Incidental Mutation 'R5631:Ppfibp1'
ID 439851
Institutional Source Beutler Lab
Gene Symbol Ppfibp1
Ensembl Gene ENSMUSG00000016487
Gene Name PTPRF interacting protein, binding protein 1 (liprin beta 1)
Synonyms
MMRRC Submission 043282-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R5631 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 146789985-146933523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 146898358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 105 (Y105H)
Ref Sequence ENSEMBL: ENSMUSP00000122515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000154221] [ENSMUST00000204660]
AlphaFold Q8C8U0
Predicted Effect probably benign
Transcript: ENSMUST00000016631
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:3QH9|A 180 256 3e-8 PDB
low complexity region 345 358 N/A INTRINSIC
low complexity region 426 441 N/A INTRINSIC
low complexity region 530 546 N/A INTRINSIC
SAM 603 670 3.06e-13 SMART
SAM 675 741 2.39e-15 SMART
SAM 763 835 7.91e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111623
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:3QH9|A 180 256 3e-8 PDB
low complexity region 272 284 N/A INTRINSIC
low complexity region 356 369 N/A INTRINSIC
low complexity region 437 452 N/A INTRINSIC
low complexity region 541 557 N/A INTRINSIC
SAM 614 681 3.06e-13 SMART
SAM 686 752 2.39e-15 SMART
SAM 774 846 7.91e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149203
Predicted Effect probably damaging
Transcript: ENSMUST00000154221
AA Change: Y105H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122515
Gene: ENSMUSG00000016487
AA Change: Y105H

DomainStartEndE-ValueType
coiled coil region 7 196 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204660
SMART Domains Protein: ENSMUSP00000144887
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
coiled coil region 99 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205056
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,067,590 (GRCm39) V567L possibly damaging Het
Abraxas1 T G 5: 100,965,840 (GRCm39) Y68S probably damaging Het
Adamtsl1 C T 4: 86,195,160 (GRCm39) Q543* probably null Het
Anapc1 T C 2: 128,499,137 (GRCm39) Y845C possibly damaging Het
Ap4m1 A G 5: 138,173,051 (GRCm39) *98W probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cramp1 T A 17: 25,204,577 (GRCm39) T275S possibly damaging Het
Dock3 T C 9: 106,832,898 (GRCm39) S1038G probably benign Het
Fancm T C 12: 65,160,617 (GRCm39) V1397A probably damaging Het
Fn1 T C 1: 71,629,355 (GRCm39) T2203A probably damaging Het
Gm57858 G C 3: 36,101,026 (GRCm39) Q49E probably damaging Het
Heatr5a T A 12: 52,002,310 (GRCm39) I209F probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hpx A T 7: 105,244,808 (GRCm39) C126S probably damaging Het
Ipo4 A G 14: 55,869,526 (GRCm39) V378A probably damaging Het
Ipo4 C T 14: 55,870,838 (GRCm39) V265I probably benign Het
Kcnv1 T A 15: 44,972,753 (GRCm39) T377S probably damaging Het
Kmt2a A T 9: 44,731,985 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,900,301 (GRCm39) D67G probably damaging Het
Lrrc71 T A 3: 87,646,456 (GRCm39) M535L probably benign Het
Mfhas1 G A 8: 36,055,573 (GRCm39) R16Q probably damaging Het
Mrc1 A T 2: 14,333,383 (GRCm39) K1355* probably null Het
Mrgprf A G 7: 144,862,283 (GRCm39) I282V probably benign Het
Mvb12b G T 2: 33,717,715 (GRCm39) P142Q probably damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Ncoa5 T C 2: 164,855,041 (GRCm39) D27G possibly damaging Het
Nrap T G 19: 56,342,553 (GRCm39) E780A probably benign Het
Oplah T C 15: 76,189,441 (GRCm39) I228V probably benign Het
Or5w1b A T 2: 87,475,952 (GRCm39) S172T probably benign Het
Pkdrej T C 15: 85,704,638 (GRCm39) M433V probably benign Het
Polr3h T A 15: 81,810,113 (GRCm39) probably benign Het
Rplp2 A C 7: 141,031,172 (GRCm39) probably benign Het
Rps6ka4 T C 19: 6,808,345 (GRCm39) probably benign Het
Rspry1 A T 8: 95,355,706 (GRCm39) M1L possibly damaging Het
Runx1 C A 16: 92,492,451 (GRCm39) R64L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc9a5 C T 8: 106,076,141 (GRCm39) H45Y possibly damaging Het
Smc4 T C 3: 68,937,645 (GRCm39) I890T probably benign Het
Smtnl1 T C 2: 84,649,098 (GRCm39) E52G probably benign Het
Stag3 T A 5: 138,294,139 (GRCm39) I319N probably damaging Het
