Incidental Mutation 'R0239:Ppfia4'
ID 37168
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 038477-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R0239 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134224521-134260666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134256927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 98 (E98G)
Ref Sequence ENSEMBL: ENSMUSP00000139833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168515] [ENSMUST00000186730] [ENSMUST00000189361]
AlphaFold B8QI36
Predicted Effect possibly damaging
Transcript: ENSMUST00000168515
AA Change: E98G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: E98G

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 benign
Transcript: ENSMUST00000186730
SMART Domains Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458

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: E98G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: E98G

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 0.1547 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.9%
Validation Efficiency 100% (3/3)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik TTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCC 3: 137,771,595 (GRCm39) probably benign Het
Adra1d C A 2: 131,388,134 (GRCm39) V474F probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Ash1l A G 3: 88,974,529 (GRCm39) D2618G possibly damaging Het
Atp6v1c2 C A 12: 17,344,676 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Camta1 A G 4: 151,228,187 (GRCm39) W882R probably damaging Het
Cd72 A G 4: 43,453,163 (GRCm39) V91A probably benign Het
Cdh12 T C 15: 21,586,493 (GRCm39) W771R probably damaging Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
D3Ertd751e A G 3: 41,708,313 (GRCm39) Y150C probably damaging Het
Depdc5 T C 5: 33,100,584 (GRCm39) S832P probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Elp1 C A 4: 56,784,596 (GRCm39) V466L probably benign Het
Espnl T C 1: 91,250,009 (GRCm39) V52A probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gemin6 C A 17: 80,533,139 (GRCm39) A24D probably damaging Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hyal5 T A 6: 24,876,343 (GRCm39) L72Q probably damaging Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Kbtbd3 G T 9: 4,330,144 (GRCm39) V173L possibly damaging Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Nacc2 T G 2: 25,952,273 (GRCm39) N361T probably damaging Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nipal4 A G 11: 46,041,268 (GRCm39) V309A possibly damaging Het
Nomo1 T C 7: 45,729,018 (GRCm39) probably null Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Nwd2 A T 5: 63,957,467 (GRCm39) I266F probably benign Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pah C T 10: 87,403,143 (GRCm39) P173S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plekha4 A G 7: 45,181,782 (GRCm39) H62R probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ptk2 A T 15: 73,215,132 (GRCm39) probably null Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Scai T A 2: 38,965,054 (GRCm39) I597F probably benign Het
Sirpd A G 3: 15,361,661 (GRCm39) L163P probably damaging Het
Slc35c2 C T 2: 165,122,757 (GRCm39) G176S probably damaging Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d31 C A 15: 57,804,149 (GRCm39) T388N probably benign Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tmem79 A G 3: 88,240,628 (GRCm39) S107P probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Tsnaxip1 T A 8: 106,571,120 (GRCm39) I660N possibly damaging Het
Ube2q2 T C 9: 55,070,291 (GRCm39) S78P probably damaging Het
Vac14 A T 8: 111,362,007 (GRCm39) probably null Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp532 A T 18: 65,816,056 (GRCm39) I810F possibly damaging Het
Zfp599 C T 9: 22,161,055 (GRCm39) C370Y 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
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
Predicted Primers PCR Primer
(F):5'- GGCATTCCAGATGTTCCAGAAGCAG -3'
(R):5'- TCACCTCCAGTAGTTCCCGATAGC -3'

Sequencing Primer
(F):5'- AGCTGCTCCTCCATTAAACAG -3'
(R):5'- AGCTGTAGGCTTCCTGCAC -3'
Posted On 2013-05-09