Incidental Mutation 'R5821:Ppfia3'
ID 449939
Institutional Source Beutler Lab
Gene Symbol Ppfia3
Ensembl Gene ENSMUSG00000003863
Gene Name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3
Synonyms 2410127E16Rik, Liprin-alpha3
MMRRC Submission 043401-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R5821 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44988550-45016443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45003040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 372 (T372I)
Ref Sequence ENSEMBL: ENSMUSP00000147584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000210248] [ENSMUST00000211067]
AlphaFold P60469
Predicted Effect possibly damaging
Transcript: ENSMUST00000003961
AA Change: T523I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: T523I

DomainStartEndE-ValueType
coiled coil region 27 129 N/A INTRINSIC
coiled coil region 167 426 N/A INTRINSIC
coiled coil region 448 500 N/A INTRINSIC
low complexity region 534 550 N/A INTRINSIC
coiled coil region 597 642 N/A INTRINSIC
low complexity region 651 672 N/A INTRINSIC
low complexity region 707 719 N/A INTRINSIC
SAM 835 904 1.46e-10 SMART
SAM 950 1017 8.22e-5 SMART
SAM 1038 1110 3.58e-5 SMART
low complexity region 1156 1169 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107779
AA Change: T523I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103408
Gene: ENSMUSG00000003863
AA Change: T523I

DomainStartEndE-ValueType
coiled coil region 27 129 N/A INTRINSIC
coiled coil region 167 426 N/A INTRINSIC
coiled coil region 448 500 N/A INTRINSIC
low complexity region 534 550 N/A INTRINSIC
coiled coil region 597 642 N/A INTRINSIC
low complexity region 651 672 N/A INTRINSIC
low complexity region 707 719 N/A INTRINSIC
SAM 835 904 1.46e-10 SMART
SAM 950 1017 8.22e-5 SMART
SAM 1038 1110 3.58e-5 SMART
low complexity region 1156 1169 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000137578
AA Change: T372I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118183
Gene: ENSMUSG00000003863
AA Change: T372I

DomainStartEndE-ValueType
coiled coil region 16 275 N/A INTRINSIC
coiled coil region 297 349 N/A INTRINSIC
low complexity region 383 399 N/A INTRINSIC
coiled coil region 446 491 N/A INTRINSIC
low complexity region 500 521 N/A INTRINSIC
low complexity region 556 568 N/A INTRINSIC
SAM 684 753 1.46e-10 SMART
SAM 790 857 8.22e-5 SMART
SAM 878 950 3.58e-5 SMART
low complexity region 996 1009 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210248
AA Change: T372I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210586
Predicted Effect possibly damaging
Transcript: ENSMUST00000211067
AA Change: T523I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.0954 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 100% (55/55)
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. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,686,458 (GRCm39) V278D possibly damaging Het
Acacb A G 5: 114,322,167 (GRCm39) D227G possibly damaging Het
Akap9 A G 5: 4,096,064 (GRCm39) E2313G probably benign Het
Cchcr1 A T 17: 35,839,745 (GRCm39) E564D probably damaging Het
