Incidental Mutation 'R8218:Ppfia2'
ID 636493
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 067637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8218 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 106305129-106769329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106699236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 795 (D795G)
Ref Sequence ENSEMBL: ENSMUSP00000029404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029404]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029404
AA Change: D795G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: D795G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 99% (72/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik G A 15: 84,839,668 (GRCm39) H191Y probably damaging Het
5730480H06Rik T A 5: 48,536,769 (GRCm39) L155* probably null Het
Ackr4 T C 9: 103,976,410 (GRCm39) N179S probably benign Het
Acp5 T C 9: 22,040,902 (GRCm39) Y107C probably damaging Het
Aff4 A T 11: 53,289,084 (GRCm39) H411L probably damaging Het
Atp5pb A G 3: 105,866,502 (GRCm39) M1T probably null Het
Atp8b5 G A 4: 43,372,728 (GRCm39) probably null Het
C1qtnf2 A G 11: 43,381,775 (GRCm39) T166A possibly damaging Het
Dctn2 A G 10: 127,112,398 (GRCm39) D170G probably damaging Het
Dennd3 T A 15: 73,384,622 (GRCm39) S10T probably benign Het
Ehbp1 T C 11: 22,046,096 (GRCm39) Y551C possibly damaging Het
Eif4g2 A T 7: 110,673,639 (GRCm39) D743E possibly damaging Het
Esr1 G A 10: 4,696,808 (GRCm39) probably null Het
Exo1 A T 1: 175,728,480 (GRCm39) I515L probably benign Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Garin1a T C 6: 29,286,072 (GRCm39) I177T probably damaging Het
Gcn1 G A 5: 115,719,588 (GRCm39) S361N probably benign Het
Gm6337 C T 14: 6,050,613 (GRCm38) probably null Het
Grk4 T A 5: 34,826,540 (GRCm39) S47T probably benign Het
Gstp2 C A 19: 4,091,668 (GRCm39) M20I probably benign Het
Harbi1 T C 2: 91,543,237 (GRCm39) F233L probably benign Het
Iqch C T 9: 63,389,915 (GRCm39) V755I possibly damaging Het
Iws1 T C 18: 32,226,688 (GRCm39) F756L probably benign Het
Kcnh6 T G 11: 105,908,200 (GRCm39) V272G possibly damaging Het
Kcnj10 C T 1: 172,196,539 (GRCm39) R18C probably damaging Het
Kmt2c A C 5: 25,488,104 (GRCm39) S4670A probably damaging Het
Krt80 T G 15: 101,267,884 (GRCm39) M18L probably benign Het
Lbx1 A G 19: 45,223,359 (GRCm39) V103A probably benign Het
Marchf8 A T 6: 116,315,059 (GRCm39) probably benign Het
Muc16 T A 9: 18,548,315 (GRCm39) T5993S possibly damaging Het
Or10ag57 C T 2: 87,218,922 (GRCm39) T291I probably damaging Het
Or1j17 A G 2: 36,578,685 (GRCm39) T224A probably benign Het
Or1o4 A G 17: 37,590,711 (GRCm39) V200A probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pbxip1 A G 3: 89,352,902 (GRCm39) I183V probably benign Het
Pcdh20 T A 14: 88,706,047 (GRCm39) I418F probably damaging Het
Pclo T C 5: 14,725,677 (GRCm39) F1512L unknown Het
Phf2 G T 13: 48,958,104 (GRCm39) T970K unknown Het
Pidd1 A G 7: 141,019,566 (GRCm39) V698A probably damaging Het
Pik3ca T A 3: 32,491,996 (GRCm39) V198D possibly damaging Het
Pip5k1c T A 10: 81,142,250 (GRCm39) D153E probably damaging Het
Pramel12 A T 4: 143,145,706 (GRCm39) I392F probably benign Het
Prkar2a C A 9: 108,596,448 (GRCm39) A131D possibly damaging Het
Pter A G 2: 12,985,366 (GRCm39) D232G probably damaging Het
Qser1 C T 2: 104,593,268 (GRCm39) R1583Q probably damaging Het
Rasal2 A C 1: 156,984,951 (GRCm39) V932G probably damaging Het
Rasgrf2 G A 13: 92,130,796 (GRCm39) A154V Het
Rbm4 A G 19: 4,837,444 (GRCm39) Y347H probably damaging Het
Rfxank C A 8: 70,584,085 (GRCm39) probably null Het
Robo1 C G 16: 72,786,678 (GRCm39) R897G possibly damaging Het
Sash1 G A 10: 8,627,000 (GRCm39) T364I probably damaging Het
Skint6 T A 4: 112,696,471 (GRCm39) probably null Het
Slc22a4 T A 11: 53,877,407 (GRCm39) M495L probably benign Het
Slc39a8 G A 3: 135,563,325 (GRCm39) V212I probably benign Het
Slc40a1 A C 1: 45,950,129 (GRCm39) V441G probably benign Het
Slc7a11 A T 3: 50,378,501 (GRCm39) Y246N probably damaging Het
Spata9 T C 13: 76,125,892 (GRCm39) V125A probably benign Het
Svopl T A 6: 37,991,741 (GRCm39) M380L probably benign Het
Sycp2l T C 13: 41,271,544 (GRCm39) Y23H probably damaging Het
Syt11 A T 3: 88,669,427 (GRCm39) V155E probably benign Het
Syt5 T C 7: 4,545,822 (GRCm39) Y147C probably damaging Het
Thg1l T C 11: 45,846,277 (GRCm39) T6A probably benign Het
Tlr2 A G 3: 83,745,546 (GRCm39) L179P probably damaging Het
Tsn A T 1: 118,232,984 (GRCm39) Y107N probably damaging Het
Tspan32 A T 7: 142,564,832 (GRCm39) Y114F probably benign Het
Tube1 A C 10: 39,023,375 (GRCm39) S341R possibly damaging Het
Ubn2 T A 6: 38,466,214 (GRCm39) V516D probably benign Het
Vmn1r21 G T 6: 57,820,910 (GRCm39) T178K noncoding transcript Het
Vmn2r108 A G 17: 20,683,465 (GRCm39) Y580H probably damaging Het
Wdr75 T A 1: 45,857,342 (GRCm39) F546L probably damaging Het
Yy1 A G 12: 108,759,619 (GRCm39) D94G probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zfy2 T C Y: 2,133,421 (GRCm39) T9A unknown 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
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
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'- CTTTGAGGCACTTTCATTTGGAC -3'
(R):5'- AGACAAAAGTGTATTGGCTTGC -3'

Sequencing Primer
(F):5'- GGACTTATAATTAGCTCCCTGAATG -3'
(R):5'- CAGCTAGAGTTCTATGCACTGAG -3'
Posted On 2020-07-13