Incidental Mutation 'R2051:Ppfia2'
ID 226445
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 040058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2051 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 106305129-106769329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106673160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 501 (S501T)
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: S501T

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: S501T

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: S501T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,562,447 (GRCm39) T98M probably damaging Het
4932414N04Rik G T 2: 68,541,392 (GRCm39) K10N possibly damaging Het
Aadat T A 8: 60,960,173 (GRCm39) S40T probably benign Het
Abca13 A G 11: 9,278,098 (GRCm39) I3093V probably benign Het
Acacb A T 5: 114,383,951 (GRCm39) Q2160L probably damaging Het
Acp6 G T 3: 97,075,333 (GRCm39) S189I probably benign Het
Actr5 A T 2: 158,474,213 (GRCm39) M339L probably benign Het
Adcy1 A T 11: 7,111,885 (GRCm39) K917* probably null Het
Adgrg5 C T 8: 95,668,695 (GRCm39) R504C probably benign Het
Ago1 T C 4: 126,354,246 (GRCm39) H188R probably benign Het
Akap9 T A 5: 4,025,685 (GRCm39) C23* probably null Het
Ank3 T C 10: 69,733,920 (GRCm39) I728T probably damaging Het
Ankrd50 A G 3: 38,508,642 (GRCm39) S1242P probably benign Het
Arhgap29 G A 3: 121,775,509 (GRCm39) R84H probably benign Het
Arhgef10 A G 8: 14,995,320 (GRCm39) D7G probably null Het
Arid4b A G 13: 14,362,230 (GRCm39) E898G probably damaging Het
Atrnl1 A G 19: 57,680,281 (GRCm39) N727S probably benign Het
Baalc G T 15: 38,796,629 (GRCm39) probably benign Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Chpf2 G T 5: 24,796,274 (GRCm39) V407L probably benign Het
Chrnb3 C A 8: 27,876,839 (GRCm39) N84K probably damaging Het
Cnot1 A G 8: 96,451,221 (GRCm39) F2171L possibly damaging Het
Csmd3 C T 15: 48,485,389 (GRCm39) probably null Het
Cux1 T A 5: 136,361,512 (GRCm39) Q138L probably damaging Het
Cyp2c65 A G 19: 39,070,675 (GRCm39) N286S probably benign Het
Dclre1b T C 3: 103,716,356 (GRCm39) S17G possibly damaging Het
Dlgap5 A G 14: 47,648,941 (GRCm39) S221P probably benign Het
Dnah1 T G 14: 31,001,080 (GRCm39) T2422P probably damaging Het
Enpp1 A G 10: 24,587,702 (GRCm39) probably null Het
Erbb2 T C 11: 98,310,998 (GRCm39) C53R probably damaging Het
Exoc8 A G 8: 125,622,219 (GRCm39) V716A probably benign Het
Fam193a T A 5: 34,619,494 (GRCm39) D766E probably benign Het
Fbxo43 C A 15: 36,162,278 (GRCm39) G310W probably damaging Het
Fcgbp C T 7: 27,819,785 (GRCm39) T2504I probably damaging Het
Fnbp4 C T 2: 90,587,876 (GRCm39) P418L probably benign Het
Gjd2 T C 2: 113,841,539 (GRCm39) T313A probably damaging Het
Gm12695 T A 4: 96,658,008 (GRCm39) R54W probably damaging Het
Gm128 T C 3: 95,148,051 (GRCm39) D81G possibly damaging Het
Gm21834 A G 17: 58,048,763 (GRCm39) V151A possibly damaging Het
Grhl1 T A 12: 24,636,151 (GRCm39) probably null Het
Hcn1 C T 13: 118,112,619 (GRCm39) T861I probably damaging Het
Herc6 C A 6: 57,602,961 (GRCm39) Q547K probably benign Het
Iqgap3 T C 3: 88,027,474 (GRCm39) L699P probably damaging Het
Kank4 T C 4: 98,668,339 (GRCm39) D36G probably damaging Het
Kcnk5 A T 14: 20,192,277 (GRCm39) S295T probably damaging Het
Krt18 T C 15: 101,937,935 (GRCm39) V144A probably benign Het
Krtap9-5 A G 11: 99,840,030 (GRCm39) I244V unknown Het
