Incidental Mutation 'R1566:Ppfia3'
ID 175269
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 039605-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44988550-45016443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44990112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1138 (D1138G)
Ref Sequence ENSEMBL: ENSMUSP00000148200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000211067] [ENSMUST00000211327]
AlphaFold P60469
Predicted Effect probably damaging
Transcript: ENSMUST00000003961
AA Change: D1138G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: D1138G

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: ENSMUST00000085351
SMART Domains Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 32 45 N/A INTRINSIC
internal_repeat_1 51 146 8.76e-11 PROSPERO
low complexity region 154 189 N/A INTRINSIC
Pfam:Hist_rich_Ca-bd 213 225 1e-4 PFAM
low complexity region 240 254 N/A INTRINSIC
low complexity region 260 274 N/A INTRINSIC
low complexity region 287 304 N/A INTRINSIC
Pfam:Hist_rich_Ca-bd 308 324 2.2e-8 PFAM
low complexity region 340 353 N/A INTRINSIC
low complexity region 362 382 N/A INTRINSIC
internal_repeat_1 399 490 8.76e-11 PROSPERO
coiled coil region 536 565 N/A INTRINSIC
low complexity region 571 582 N/A INTRINSIC
coiled coil region 594 621 N/A INTRINSIC
low complexity region 632 648 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210248
AA Change: D978G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210844
Predicted Effect probably damaging
Transcript: ENSMUST00000211067
AA Change: D1138G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211098
Predicted Effect probably benign
Transcript: ENSMUST00000211327
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly 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
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
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'- TGCACACTAGCAGGAGTAAGTCCG -3'
(R):5'- ACCTCATCTCCTTAGGCACAGACAG -3'

Sequencing Primer
(F):5'- ccactgagccacacacc -3'
(R):5'- GTTGCACTTACAGATCAGCG -3'
Posted On 2014-04-24