Incidental Mutation 'R6457:Ppfia2'
ID 516537
Institutional Source Beutler Lab
Gene Symbol Ppfia2
Ensembl Gene ENSMUSG00000053825
Gene Name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Synonyms Liprin-alpha2, E130120L08Rik
MMRRC Submission 044592-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6457 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 106305129-106769329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106729361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 903 (V903A)
Ref Sequence ENSEMBL: ENSMUSP00000029404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029404] [ENSMUST00000217854]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029404
AA Change: V903A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: V903A

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
coiled coil region 32 80 N/A INTRINSIC
coiled coil region 102 150 N/A INTRINSIC
coiled coil region 189 234 N/A INTRINSIC
coiled coil region 267 541 N/A INTRINSIC
low complexity region 576 587 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
coiled coil region 643 691 N/A INTRINSIC
low complexity region 702 725 N/A INTRINSIC
SAM 895 964 6.27e-10 SMART
low complexity region 965 977 N/A INTRINSIC
SAM 1017 1084 1.69e-6 SMART
SAM 1105 1177 6.62e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217854
AA Change: V904A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219024
Meta Mutation Damage Score 0.7348 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
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. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,383 (GRCm39) V524E probably damaging Het
Acer2 T A 4: 86,818,808 (GRCm39) M152K probably damaging Het
Actn3 T C 19: 4,921,876 (GRCm39) D130G probably damaging Het
Ank1 T A 8: 23,577,983 (GRCm39) F211Y probably damaging Het
Ankfn1 C T 11: 89,282,670 (GRCm39) A326T probably benign Het
Ankrd11 G A 8: 123,635,503 (GRCm39) R44C probably damaging Het
Ankrd46 A G 15: 36,484,217 (GRCm39) probably benign Het
Aurkb G A 11: 68,939,172 (GRCm39) E132K possibly damaging Het
Bsdc1 C T 4: 129,359,069 (GRCm39) T9I possibly damaging Het
Card14 C T 11: 119,230,428 (GRCm39) R767* probably null Het
Ccdc82 T A 9: 13,272,745 (GRCm39) F411L possibly damaging Het
Col12a1 C T 9: 79,552,973 (GRCm39) G2106D probably damaging Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cox10 A G 11: 63,855,198 (GRCm39) L361P probably damaging Het
Cox18 A G 5: 90,371,548 (GRCm39) I84T probably benign Het
Dhrs3 T C 4: 144,646,522 (GRCm39) S125P probably damaging Het
Fbxl15 A G 19: 46,317,765 (GRCm39) H149R probably benign Het
Flg2 T A 3: 93,127,789 (GRCm39) S2234T unknown Het
Gtf2e1 A C 16: 37,356,698 (GRCm39) probably null Het
H2-Q7 A T 17: 35,658,655 (GRCm39) S98C probably damaging Het
Hcn2 G T 10: 79,569,607 (GRCm39) E536* probably null Het
Kat6b A T 14: 21,720,748 (GRCm39) H1700L probably damaging Het
Klhl3 C T 13: 58,248,192 (GRCm39) V35I probably benign Het
Krt34 A T 11: 99,930,916 (GRCm39) L162Q probably damaging Het
Ly9 A G 1: 171,416,663 (GRCm39) S644P probably damaging Het
