Incidental Mutation 'IGL03077:Appl2'
ID417746
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? Non essential (E-score: 0.000) question?
Stock #IGL03077
Quality Score
Status
Chromosome10
Chromosomal Location83600033-83648738 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 83621759 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G A 15: 8,212,795 probably benign Het
Abcg8 A G 17: 84,691,880 N135D probably damaging Het
Ak4 T C 4: 101,419,951 L44P probably damaging Het
Angpt1 C A 15: 42,476,422 G298* probably null Het
Arhgap19 T A 19: 41,781,321 H341L probably benign Het
Chmp5 T C 4: 40,952,438 S98P probably benign Het
Chp1 A T 2: 119,584,600 Q161L probably benign Het
Clgn T C 8: 83,424,140 V478A probably benign Het
Cyp2b19 A T 7: 26,762,384 M210L probably benign Het
Eif4g3 T A 4: 138,125,855 V244D probably damaging Het
Ftcd T C 10: 76,581,627 I300T probably damaging Het
Gm12886 C T 4: 121,415,500 probably benign Het
Klrb1f A T 6: 129,053,802 E92V probably null Het
Krt23 A G 11: 99,483,874 probably benign Het
Mib2 T G 4: 155,659,443 R47S probably benign Het
Mindy4 A G 6: 55,309,330 T728A probably damaging Het
Myh15 A G 16: 49,096,538 N407S probably benign Het
Nlrp4f A G 13: 65,194,598 V411A probably benign Het
Olfr1118 T C 2: 87,309,712 *328Q probably null Het
Olfr1255 A C 2: 89,817,142 D266A probably damaging Het
Otud4 T G 8: 79,673,458 S934A probably damaging Het
P3h1 C T 4: 119,236,786 R213W probably damaging Het
Phrf1 A T 7: 141,254,968 K19* probably null Het
Prl3b1 A T 13: 27,245,776 M66L probably benign Het
Psmd7 T C 8: 107,582,467 T149A probably benign Het
Samd4b T C 7: 28,406,443 D450G probably damaging Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Snrpa G A 7: 27,191,761 T95I probably benign Het
Traip A G 9: 107,962,926 probably benign Het
Trbc1 T A 6: 41,538,449 probably benign Het
Trim72 A T 7: 128,007,841 M181L probably benign Het
Ttc41 T C 10: 86,758,348 Y882H probably damaging Het
Vmn1r191 A C 13: 22,179,146 I146S probably benign Het
Vmn2r9 G T 5: 108,848,307 probably benign Het
Vps13a A G 19: 16,710,882 S854P probably benign Het
Wdfy1 T C 1: 79,714,905 K232E possibly damaging Het
Xpr1 A T 1: 155,281,028 D625E possibly damaging Het
Zbbx T A 3: 75,081,846 T317S possibly damaging 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
IGL01887:Appl2 APN 10 83621522 unclassified probably benign
IGL03071:Appl2 APN 10 83641106 critical splice acceptor site probably null
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
R7403:Appl2 UTSW 10 83614195 missense probably benign 0.00
R7537:Appl2 UTSW 10 83617428 missense possibly damaging 0.69
X0027:Appl2 UTSW 10 83621554 missense probably damaging 1.00
Posted On2016-08-02