Incidental Mutation 'R4810:Ppfia2'
ID 371013
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 042429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4810 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 106305129-106769329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106751551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1166 (I1166V)
Ref Sequence ENSEMBL: ENSMUSP00000151545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029404] [ENSMUST00000217854]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029404
AA Change: I1165V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: I1165V

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 benign
Transcript: ENSMUST00000217854
AA Change: I1166V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219024
Meta Mutation Damage Score 0.0836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 99% (93/94)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,216 (GRCm39) V1189A possibly damaging Het
A3galt2 T C 4: 128,649,356 (GRCm39) probably null Het
Abca12 T C 1: 71,342,771 (GRCm39) D903G probably benign Het
Abcc12 T C 8: 87,287,471 (GRCm39) M125V probably damaging Het
Adad1 A G 3: 37,146,183 (GRCm39) N517S probably damaging Het
Ankrd44 A G 1: 54,774,302 (GRCm39) probably benign Het
Armc7 A G 11: 115,379,787 (GRCm39) I162V probably benign Het
Art3 T A 5: 92,562,108 (GRCm39) V343D possibly damaging Het
Bcl9l A G 9: 44,419,650 (GRCm39) T1106A probably damaging Het
Ccdc141 T C 2: 76,876,099 (GRCm39) N644D possibly damaging Het
Ccdc154 T C 17: 25,382,472 (GRCm39) L98S probably damaging Het
Ccne1 A G 7: 37,799,018 (GRCm39) W237R probably damaging Het
Cd33 T C 7: 43,182,134 (GRCm39) I104V probably damaging Het
Ceacam1 A T 7: 25,173,945 (GRCm39) *237K probably null Het
Ces1e T A 8: 93,935,259 (GRCm39) I398F probably benign Het
Cfap44 T C 16: 44,271,898 (GRCm39) I1217T probably damaging Het
Clns1a T C 7: 97,363,224 (GRCm39) S199P probably benign Het
Cntn4 C A 6: 106,632,572 (GRCm39) T532K probably benign Het
Col11a2 C T 17: 34,276,086 (GRCm39) S470L probably damaging Het
Cst5 A T 2: 149,247,463 (GRCm39) R60* probably null Het
Cxcr6 A T 9: 123,639,227 (GRCm39) D83V probably damaging Het
Dis3l2 T C 1: 86,975,296 (GRCm39) V774A probably damaging Het
Dusp15 A G 2: 152,787,374 (GRCm39) L79P probably damaging Het
Elapor1 T A 3: 108,377,327 (GRCm39) probably benign Het
Eml6 A T 11: 29,705,011 (GRCm39) V1511E possibly damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Fam227b A G 2: 125,829,859 (GRCm39) F450L probably benign Het
Fam91a1 T A 15: 58,306,589 (GRCm39) L452Q probably damaging Het
Fbxo44 T C 4: 148,240,903 (GRCm39) Y199C probably damaging Het
Fgd3 A G 13: 49,443,126 (GRCm39) S149P probably benign Het
Gabra4 T C 5: 71,781,325 (GRCm39) E362G probably damaging Het
Galnt14 T C 17: 73,819,116 (GRCm39) I325V probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm10088 G T 16: 18,847,081 (GRCm39) noncoding transcript Het
Grik5 T C 7: 24,714,922 (GRCm39) N691D probably damaging Het
Grm1 C G 10: 10,658,438 (GRCm39) D351H probably damaging Het
Grm8 T C 6: 27,761,295 (GRCm39) S310G possibly damaging Het
Gtf2h2 A G 13: 100,617,510 (GRCm39) probably null Het
Hhex G T 19: 37,428,103 (GRCm39) L49F probably damaging Het
Hkdc1 T A 10: 62,247,304 (GRCm39) R159S probably benign Het
