Incidental Mutation 'R0037:Ppfia4'
ID 15755
Institutional Source Beutler Lab
Gene Symbol Ppfia4
Ensembl Gene ENSMUSG00000026458
Gene Name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4
Synonyms Liprin-alpha4, 1110008G13Rik, Gm3812, LOC100042382
MMRRC Submission 038331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R0037 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 134224521-134260666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134251827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 449 (L449Q)
Ref Sequence ENSEMBL: ENSMUSP00000128314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168515] [ENSMUST00000186730] [ENSMUST00000189361]
AlphaFold B8QI36
Predicted Effect probably damaging
Transcript: ENSMUST00000168515
AA Change: L449Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: L449Q

DomainStartEndE-ValueType
coiled coil region 22 127 N/A INTRINSIC
coiled coil region 225 474 N/A INTRINSIC
coiled coil region 567 611 N/A INTRINSIC
low complexity region 629 645 N/A INTRINSIC
low complexity region 731 744 N/A INTRINSIC
SAM 826 895 1.17e-9 SMART
SAM 941 1008 1.69e-6 SMART
SAM 1029 1101 4.87e-7 SMART
low complexity region 1154 1167 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186730
AA Change: L166Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: L166Q

DomainStartEndE-ValueType
coiled coil region 1 191 N/A INTRINSIC
coiled coil region 284 328 N/A INTRINSIC
low complexity region 346 362 N/A INTRINSIC
low complexity region 448 461 N/A INTRINSIC
SAM 543 612 7e-12 SMART
SAM 649 716 1e-8 SMART
SAM 737 809 2.8e-9 SMART
low complexity region 862 875 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189361
AA Change: L449Q

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: L449Q

DomainStartEndE-ValueType
coiled coil region 22 127 N/A INTRINSIC
coiled coil region 225 474 N/A INTRINSIC
coiled coil region 567 611 N/A INTRINSIC
low complexity region 629 645 N/A INTRINSIC
low complexity region 731 744 N/A INTRINSIC
SAM 826 895 7e-12 SMART
SAM 941 1008 1e-8 SMART
SAM 1029 1101 2.8e-9 SMART
low complexity region 1154 1167 N/A INTRINSIC
Meta Mutation Damage Score 0.1081 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,769,891 (GRCm39) R330Q possibly damaging Het
Amph A T 13: 19,284,823 (GRCm39) S250C possibly damaging Het
Ankrd61 T C 5: 143,831,795 (GRCm39) N3S probably damaging Het
Camsap2 C T 1: 136,209,630 (GRCm39) E621K probably damaging Het
Cpt2 A G 4: 107,765,171 (GRCm39) S152P probably damaging Het
Csmd1 T A 8: 15,967,248 (GRCm39) Q3205L probably damaging Het
Dag1 G T 9: 108,084,552 (GRCm39) P863Q probably damaging Het
Dclk1 A G 3: 55,163,480 (GRCm39) I191V probably benign Het
Ddhd1 A G 14: 45,847,967 (GRCm39) L567P probably damaging Het
Enox1 T C 14: 77,936,750 (GRCm39) probably benign Het
Exoc3 T C 13: 74,347,658 (GRCm39) E104G probably damaging Het
Foxp1 T A 6: 99,139,930 (GRCm39) Q17L probably damaging Het
Fscn1 A G 5: 142,956,449 (GRCm39) probably benign Het
