Incidental Mutation 'R5512:Appl2'
ID 440114
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5512 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 83435897-83484602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83441682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 524 (I524F)
Ref Sequence ENSEMBL: ENSMUSP00000020500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020500]
AlphaFold Q8K3G9
Predicted Effect probably damaging
Transcript: ENSMUST00000020500
AA Change: I524F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: I524F

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: ENSMUST00000127788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150351
Predicted Effect probably benign
Transcript: ENSMUST00000176675
Predicted Effect probably benign
Transcript: ENSMUST00000177187
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A G 7: 130,952,389 (GRCm39) V364A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Adgre5 T C 8: 84,455,715 (GRCm39) N198D probably benign Het
Adgrf4 G T 17: 42,978,176 (GRCm39) T389K probably benign Het
Apc T A 18: 34,443,962 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,632,845 (GRCm39) Q531* probably null Het
Atp7b T C 8: 22,502,755 (GRCm39) T694A probably benign Het
Cacna1g T A 11: 94,334,968 (GRCm39) I780F probably damaging Het
Calcoco2 T C 11: 95,994,162 (GRCm39) K95E probably damaging Het
Cars1 T C 7: 143,123,870 (GRCm39) D388G possibly damaging Het
Ccdc150 A C 1: 54,393,806 (GRCm39) E690A probably damaging Het
Cdc73 G T 1: 143,578,354 (GRCm39) D3E probably damaging Het
Cdh23 C A 10: 60,370,165 (GRCm39) probably null Het
Cep170b T C 12: 112,699,919 (GRCm39) S143P possibly damaging Het
Cherp T C 8: 73,217,110 (GRCm39) I607V possibly damaging Het
CN725425 T A 15: 91,124,959 (GRCm39) H166Q probably benign Het
Dcaf6 A G 1: 165,227,404 (GRCm39) V241A possibly damaging Het
Dot1l C T 10: 80,624,825 (GRCm39) P881S possibly damaging Het
Drgx A G 14: 32,322,001 (GRCm39) H5R probably damaging Het
Dsg1c A T 18: 20,405,568 (GRCm39) N327I probably damaging Het
Fbxw7 G A 3: 84,862,216 (GRCm39) R182H probably damaging Het
Fkbp1b A T 12: 4,888,183 (GRCm39) V24E probably benign Het
Fut11 T C 14: 20,746,069 (GRCm39) S304P probably damaging Het
Ggt1 C T 10: 75,420,718 (GRCm39) T361I probably damaging Het
Gimap7 G T 6: 48,700,530 (GRCm39) A39S probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm17541 G T 12: 4,739,452 (GRCm39) probably benign Het
Gmip T A 8: 70,270,540 (GRCm39) V750E probably benign Het
Gna14 A G 19: 16,585,492 (GRCm39) E290G probably benign Het
Gpnmb T C 6: 49,022,398 (GRCm39) V176A possibly damaging Het
Hhla1 T C 15: 65,795,865 (GRCm39) K447R probably benign Het
Hsd3b1 A G 3: 98,760,521 (GRCm39) Y157H probably benign Het
Iqgap2 G A 13: 95,811,884 (GRCm39) Q706* probably null Het
Krt222 A C 11: 99,125,781 (GRCm39) S283R probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Masp2 A T 4: 148,698,526 (GRCm39) I536F probably damaging Het
Mptx1 A G 1: 174,160,315 (GRCm39) D207G probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Napsa A G 7: 44,222,040 (GRCm39) M1V probably null Het
Ncam1 A T 9: 49,420,999 (GRCm39) probably null Het
Nckap5 G A 1: 125,955,481 (GRCm39) P425L possibly damaging Het
Nol8 A G 13: 49,830,263 (GRCm39) S1116G probably benign Het
Nrde2 G T 12: 100,108,509 (GRCm39) Q361K probably benign Het
Nudt13 G A 14: 20,357,800 (GRCm39) G133D probably damaging Het
Ofcc1 G T 13: 40,360,286 (GRCm39) Q248K probably benign Het
Olfm4 A G 14: 80,258,787 (GRCm39) D345G probably benign Het
Or2t6 C A 14: 14,175,633 (GRCm38) G150C probably damaging Het
Or4k41 G A 2: 111,280,099 (GRCm39) V205I probably benign Het
Osbpl3 T G 6: 50,286,340 (GRCm39) K659N probably damaging Het
Pdk2 G A 11: 94,930,292 (GRCm39) T48M probably damaging Het
Phf11a A T 14: 59,524,999 (GRCm39) D68E probably benign Het
Purb A G 11: 6,425,702 (GRCm39) V62A probably damaging Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Rtl1 C T 12: 109,557,805 (GRCm39) E1345K unknown Het
Sema3e G A 5: 14,280,194 (GRCm39) A358T probably damaging Het
Slc29a2 A G 19: 5,076,426 (GRCm39) I105V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc6a5 G A 7: 49,591,573 (GRCm39) V513I probably damaging Het
Slco4a1 T A 2: 180,115,907 (GRCm39) F681Y possibly damaging Het
Sp1 A G 15: 102,339,445 (GRCm39) N775S possibly damaging Het
Sspo T A 6: 48,432,605 (GRCm39) V827D probably damaging Het
Taar7f C T 10: 23,926,321 (GRCm39) T305M possibly damaging Het
Tars2 A T 3: 95,657,728 (GRCm39) C238S probably damaging Het
Tasor2 A T 13: 3,645,517 (GRCm39) Y111N probably damaging Het
Tnks1bp1 C A 2: 84,893,178 (GRCm39) P373Q probably benign Het
Tnpo3 A G 6: 29,575,045 (GRCm39) L373P probably damaging Het
Unc45b A C 11: 82,805,898 (GRCm39) D135A possibly damaging Het
Vmn1r235 A T 17: 21,481,677 (GRCm39) M1L probably benign Het
Vmn2r66 T C 7: 84,657,149 (GRCm39) I85M probably damaging Het
Vmn2r80 T G 10: 79,004,066 (GRCm39) L93W probably benign Het
Vwf G T 6: 125,650,850 (GRCm39) probably benign Het
Ythdf3 A G 3: 16,238,086 (GRCm39) R9G probably damaging Het
Zfp229 A G 17: 21,964,017 (GRCm39) probably null Het
Zfp958 A C 8: 4,675,838 (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
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
R7537:Appl2 UTSW 10 83,453,292 (GRCm39) missense possibly damaging 0.69
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
(F):5'- AGCTCTGGGTCAGAATGTACC -3'
(R):5'- TAAGGGGTCAGAGCTTTTGTAACAC -3'

Sequencing Primer
(F):5'- CTGGGTCAGAATGTACCTTTTATTC -3'
(R):5'- CAGAGCTTTTGTAACACTGGGC -3'
Posted On 2016-11-08