Iqcm A G 8: 76,615,281 (GRCm39) Y454C probably damaging Het
Kcnh8 G A 17: 53,212,248 (GRCm39) probably null Het
Larp4b A G 13: 9,208,627 (GRCm39) T427A probably benign Het
Mtmr3 A T 11: 4,448,046 (GRCm39) N297K probably benign Het
Nek8 G A 11: 78,058,629 (GRCm39) T557I probably benign Het
Nlrp9c A C 7: 26,077,602 (GRCm39) probably null Het
Nmrk1 T A 19: 18,617,273 (GRCm39) D48E probably benign Het
Npepps G A 11: 97,131,759 (GRCm39) T365I probably damaging Het
Obscn G A 11: 58,922,417 (GRCm39) T5921M possibly damaging Het
Or8b44 C A 9: 38,410,620 (GRCm39) Y218* probably null Het
Or8c9 A G 9: 38,241,690 (GRCm39) E269G probably benign Het
Otud7b C T 3: 96,043,918 (GRCm39) A23V probably damaging Het
Pcdhga9 G A 18: 37,871,601 (GRCm39) A477T possibly damaging Het
Plekha7 A T 7: 115,744,173 (GRCm39) I663N probably damaging Het
Plscr1l1 A G 9: 92,236,683 (GRCm39) D190G probably damaging Het
Polk A T 13: 96,620,003 (GRCm39) S732R possibly damaging Het
Ppp2r5a C T 1: 191,088,589 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,897,011 (GRCm39) K401E probably damaging Het
Ptpn23 A G 9: 110,218,204 (GRCm39) Y611H possibly damaging Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,507,406 (GRCm39) C443S probably damaging Het
Ralgapa1 A G 12: 55,841,778 (GRCm39) probably null Het
Rev3l T C 10: 39,699,721 (GRCm39) L1406P probably benign Het
Rnaset2b T A 17: 7,259,167 (GRCm39) D48E probably benign Het
Rnf13 G T 3: 57,703,693 (GRCm39) M105I probably damaging Het
Rnf150 T C 8: 83,716,991 (GRCm39) V166A possibly damaging Het
Rps6kc1 C A 1: 190,541,160 (GRCm39) R381L probably damaging Het
Rspo2 C T 15: 43,033,216 (GRCm39) R2H probably benign Het
Septin8 A G 11: 53,425,416 (GRCm39) D103G probably damaging Het
Sirt4 A G 5: 115,618,508 (GRCm39) W189R probably damaging Het
Slco6d1 T C 1: 98,350,979 (GRCm39) V110A possibly damaging Het
Sncaip C A 18: 53,040,271 (GRCm39) Q822K possibly damaging Het
Spg11 A C 2: 121,890,277 (GRCm39) F2070V probably damaging Het
Sptb A T 12: 76,669,971 (GRCm39) Y452* probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tead1 C A 7: 112,441,073 (GRCm39) probably null Het
Tmem156 G T 5: 65,248,790 (GRCm39) probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem260 A G 14: 48,709,930 (GRCm39) E51G probably damaging Het
Trim36 G T 18: 46,305,536 (GRCm39) N470K probably benign Het
Trps1 T A 15: 50,685,692 (GRCm39) T158S probably benign Het
Ube2c A G 2: 164,614,482 (GRCm39) *180W probably null Het
Ube2i T C 17: 25,484,121 (GRCm39) D45G probably benign Het
Uggt2 A C 14: 119,250,933 (GRCm39) L1188R probably damaging Het
Uroc1 T C 6: 90,340,135 (GRCm39) I680T probably damaging Het
Vmn2r2 T A 3: 64,044,883 (GRCm39) M88L probably damaging Het
Zfp248 G A 6: 118,406,807 (GRCm39) R261C possibly damaging Het
Zfp418 G T 7: 7,185,846 (GRCm39) R603L possibly damaging Het
Zmpste24 T A 4: 120,918,251 (GRCm39) Y457F 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
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
R6457:Ppfia2 UTSW 10 106,729,361 (GRCm39) missense probably damaging 1.00
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'- GCTTCTTGACTATAACATACAAGGG -3'
(R):5'- TTATCCCAACACTATGTGGTACTG -3'

Sequencing Primer
(F):5'- CTCTATAGTCTACAGAACACAACAAC -3'
(R):5'- GAACTTACTTCATCCAGTCTC -3'
Posted On 2016-02-04