Cers2 G A 3: 95,229,008 (GRCm39) probably benign Het
Cfap161 A G 7: 83,425,188 (GRCm39) I301T probably benign Het
Ciita A T 16: 10,329,669 (GRCm39) E648V possibly damaging Het
Cir1 C T 2: 73,142,804 (GRCm39) C10Y probably damaging Het
Clasp1 T A 1: 118,518,214 (GRCm39) F1087I probably damaging Het
Cped1 C A 6: 22,138,681 (GRCm39) F415L probably benign Het
Dnah7b A G 1: 46,181,292 (GRCm39) T1060A possibly damaging Het
Epha5 G T 5: 84,232,587 (GRCm39) P809H probably damaging Het
Fuca1 T A 4: 135,650,273 (GRCm39) probably null Het
Galnt2l A T 8: 123,627,372 (GRCm39) *98R probably null Het
Gm26796 G A 12: 80,805,564 (GRCm39) R237C unknown Het
Idua A G 5: 108,827,600 (GRCm39) Y138C probably benign Het
Ighd A T 12: 113,373,253 (GRCm39) L240H probably benign Het
Ing2 C G 8: 48,121,861 (GRCm39) C229S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kctd8 A T 5: 69,267,828 (GRCm39) N427K probably benign Het
Kif16b T C 2: 142,544,586 (GRCm39) E1147G probably damaging Het
Kif18a G A 2: 109,120,190 (GRCm39) probably benign Het
Krt82 T A 15: 101,456,820 (GRCm39) R187* probably null Het
Lrrk2 T C 15: 91,593,593 (GRCm39) probably null Het
M1ap T C 6: 82,945,083 (GRCm39) Y126H probably benign Het
Mmel1 A G 4: 154,970,044 (GRCm39) N226D possibly damaging Het
Mtmr11 A G 3: 96,075,185 (GRCm39) D353G possibly damaging Het
Nfkbia A T 12: 55,538,005 (GRCm39) H149Q probably damaging Het
Nr5a1 A T 2: 38,598,511 (GRCm39) F95L probably damaging Het
Nutm2 A G 13: 50,623,891 (GRCm39) Y196C probably benign Het
Oxtr A G 6: 112,466,457 (GRCm39) I101T probably damaging Het
Pcsk2 T A 2: 143,591,035 (GRCm39) probably null Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Pign A G 1: 105,516,788 (GRCm39) W585R possibly damaging Het
Pomgnt1 A G 4: 116,012,933 (GRCm39) S407G probably benign Het
Prrc2b A T 2: 32,102,144 (GRCm39) E739V probably damaging Het
Ro60 A G 1: 143,642,503 (GRCm39) V209A probably benign Het
Scn7a T C 2: 66,574,047 (GRCm39) E192G probably damaging Het
Slmap T C 14: 26,183,435 (GRCm39) D316G probably damaging Het
Smim8 GGTTTAATGAAGAG GG 4: 34,771,259 (GRCm39) probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tgm2 T A 2: 157,984,974 (GRCm39) Y44F possibly damaging Het
Tmc8 C A 11: 117,683,455 (GRCm39) S670* probably null Het
Tmem145 A G 7: 25,014,946 (GRCm39) D523G probably benign Het
Vmn2r115 G A 17: 23,566,937 (GRCm39) G483E probably damaging Het
Other mutations in Ppfia3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Ppfia3 APN 7 45,009,481 (GRCm39) splice site probably null
IGL02086:Ppfia3 APN 7 44,989,996 (GRCm39) unclassified probably benign
IGL02160:Ppfia3 APN 7 45,009,475 (GRCm39) splice site probably benign
IGL02373:Ppfia3 APN 7 45,008,273 (GRCm39) missense probably damaging 0.98
IGL02417:Ppfia3 APN 7 44,991,141 (GRCm39) missense probably damaging 0.98
IGL02501:Ppfia3 APN 7 45,004,362 (GRCm39) splice site probably benign
IGL02638:Ppfia3 APN 7 45,006,092 (GRCm39) missense probably damaging 1.00
IGL03084:Ppfia3 APN 7 44,989,651 (GRCm39) missense probably benign 0.00
R0207:Ppfia3 UTSW 7 44,997,958 (GRCm39) missense probably damaging 1.00
