Incidental Mutation 'R4939:Ppfia4'
ID 382879
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 042538-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R4939 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134224521-134260666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134255817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 196 (L196Q)
Ref Sequence ENSEMBL: ENSMUSP00000139833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168515] [ENSMUST00000186730] [ENSMUST00000189361]
AlphaFold B8QI36
Predicted Effect probably benign
Transcript: ENSMUST00000168515
AA Change: L196Q

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: L196Q

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: L196Q

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: L196Q

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,161,962 (GRCm39) Y365F possibly damaging Het
Atp2a1 T C 7: 126,049,288 (GRCm39) M585V probably benign Het
Brca1 A G 11: 101,398,876 (GRCm39) V1572A probably benign Het
C1ql4 A T 15: 98,985,521 (GRCm39) M30K probably damaging Het
Ccdc73 A G 2: 104,822,502 (GRCm39) probably null Het
Cdk6 A T 5: 3,394,377 (GRCm39) D4V probably null Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Clic4 T C 4: 134,950,852 (GRCm39) E113G probably benign Het
Creld1 C A 6: 113,465,140 (GRCm39) H122Q probably benign Het
Cyp4a29 G A 4: 115,104,873 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,530,144 (GRCm39) S246R probably damaging Het
Dnah12 A T 14: 26,613,481 (GRCm39) T3925S probably damaging Het
Dnajc21 T A 15: 10,449,683 (GRCm39) D446V probably damaging Het
Dock8 A T 19: 25,099,764 (GRCm39) Y629F probably damaging Het
Duxf4 T C 10: 58,071,425 (GRCm39) N263S probably benign Het
E2f8 A T 7: 48,521,886 (GRCm39) N405K probably benign Het
Flg A G 3: 93,187,154 (GRCm39) N202S probably benign Het
Glyatl3 A G 17: 41,220,914 (GRCm39) probably null Het
Gm38999 A G 7: 43,077,885 (GRCm39) T63A possibly damaging Het
Grap A G 11: 61,551,124 (GRCm39) Y52C probably damaging Het
Haus2 T A 2: 120,449,517 (GRCm39) I187K probably damaging Het
Heatr5b T C 17: 79,069,689 (GRCm39) E1686G probably benign Het
Herc2 A G 7: 55,856,484 (GRCm39) D3944G probably damaging Het
Hexd A T 11: 121,098,542 (GRCm39) M9L probably benign Het
Hoxa3 T C 6: 52,147,656 (GRCm39) probably benign Het
Hspg2 A T 4: 137,235,342 (GRCm39) I126F probably damaging Het
Itpr1 T A 6: 108,417,519 (GRCm39) C123* probably null Het
Jmjd1c T A 10: 67,081,916 (GRCm39) N2346K possibly damaging Het
Kctd9 A G 14: 67,967,135 (GRCm39) Y37C probably damaging Het
Kmt5b A C 19: 3,865,245 (GRCm39) S747R possibly damaging Het
Krt26 T C 11: 99,225,522 (GRCm39) M320V probably benign Het
Lama1 T G 17: 68,044,470 (GRCm39) V123G possibly damaging Het
Lamc2 T C 1: 153,002,582 (GRCm39) D1103G probably damaging Het
Lepr A T 4: 101,590,635 (GRCm39) K71I possibly damaging Het
Llgl1 A T 11: 60,600,805 (GRCm39) probably null Het
Mcoln2 A T 3: 145,897,996 (GRCm39) H39L probably benign Het
Mtrex T C 13: 113,046,426 (GRCm39) D308G possibly damaging Het
Myh11 T A 16: 14,057,371 (GRCm39) T315S probably benign Het
