Incidental Mutation 'R5180:Ppfibp1'
ID 399713
Institutional Source Beutler Lab
Gene Symbol Ppfibp1
Ensembl Gene ENSMUSG00000016487
Gene Name PTPRF interacting protein, binding protein 1 (liprin beta 1)
Synonyms
MMRRC Submission 042760-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R5180 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 146789985-146933523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 146928819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 813 (R813L)
Ref Sequence ENSEMBL: ENSMUSP00000107250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623]
AlphaFold Q8C8U0
Predicted Effect probably damaging
Transcript: ENSMUST00000016631
AA Change: R802L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: R802L

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: R813L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: R813L

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: ENSMUST00000205044
Meta Mutation Damage Score 0.8218 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (60/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,416,510 (GRCm39) T4091A probably benign Het
Adgrv1 G A 13: 81,431,535 (GRCm39) probably benign Het
Ago3 C T 4: 126,261,544 (GRCm39) V435I probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ampd2 G T 3: 107,986,358 (GRCm39) Q273K probably benign Het
Ankrd35 C A 3: 96,587,789 (GRCm39) H109Q probably damaging Het
Atpaf2 A G 11: 60,296,695 (GRCm39) L153S possibly damaging Het
C1qtnf7 G A 5: 43,773,156 (GRCm39) V152M probably benign Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep295 C T 9: 15,243,416 (GRCm39) C1680Y probably benign Het
Cyp4f15 A T 17: 32,909,714 (GRCm39) I104F probably benign Het
Daam1 A G 12: 71,993,899 (GRCm39) N434S unknown Het
Dab2ip C T 2: 35,610,503 (GRCm39) P782L possibly damaging Het
Dhx34 C A 7: 15,939,405 (GRCm39) G663* probably null Het
Dnah7a T C 1: 53,462,446 (GRCm39) D3715G probably damaging Het
Dnajc11 C T 4: 152,054,396 (GRCm39) R201C probably damaging Het
Erf A T 7: 24,945,690 (GRCm39) I27N probably damaging Het
Fbxl7 T A 15: 26,543,507 (GRCm39) Y380F probably damaging Het
Gm3336 A G 8: 71,173,110 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5134 T C 10: 75,812,200 (GRCm39) Y152H probably damaging Het
Gm6899 A G 11: 26,543,795 (GRCm39) probably benign Het
Gna11 T C 10: 81,380,707 (GRCm39) K19E probably benign Het
Gpr15 C A 16: 58,538,248 (GRCm39) L280F probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Ino80d C A 1: 63,125,488 (GRCm39) probably benign Het
Irak3 T G 10: 119,981,687 (GRCm39) K406T probably damaging Het
Kif15 G A 9: 122,828,275 (GRCm39) C634Y probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Macrod2 A T 2: 140,237,636 (GRCm39) E14V probably damaging Het
Matn3 T A 12: 9,005,374 (GRCm39) D261E probably benign Het
Mdga1 A T 17: 30,076,710 (GRCm39) probably benign Het
Natd1 G T 11: 60,804,482 (GRCm39) R24S probably benign Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Or5b101 A T 19: 13,004,776 (GRCm39) S306T probably benign Het
Parp9 T A 16: 35,774,106 (GRCm39) Y81* probably null Het
Pde4d A G 13: 109,877,007 (GRCm39) N73S probably benign Het
Pigb A T 9: 72,941,872 (GRCm39) I129N probably damaging Het
Plxnb1 C A 9: 108,940,761 (GRCm39) probably null Het
Ramp3 T A 11: 6,608,619 (GRCm39) L16Q unknown Het
Slc35a4 T C 18: 36,815,688 (GRCm39) S173P probably benign Het
Slc41a1 T C 1: 131,772,115 (GRCm39) V415A probably damaging Het
Smarcc2 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 10: 128,323,231 (GRCm39) probably benign Het
Snph G A 2: 151,442,307 (GRCm39) R43W probably benign Het
Sptan1 A T 2: 29,883,736 (GRCm39) probably benign Het
Supt20 C A 3: 54,616,506 (GRCm39) H254Q probably benign Het
Taar7a A G 10: 23,869,046 (GRCm39) C112R probably damaging Het
Tbc1d4 T C 14: 101,745,008 (GRCm39) Y206C probably damaging Het
Tecta A G 9: 42,248,504 (GRCm39) V1961A probably damaging Het
Tgfbr1 T A 4: 47,383,948 (GRCm39) Y30* probably null Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tnfrsf1b C A 4: 144,954,067 (GRCm39) C94F probably damaging Het
Ttn A G 2: 76,579,740 (GRCm39) Y23718H probably damaging Het
Ube2i T C 17: 25,484,268 (GRCm39) probably benign Het
Vmn2r16 G T 5: 109,478,391 (GRCm39) V49F probably benign Het
Vps45 A G 3: 95,953,683 (GRCm39) I223T possibly damaging Het
Zfp955a T C 17: 33,461,592 (GRCm39) Y180C probably benign Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Zscan18 T A 7: 12,509,216 (GRCm39) 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
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
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'- CTCTCTCGGGCACAGTGATATG -3'
(R):5'- ACCAACCTTCACTTTGGCAG -3'

Sequencing Primer
(F):5'- GGTTTAGTTCTCAGTACCCACATGG -3'
(R):5'- ACTTTGGCAGTGGCTGTTAGC -3'
Posted On 2016-07-06