A G 3: 104,365,277 (GRCm39) I625T probably benign Het
Lrp2 A T 2: 69,339,548 (GRCm39) M1121K probably benign Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mei1 T C 15: 81,966,209 (GRCm39) L277P probably damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mycbp2 T A 14: 103,434,721 (GRCm39) I2241F probably damaging Het
Nalcn G A 14: 123,702,128 (GRCm39) T461M probably damaging Het
Ncoa6 A G 2: 155,263,115 (GRCm39) S440P probably damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Notch2 T C 3: 98,053,939 (GRCm39) S2201P probably damaging Het
Or10c1 T C 17: 37,522,649 (GRCm39) T32A probably benign Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Pard6g A T 18: 80,123,038 (GRCm39) probably null Het
Pask T A 1: 93,255,189 (GRCm39) I294F probably damaging Het
Pax9 A G 12: 56,743,533 (GRCm39) Y60C probably damaging Het
Pcdh15 G A 10: 73,782,983 (GRCm39) probably null Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Ppm1e T C 11: 87,139,754 (GRCm39) probably null Het
Rsph14 T G 10: 74,793,420 (GRCm39) Q360P possibly damaging Het
Rsph14 C G 10: 74,793,419 (GRCm39) Q360H possibly damaging Het
Sec24c A G 14: 20,733,375 (GRCm39) Q234R possibly damaging Het
Shcbp1 A T 8: 4,786,295 (GRCm39) N602K probably benign Het
Sirt5 A G 13: 43,536,583 (GRCm39) probably null Het
Slc66a1 T C 4: 139,026,293 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tmem235 A T 11: 117,753,126 (GRCm39) H83L probably benign Het
Trappc10 A G 10: 78,036,636 (GRCm39) V861A possibly damaging Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Wnt6 A C 1: 74,821,941 (GRCm39) D174A possibly damaging Het
Wwox T C 8: 115,601,347 (GRCm39) C355R probably benign Het
Zfp229 A T 17: 21,964,183 (GRCm39) T138S 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
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'- GTCCTTGGAAGTGTTCTCAAACTC -3'
(R):5'- TCCACAGCTATGCAAATGTGG -3'

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