Incidental Mutation 'IGL01887:Appl2'
ID179180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Appl2
Ensembl Gene ENSMUSG00000020263
Gene Nameadaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
SynonymsDip3b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL01887
Quality Score
Status
Chromosome10
Chromosomal Location83600033-83648738 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 83621522 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020500] [ENSMUST00000146876] [ENSMUST00000150685] [ENSMUST00000176294]
Predicted Effect probably benign
Transcript: ENSMUST00000020500
SMART Domains Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263

DomainStartEndE-ValueType
Pfam:BAR_3 7 248 6.4e-69 PFAM
PH 278 377 1.2e-7 SMART
Pfam:PTB 491 613 6e-7 PFAM
Pfam:PID 492 611 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133719
Predicted Effect probably benign
Transcript: ENSMUST00000146876
SMART Domains Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263

DomainStartEndE-ValueType
PDB:4H8S|D 2 209 1e-141 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147582
Predicted Effect probably benign
Transcript: ENSMUST00000150685
SMART Domains Protein: ENSMUSP00000115903
Gene: ENSMUSG00000020263

DomainStartEndE-ValueType
PDB:4H8S|D 2 95 4e-59 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000176294
SMART Domains Protein: ENSMUSP00000135645
Gene: ENSMUSG00000020263

DomainStartEndE-ValueType
PDB:4H8S|D 2 95 1e-53 PDB
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 one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele display altered red blood cell physiology. Mutant MEFs exhibit defects in HGF-induced Akt activation, migration, and invasion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A G 15: 84,406,650 L152P probably damaging Het
Faap20 T C 4: 155,256,200 V158A probably damaging Het
Fam214a A G 9: 75,017,057 I861V probably benign Het
Filip1 A T 9: 79,819,617 D573E probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Lins1 T C 7: 66,710,381 I168T probably damaging Het
Myo5b A G 18: 74,714,936 R1082G probably benign Het
Olfr1089 A G 2: 86,732,686 C309R probably benign Het
Olfr1110 A G 2: 87,135,541 I260T possibly damaging Het
Pomt2 C T 12: 87,119,589 V439I probably damaging Het
Rars A T 11: 35,825,995 D231E probably benign Het
Slf1 A T 13: 77,100,982 N362K probably benign Het
Smad2 T C 18: 76,299,894 V299A probably damaging Het
Tead2 T C 7: 45,232,310 V84A probably damaging Het
Tnni3k A T 3: 154,875,187 probably null Het
Trp63 C T 16: 25,865,319 R319C probably damaging Het
Vmn1r203 G A 13: 22,524,876 V276I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp318 G T 17: 46,399,168 V606L probably benign Het
Other mutations in Appl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Appl2 APN 10 83614301 missense possibly damaging 0.95
IGL01794:Appl2 APN 10 83614294 missense probably benign
IGL03071:Appl2 APN 10 83641106 critical splice acceptor site probably null
IGL03077:Appl2 APN 10 83621759 unclassified probably benign
R0006:Appl2 UTSW 10 83602898 missense probably damaging 1.00
R0006:Appl2 UTSW 10 83602898 missense probably damaging 1.00
R0591:Appl2 UTSW 10 83624645 missense possibly damaging 0.94
R1695:Appl2 UTSW 10 83621582 missense probably damaging 0.99
R2217:Appl2 UTSW 10 83608737 missense possibly damaging 0.47
R2218:Appl2 UTSW 10 83608737 missense possibly damaging 0.47
R4782:Appl2 UTSW 10 83600991 missense probably damaging 1.00
R4889:Appl2 UTSW 10 83641058 missense probably damaging 1.00
R5109:Appl2 UTSW 10 83601007 missense probably benign 0.06
R5460:Appl2 UTSW 10 83602832 missense probably benign 0.00
R5512:Appl2 UTSW 10 83605818 missense probably damaging 1.00
R6023:Appl2 UTSW 10 83648529 missense probably null 0.00
R6047:Appl2 UTSW 10 83612901 critical splice acceptor site probably null
X0027:Appl2 UTSW 10 83621554 missense probably damaging 1.00
Posted On2014-05-07