Incidental Mutation 'R7537:Appl2'
ID 583667
Institutional Source Beutler Lab
Gene Symbol Appl2
Ensembl Gene ENSMUSG00000020263
Gene Name adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Synonyms Dip3b
MMRRC Submission 045609-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7537 (G1)
Quality Score 148.008
Status Validated
Chromosome 10
Chromosomal Location 83435897-83484602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83453292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 208 (I208T)
Ref Sequence ENSEMBL: ENSMUSP00000020500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020500] [ENSMUST00000146876] [ENSMUST00000150685]
AlphaFold Q8K3G9
Predicted Effect possibly damaging
Transcript: ENSMUST00000020500
AA Change: I208T

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: I208T

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 possibly damaging
Transcript: ENSMUST00000146876
AA Change: I207T

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263
AA Change: I207T

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

PDB:4H8S|D 2 95 4e-59 PDB
Meta Mutation Damage Score 0.5985 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,967,637 (GRCm39) L2229P possibly damaging Het
Acaca T A 11: 84,151,460 (GRCm39) M786K probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adap1 T G 5: 139,278,928 (GRCm39) E117D possibly damaging Het
Ap5z1 T C 5: 142,463,053 (GRCm39) S746P probably benign Het
Astn1 A G 1: 158,332,956 (GRCm39) E346G possibly damaging Het
Astn1 G A 1: 158,495,208 (GRCm39) probably null Het
Atp23 T A 10: 126,704,594 (GRCm39) I180L unknown Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cdh23 A T 10: 60,220,724 (GRCm39) I1340N probably benign Het
Cdh8 G A 8: 99,825,517 (GRCm39) Q493* probably null Het
Ces1g T C 8: 94,046,455 (GRCm39) I357V probably benign Het
Ddx46 A G 13: 55,798,291 (GRCm39) D226G probably damaging Het
Eea1 C T 10: 95,830,767 (GRCm39) Q143* probably null Het
Erlin2 G T 8: 27,521,800 (GRCm39) probably null Het
Fat3 T A 9: 15,849,615 (GRCm39) D3929V probably damaging Het
Flt3 T C 5: 147,271,247 (GRCm39) D898G probably damaging Het
Gm16519 A G 17: 71,236,351 (GRCm39) N100S probably benign Het
Gnl1 A G 17: 36,299,428 (GRCm39) H533R probably damaging Het
Gphn A G 12: 78,551,454 (GRCm39) T301A possibly damaging Het
Herc2 C T 7: 55,869,527 (GRCm39) R4295* probably null Het
Insm2 T C 12: 55,646,303 (GRCm39) S16P possibly damaging Het
Jak2 C T 19: 29,276,037 (GRCm39) T778I probably benign Het
Lrriq3 A G 3: 154,806,734 (GRCm39) T128A probably damaging Het
Lst1 A G 17: 35,405,920 (GRCm39) probably null Het
Magi1 G T 6: 93,685,091 (GRCm39) Y762* probably null Het
Man2b1 T A 8: 85,817,594 (GRCm39) C358* probably null Het
Mga T C 2: 119,766,032 (GRCm39) V1432A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Morc2a C T 11: 3,633,566 (GRCm39) Q587* probably null Het
Mrc2 T C 11: 105,183,623 (GRCm39) I4T probably benign Het
Muc16 C A 9: 18,549,431 (GRCm39) V5621F probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myo3b A G 2: 70,047,513 (GRCm39) R340G probably benign Het
Nipal3 T C 4: 135,218,248 (GRCm39) Y34C probably damaging Het
Nktr T A 9: 121,578,345 (GRCm39) D804E unknown Het
