Incidental Mutation 'R8984:Ppfia2'
ID 716031
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 068817-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8984 (G1)
Quality Score 126.008
Status Validated
Chromosome 10
Chromosomal Location 106305129-106769329 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 106694439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T A 9: 122,180,880 (GRCm39) V10E probably benign Het
Adss2 A T 1: 177,601,280 (GRCm39) probably benign Het
AI467606 A T 7: 126,691,673 (GRCm39) I83F probably damaging Het
Atn1 A T 6: 124,723,923 (GRCm39) W437R unknown Het
Atxn7l2 T C 3: 108,116,290 (GRCm39) probably benign Het
AU040320 T C 4: 126,734,936 (GRCm39) F750S possibly damaging Het
B3gnt6 A G 7: 97,842,821 (GRCm39) S380P probably benign Het
Bod1l T C 5: 41,946,215 (GRCm39) Q3020R probably damaging Het
Borcs6 A T 11: 68,950,828 (GRCm39) I69F probably benign Het
Brd7 T A 8: 89,081,340 (GRCm39) M170L probably benign Het
Ccdc191 T A 16: 43,710,581 (GRCm39) probably benign Het
Cit C T 5: 116,064,534 (GRCm39) T472I possibly damaging Het
Ddx25 G T 9: 35,468,685 (GRCm39) D57E probably benign Het
Dnah7a A T 1: 53,674,436 (GRCm39) L447* probably null Het
Epb41l3 A G 17: 69,554,641 (GRCm39) D247G probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etaa1 A T 11: 17,890,254 (GRCm39) V869E probably damaging Het
Exoc8 T A 8: 125,622,769 (GRCm39) I533F probably benign Het
Fam117a A G 11: 95,254,823 (GRCm39) probably null Het
Fam222a C T 5: 114,749,092 (GRCm39) T96I possibly damaging Het
Farsa C T 8: 85,594,228 (GRCm39) T326I probably damaging Het
Fkbp1b T A 12: 4,891,401 (GRCm39) D12V probably damaging Het
Garin3 C A 11: 46,295,695 (GRCm39) Y22* probably null Het
Gc C T 5: 89,589,421 (GRCm39) probably null Het
Git2 T C 5: 114,868,256 (GRCm39) E705G probably damaging Het
Gm10318 G A 10: 77,689,078 (GRCm39) C128Y unknown Het
H3c3 C A 13: 23,929,393 (GRCm39) A30S probably benign Het
Hcar2 G A 5: 124,002,571 (GRCm39) R311* probably null Het
Hira A G 16: 18,746,261 (GRCm39) Q468R possibly damaging Het
Hspa1l T C 17: 35,197,092 (GRCm39) V377A probably damaging Het
Igkv2-137 T A 6: 67,532,659 (GRCm39) W14R probably damaging Het
Itga3 A T 11: 94,953,391 (GRCm39) L317Q probably damaging Het
Jade2 A C 11: 51,715,906 (GRCm39) L433W probably damaging Het
Kif21a T C 15: 90,840,559 (GRCm39) T1186A probably benign Het
Krtap28-10 C A 1: 83,019,894 (GRCm39) C82F unknown Het
Ksr1 G A 11: 78,931,709 (GRCm39) T333M probably damaging Het
Msi1 T C 5: 115,573,598 (GRCm39) F132S probably damaging Het
Myo7b C A 18: 32,099,402 (GRCm39) K1673N probably null Het
Myom3 T A 4: 135,515,255 (GRCm39) N716K Het
Ndst4 G A 3: 125,515,810 (GRCm39) G312R probably damaging Het
Ndufaf2 A G 13: 108,189,316 (GRCm39) V144A probably benign Het
Omd T C 13: 49,743,576 (GRCm39) S209P possibly damaging Het
Or2n1c A G 17: 38,519,304 (GRCm39) H56R probably damaging Het
Or2t47 G C 11: 58,442,209 (GRCm39) N285K probably damaging Het
Or51b17 G A 7: 103,542,816 (GRCm39) T42I probably benign Het
Or51e1 T A 7: 102,359,219 (GRCm39) I251N possibly damaging Het
Or52a24 T C 7: 103,381,220 (GRCm39) I29T probably damaging Het
Or52e3 T C 7: 102,869,393 (GRCm39) L156P possibly damaging Het
Patl1 T A 19: 11,898,760 (GRCm39) Y152N probably damaging Het
Plaur T A 7: 24,164,577 (GRCm39) M27K probably benign Het
Ppfia3 A G 7: 44,990,100 (GRCm39) V1142A probably damaging Het
Psg28 T A 7: 18,156,981 (GRCm39) N418I probably damaging Het
Ptprd A T 4: 75,863,251 (GRCm39) F1237I probably damaging Het
Ptprj G A 2: 90,270,987 (GRCm39) P1247L probably damaging Het
Rbms3 A T 9: 116,524,886 (GRCm39) probably null Het
Rgs18 A G 1: 144,629,566 (GRCm39) V231A probably benign Het
Rnf112 T C 11: 61,343,277 (GRCm39) R156G possibly damaging Het
Rsad1 A C 11: 94,439,010 (GRCm39) V150G probably damaging Het
Rxrg G A 1: 167,462,005 (GRCm39) V350I possibly damaging Het
Sash1 A G 10: 8,626,808 (GRCm39) I192T possibly damaging Het
Slc25a36 G A 9: 96,961,259 (GRCm39) T259I probably benign Het
Smarcd3 T A 5: 24,798,986 (GRCm39) E324V probably null Het
St3gal4 A G 9: 34,966,944 (GRCm39) V2A possibly damaging Het
Stk17b A C 1: 53,796,784 (GRCm39) S328A probably benign Het
Tbrg1 A G 9: 37,563,949 (GRCm39) Y229H probably damaging Het
Tdg A G 10: 82,484,514 (GRCm39) N409S probably benign Het
Terb1 T C 8: 105,212,036 (GRCm39) E315G possibly damaging Het
Tmem131 A G 1: 36,867,228 (GRCm39) F402L probably benign Het
Trav4-2 T C 14: 53,656,190 (GRCm39) I64T probably benign Het
Trav4-4-dv10 A G 14: 53,921,574 (GRCm39) T91A probably benign Het
Xdh C T 17: 74,228,346 (GRCm39) G352R probably damaging Het
Zfp551 C A 7: 12,156,559 (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
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
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
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'- GTGGACACTCAACGCCAAAG -3'
(R):5'- TTCAACTGATAAAAGATACCCATGG -3'

Sequencing Primer
(F):5'- ACCCTGGTATGATTATGCGTCCAG -3'
(R):5'- CAATGGGTACTGTTCCCT -3'
Posted On 2022-06-27