Fut8 T C 12: 77,411,811 (GRCm39) V91A probably benign Het
Gm5475 T A 15: 100,322,083 (GRCm39) Y77* probably null Het
Gm5800 T C 14: 51,953,605 (GRCm39) probably benign Het
Hs2st1 T A 3: 144,143,405 (GRCm39) K213* probably null Het
Il5ra T A 6: 106,719,647 (GRCm39) Y62F probably damaging Het
Inpp5d A G 1: 87,635,851 (GRCm39) E734G probably damaging Het
Insig2 A T 1: 121,234,649 (GRCm39) C194S probably damaging Het
Lemd3 A C 10: 120,761,361 (GRCm39) H898Q possibly damaging Het
Lrp4 A G 2: 91,301,548 (GRCm39) T43A probably benign Het
Mast3 C T 8: 71,236,343 (GRCm39) probably null Het
Melk T C 4: 44,360,864 (GRCm39) probably benign Het
Myo10 C T 15: 25,666,618 (GRCm39) probably benign Het
Nlrc5 G A 8: 95,216,163 (GRCm39) V967M probably benign Het
Nlrp9b T A 7: 19,757,647 (GRCm39) F295I probably damaging Het
Phf3 A T 1: 30,843,999 (GRCm39) D1653E probably benign Het
Ppp1r16b T A 2: 158,599,129 (GRCm39) I367N probably damaging Het
Ralgapb T C 2: 158,279,331 (GRCm39) L139S probably damaging Het
Slc20a1 T C 2: 129,052,692 (GRCm39) V658A probably damaging Het
Son C A 16: 91,461,616 (GRCm39) A347E probably damaging Het
Tprg1l C A 4: 154,244,594 (GRCm39) V134L possibly damaging Het
Trim24 A T 6: 37,934,484 (GRCm39) N733I probably damaging Het
Uggt1 A T 1: 36,225,013 (GRCm39) D540E probably benign Het
Urb2 T A 8: 124,773,934 (GRCm39) F1488L probably damaging Het
Utp20 T C 10: 88,634,266 (GRCm39) D810G probably benign Het
Zfp473 T A 7: 44,383,324 (GRCm39) K335N probably damaging Het
Other mutations in Ppfia4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Ppfia4 APN 1 134,255,824 (GRCm39) missense probably benign 0.00
IGL01935:Ppfia4 APN 1 134,245,674 (GRCm39) missense probably benign 0.02
IGL02008:Ppfia4 APN 1 134,260,129 (GRCm39) missense probably damaging 1.00
R0084:Ppfia4 UTSW 1 134,227,164 (GRCm39) missense possibly damaging 0.84
R0108:Ppfia4 UTSW 1 134,251,955 (GRCm39) splice site probably null
R0109:Ppfia4 UTSW 1 134,251,955 (GRCm39) splice site probably null
R0109:Ppfia4 UTSW 1 134,251,955 (GRCm39) splice site probably null
R0238:Ppfia4 UTSW 1 134,256,927 (GRCm39) missense possibly damaging 0.89
R0238:Ppfia4 UTSW 1 134,256,927 (GRCm39) missense possibly damaging 0.89
R0239:Ppfia4 UTSW 1 134,256,927 (GRCm39) missense possibly damaging 0.89
R0239:Ppfia4 UTSW 1 134,256,927 (GRCm39) missense possibly damaging 0.89
R0254:Ppfia4 UTSW 1 134,251,962 (GRCm39) splice site probably benign
R0445:Ppfia4 UTSW 1 134,255,027 (GRCm39) missense probably benign 0.31
R0504:Ppfia4 UTSW 1 134,251,851 (GRCm39) missense probably damaging 1.00
R0617:Ppfia4 UTSW 1 134,256,518 (GRCm39) missense probably damaging 1.00
R0839:Ppfia4 UTSW 1 134,256,545 (GRCm39) missense probably null 1.00
R0849:Ppfia4 UTSW 1 134,247,110 (GRCm39) missense probably benign 0.45
R0898:Ppfia4 UTSW 1 134,248,864 (GRCm39) missense probably benign
R1173:Ppfia4 UTSW 1 134,260,021 (GRCm39) splice site probably benign