Stt3b G A 9: 115,083,913 (GRCm39) T421I probably benign Het
Thumpd1 A G 7: 119,319,825 (GRCm39) L47P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b T C 14: 16,409,882 (GRCm38) Y850H probably damaging Het
Trim34a A T 7: 103,897,946 (GRCm39) E158V probably damaging Het
Trp53i13 C A 11: 77,400,419 (GRCm39) probably null Het
Ugt3a1 T C 15: 9,361,971 (GRCm39) V249A probably damaging Het
Vmn1r128 G A 7: 21,083,300 (GRCm39) M1I probably null Het
Yars1 T G 4: 129,103,542 (GRCm39) L297R probably damaging Het
Yju2b G T 8: 84,990,510 (GRCm39) Q41K probably damaging Het
Zkscan3 A G 13: 21,578,703 (GRCm39) L176P probably damaging Het
Other mutations in Ppfibp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Ppfibp1 APN 6 146,931,195 (GRCm39) missense probably benign 0.07
IGL02644:Ppfibp1 APN 6 146,923,938 (GRCm39) missense probably damaging 1.00
IGL02711:Ppfibp1 APN 6 146,927,736 (GRCm39) nonsense probably null
IGL02737:Ppfibp1 APN 6 146,928,806 (GRCm39) missense probably damaging 1.00
IGL02745:Ppfibp1 APN 6 146,923,852 (GRCm39) unclassified probably benign
IGL03120:Ppfibp1 APN 6 146,899,667 (GRCm39) missense probably benign 0.00
IGL03300:Ppfibp1 APN 6 146,931,825 (GRCm39) missense probably damaging 1.00
R0114:Ppfibp1 UTSW 6 146,899,731 (GRCm39) missense probably benign 0.04
R0480:Ppfibp1 UTSW 6 146,920,529 (GRCm39) splice site probably null
R0699:Ppfibp1 UTSW 6 146,927,720 (GRCm39) missense probably damaging 0.99
R1515:Ppfibp1 UTSW 6 146,928,930 (GRCm39) missense probably benign
R1830:Ppfibp1 UTSW 6 146,923,757 (GRCm39) critical splice donor site probably null
R1858:Ppfibp1 UTSW 6 146,892,090 (GRCm39) missense probably benign 0.06
R2160:Ppfibp1 UTSW 6 146,928,951 (GRCm39) missense probably damaging 0.98
R2389:Ppfibp1 UTSW 6 146,923,669 (GRCm39) missense probably damaging 1.00
R2517:Ppfibp1 UTSW 6 146,893,942 (GRCm39) missense probably damaging 1.00
R3882:Ppfibp1 UTSW 6 146,899,719 (GRCm39) missense possibly damaging 0.67
R4035:Ppfibp1 UTSW 6 146,898,334 (GRCm39) missense probably damaging 0.99
R4202:Ppfibp1 UTSW 6 146,931,079 (GRCm39) missense probably damaging 1.00
R4205:Ppfibp1 UTSW 6 146,931,079 (GRCm39) missense probably damaging 1.00
R4420:Ppfibp1 UTSW 6 146,927,736 (GRCm39) nonsense probably null
R4860:Ppfibp1 UTSW 6 146,892,012 (GRCm39) missense probably benign 0.01
R4860:Ppfibp1 UTSW 6 146,892,012 (GRCm39) missense probably benign 0.01
R4974:Ppfibp1 UTSW 6 146,931,917 (GRCm39) utr 3 prime probably benign
R5163:Ppfibp1 UTSW 6 146,923,629 (GRCm39) splice site probably null
R5180:Ppfibp1 UTSW 6 146,928,819 (GRCm39) missense probably damaging 1.00
R5388:Ppfibp1 UTSW 6 146,917,828 (GRCm39) missense probably damaging 1.00
R5388:Ppfibp1 UTSW 6 146,898,338 (GRCm39) missense probably damaging 1.00
R5458:Ppfibp1 UTSW 6 146,913,933 (GRCm39) intron probably benign
R5479:Ppfibp1 UTSW 6 146,931,648 (GRCm39) critical splice donor site probably null
R6277:Ppfibp1 UTSW 6 146,907,422 (GRCm39) missense probably benign 0.01
R6577:Ppfibp1 UTSW 6 146,901,153 (GRCm39) splice site probably null
R6602:Ppfibp1 UTSW 6 146,879,719 (GRCm39) missense possibly damaging 0.62
R7320:Ppfibp1 UTSW 6 146,879,551 (GRCm39) missense probably damaging 1.00
R7440:Ppfibp1 UTSW 6 146,921,001 (GRCm39) missense probably benign 0.01
R7455:Ppfibp1 UTSW 6 146,917,848 (GRCm39) missense probably damaging 1.00
R7710:Ppfibp1 UTSW 6 146,897,903 (GRCm39) missense probably benign 0.00
R8379:Ppfibp1 UTSW 6 146,931,843 (GRCm39) missense probably damaging 1.00
R8439:Ppfibp1 UTSW 6 146,902,448 (GRCm39) missense possibly damaging 0.94
R8692:Ppfibp1 UTSW 6 146,892,013 (GRCm39) missense probably benign 0.00
R8913:Ppfibp1 UTSW 6 146,923,947 (GRCm39) missense probably damaging 0.99
R8926:Ppfibp1 UTSW 6 146,920,986 (GRCm39) missense probably damaging 1.00
R8943:Ppfibp1 UTSW 6 146,920,681 (GRCm39) critical splice donor site probably null
R9166:Ppfibp1 UTSW 6 146,920,980 (GRCm39) missense probably damaging 1.00
R9372:Ppfibp1 UTSW 6 146,898,307 (GRCm39) missense probably damaging 1.00
R9800:Ppfibp1 UTSW 6 146,917,769 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGAGGTGCTTAGTTGACACG -3'
(R):5'- GGTGTATGCACTCTTAACAGACAG -3'

Sequencing Primer
(F):5'- AGTTGACACGCTAGAGTTCTCAG -3'
(R):5'- GTATGCACTCTTAACAGACAGGTGAC -3'
Posted On 2016-11-08