Incidental Mutation 'IGL01771:Ppfia1'
ID 153838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppfia1
Ensembl Gene ENSMUSG00000037519
Gene Name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Synonyms Liprin-alpha1, liprin, C030014K08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # IGL01771
Quality Score
Status
Chromosome 7
Chromosomal Location 144030495-144107466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144036094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 1112 (I1112K)
Ref Sequence ENSEMBL: ENSMUSP00000126233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168134] [ENSMUST00000182226]
AlphaFold B2RXQ2
Predicted Effect probably benign
Transcript: ENSMUST00000168134
AA Change: I1112K

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: I1112K

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
coiled coil region 36 137 N/A INTRINSIC
coiled coil region 250 517 N/A INTRINSIC
low complexity region 594 607 N/A INTRINSIC
coiled coil region 621 667 N/A INTRINSIC
low complexity region 681 703 N/A INTRINSIC
low complexity region 750 760 N/A INTRINSIC
low complexity region 791 799 N/A INTRINSIC
SAM 884 953 5.22e-7 SMART
low complexity region 954 966 N/A INTRINSIC
SAM 999 1066 3.89e-6 SMART
SAM 1087 1159 1.14e-7 SMART
low complexity region 1207 1218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182226
AA Change: I1137K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: I1137K

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
coiled coil region 36 137 N/A INTRINSIC
coiled coil region 250 389 N/A INTRINSIC
coiled coil region 411 542 N/A INTRINSIC
low complexity region 619 632 N/A INTRINSIC
coiled coil region 646 692 N/A INTRINSIC
low complexity region 706 728 N/A INTRINSIC
low complexity region 775 785 N/A INTRINSIC
low complexity region 816 824 N/A INTRINSIC
SAM 909 978 5.22e-7 SMART
low complexity region 979 991 N/A INTRINSIC
SAM 1024 1091 3.89e-6 SMART
SAM 1112 1184 1.14e-7 SMART
low complexity region 1232 1243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207471
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. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,868,087 (GRCm39) W185R probably damaging Het
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Klk1b8 A T 7: 43,604,290 (GRCm39) I253L probably damaging Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or1e29 A T 11: 73,667,490 (GRCm39) I221N probably damaging Het
Or5ac22 T C 16: 59,134,891 (GRCm39) N293S probably damaging Het
Or8k40 C T 2: 86,584,626 (GRCm39) C152Y probably benign Het
Pdp2 A T 8: 105,320,754 (GRCm39) Y201F probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Ppfia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Ppfia1 APN 7 144,035,456 (GRCm39) missense probably benign 0.00
IGL02220:Ppfia1 APN 7 144,035,512 (GRCm39) missense probably damaging 1.00
IGL02683:Ppfia1 APN 7 144,067,095 (GRCm39) missense probably damaging 0.99
IGL02752:Ppfia1 APN 7 144,073,341 (GRCm39) missense probably benign
PIT1430001:Ppfia1 UTSW 7 144,052,073 (GRCm39) missense probably damaging 1.00
R0081:Ppfia1 UTSW 7 144,058,711 (GRCm39) missense probably damaging 1.00
R0304:Ppfia1 UTSW 7 144,036,082 (GRCm39) missense probably damaging 1.00
R0359:Ppfia1 UTSW 7 144,038,929 (GRCm39) missense probably damaging 0.97
R1836:Ppfia1 UTSW 7 144,073,368 (GRCm39) missense probably benign 0.19
R1934:Ppfia1 UTSW 7 144,058,847 (GRCm39) missense probably benign 0.12
R2195:Ppfia1 UTSW 7 144,069,844 (GRCm39) missense probably damaging 1.00
R3759:Ppfia1 UTSW 7 144,069,739 (GRCm39) missense probably benign 0.34
R3843:Ppfia1 UTSW 7 144,058,707 (GRCm39) missense probably benign 0.31
R4606:Ppfia1 UTSW 7 144,038,929 (GRCm39) missense probably damaging 0.97
R4820:Ppfia1 UTSW 7 144,052,106 (GRCm39) missense probably benign 0.33
R4898:Ppfia1 UTSW 7 144,045,313 (GRCm39) missense probably damaging 1.00
R5069:Ppfia1 UTSW 7 144,068,210 (GRCm39) nonsense probably null
R5070:Ppfia1 UTSW 7 144,068,210 (GRCm39) nonsense probably null
R5076:Ppfia1 UTSW 7 144,060,001 (GRCm39) missense probably damaging 1.00
R5280:Ppfia1 UTSW 7 144,038,832 (GRCm39) missense possibly damaging 0.84
R5473:Ppfia1 UTSW 7 144,045,229 (GRCm39) missense probably benign 0.17
R5656:Ppfia1 UTSW 7 144,073,711 (GRCm39) critical splice donor site probably null
R5818:Ppfia1 UTSW 7 144,074,305 (GRCm39) intron probably benign
R6104:Ppfia1 UTSW 7 144,045,311 (GRCm39) missense possibly damaging 0.95
R6299:Ppfia1 UTSW 7 144,064,049 (GRCm39) missense probably benign 0.11
R6474:Ppfia1 UTSW 7 144,059,942 (GRCm39) missense possibly damaging 0.89
R6705:Ppfia1 UTSW 7 144,072,911 (GRCm39) missense possibly damaging 0.93
R6734:Ppfia1 UTSW 7 144,032,790 (GRCm39) missense probably damaging 1.00
R7062:Ppfia1 UTSW 7 144,106,210 (GRCm39) missense probably benign
R7451:Ppfia1 UTSW 7 144,061,947 (GRCm39) missense probably benign
R7514:Ppfia1 UTSW 7 144,071,450 (GRCm39) missense probably benign 0.01
R7552:Ppfia1 UTSW 7 144,059,982 (GRCm39) missense probably damaging 1.00
R7633:Ppfia1 UTSW 7 144,106,173 (GRCm39) missense possibly damaging 0.89
R7886:Ppfia1 UTSW 7 144,073,020 (GRCm39) missense probably benign
R8038:Ppfia1 UTSW 7 144,068,653 (GRCm39) missense possibly damaging 0.67
R8139:Ppfia1 UTSW 7 144,074,430 (GRCm39) missense probably damaging 1.00
R8266:Ppfia1 UTSW 7 144,068,231 (GRCm39) missense possibly damaging 0.72
R8859:Ppfia1 UTSW 7 144,032,762 (GRCm39) critical splice donor site probably null
R9621:Ppfia1 UTSW 7 144,052,516 (GRCm39) missense probably damaging 1.00
R9722:Ppfia1 UTSW 7 144,071,402 (GRCm39) missense probably benign 0.26
Posted On 2014-02-04