Incidental Mutation 'IGL01681:Appl2'
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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL01681
Quality Score
Chromosomal Location83600033-83648738 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83614301 bp
Amino Acid Change Isoleucine to Phenylalanine at position 236 (I236F)
Ref Sequence ENSEMBL: ENSMUSP00000020500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020500] [ENSMUST00000146876]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020500
AA Change: I236F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: I236F

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: ENSMUST00000127788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130285
Predicted Effect probably benign
Transcript: ENSMUST00000146876
SMART Domains Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263

PDB:4H8S|D 2 209 1e-141 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150351
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T A 18: 80,127,888 E1102V probably damaging Het
Asb15 C A 6: 24,567,138 T486K probably damaging Het
Bsdc1 T C 4: 129,465,348 probably null Het
Cts8 G T 13: 61,253,619 Q61K probably benign Het
Cyp2d34 C T 15: 82,617,131 probably null Het
Dnah12 A G 14: 26,722,160 T575A probably benign Het
Dync2h1 T C 9: 7,142,196 probably null Het
Fam170a A G 18: 50,282,235 D316G possibly damaging Het
Gtf2h3 T A 5: 124,594,791 L216Q probably damaging Het
Heatr6 T A 11: 83,765,000 S306T probably benign Het
Hey2 A G 10: 30,834,137 S207P probably benign Het
Kng2 T A 16: 22,997,017 probably benign Het
Lama2 C T 10: 27,265,045 E653K probably benign Het
Lrrcc1 T C 3: 14,548,226 V37A probably benign Het
Neb T C 2: 52,201,486 D5085G probably damaging Het
Nexn T C 3: 152,243,870 M321V possibly damaging Het
Nsmce3 A G 7: 64,872,473 I149T probably benign Het
Oxct1 T G 15: 4,101,844 S405A possibly damaging Het
Pdpr T A 8: 111,132,936 N703K probably damaging Het
Scn10a A T 9: 119,694,077 D83E probably damaging Het
Slc47a2 C T 11: 61,338,040 A104T probably damaging Het
Slc4a2 A G 5: 24,434,187 I393V probably damaging Het
Thoc6 A T 17: 23,669,883 L184M possibly damaging Het
Tjp2 C T 19: 24,134,849 probably null Het
Tmem63b A G 17: 45,663,571 L591P probably damaging Het
Tnrc6b A G 15: 80,879,311 probably null Het
Trmt5 G T 12: 73,282,603 probably benign Het
Ubap1l T A 9: 65,373,919 M293K probably benign Het
Yars A G 4: 129,206,142 E211G probably damaging Het
Zbbx A C 3: 75,052,478 Y595D probably damaging Het
Zc3h10 G A 10: 128,545,240 Q83* probably null Het
Zcchc3 T C 2: 152,414,005 N258S probably damaging Het
Other mutations in Appl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2014-01-21