Leng1 T G 7: 3,668,400 (GRCm39) N16T probably damaging Het
Lss A G 10: 76,367,712 (GRCm39) K15E possibly damaging Het
Mastl G T 2: 23,022,836 (GRCm39) A629E possibly damaging Het
Mavs G C 2: 131,082,370 (GRCm39) A85P possibly damaging Het
Nav3 T C 10: 109,660,536 (GRCm39) D678G probably damaging Het
Nsd3 T G 8: 26,181,116 (GRCm39) S906A probably damaging Het
Nsfl1c A G 2: 151,345,002 (GRCm39) N118S probably damaging Het
Nup205 T A 6: 35,207,451 (GRCm39) M1501K probably benign Het
Or4p7 C T 2: 88,221,882 (GRCm39) T97M possibly damaging Het
Or6n1 T A 1: 173,916,785 (GRCm39) Y60N possibly damaging Het
Pax8 A G 2: 24,326,520 (GRCm39) S281P probably benign Het
Pds5b T G 5: 150,671,655 (GRCm39) I433R probably damaging Het
Peg3 T C 7: 6,715,720 (GRCm39) N117D probably damaging Het
Pfkm A T 15: 98,029,573 (GRCm39) D728V probably benign Het
Phkb T C 8: 86,776,450 (GRCm39) probably null Het
Pkp4 T C 2: 59,165,248 (GRCm39) V704A probably benign Het
Ptpru T C 4: 131,546,398 (GRCm39) E284G possibly damaging Het
Ror1 C T 4: 100,265,065 (GRCm39) R180* probably null Het
Ryr3 T A 2: 112,586,986 (GRCm39) Y2666F probably damaging Het
Sec23a C A 12: 59,037,754 (GRCm39) probably null Het
Sertad3 C T 7: 27,175,694 (GRCm39) Q43* probably null Het
Setd2 C T 9: 110,379,958 (GRCm39) H1258Y probably benign Het
Sharpin A G 15: 76,232,407 (GRCm39) S177P probably benign Het
Skap1 T C 11: 96,432,289 (GRCm39) F86S possibly damaging Het
Slc8a2 T C 7: 15,874,940 (GRCm39) I396T probably damaging Het
Slc9a2 T C 1: 40,765,597 (GRCm39) F329S probably damaging Het
Slx4ip C T 2: 136,908,125 (GRCm39) L161F possibly damaging Het
Sox4 A G 13: 29,136,764 (GRCm39) S81P probably damaging Het
Ssc4d G T 5: 135,999,118 (GRCm39) S28R probably benign Het
St8sia2 C T 7: 73,592,950 (GRCm39) G369S possibly damaging Het
Swt1 T C 1: 151,248,081 (GRCm39) Y836C probably damaging Het
Taar7d A G 10: 23,903,904 (GRCm39) D262G probably benign Het
Taar8b T A 10: 23,967,212 (GRCm39) L327F probably benign Het
Tars1 A T 15: 11,393,280 (GRCm39) L138* probably null Het
Tbcd A T 11: 121,344,496 (GRCm39) D75V probably damaging Het
Tesc A G 5: 118,184,394 (GRCm39) I25V probably damaging Het
Tmem132e G T 11: 82,331,264 (GRCm39) S407I probably damaging Het
Tmem50b C A 16: 91,377,180 (GRCm39) A95S possibly damaging Het
Tnr T C 1: 159,719,603 (GRCm39) I960T probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn1 G C 5: 120,681,453 (GRCm39) P532A probably damaging Het
Tpsb2 T C 17: 25,585,539 (GRCm39) probably benign Het
Triobp C A 15: 78,888,740 (GRCm39) H1948Q probably damaging Het
Tshb T C 3: 102,684,857 (GRCm39) I116V probably benign Het
Ttc13 A T 8: 125,398,950 (GRCm39) probably null Het
Usp34 A T 11: 23,414,468 (GRCm39) T2804S probably damaging Het
Vmn2r18 A T 5: 151,486,016 (GRCm39) C493S possibly damaging Het
Vmn2r2 T C 3: 64,024,766 (GRCm39) K605R possibly damaging Het
Vmn2r37 T C 7: 9,220,792 (GRCm39) Y357C probably damaging Het
Zc3h6 T G 2: 128,857,538 (GRCm39) S686A possibly damaging Het
Zfp608 G A 18: 55,121,386 (GRCm39) P67L probably benign Het
Zyg11a T C 4: 108,049,244 (GRCm39) probably benign 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
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
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'- GTCTGTCTATTCAAGTGTAGCAAAG -3'
(R):5'- CAGAGTACTGGTTTGCAATGTG -3'

Sequencing Primer
(F):5'- CAAGTGTAGCAAAGTAGCATTTCTTG -3'
(R):5'- ACTGGTTTGCAATGTGTTCAATGAC -3'
Posted On 2014-09-17