Incidental Mutation 'R4777:Ppfia3'
ID 368017
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 041992-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44988550-45016443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44990581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1066 (G1066V)
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: G1066V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: G1066V

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: ENSMUST00000107779
AA Change: G1066V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103408
Gene: ENSMUSG00000003863
AA Change: G1066V

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 noncoding transcript
Transcript: ENSMUST00000127948
AA Change: G2W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131154
AA Change: W1254C
Predicted Effect probably damaging
Transcript: ENSMUST00000137578
AA Change: G906V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118183
Gene: ENSMUSG00000003863
AA Change: G906V

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: G906V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211067
AA Change: G1066V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210844
Predicted Effect probably benign
Transcript: ENSMUST00000211327
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cep152 C T 2: 125,406,015 (GRCm39) V1506I probably benign Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Impdh1 G T 6: 29,205,201 (GRCm39) A200E possibly damaging Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Or1r1 A G 11: 73,875,221 (GRCm39) V71A probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Wdr33 C T 18: 32,014,301 (GRCm39) H388Y probably damaging Het
Zfp451 A T 1: 33,821,186 (GRCm39) V222D possibly damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign 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
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'- AGTTGCCGAGCCTGGAAAAG -3'
(R):5'- CCTAGTTGGCCAGAAGATGAG -3'

Sequencing Primer
(F):5'- TTGCCGAGCCTGGAAAAGAAAAG -3'
(R):5'- CCAGCATAGAGATTTAGCTAGGC -3'
Posted On 2015-12-29