R1728:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1729:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1730:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1762:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1783:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1784:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1785:Ppfia4 UTSW 1 134,227,059 (GRCm39) missense probably benign 0.00
R1812:Ppfia4 UTSW 1 134,252,311 (GRCm39) missense probably benign 0.04
R2148:Ppfia4 UTSW 1 134,240,372 (GRCm39) missense probably benign 0.25
R2160:Ppfia4 UTSW 1 134,241,461 (GRCm39) missense probably benign 0.40
R2308:Ppfia4 UTSW 1 134,260,135 (GRCm39) missense possibly damaging 0.94
R2421:Ppfia4 UTSW 1 134,255,138 (GRCm39) missense probably benign 0.00
R3694:Ppfia4 UTSW 1 134,240,305 (GRCm39) missense probably damaging 1.00
R3707:Ppfia4 UTSW 1 134,237,398 (GRCm39) missense probably damaging 0.99
R3708:Ppfia4 UTSW 1 134,237,398 (GRCm39) missense probably damaging 0.99
R3725:Ppfia4 UTSW 1 134,241,449 (GRCm39) missense probably benign 0.04
R3964:Ppfia4 UTSW 1 134,250,754 (GRCm39) missense probably benign
R4889:Ppfia4 UTSW 1 134,228,252 (GRCm39) missense probably damaging 1.00
R4909:Ppfia4 UTSW 1 134,260,239 (GRCm39) missense probably damaging 0.97
R4939:Ppfia4 UTSW 1 134,255,817 (GRCm39) missense possibly damaging 0.67
R5226:Ppfia4 UTSW 1 134,232,024 (GRCm39) critical splice donor site probably null
R5433:Ppfia4 UTSW 1 134,245,632 (GRCm39) missense probably damaging 1.00
R5576:Ppfia4 UTSW 1 134,250,788 (GRCm39) missense possibly damaging 0.81
R5727:Ppfia4 UTSW 1 134,251,815 (GRCm39) critical splice donor site probably null
R5793:Ppfia4 UTSW 1 134,239,844 (GRCm39) missense probably damaging 1.00
R6193:Ppfia4 UTSW 1 134,251,899 (GRCm39) missense probably benign 0.04
R6216:Ppfia4 UTSW 1 134,256,921 (GRCm39) missense probably damaging 1.00
R6679:Ppfia4 UTSW 1 134,237,417 (GRCm39) missense probably damaging 1.00
R6742:Ppfia4 UTSW 1 134,256,909 (GRCm39) missense probably damaging 1.00
R7039:Ppfia4 UTSW 1 134,239,853 (GRCm39) missense probably damaging 0.97
R7206:Ppfia4 UTSW 1 134,255,127 (GRCm39) missense probably benign 0.00
R7259:Ppfia4 UTSW 1 134,240,838 (GRCm39) missense probably damaging 1.00
R7454:Ppfia4 UTSW 1 134,251,873 (GRCm39) missense possibly damaging 0.87
R8139:Ppfia4 UTSW 1 134,228,266 (GRCm39) missense probably benign 0.01
R8878:Ppfia4 UTSW 1 134,227,122 (GRCm39) missense
R8970:Ppfia4 UTSW 1 134,252,289 (GRCm39) missense probably damaging 1.00
R9065:Ppfia4 UTSW 1 134,251,893 (GRCm39) missense possibly damaging 0.71
R9087:Ppfia4 UTSW 1 134,240,326 (GRCm39) missense probably damaging 1.00
R9187:Ppfia4 UTSW 1 134,255,006 (GRCm39) missense probably damaging 0.99
R9308:Ppfia4 UTSW 1 134,245,556 (GRCm39) missense probably benign 0.30
R9424:Ppfia4 UTSW 1 134,247,044 (GRCm39) missense possibly damaging 0.67
R9522:Ppfia4 UTSW 1 134,240,886 (GRCm39) missense probably damaging 1.00
R9687:Ppfia4 UTSW 1 134,245,694 (GRCm39) missense probably benign 0.01
Z1176:Ppfia4 UTSW 1 134,255,117 (GRCm39) missense probably benign 0.09
Posted On 2012-12-21