Incidental Mutation 'R9166:Ppfibp1'
ID 696059
Institutional Source Beutler Lab
Gene Symbol Ppfibp1
Ensembl Gene ENSMUSG00000016487
Gene Name PTPRF interacting protein, binding protein 1 (liprin beta 1)
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R9166 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 146789985-146933523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146920980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 573 (T573A)
Ref Sequence ENSEMBL: ENSMUSP00000107250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000136837]
AlphaFold Q8C8U0
Predicted Effect possibly damaging
Transcript: ENSMUST00000016631
AA Change: T562A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: T562A

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 damaging
Transcript: ENSMUST00000111623
AA Change: T573A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: T573A

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 damaging
Transcript: ENSMUST00000136837
AA Change: T161A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114340
Gene: ENSMUSG00000016487
AA Change: T161A

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,853,046 (GRCm39) L30P possibly damaging Het
Adgrb1 A C 15: 74,420,475 (GRCm39) M875L probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ankrd13c T A 3: 157,705,357 (GRCm39) S427T probably benign Het
Aopep G A 13: 63,318,862 (GRCm39) probably null Het
Ap3b1 A C 13: 94,608,236 (GRCm39) Y569S probably damaging Het
Bco2 A G 9: 50,447,667 (GRCm39) V352A probably benign Het
Bltp1 T A 3: 37,041,516 (GRCm39) N2630K probably damaging Het
Cacnb1 T A 11: 97,910,534 (GRCm39) D48V probably damaging Het
Cdr2l C A 11: 115,283,537 (GRCm39) Q132K probably benign Het
Chrd T C 16: 20,554,572 (GRCm39) M377T probably benign Het
Coq7 T C 7: 118,109,365 (GRCm39) T228A unknown Het
D7Ertd443e G A 7: 133,900,048 (GRCm39) T438I probably benign Het
Dlc1 C T 8: 37,066,589 (GRCm39) E15K probably damaging Het
Dlgap5 C T 14: 47,651,206 (GRCm39) R109Q probably damaging Het
Dysf T C 6: 84,126,959 (GRCm39) V1359A probably damaging Het
E2f7 C T 10: 110,618,085 (GRCm39) P717S probably benign Het
Elmo2 T C 2: 165,132,438 (GRCm39) D669G probably benign Het
Epha6 A G 16: 60,425,238 (GRCm39) V125A probably benign Het
Erg G T 16: 95,190,807 (GRCm39) H119N probably benign Het
Fam13b T C 18: 34,595,252 (GRCm39) S371G probably benign Het
Fancg G C 4: 43,006,800 (GRCm39) Q297E probably benign Het
Gas2 A G 7: 51,586,323 (GRCm39) E145G possibly damaging Het
Gas7 T C 11: 67,561,446 (GRCm39) V218A probably benign Het
Gm9970 A G 5: 31,398,345 (GRCm39) S78P unknown Het
Hectd4 A C 5: 121,446,690 (GRCm39) D259A probably damaging Het
Hoxb2 T G 11: 96,244,339 (GRCm39) S317A probably damaging Het
Hspg2 T C 4: 137,270,185 (GRCm39) L2381P probably damaging Het
Irf4 A T 13: 30,941,484 (GRCm39) H280L probably benign Het
Irf7 A G 7: 140,844,666 (GRCm39) V142A probably benign Het
Kat7 T C 11: 95,190,928 (GRCm39) I94V probably benign Het
Kera T A 10: 97,448,830 (GRCm39) I350K possibly damaging Het
Klf15 T C 6: 90,443,952 (GRCm39) S176P probably benign Het
Lrrc59 C A 11: 94,522,959 (GRCm39) T53N probably benign Het
Morn5 T C 2: 35,945,024 (GRCm39) Y83H probably damaging Het
Myef2l A G 3: 10,153,849 (GRCm39) N206S probably benign Het
Neil3 A C 8: 54,058,722 (GRCm39) M273R probably damaging Het
Ngfr A T 11: 95,465,047 (GRCm39) V267E possibly damaging Het
Nudc T C 4: 133,273,165 (GRCm39) D11G probably damaging Het
Or2t1 A T 14: 14,329,059 (GRCm38) D316V probably benign Het
Or4a81 T A 2: 89,619,291 (GRCm39) N135I probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pik3cg C T 12: 32,242,213 (GRCm39) G966R probably damaging Het
Ppp2r5a C A 1: 191,128,504 (GRCm39) R37L probably benign Het
Prpf8 T C 11: 75,387,340 (GRCm39) F1207S possibly damaging Het
Prtg A T 9: 72,764,107 (GRCm39) I527F probably damaging Het
Pspc1 A G 14: 56,999,305 (GRCm39) M317T probably damaging Het
Ptpru C T 4: 131,525,180 (GRCm39) V768I probably benign Het
Ptx4 A G 17: 25,343,546 (GRCm39) probably null Het
Ralgapb T C 2: 158,274,842 (GRCm39) probably null Het
Rhobtb2 C A 14: 70,034,703 (GRCm39) G174V probably damaging Het
Sdad1 G T 5: 92,446,080 (GRCm39) S285* probably null Het
Sema4f G T 6: 82,890,626 (GRCm39) S727* probably null Het
Sik1 A G 17: 32,069,727 (GRCm39) F241L probably damaging Het
Slc8b1 T C 5: 120,662,096 (GRCm39) S279P probably benign Het
Slco4a1 A G 2: 180,106,034 (GRCm39) E72G probably benign Het
Smok3c A T 5: 138,063,781 (GRCm39) T423S possibly damaging Het
Sorcs3 T C 19: 48,784,811 (GRCm39) V1078A probably benign Het
Sptb A G 12: 76,673,776 (GRCm39) V337A probably damaging Het
Tet2 C A 3: 133,173,933 (GRCm39) G1443V probably damaging Het
Ticam2 A T 18: 46,694,048 (GRCm39) L13H probably damaging Het
Tnrc6a A G 7: 122,786,624 (GRCm39) E1562G probably damaging Het
Trim24 A T 6: 37,934,074 (GRCm39) K742N probably damaging Het
Trim56 A T 5: 137,142,751 (GRCm39) V255E probably damaging Het
Trmt12 A G 15: 58,744,608 (GRCm39) E2G probably benign Het
Tubd1 A T 11: 86,452,091 (GRCm39) T353S probably benign Het
Vim T C 2: 13,579,556 (GRCm39) V105A probably benign Het
Vmn2r58 A T 7: 41,513,431 (GRCm39) V404E probably damaging Het
Wdr62 G A 7: 29,941,874 (GRCm39) P1115L probably damaging Het
Wfdc12 G T 2: 164,032,193 (GRCm39) C32* probably null Het
Zfp750 T A 11: 121,403,980 (GRCm39) R298S 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
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
R8943:Ppfibp1 UTSW 6 146,920,681 (GRCm39) critical splice donor site probably null
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'- AATGGGAAGTTTGCCTGGGC -3'
(R):5'- GTCACTTTCCCAGACAGAGC -3'

Sequencing Primer
(F):5'- GGTACCAAATCCCAAGGCTTTTTG -3'
(R):5'- TTTCCCAGACAGAGCAGTAAGTCG -3'
Posted On 2022-02-07