Incidental Mutation 'R9427:Ppfia3'
ID 712676
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R9427 (G1)
Quality Score 158.009
Status Not validated
Chromosome 7
Chromosomal Location 44988550-45016443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45008213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 219 (Q219R)
Ref Sequence ENSEMBL: ENSMUSP00000003961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000210248] [ENSMUST00000211067]
AlphaFold P60469
Predicted Effect possibly damaging
Transcript: ENSMUST00000003961
AA Change: Q219R

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: Q219R

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 probably benign
Transcript: ENSMUST00000210248
AA Change: Q68R

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211067
AA Change: Q219R

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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. 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T C 2: 103,531,244 (GRCm39) L458P probably damaging Het
Adgrl2 T C 3: 148,526,068 (GRCm39) N130S Het
Adgrv1 T C 13: 81,732,234 (GRCm39) S161G probably benign Het
Aldh1l1 A G 6: 90,536,903 (GRCm39) D153G probably benign Het
Arhgap20 G A 9: 51,754,991 (GRCm39) S444N probably damaging Het
Bpifc A G 10: 85,812,129 (GRCm39) F360L probably benign Het
Cacna1s A T 1: 136,012,090 (GRCm39) I511F probably benign Het
Chdh G A 14: 29,758,806 (GRCm39) V584I probably benign Het
Col12a1 T C 9: 79,589,445 (GRCm39) R1037G probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T C 9: 105,816,992 (GRCm39) N440D unknown Het
Dsel A T 1: 111,787,425 (GRCm39) Y1037N probably damaging Het
Eloa A G 4: 135,748,935 (GRCm39) M1T probably null Het
Elp2 C G 18: 24,755,560 (GRCm39) P436A probably damaging Het
Etv5 A C 16: 22,218,112 (GRCm39) S328A probably damaging Het
Fat3 A T 9: 16,288,691 (GRCm39) Y277* probably null Het
Fbxo38 A T 18: 62,644,160 (GRCm39) H899Q probably benign Het
Fstl5 T C 3: 76,229,583 (GRCm39) V128A Het
Gm3371 T C 14: 44,641,066 (GRCm39) E166G Het
Herc6 T C 6: 57,636,722 (GRCm39) S813P probably damaging Het
Ifnlr1 G A 4: 135,426,142 (GRCm39) G75D probably damaging Het
Kbtbd2 A T 6: 56,756,132 (GRCm39) C535S probably damaging Het
Lgr5 A C 10: 115,288,913 (GRCm39) L577W probably damaging Het
Limk1 A T 5: 134,686,358 (GRCm39) D590E probably benign Het
Lnpep A T 17: 17,795,609 (GRCm39) S301T probably benign Het
Lrch1 A C 14: 75,032,787 (GRCm39) V521G probably benign Het
Lrrc71 T C 3: 87,650,368 (GRCm39) H235R probably benign Het
Mttp A G 3: 137,820,962 (GRCm39) S282P probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or2t1 G A 14: 14,328,456 (GRCm38) G115D probably damaging Het
Or55b10 T A 7: 102,143,206 (GRCm39) T259S probably benign Het
Or5a3 T C 19: 12,399,889 (GRCm39) V72A Het
Or5m13 T C 2: 85,748,704 (GRCm39) V145A probably benign Het
Or7a41 C T 10: 78,871,395 (GRCm39) T255I probably damaging Het
Or7c70 A G 10: 78,682,906 (GRCm39) V281A probably damaging Het
Pira12 T G 7: 3,897,284 (GRCm39) probably null Het
Prdm5 T A 6: 65,771,321 (GRCm39) M44K possibly damaging Het
Psmc5 T C 11: 106,153,303 (GRCm39) I315T probably damaging Het
Ptprd T A 4: 76,051,440 (GRCm39) E27V probably benign Het
Rft1 T A 14: 30,411,781 (GRCm39) I443N probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Slco1a5 A G 6: 142,214,001 (GRCm39) M40T probably damaging Het
Svep1 T C 4: 58,069,804 (GRCm39) T2661A possibly damaging Het
Tigit T C 16: 43,482,515 (GRCm39) D73G probably benign Het
Tmem237 G A 1: 59,159,213 (GRCm39) probably benign Het
Trim42 T C 9: 97,247,874 (GRCm39) D274G probably damaging Het
Trmt61a C A 12: 111,647,490 (GRCm39) L196I probably damaging Het
Tspan8 T C 10: 115,669,213 (GRCm39) C83R probably damaging Het
Ttc7 CCTGCTGCTGCTGCTGCTG CCTGCTGCTGCTGCTG 17: 87,678,147 (GRCm39) probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Unc80 G A 1: 66,594,158 (GRCm39) G1179E probably damaging Het
Vmn2r2 A G 3: 64,041,945 (GRCm39) S257P probably damaging Het
Xpo6 G T 7: 125,748,418 (GRCm39) Y404* probably null 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
R5821:Ppfia3 UTSW 7 45,003,040 (GRCm39) missense probably damaging 0.96
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
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'- CGCTCATTAGAAAGTCAGGAGG -3'
(R):5'- GCTGGAACTGAGCAATCAGG -3'

Sequencing Primer
(F):5'- CGTAGGCTTGCACTTTTAATGAC -3'
(R):5'- TCTGAAGACAGCTACAGTGTAC -3'
Posted On 2022-05-16