Magi1 A T 6: 93,676,620 (GRCm39) V685E probably damaging Het
Malrd1 A G 2: 15,531,408 (GRCm39) probably benign Het
Malrd1 A T 2: 15,672,740 (GRCm39) H599L probably benign Het
Matn2 T A 15: 34,426,380 (GRCm39) C631S probably damaging Het
Megf8 A T 7: 25,049,120 (GRCm39) D1739V probably damaging Het
Mlf1 G A 3: 67,300,277 (GRCm39) R98Q probably benign Het
Mprip T A 11: 59,649,815 (GRCm39) I1173K possibly damaging Het
Mrc1 A G 2: 14,275,016 (GRCm39) D439G probably damaging Het
Mroh5 A T 15: 73,662,691 (GRCm39) W208R probably damaging Het
Ms4a5 T G 19: 11,256,646 (GRCm39) I84L probably benign Het
Myt1 G A 2: 181,405,218 (GRCm39) probably null Het
Nbea T A 3: 55,907,990 (GRCm39) H1374L probably damaging Het
Nbeal1 T A 1: 60,292,633 (GRCm39) I1095K probably benign Het
Nolc1 A G 19: 46,071,509 (GRCm39) probably benign Het
Nr5a2 A G 1: 136,887,976 (GRCm39) L18P probably benign Het
Nup188 G T 2: 30,212,199 (GRCm39) C562F probably damaging Het
Obscn A G 11: 58,971,597 (GRCm39) V2415A probably damaging Het
Pacsin2 A T 15: 83,263,879 (GRCm39) probably null Het
Pias3 A G 3: 96,606,839 (GRCm39) H34R possibly damaging Het
Pramel1 T A 4: 143,123,275 (GRCm39) L84Q probably damaging Het
Pramel6 G A 2: 87,339,782 (GRCm39) C182Y probably damaging Het
Prdm4 A G 10: 85,743,896 (GRCm39) Y120H probably damaging Het
Prss28 A G 17: 25,530,331 (GRCm39) M212V probably benign Het
Rbp3 G T 14: 33,677,224 (GRCm39) G391* probably null Het
Rc3h2 C T 2: 37,301,151 (GRCm39) probably null Het
Ret A G 6: 118,150,582 (GRCm39) F645L probably benign Het
Saxo5 T C 8: 3,529,268 (GRCm39) L251P probably damaging Het
Sgsm2 A G 11: 74,755,995 (GRCm39) S402P possibly damaging Het
Shc3 T A 13: 51,636,915 (GRCm39) probably null Het
Slc25a16 A G 10: 62,776,938 (GRCm39) N246S probably benign Het
Snrpd1 T A 18: 10,623,694 (GRCm39) H26Q probably benign Het
Thsd1 A G 8: 22,733,363 (GRCm39) T137A probably damaging Het
Tnik A T 3: 28,593,597 (GRCm39) H151L probably damaging Het
Tns1 T A 1: 73,957,209 (GRCm39) K1725N probably damaging Het
Tomm40l T A 1: 171,048,161 (GRCm39) T147S probably damaging Het
Tomm6 G T 17: 47,998,932 (GRCm39) probably benign Het
Trp53 G A 11: 69,480,440 (GRCm39) C272Y probably damaging Het
Trpm7 A T 2: 126,649,214 (GRCm39) V1492E probably benign Het
Tsen2 G A 6: 115,536,592 (GRCm39) R116H probably benign Het
Uvrag A G 7: 98,555,726 (GRCm39) F456S probably damaging Het
Vmn1r86 A T 7: 12,836,279 (GRCm39) M199K possibly damaging Het
Vmn2r4 C T 3: 64,317,378 (GRCm39) C120Y probably damaging Het
Other mutations in Ppfia2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Ppfia2 APN 10 106,655,353 (GRCm39) missense probably benign 0.25
IGL01296:Ppfia2 APN 10 106,694,068 (GRCm39) missense probably damaging 0.98
IGL01385:Ppfia2 APN 10 106,749,560 (GRCm39) missense probably damaging 1.00
IGL01592:Ppfia2 APN 10 106,671,909 (GRCm39) splice site probably benign
IGL01899:Ppfia2 APN 10 106,751,612 (GRCm39) critical splice donor site probably null
IGL02063:Ppfia2 APN 10 106,740,706 (GRCm39) missense probably null 0.83
IGL02143:Ppfia2 APN 10 106,693,360 (GRCm39) missense probably damaging 1.00
