Incidental Mutation 'R3725:Ppfia4'
ID 270712
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 040716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R3725 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134224521-134260666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134241449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 502 (D502G)
Ref Sequence ENSEMBL: ENSMUSP00000139800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168515] [ENSMUST00000186730] [ENSMUST00000189361]
AlphaFold B8QI36
Predicted Effect probably benign
Transcript: ENSMUST00000168515
AA Change: D785G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: D785G

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 noncoding transcript
Transcript: ENSMUST00000186553
Predicted Effect probably benign
Transcript: ENSMUST00000186730
AA Change: D502G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: D502G

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 probably benign
Transcript: ENSMUST00000189361
AA Change: D785G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: D785G

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 0.0923 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,563,781 (GRCm39) R740S possibly damaging Het
Adamtsl3 A C 7: 82,261,612 (GRCm39) D1676A possibly damaging Het
Atp6v1a A G 16: 43,922,120 (GRCm39) probably benign Het
Camsap3 T C 8: 3,653,785 (GRCm39) L485P probably damaging Het
Ccdc81 A T 7: 89,515,838 (GRCm39) F614I possibly damaging Het
Cdk5rap2 C A 4: 70,153,674 (GRCm39) K1716N possibly damaging Het
Cfap47 T A X: 78,553,621 (GRCm39) T285S probably damaging Het
Cfh T C 1: 140,014,234 (GRCm39) M1197V probably damaging Het
Cyp3a11 A G 5: 145,802,810 (GRCm39) F228L probably benign Het
Ddx24 A G 12: 103,383,864 (GRCm39) M575T probably benign Het
Dhx36 A T 3: 62,395,643 (GRCm39) probably benign Het
Dmxl2 T A 9: 54,301,053 (GRCm39) I1554L probably damaging Het
Dsp A G 13: 38,378,665 (GRCm39) probably null Het
Dsp A G 13: 38,381,594 (GRCm39) S2181G probably benign Het
Epg5 T C 18: 78,060,894 (GRCm39) I1959T probably benign Het
Fam135a T A 1: 24,096,515 (GRCm39) K77* probably null Het
Fam209 T C 2: 172,315,915 (GRCm39) S97P probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Fzd5 A G 1: 64,775,498 (GRCm39) S88P probably damaging Het
Galnt12 A T 4: 47,104,140 (GRCm39) T133S probably damaging Het
Gja8 A G 3: 96,827,161 (GRCm39) L167P probably damaging Het
Gm8730 T C 8: 103,591,664 (GRCm39) noncoding transcript Het
Gsdmd A G 15: 75,737,939 (GRCm39) D247G probably benign Het
Iqcg A G 16: 32,840,909 (GRCm39) probably null Het
Lamb1 C T 12: 31,371,074 (GRCm39) A1375V probably null Het
Mlip A G 9: 77,097,662 (GRCm39) S282P probably damaging Het
Nfxl1 A T 5: 72,674,405 (GRCm39) D831E probably damaging Het
Nipbl T C 15: 8,325,145 (GRCm39) D2506G probably damaging Het
Or6c212 A T 10: 129,558,984 (GRCm39) V143D probably damaging Het
Or7a39 T A 10: 78,715,766 (GRCm39) Y253* probably null Het
Pcdhb9 T C 18: 37,534,654 (GRCm39) L216P possibly damaging Het
Pigc G A 1: 161,798,860 (GRCm39) G281R possibly damaging Het
Polr3g C T 13: 81,842,754 (GRCm39) R87H probably damaging Het
Psg18 T A 7: 18,088,748 (GRCm39) probably benign Het
Rad9a G A 19: 4,247,694 (GRCm39) R179C probably damaging Het
Rxra A G 2: 27,644,289 (GRCm39) D327G probably damaging Het
Samd7 T C 3: 30,805,283 (GRCm39) V22A possibly damaging Het
Slc22a29 A T 19: 8,195,973 (GRCm39) V22D possibly damaging Het
Slmap C A 14: 26,148,397 (GRCm39) R671S probably damaging Het
Smarcal1 T C 1: 72,665,755 (GRCm39) F751S possibly damaging Het
Smarcb1 T A 10: 75,752,620 (GRCm39) K73N probably benign Het
Sptssa T C 12: 54,703,180 (GRCm39) E30G probably damaging Het
Stpg2 A G 3: 139,023,238 (GRCm39) K418R probably benign Het
Tasor2 T C 13: 3,640,538 (GRCm39) I200V probably benign Het
Tmem19 A G 10: 115,195,675 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmod1 T C 4: 46,097,026 (GRCm39) V273A probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Uggt1 A T 1: 36,221,588 (GRCm39) L43* probably null Het
Vmn1r205 A T 13: 22,776,671 (GRCm39) F144I probably damaging Het
Vmn2r54 G A 7: 12,366,223 (GRCm39) T237I probably benign Het
Vmn2r7 A T 3: 64,632,412 (GRCm39) F17I possibly damaging Het
Vpreb3 G A 10: 75,779,125 (GRCm39) probably null Het
Vps13d T A 4: 144,842,218 (GRCm39) probably benign Het
Zkscan5 A T 5: 145,157,723 (GRCm39) R742W 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
R0037:Ppfia4 UTSW 1 134,251,827 (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
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
Predicted Primers PCR Primer
(F):5'- AAGTCTTGCCGGACTCTATCTC -3'
(R):5'- CTGGAATGTGGAGACTTCGG -3'

Sequencing Primer
(F):5'- CTATCTCTCTGAGCTCAAAATGGGG -3'
(R):5'- AGACTTCGGGGGTAGCC -3'
Posted On 2015-03-18