Incidental Mutation 'IGL01063:Ppfibp1'
ID51234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppfibp1
Ensembl Gene ENSMUSG00000016487
Gene NamePTPRF interacting protein, binding protein 1 (liprin beta 1)
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.599) question?
Stock #IGL01063
Quality Score
Status
Chromosome6
Chromosomal Location146888487-147032025 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 147029697 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 917 (M917K)
Ref Sequence ENSEMBL: ENSMUSP00000107250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036194] [ENSMUST00000111623]
Predicted Effect probably benign
Transcript: ENSMUST00000016631
AA Change: M906K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: M906K

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: ENSMUST00000036194
SMART Domains Protein: ENSMUSP00000037503
Gene: ENSMUSG00000040121

DomainStartEndE-ValueType
Pfam:Rab15_effector 1 230 3.2e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111623
AA Change: M917K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: M917K

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
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
4930444P10Rik A T 1: 16,078,646 L61* probably null Het
Abca7 T C 10: 80,011,297 I1705T probably damaging Het
Ablim1 T A 19: 57,061,328 I393F probably damaging Het
Adamts5 A G 16: 85,899,834 L145P probably damaging Het
Ano6 T C 15: 95,948,429 I537T probably damaging Het
AU018091 T C 7: 3,162,313 I190V possibly damaging Het
Camk1 T A 6: 113,338,372 D155V probably damaging Het
Cdh6 A C 15: 13,064,495 I103S probably damaging Het
Cntnap1 A G 11: 101,181,788 D537G probably benign Het
Col6a3 T C 1: 90,802,332 K1144E probably damaging Het
Cpeb1 T A 7: 81,372,181 E71D probably benign Het
Cps1 T C 1: 67,195,166 L904P possibly damaging Het
Cyfip1 T A 7: 55,904,210 F700I probably damaging Het
Dmp1 G A 5: 104,207,099 M1I probably null Het
Efcab6 A T 15: 84,054,512 M1K probably null Het
Extl2 A T 3: 116,027,482 H312L possibly damaging Het
Fat4 C A 3: 38,890,579 A1207D possibly damaging Het
Flnb T C 14: 7,926,518 probably benign Het
Hdac10 G T 15: 89,123,868 A593E possibly damaging Het
Hdhd2 T C 18: 76,965,273 probably null Het
Kcnq2 A G 2: 181,109,789 probably benign Het
Kdm7a A G 6: 39,165,130 F405L probably damaging Het
Lypd6b C A 2: 49,943,630 probably benign Het
Mki67 A T 7: 135,694,922 D2794E possibly damaging Het
Mtmr14 T A 6: 113,266,326 F40I probably damaging Het
Olfr131 G T 17: 38,082,653 S108R possibly damaging Het
Olfr213 T A 6: 116,541,007 C185S probably damaging Het
Olfr476 A T 7: 107,967,534 I46F probably damaging Het
Olfr986 A T 9: 40,187,756 I214F probably benign Het
Ppargc1a C A 5: 51,474,322 V322L probably benign Het
Prkg2 C T 5: 98,969,936 probably null Het
Rfx4 A G 10: 84,868,382 E296G possibly damaging Het
Rfx8 T A 1: 39,682,950 K292* probably null Het
Scamp3 C A 3: 89,177,666 probably benign Het
Scn4a A T 11: 106,330,364 I823N possibly damaging Het
Sdk2 A G 11: 113,830,842 V1316A probably damaging Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Stard8 G T X: 99,073,088 R983L probably damaging Het
Tbc1d23 A T 16: 57,192,675 D311E probably benign Het
Tex21 T C 12: 76,198,818 H568R probably benign Het
Tex35 T C 1: 157,105,097 probably benign Het
Tgs1 T A 4: 3,591,292 F442I possibly damaging Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Trim56 A T 5: 137,114,500 V54D possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp668 A T 7: 127,866,282 C577S probably damaging Het
Other mutations in Ppfibp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:Ppfibp1 APN 6 147022440 missense probably damaging 1.00
IGL02711:Ppfibp1 APN 6 147026238 nonsense probably null
IGL02737:Ppfibp1 APN 6 147027308 missense probably damaging 1.00
IGL02745:Ppfibp1 APN 6 147022354 unclassified probably benign
IGL03120:Ppfibp1 APN 6 146998169 missense probably benign 0.00
IGL03300:Ppfibp1 APN 6 147030327 missense probably damaging 1.00
R0114:Ppfibp1 UTSW 6 146998233 missense probably benign 0.04
R0480:Ppfibp1 UTSW 6 147019031 splice site probably null
R0699:Ppfibp1 UTSW 6 147026222 missense probably damaging 0.99
R1515:Ppfibp1 UTSW 6 147027432 missense probably benign
R1830:Ppfibp1 UTSW 6 147022259 critical splice donor site probably null
R1858:Ppfibp1 UTSW 6 146990592 missense probably benign 0.06
R2160:Ppfibp1 UTSW 6 147027453 missense probably damaging 0.98
R2389:Ppfibp1 UTSW 6 147022171 missense probably damaging 1.00
R2517:Ppfibp1 UTSW 6 146992444 missense probably damaging 1.00
R3882:Ppfibp1 UTSW 6 146998221 missense possibly damaging 0.67
R4035:Ppfibp1 UTSW 6 146996836 missense probably damaging 0.99
R4202:Ppfibp1 UTSW 6 147029581 missense probably damaging 1.00
R4205:Ppfibp1 UTSW 6 147029581 missense probably damaging 1.00
R4420:Ppfibp1 UTSW 6 147026238 nonsense probably null
R4860:Ppfibp1 UTSW 6 146990514 missense probably benign 0.01
R4860:Ppfibp1 UTSW 6 146990514 missense probably benign 0.01
R4974:Ppfibp1 UTSW 6 147030419 utr 3 prime probably benign
R5163:Ppfibp1 UTSW 6 147022131 splice site probably null
R5180:Ppfibp1 UTSW 6 147027321 missense probably damaging 1.00
R5388:Ppfibp1 UTSW 6 146996840 missense probably damaging 1.00
R5388:Ppfibp1 UTSW 6 147016330 missense probably damaging 1.00
R5458:Ppfibp1 UTSW 6 147012435 intron probably benign
R5479:Ppfibp1 UTSW 6 147030150 critical splice donor site probably null
R5631:Ppfibp1 UTSW 6 146996860 missense probably damaging 1.00
R6277:Ppfibp1 UTSW 6 147005924 missense probably benign 0.01
R6577:Ppfibp1 UTSW 6 146999655 splice site probably null
R6602:Ppfibp1 UTSW 6 146978221 missense possibly damaging 0.62
R7320:Ppfibp1 UTSW 6 146978053 missense probably damaging 1.00
R7440:Ppfibp1 UTSW 6 147019503 missense probably benign 0.01
R7455:Ppfibp1 UTSW 6 147016350 missense probably damaging 1.00
R7710:Ppfibp1 UTSW 6 146996405 missense probably benign 0.00
R8379:Ppfibp1 UTSW 6 147030345 missense probably damaging 1.00
R8439:Ppfibp1 UTSW 6 147000950 missense possibly damaging 0.94
R8692:Ppfibp1 UTSW 6 146990515 missense probably benign 0.00
Posted On2013-06-21