Incidental Mutation 'IGL02638:Ppfia3'
ID301620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppfia3
Ensembl Gene ENSMUSG00000003863
Gene Nameprotein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.661) question?
Stock #IGL02638
Quality Score
Status
Chromosome7
Chromosomal Location45339122-45367019 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45356668 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 149 (D149V)
Ref Sequence ENSEMBL: ENSMUSP00000147584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000210248] [ENSMUST00000211067]
Predicted Effect probably damaging
Transcript: ENSMUST00000003961
AA Change: D300V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: D300V

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 damaging
Transcript: ENSMUST00000210248
AA Change: D149V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210586
Predicted Effect probably damaging
Transcript: ENSMUST00000211067
AA Change: D300V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,430,479 K149* probably null Het
A830010M20Rik T C 5: 107,508,556 V895A possibly damaging Het
Alkbh3 T A 2: 94,008,113 T38S probably benign Het
BC055324 G A 1: 163,959,299 Q734* probably null Het
Cdkn2c A G 4: 109,665,012 probably benign Het
Clca4b A C 3: 144,926,178 C189G probably damaging Het
Clec4f T A 6: 83,652,700 N292I possibly damaging Het
Dkk3 A C 7: 112,149,027 S123R probably benign Het
Dock1 C T 7: 135,146,480 A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 Q403* probably null Het
F5 G A 1: 164,184,608 probably null Het
Fam98c T A 7: 29,152,762 D326V probably damaging Het
Frem2 A C 3: 53,551,346 V2034G possibly damaging Het
Galnt2 G A 8: 124,231,579 G18D probably damaging Het
Gm8394 T C 10: 85,313,834 noncoding transcript Het
Grhl3 T C 4: 135,556,865 E222G probably benign Het
Hif3a A C 7: 17,044,368 probably benign Het
Ibtk C T 9: 85,719,893 G755D probably damaging Het
Laptm4b A G 15: 34,277,484 N187S probably benign Het
Lrba A G 3: 86,325,073 T776A probably damaging Het
Mfhas1 T A 8: 35,590,950 W860R possibly damaging Het
Mon2 A C 10: 123,023,939 W811G probably damaging Het
Nupl2 A G 5: 24,175,507 T167A probably benign Het
Olfr1062 T C 2: 86,423,677 probably null Het
Olfr1128 T C 2: 87,544,749 Y265C probably damaging Het
Olfr1295 T C 2: 111,564,904 D180G probably damaging Het
Olfr30 C A 11: 58,455,047 A301S probably damaging Het
Olfr418 A G 1: 173,270,331 D52G probably benign Het
Pgap2 T C 7: 102,237,422 L217P probably damaging Het
Pik3c2b T G 1: 133,077,318 probably benign Het
Prkcb C T 7: 122,600,840 probably benign Het
Prl A G 13: 27,061,579 D97G probably benign Het
Rnf112 T C 11: 61,449,405 probably benign Het
Slc17a8 C A 10: 89,576,603 G323* probably null Het
Snx19 T C 9: 30,432,364 F607L possibly damaging Het
Suco A G 1: 161,827,687 S1079P probably damaging Het
Taf5 T C 19: 47,068,210 L149P probably benign Het
Taf6l T C 19: 8,775,266 M379V probably benign Het
Tcf25 T C 8: 123,399,292 F558L probably damaging Het
Tlcd1 T C 11: 78,179,618 V102A probably benign Het
Tmc5 G T 7: 118,627,233 A274S probably benign Het
Toporsl C T 4: 52,611,624 H506Y probably benign Het
Ubtd1 T C 19: 42,033,670 L127P possibly damaging Het
Usp24 A C 4: 106,438,770 probably benign Het
Usp24 C A 4: 106,438,772 probably benign Het
Usp43 T G 11: 67,855,755 D1042A probably benign Het
Whrn T C 4: 63,419,472 T48A possibly damaging Het
Wnt2b A G 3: 104,954,716 I102T probably benign Het
Zfp763 T C 17: 33,019,934 D79G probably benign Het
Zmat4 A G 8: 23,797,373 Y45C probably damaging Het
Other mutations in Ppfia3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Ppfia3 APN 7 45360057 splice site probably null
IGL02086:Ppfia3 APN 7 45340572 unclassified probably benign
IGL02160:Ppfia3 APN 7 45360051 splice site probably benign
IGL02373:Ppfia3 APN 7 45358849 missense probably damaging 0.98
IGL02417:Ppfia3 APN 7 45341717 missense probably damaging 0.98
IGL02501:Ppfia3 APN 7 45354938 splice site probably benign
IGL03084:Ppfia3 APN 7 45340227 missense probably benign 0.00
R0207:Ppfia3 UTSW 7 45348534 missense probably damaging 1.00
R0962:Ppfia3 UTSW 7 45347722 splice site probably benign
R1086:Ppfia3 UTSW 7 45361758 missense probably damaging 1.00
R1146:Ppfia3 UTSW 7 45352215 missense probably benign 0.19
R1146:Ppfia3 UTSW 7 45352215 missense probably benign 0.19
R1566:Ppfia3 UTSW 7 45340688 missense probably damaging 1.00
R1677:Ppfia3 UTSW 7 45356666 missense probably benign 0.03
R1876:Ppfia3 UTSW 7 45352207 missense possibly damaging 0.75
R2219:Ppfia3 UTSW 7 45354890 nonsense probably null
R2336:Ppfia3 UTSW 7 45356697 splice site probably null
R2843:Ppfia3 UTSW 7 45356428 missense probably damaging 1.00
R2844:Ppfia3 UTSW 7 45356428 missense probably damaging 1.00
R2846:Ppfia3 UTSW 7 45356428 missense probably damaging 1.00
R4669:Ppfia3 UTSW 7 45352093 missense probably damaging 1.00
R4777:Ppfia3 UTSW 7 45341157 missense probably damaging 1.00
R4787:Ppfia3 UTSW 7 45340626 missense possibly damaging 0.89
R4994:Ppfia3 UTSW 7 45341118 missense probably damaging 1.00
R5042:Ppfia3 UTSW 7 45342341 missense probably damaging 1.00
R5821:Ppfia3 UTSW 7 45353616 missense probably damaging 0.96
R6116:Ppfia3 UTSW 7 45354703 missense probably damaging 1.00
R6515:Ppfia3 UTSW 7 45340233 missense possibly damaging 0.94
R6868:Ppfia3 UTSW 7 45353612 missense probably damaging 1.00
R6920:Ppfia3 UTSW 7 45358807 missense possibly damaging 0.46
R6935:Ppfia3 UTSW 7 45352207 missense possibly damaging 0.47
R6978:Ppfia3 UTSW 7 45346848 missense probably benign 0.02
R7017:Ppfia3 UTSW 7 45358800 missense probably benign
R7027:Ppfia3 UTSW 7 45354736 missense possibly damaging 0.80
R7078:Ppfia3 UTSW 7 45360595 missense probably damaging 1.00
R7256:Ppfia3 UTSW 7 45341743 missense probably benign 0.43
Posted On2015-04-16