IGL02170:Ppfia2 APN 10 106,636,646 (GRCm39) missense probably benign
IGL02565:Ppfia2 APN 10 106,699,247 (GRCm39) critical splice donor site probably null
IGL02573:Ppfia2 APN 10 106,664,789 (GRCm39) missense probably damaging 1.00
IGL02819:Ppfia2 APN 10 106,742,255 (GRCm39) missense probably damaging 1.00
IGL02974:Ppfia2 APN 10 106,636,637 (GRCm39) missense probably benign 0.08
IGL03165:Ppfia2 APN 10 106,603,348 (GRCm39) missense probably damaging 1.00
IGL03255:Ppfia2 APN 10 106,732,368 (GRCm39) missense possibly damaging 0.76
Colorless UTSW 10 106,749,455 (GRCm39) missense probably damaging 1.00
PIT4458001:Ppfia2 UTSW 10 106,763,708 (GRCm39) missense probably benign 0.24
R0018:Ppfia2 UTSW 10 106,678,647 (GRCm39) splice site probably benign
R0018:Ppfia2 UTSW 10 106,678,647 (GRCm39) splice site probably benign
R0323:Ppfia2 UTSW 10 106,732,281 (GRCm39) missense possibly damaging 0.84
R0391:Ppfia2 UTSW 10 106,666,575 (GRCm39) splice site probably benign
R0667:Ppfia2 UTSW 10 106,749,555 (GRCm39) missense probably damaging 0.97
R0782:Ppfia2 UTSW 10 106,763,592 (GRCm39) missense probably benign 0.32
R0905:Ppfia2 UTSW 10 106,655,372 (GRCm39) missense probably benign 0.43
R1401:Ppfia2 UTSW 10 106,666,518 (GRCm39) missense possibly damaging 0.94
R1672:Ppfia2 UTSW 10 106,666,429 (GRCm39) missense possibly damaging 0.53
R1723:Ppfia2 UTSW 10 106,751,533 (GRCm39) splice site probably null
R1780:Ppfia2 UTSW 10 106,732,368 (GRCm39) missense possibly damaging 0.76
R1847:Ppfia2 UTSW 10 106,763,571 (GRCm39) missense probably benign 0.16
R2015:Ppfia2 UTSW 10 106,310,538 (GRCm39) missense probably benign 0.01
R2051:Ppfia2 UTSW 10 106,673,160 (GRCm39) missense probably damaging 0.98
R2061:Ppfia2 UTSW 10 106,673,190 (GRCm39) missense possibly damaging 0.94
R2115:Ppfia2 UTSW 10 106,597,972 (GRCm39) missense probably damaging 1.00
R2310:Ppfia2 UTSW 10 106,690,841 (GRCm39) missense probably damaging 0.99
R2394:Ppfia2 UTSW 10 106,655,351 (GRCm39) missense probably damaging 0.99
R2656:Ppfia2 UTSW 10 106,701,268 (GRCm39) splice site probably null
R3113:Ppfia2 UTSW 10 106,742,256 (GRCm39) nonsense probably null
R3968:Ppfia2 UTSW 10 106,742,382 (GRCm39) missense probably damaging 0.99
R3977:Ppfia2 UTSW 10 106,666,490 (GRCm39) missense possibly damaging 0.69
R3978:Ppfia2 UTSW 10 106,666,490 (GRCm39) missense possibly damaging 0.69
R3979:Ppfia2 UTSW 10 106,666,490 (GRCm39) missense possibly damaging 0.69
R4567:Ppfia2 UTSW 10 106,701,267 (GRCm39) splice site probably null
R4632:Ppfia2 UTSW 10 106,671,905 (GRCm39) splice site probably null
R4718:Ppfia2 UTSW 10 106,694,146 (GRCm39) missense probably damaging 1.00
R4758:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4770:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4810:Ppfia2 UTSW 10 106,751,551 (GRCm39) missense probably benign 0.01
R4841:Ppfia2 UTSW 10 106,690,818 (GRCm39) missense probably benign 0.04
R4842:Ppfia2 UTSW 10 106,690,818 (GRCm39) missense probably benign 0.04
