Incidental Mutation 'R5109:Appl2'
ID 393753
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 042697-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5109 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 83435897-83484602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83436871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 630 (V630E)
Ref Sequence ENSEMBL: ENSMUSP00000020500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020500] [ENSMUST00000038388]
AlphaFold Q8K3G9
Predicted Effect probably benign
Transcript: ENSMUST00000020500
AA Change: V630E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: V630E

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 probably benign
Transcript: ENSMUST00000038388
SMART Domains Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560

DomainStartEndE-ValueType
Pfam:WASH-7_N 32 604 4.8e-245 PFAM
Pfam:WASH-7_mid 605 949 7.9e-176 PFAM
low complexity region 954 965 N/A INTRINSIC
Pfam:WASH-7_C 966 1135 9.1e-76 PFAM
low complexity region 1138 1156 N/A INTRINSIC
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: ENSMUST00000177187
Predicted Effect probably benign
Transcript: ENSMUST00000176675
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 95% (78/82)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T C 5: 90,391,395 (GRCm39) S1841G possibly damaging Het
Anxa10 T C 8: 62,516,093 (GRCm39) E193G possibly damaging Het
Ap3d1 T C 10: 80,545,284 (GRCm39) S1056G probably benign Het
Apbb1 T C 7: 105,214,242 (GRCm39) N62D probably damaging Het
Apobec2 A T 17: 48,730,022 (GRCm39) Y215N probably damaging Het
Apobec2 T A 17: 48,730,024 (GRCm39) Y214F probably damaging Het
Bud23 T C 5: 135,089,877 (GRCm39) probably benign Het
Cacna1b A T 2: 24,580,797 (GRCm39) M683K possibly damaging Het
Cbfa2t2 T A 2: 154,373,293 (GRCm39) D187E probably damaging Het
Cfap54 G T 10: 92,773,753 (GRCm39) F96L probably benign Het
Cimap1a A T 7: 140,429,461 (GRCm39) S197C probably benign Het
Crebbp A G 16: 3,906,295 (GRCm39) probably benign Het
Crocc C T 4: 140,755,722 (GRCm39) R1102Q probably damaging Het
Dcaf12 T C 4: 41,298,329 (GRCm39) D273G possibly damaging Het
Dchs1 T C 7: 105,414,221 (GRCm39) T865A probably benign Het
Dhfr A T 13: 92,491,788 (GRCm39) I8F probably damaging Het
Dnaja2 A T 8: 86,279,887 (GRCm39) F97L possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Doc2b T C 11: 75,667,967 (GRCm39) D261G probably benign Het
Ear1 A G 14: 44,056,485 (GRCm39) Y128H probably benign Het
Elac2 T A 11: 64,883,142 (GRCm39) I171N probably damaging Het
Entpd3 C A 9: 120,395,380 (GRCm39) N454K possibly damaging Het
Flrt3 A G 2: 140,502,663 (GRCm39) S322P possibly damaging Het
Fn1 C T 1: 71,688,394 (GRCm39) C170Y probably damaging Het
Gabbr1 T A 17: 37,382,920 (GRCm39) probably benign Het
Gm7247 T G 14: 51,602,774 (GRCm39) S37A probably damaging Het
Gm8775 T A 3: 4,277,008 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gria4 A C 9: 4,472,168 (GRCm39) N440K probably damaging Het
H2-T22 T A 17: 36,350,113 (GRCm39) R334* probably null Het
Ift172 T C 5: 31,423,330 (GRCm39) D817G probably benign Het
Igkv9-124 T A 6: 67,919,348 (GRCm39) R21S possibly damaging Het
Itgam G A 7: 127,712,390 (GRCm39) V846I probably benign Het
Kif11 T A 19: 37,373,063 (GRCm39) M94K possibly damaging Het
Krtcap2 T C 3: 89,154,085 (GRCm39) V2A probably benign Het
Lrrc47 A G 4: 154,101,933 (GRCm39) D400G probably damaging Het
Man2a1 T A 17: 65,059,443 (GRCm39) V1110E probably benign Het
Mfsd9 T A 1: 40,813,365 (GRCm39) I317F probably damaging Het
Mindy4 A T 6: 55,193,730 (GRCm39) probably null Het
Mrpl53 A G 6: 83,086,541 (GRCm39) T82A probably damaging Het
Myo3b A G 2: 69,925,637 (GRCm39) K35E possibly damaging Het
Nalcn A G 14: 123,515,650 (GRCm39) V1717A possibly damaging Het
Ncoa2 A G 1: 13,257,070 (GRCm39) V143A probably damaging Het
Ndufa9 A C 6: 126,809,520 (GRCm39) probably null Het
Or10ag60 G A 2: 87,438,319 (GRCm39) G196R possibly damaging Het
Or10ag60 G A 2: 87,437,755 (GRCm39) A8T possibly damaging Het
Or12e9 A G 2: 87,201,878 (GRCm39) M1V probably null Het
Or5k17 A G 16: 58,746,422 (GRCm39) S171P probably benign Het
Or5p55 T C 7: 107,567,104 (GRCm39) S167P probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or7g28 A T 9: 19,272,438 (GRCm39) I71N probably damaging Het
Or9g8 G A 2: 85,607,668 (GRCm39) V247M probably damaging Het
Pde4b G T 4: 102,458,741 (GRCm39) A466S probably damaging Het
Pfkfb3 A T 2: 11,491,162 (GRCm39) probably benign Het
Ppp1r21 A G 17: 88,866,268 (GRCm39) K355E probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbms1 G A 2: 60,612,284 (GRCm39) L161F probably damaging Het
Rdh16f2 A G 10: 127,702,672 (GRCm39) D83G probably damaging Het
Sec16b C T 1: 157,392,361 (GRCm39) R910* probably null Het
Sema4c CTGGGCTT C 1: 36,591,381 (GRCm39) probably null Het
Spata31e5 T C 1: 28,816,636 (GRCm39) I465M possibly damaging Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,558 (GRCm39) N82S probably damaging Het
Tlr2 A T 3: 83,745,030 (GRCm39) V351D probably damaging Het
Tmem39a G A 16: 38,411,326 (GRCm39) G359D probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r17 C A 5: 109,577,342 (GRCm39) F464L probably benign Het
Vmn2r49 T A 7: 9,710,204 (GRCm39) T843S probably benign Het
Vmn2r7 T C 3: 64,598,088 (GRCm39) D823G probably null Het
Wrnip1 T A 13: 33,000,319 (GRCm39) L442Q probably damaging Het
Zbtb38 G T 9: 96,569,062 (GRCm39) S674Y probably damaging Het
Zfp639 T G 3: 32,574,585 (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
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
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'- TACACTCCGCACGTGATTG -3'
(R):5'- TCGAGTCTTCAGATGACAGCAC -3'

Sequencing Primer
(F):5'- AAATTCAGGTCACTGTGCCTG -3'
(R):5'- GTCTTCAGATGACAGCACAGACTAG -3'
Posted On 2016-06-15