Ncapd3 T C 9: 26,975,165 (GRCm39) probably null Het
Nlrp9b G T 7: 19,758,421 (GRCm39) V553F probably damaging Het
Nubpl A G 12: 52,227,878 (GRCm39) N129S probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or10j3 T C 1: 173,031,030 (GRCm39) Y36H possibly damaging Het
Or2t46 G T 11: 58,472,037 (GRCm39) M122I probably damaging Het
Or2y17 A G 11: 49,231,376 (GRCm39) T6A probably benign Het
Or4d1 G T 11: 87,804,950 (GRCm39) P261T probably damaging Het
Or52z14 T C 7: 103,253,458 (GRCm39) V199A probably benign Het
Or5b3 T A 19: 13,388,219 (GRCm39) N95K probably benign Het
Orc3 G A 4: 34,593,126 (GRCm39) Q256* probably null Het
Pbrm1 A G 14: 30,783,580 (GRCm39) M566V probably damaging Het
Pde6b A G 5: 108,569,363 (GRCm39) I357V probably benign Het
Pkdrej A G 15: 85,704,484 (GRCm39) I484T possibly damaging Het
Plvap A G 8: 71,964,083 (GRCm39) V93A probably benign Het
Plxna4 T C 6: 32,142,697 (GRCm39) Y1586C probably damaging Het
Ptpn13 T G 5: 103,665,335 (GRCm39) probably null Het
Ranbp17 T C 11: 33,169,223 (GRCm39) N997S probably benign Het
Rpap2 G T 5: 107,751,491 (GRCm39) probably null Het
Rrm1 T C 7: 102,116,131 (GRCm39) V683A probably benign Het
Ruvbl1 A G 6: 88,460,021 (GRCm39) probably null Het
Sh3pxd2a A G 19: 47,266,843 (GRCm39) Y277H probably damaging Het
Shank1 C T 7: 43,975,586 (GRCm39) P477S unknown Het
Shtn1 T C 19: 59,010,633 (GRCm39) E278G probably benign Het
Skap2 T A 6: 51,899,303 (GRCm39) I109F possibly damaging Het
Slc28a3 A C 13: 58,706,395 (GRCm39) I615M probably benign Het
Slc4a11 A G 2: 130,526,788 (GRCm39) L780P probably damaging Het
Slc5a4b T C 10: 75,917,301 (GRCm39) E245G probably benign Het
Slfn8 C T 11: 82,894,111 (GRCm39) A843T probably benign Het
Sncaip A T 18: 53,040,335 (GRCm39) Q843L possibly damaging Het
Spidr T A 16: 15,958,610 (GRCm39) K51* probably null Het
Spopfm2 A T 3: 94,083,540 (GRCm39) Y90* probably null Het
Tas2r123 T C 6: 132,824,808 (GRCm39) V235A probably benign Het
Tgfbr3 T C 5: 107,278,335 (GRCm39) D757G probably benign Het
Tmem132d A T 5: 127,873,139 (GRCm39) V490D probably damaging Het
Top2a T A 11: 98,900,918 (GRCm39) H557L probably damaging Het
Trafd1 A G 5: 121,513,254 (GRCm39) I328T probably benign Het
Trappc11 G A 8: 47,972,700 (GRCm39) A291V probably damaging Het
Tuba1c A G 15: 98,935,835 (GRCm39) Y432C probably damaging Het
Utp11 T G 4: 124,577,043 (GRCm39) R109S possibly damaging Het
Vmn1r159 T G 7: 22,542,316 (GRCm39) T239P probably damaging Het
Vwce A T 19: 10,622,414 (GRCm39) N239Y probably damaging Het
Yes1 T C 5: 32,802,457 (GRCm39) probably null Het
Zfand6 A C 7: 84,265,030 (GRCm39) *224G probably null Het
Zfp408 A T 2: 91,475,450 (GRCm39) I668N probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp946 T C 17: 22,674,418 (GRCm39) F391L 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
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
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'- TTAAAGCCATAGCCAGCTGAGC -3'
(R):5'- TACCTTGGAGGAGCAGTTGG -3'

Sequencing Primer
(F):5'- ATAGCCAGCTGAGCCCAGG -3'
(R):5'- TGCACTGTCCCTCTGAGAAAG -3'
Posted On 2016-04-27