Incidental Mutation 'R8943:Ppfibp1'
ID 681094
Institutional Source Beutler Lab
Gene Symbol Ppfibp1
Ensembl Gene ENSMUSG00000016487
Gene Name PTPRF interacting protein, binding protein 1 (liprin beta 1)
Synonyms
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 146789985-146933523 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 146920681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000136837]
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 null
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 probably benign
Transcript: ENSMUST00000136837
SMART Domains Protein: ENSMUSP00000114340
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
low complexity region 129 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155415
SMART Domains Protein: ENSMUSP00000121270
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 38 51 N/A INTRINSIC
low complexity region 119 134 N/A INTRINSIC
low complexity region 233 249 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null 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
R5631:Ppfibp1 UTSW 6 146,898,358 (GRCm39) missense probably damaging 1.00
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
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'- CTTATTCTATCCTTGGGACAGCTG -3'
(R):5'- CTGAGGAGGCTTCTGACTTG -3'

Sequencing Primer
(F):5'- CTATCCTTGGGACAGCTGAGACAG -3'
(R):5'- CTTCTGACTTGGTGGTTAATCATAAG -3'
Posted On 2021-08-31