Nlrp4b A G 7: 10,448,816 (GRCm39) M340V probably benign Het
Or1e26 T A 11: 73,480,094 (GRCm39) T157S probably benign Het
Or2ag2b G A 7: 106,417,581 (GRCm39) C97Y probably damaging Het
Or56a41 A T 7: 104,741,978 (GRCm39) M16K probably benign Het
Or5al5 A G 2: 85,961,608 (GRCm39) V133A probably benign Het
Pard3 T A 8: 128,337,063 (GRCm39) N1271K probably damaging Het
Pcdhb11 A T 18: 37,554,672 (GRCm39) M1L possibly damaging Het
Pclo T C 5: 14,732,118 (GRCm39) V3540A unknown Het
Pemt A G 11: 59,867,670 (GRCm39) F154S probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rnpc3 G T 3: 113,407,481 (GRCm39) T376K probably benign Het
Rpe65 A G 3: 159,310,246 (GRCm39) Y143C probably damaging Het
Sbk2 T C 7: 4,966,148 (GRCm39) E12G probably benign Het
Slc2a5 T C 4: 150,213,526 (GRCm39) I106T possibly damaging Het
Snx13 A G 12: 35,135,981 (GRCm39) D92G probably damaging Het
Sorl1 C T 9: 41,891,984 (GRCm39) V1889I probably benign Het
Spag17 A T 3: 99,846,563 (GRCm39) N29I possibly damaging Het
Speg T C 1: 75,378,108 (GRCm39) V878A probably damaging Het
Timp4 A G 6: 115,227,421 (GRCm39) S53P probably damaging Het
Tssk1 G T 16: 17,712,948 (GRCm39) E244D probably benign Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Vmn2r85 A T 10: 130,258,735 (GRCm39) V440E probably benign Het
Wdr59 T C 8: 112,217,001 (GRCm39) D270G Het
Zbbx G A 3: 74,992,826 (GRCm39) P223S probably damaging Het
Zfp936 T A 7: 42,839,239 (GRCm39) C235* probably null Het
Zranb3 A T 1: 127,960,584 (GRCm39) probably null Het
Other mutations in Appl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Appl2 APN 10 83,450,165 (GRCm39) missense possibly damaging 0.95
IGL01794:Appl2 APN 10 83,450,158 (GRCm39) missense probably benign
IGL01887:Appl2 APN 10 83,457,386 (GRCm39) unclassified probably benign
IGL03071:Appl2 APN 10 83,476,970 (GRCm39) critical splice acceptor site probably null
IGL03077:Appl2 APN 10 83,457,623 (GRCm39) unclassified probably benign
R0006:Appl2 UTSW 10 83,438,762 (GRCm39) missense probably damaging 1.00
R0006:Appl2 UTSW 10 83,438,762 (GRCm39) missense probably damaging 1.00
R0591:Appl2 UTSW 10 83,460,509 (GRCm39) missense possibly damaging 0.94
R1695:Appl2 UTSW 10 83,457,446 (GRCm39) missense probably damaging 0.99
R2217:Appl2 UTSW 10 83,444,601 (GRCm39) missense possibly damaging 0.47
R2218:Appl2 UTSW 10 83,444,601 (GRCm39) missense possibly damaging 0.47
R4782:Appl2 UTSW 10 83,436,855 (GRCm39) missense probably damaging 1.00
R4889:Appl2 UTSW 10 83,476,922 (GRCm39) missense probably damaging 1.00
R5109:Appl2 UTSW 10 83,436,871 (GRCm39) missense probably benign 0.06
R5460:Appl2 UTSW 10 83,438,696 (GRCm39) missense probably benign 0.00
R5512:Appl2 UTSW 10 83,441,682 (GRCm39) missense probably damaging 1.00
R6023:Appl2 UTSW 10 83,484,393 (GRCm39) missense probably null 0.00
R6047:Appl2 UTSW 10 83,448,765 (GRCm39) critical splice acceptor site probably null
R7403:Appl2 UTSW 10 83,450,059 (GRCm39) missense probably benign 0.00
R8488:Appl2 UTSW 10 83,446,866 (GRCm39) missense probably benign 0.02
R9203:Appl2 UTSW 10 83,476,879 (GRCm39) nonsense probably null
X0027:Appl2 UTSW 10 83,457,418 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-17