R4914:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4916:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4917:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R5014:Ppfia2 UTSW 10 106,701,224 (GRCm39) nonsense probably null
R5029:Ppfia2 UTSW 10 106,693,304 (GRCm39) missense probably benign 0.04
R5127:Ppfia2 UTSW 10 106,671,621 (GRCm39) missense probably damaging 0.99
R5357:Ppfia2 UTSW 10 106,740,708 (GRCm39) critical splice donor site probably null
R5420:Ppfia2 UTSW 10 106,671,562 (GRCm39) missense possibly damaging 0.88
R6030:Ppfia2 UTSW 10 106,742,338 (GRCm39) missense probably damaging 1.00
R6030:Ppfia2 UTSW 10 106,742,338 (GRCm39) missense probably damaging 1.00
R6135:Ppfia2 UTSW 10 106,693,430 (GRCm39) missense probably damaging 1.00
R6237:Ppfia2 UTSW 10 106,749,455 (GRCm39) missense probably damaging 1.00
R6433:Ppfia2 UTSW 10 106,749,559 (GRCm39) missense possibly damaging 0.94
R6542:Ppfia2 UTSW 10 106,671,586 (GRCm39) missense probably damaging 0.99
R6674:Ppfia2 UTSW 10 106,763,633 (GRCm39) missense probably benign 0.23
R6746:Ppfia2 UTSW 10 106,742,319 (GRCm39) nonsense probably null
R6992:Ppfia2 UTSW 10 106,310,715 (GRCm39) missense possibly damaging 0.88
R7060:Ppfia2 UTSW 10 106,597,970 (GRCm39) missense probably damaging 1.00
R7346:Ppfia2 UTSW 10 106,693,356 (GRCm39) missense possibly damaging 0.79
R7453:Ppfia2 UTSW 10 106,763,691 (GRCm39) missense possibly damaging 0.82
R7555:Ppfia2 UTSW 10 106,763,687 (GRCm39) missense probably benign 0.00
R7622:Ppfia2 UTSW 10 106,666,520 (GRCm39) missense possibly damaging 0.86
R7637:Ppfia2 UTSW 10 106,701,264 (GRCm39) critical splice donor site probably null
R7866:Ppfia2 UTSW 10 106,655,390 (GRCm39) missense probably damaging 0.97
R7897:Ppfia2 UTSW 10 106,655,399 (GRCm39) missense probably damaging 0.99
R7937:Ppfia2 UTSW 10 106,699,233 (GRCm39) missense probably benign 0.30
R7938:Ppfia2 UTSW 10 106,310,648 (GRCm39) missense probably damaging 0.97
R8218:Ppfia2 UTSW 10 106,699,236 (GRCm39) missense probably benign 0.07
R8431:Ppfia2 UTSW 10 106,671,952 (GRCm39) nonsense probably null
R8806:Ppfia2 UTSW 10 106,694,114 (GRCm39) missense probably damaging 1.00
R8984:Ppfia2 UTSW 10 106,694,439 (GRCm39) intron probably benign
R9008:Ppfia2 UTSW 10 106,655,220 (GRCm39) missense probably benign 0.00
R9014:Ppfia2 UTSW 10 106,763,666 (GRCm39) missense probably benign 0.05
R9182:Ppfia2 UTSW 10 106,763,640 (GRCm39) missense probably benign 0.39
R9201:Ppfia2 UTSW 10 106,678,640 (GRCm39) critical splice donor site probably null
R9249:Ppfia2 UTSW 10 106,749,429 (GRCm39) missense probably damaging 1.00
R9620:Ppfia2 UTSW 10 106,749,519 (GRCm39) missense
R9710:Ppfia2 UTSW 10 106,664,885 (GRCm39) missense probably benign 0.00
X0021:Ppfia2 UTSW 10 106,310,538 (GRCm39) missense probably benign 0.06
X0022:Ppfia2 UTSW 10 106,729,295 (GRCm39) missense probably damaging 1.00
Z1176:Ppfia2 UTSW 10 106,310,506 (GRCm39) missense probably damaging 0.97
Z1177:Ppfia2 UTSW 10 106,742,416 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGAAGGAATTCAGCCATTCTG -3'
(R):5'- GGGTACACTTCTCTTGCACC -3'

Sequencing Primer
(F):5'- GGAATTCAGCCATTCTGTGCCC -3'
(R):5'- GCATAATTTCTTCTGTTCCAACAC -3'
Posted On 2018-05-21