R0962:Ppfia3 UTSW 7 44,997,146 (GRCm39) splice site probably benign
R1086:Ppfia3 UTSW 7 45,011,182 (GRCm39) missense probably damaging 1.00
R1146:Ppfia3 UTSW 7 45,001,639 (GRCm39) missense probably benign 0.19
R1146:Ppfia3 UTSW 7 45,001,639 (GRCm39) missense probably benign 0.19
R1566:Ppfia3 UTSW 7 44,990,112 (GRCm39) missense probably damaging 1.00
R1677:Ppfia3 UTSW 7 45,006,090 (GRCm39) missense probably benign 0.03
R1876:Ppfia3 UTSW 7 45,001,631 (GRCm39) missense possibly damaging 0.75
R2219:Ppfia3 UTSW 7 45,004,314 (GRCm39) nonsense probably null
R2336:Ppfia3 UTSW 7 45,006,121 (GRCm39) splice site probably null
R2843:Ppfia3 UTSW 7 45,005,852 (GRCm39) missense probably damaging 1.00
R2844:Ppfia3 UTSW 7 45,005,852 (GRCm39) missense probably damaging 1.00
R2846:Ppfia3 UTSW 7 45,005,852 (GRCm39) missense probably damaging 1.00
R4669:Ppfia3 UTSW 7 45,001,517 (GRCm39) missense probably damaging 1.00
R4777:Ppfia3 UTSW 7 44,990,581 (GRCm39) missense probably damaging 1.00
R4787:Ppfia3 UTSW 7 44,990,050 (GRCm39) missense possibly damaging 0.89
R4994:Ppfia3 UTSW 7 44,990,542 (GRCm39) missense probably damaging 1.00
R5042:Ppfia3 UTSW 7 44,991,765 (GRCm39) missense probably damaging 1.00
R6116:Ppfia3 UTSW 7 45,004,127 (GRCm39) missense probably damaging 1.00
R6515:Ppfia3 UTSW 7 44,989,657 (GRCm39) missense possibly damaging 0.94
R6868:Ppfia3 UTSW 7 45,003,036 (GRCm39) missense probably damaging 1.00
R6920:Ppfia3 UTSW 7 45,008,231 (GRCm39) missense possibly damaging 0.46
R6935:Ppfia3 UTSW 7 45,001,631 (GRCm39) missense possibly damaging 0.47
R6978:Ppfia3 UTSW 7 44,996,272 (GRCm39) missense probably benign 0.02
R7017:Ppfia3 UTSW 7 45,008,224 (GRCm39) missense probably benign
R7027:Ppfia3 UTSW 7 45,004,160 (GRCm39) missense possibly damaging 0.80
R7078:Ppfia3 UTSW 7 45,010,019 (GRCm39) missense probably damaging 1.00
R7256:Ppfia3 UTSW 7 44,991,167 (GRCm39) missense probably benign 0.43
R7378:Ppfia3 UTSW 7 45,010,870 (GRCm39) splice site probably null
R7570:Ppfia3 UTSW 7 44,990,172 (GRCm39) critical splice acceptor site probably null
R7814:Ppfia3 UTSW 7 45,001,686 (GRCm39) missense probably benign
R8298:Ppfia3 UTSW 7 45,009,618 (GRCm39) missense probably damaging 1.00
R8712:Ppfia3 UTSW 7 45,011,129 (GRCm39) missense probably benign 0.43
R8781:Ppfia3 UTSW 7 44,997,953 (GRCm39) missense possibly damaging 0.94
R8843:Ppfia3 UTSW 7 44,997,941 (GRCm39) missense probably benign 0.02
R8901:Ppfia3 UTSW 7 44,991,141 (GRCm39) missense probably damaging 1.00
R8984:Ppfia3 UTSW 7 44,990,100 (GRCm39) missense probably damaging 1.00
R9149:Ppfia3 UTSW 7 44,999,717 (GRCm39) critical splice acceptor site probably null
R9284:Ppfia3 UTSW 7 45,011,222 (GRCm39) missense probably damaging 1.00
R9427:Ppfia3 UTSW 7 45,008,213 (GRCm39) missense possibly damaging 0.46
R9683:Ppfia3 UTSW 7 45,005,999 (GRCm39) missense probably benign 0.29
R9803:Ppfia3 UTSW 7 44,990,539 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCAGAATCCTCCCTGTGCTG -3'
(R):5'- ATCTTGATCATATCCCCAAAACTTC -3'

Sequencing Primer
(F):5'- TGTGCTGCGCAGAGTCAG -3'
(R):5'- CCTCCCTAGTGCTGGGATTAAAG -3'
Posted On 2016-12-20