Incidental Mutation 'R6277:Ppfibp1'
ID 507707
Institutional Source Beutler Lab
Gene Symbol Ppfibp1
Ensembl Gene ENSMUSG00000016487
Gene Name PTPRF interacting protein, binding protein 1 (liprin beta 1)
Synonyms
MMRRC Submission 044447-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R6277 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 146789985-146933523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146907422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 228 (D228E)
Ref Sequence ENSEMBL: ENSMUSP00000122515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000136837] [ENSMUST00000154221]
AlphaFold Q8C8U0
Predicted Effect probably benign
Transcript: ENSMUST00000016631
AA Change: D342E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: D342E

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
AA Change: D353E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: D353E

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 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: ENSMUST00000154221
AA Change: D228E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000122515
Gene: ENSMUSG00000016487
AA Change: D228E

DomainStartEndE-ValueType
coiled coil region 7 196 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000155415
AA Change: D34E
SMART Domains Protein: ENSMUSP00000121270
Gene: ENSMUSG00000016487
AA Change: D34E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204028
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency 96% (70/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,651 (GRCm39) Y105H possibly damaging Het
4921539E11Rik A T 4: 103,088,668 (GRCm39) Y179* probably null Het
Abca7 G C 10: 79,841,992 (GRCm39) V1042L probably benign Het
Adck5 C A 15: 76,477,463 (GRCm39) T99K possibly damaging Het
Adcy5 A G 16: 35,109,896 (GRCm39) T823A probably benign Het
Adra1d G T 2: 131,403,083 (GRCm39) R336S probably damaging Het
Arhgap39 A T 15: 76,619,337 (GRCm39) M749K probably damaging Het
Arid4a A G 12: 71,086,665 (GRCm39) R168G possibly damaging Het
Atxn10 A G 15: 85,275,893 (GRCm39) T317A probably benign Het
Bicc1 T C 10: 70,863,731 (GRCm39) K22E possibly damaging Het
Cacna1b T G 2: 24,620,808 (GRCm39) T281P probably damaging Het
Ccdc174 A T 6: 91,857,272 (GRCm39) Q26L probably damaging Het
Celf3 T C 3: 94,392,672 (GRCm39) C124R probably damaging Het
Cfap44 A G 16: 44,257,669 (GRCm39) E1068G probably benign Het
Crybg1 T A 10: 43,873,255 (GRCm39) E1284D probably benign Het
Dcbld2 T A 16: 58,272,119 (GRCm39) Y392N probably damaging Het
Dcbld2 C T 16: 58,285,866 (GRCm39) P675L probably damaging Het
Dnah12 A T 14: 26,492,439 (GRCm39) H1193L probably damaging Het
Efcab3 G C 11: 104,901,148 (GRCm39) E4422D possibly damaging Het
Ern2 A G 7: 121,785,330 (GRCm39) F16L probably benign Het
Fam163b G T 2: 27,002,763 (GRCm39) T78N probably benign Het
Fbxw21 A T 9: 108,974,623 (GRCm39) I299K possibly damaging Het
Foxg1 A G 12: 49,432,299 (GRCm39) N344S probably benign Het
Git2 A G 5: 114,871,308 (GRCm39) I202T probably damaging Het
Gm11595 G T 11: 99,663,510 (GRCm39) P57T unknown Het
Gm12258 G A 11: 58,745,113 (GRCm39) V15M probably damaging Het
Gm15056 C T 8: 21,390,914 (GRCm39) G40S probably damaging Het
Gnal C A 18: 67,346,143 (GRCm39) H274Q probably damaging Het
Hormad2 A T 11: 4,371,583 (GRCm39) probably null Het
Ighv7-2 A G 12: 113,876,087 (GRCm39) I6T probably benign Het
Irf9 A G 14: 55,845,109 (GRCm39) D323G probably benign Het
Klhl23 G T 2: 69,664,096 (GRCm39) D482Y probably damaging Het
Lama4 A G 10: 38,982,006 (GRCm39) N1745S probably damaging Het
Lct T A 1: 128,231,974 (GRCm39) Y625F probably benign Het
Lrrc26 T C 2: 25,180,116 (GRCm39) V39A probably benign Het
Mllt6 G A 11: 97,564,774 (GRCm39) A527T probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Nlrp5 A G 7: 23,120,880 (GRCm39) D698G probably damaging Het
Or13p10 T A 4: 118,523,520 (GRCm39) S269T probably benign Het
Pacsin1 T A 17: 27,924,969 (GRCm39) probably null Het
Padi3 A T 4: 140,518,472 (GRCm39) probably null Het
Pcdha8 T C 18: 37,127,411 (GRCm39) I631T probably damaging Het
Pkn3 G A 2: 29,972,957 (GRCm39) G315D possibly damaging Het
Prag1 G T 8: 36,613,745 (GRCm39) R1099L probably damaging Het
Pramel31 A G 4: 144,090,223 (GRCm39) E421G probably damaging Het
Prr36 A G 8: 4,264,746 (GRCm39) probably benign Het
Prrc2c A G 1: 162,541,883 (GRCm39) S369P probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Slc9c1 G A 16: 45,427,204 (GRCm39) probably benign Het
Slit1 G A 19: 41,588,948 (GRCm39) T1513I possibly damaging Het
Smcr8 C T 11: 60,669,635 (GRCm39) T261M probably benign Het
Spata17 G A 1: 186,926,151 (GRCm39) R60* probably null Het
Speer4f1 A G 5: 17,681,241 (GRCm39) R40G probably damaging Het
Spns3 A G 11: 72,420,466 (GRCm39) V340A possibly damaging Het
Srgap3 T C 6: 112,716,344 (GRCm39) I595V probably benign Het
Srms G A 2: 180,848,038 (GRCm39) A489V possibly damaging Het
St3gal4 T C 9: 34,964,558 (GRCm39) N169S probably damaging Het
Taar5 T A 10: 23,847,169 (GRCm39) V189E probably damaging Het
Tbc1d32 G A 10: 56,071,525 (GRCm39) P333L probably benign Het
Tet3 G T 6: 83,345,066 (GRCm39) Y1790* probably null Het
Ticrr T A 7: 79,344,444 (GRCm39) H1436Q probably benign Het
Top6bl G T 19: 4,677,250 (GRCm39) S466* probably null Het
Ubl7 C T 9: 57,830,555 (GRCm39) L334F possibly damaging Het
Unc13a A G 8: 72,119,283 (GRCm39) probably null Het
Unc13c T C 9: 73,606,451 (GRCm39) D1303G probably damaging Het
Vmn2r114 A G 17: 23,509,954 (GRCm39) L842P possibly damaging Het
Vps35 G T 8: 85,987,857 (GRCm39) Q765K possibly damaging Het
Zfp87 G T 13: 74,520,643 (GRCm39) S145* probably null Het
Zgrf1 C T 3: 127,392,461 (GRCm39) A1327V possibly damaging Het
Zkscan6 T A 11: 65,718,983 (GRCm39) S334R probably benign 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
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'- TTGCTTATACTTTGGCTGGCAC -3'
(R):5'- AGCTACCAGAATAGACCAGTGG -3'

Sequencing Primer
(F):5'- CTGGCACTATAGCTCAGTGGTACAG -3'
(R):5'- CCAGTGGGTAATACTGCTGG -3'
Posted On 2018-03-15