Incidental Mutation 'R2145:Appl1'
ID 233769
Institutional Source Beutler Lab
Gene Symbol Appl1
Ensembl Gene ENSMUSG00000040760
Gene Name adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Synonyms 7330406P05Rik, 2900057D21Rik
MMRRC Submission 040148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R2145 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26640943-26692567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26671576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 292 (L292S)
Ref Sequence ENSEMBL: ENSMUSP00000042875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036570]
AlphaFold Q8K3H0
Predicted Effect possibly damaging
Transcript: ENSMUST00000036570
AA Change: L292S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: L292S

DomainStartEndE-ValueType
Pfam:BAR_3 7 249 2.6e-66 PFAM
PH 278 377 1.4e-3 SMART
low complexity region 425 434 N/A INTRINSIC
Pfam:PID 501 632 6.6e-12 PFAM
low complexity region 645 660 N/A INTRINSIC
low complexity region 679 700 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142645
Meta Mutation Damage Score 0.4130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (101/104)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,953,701 (GRCm39) N535S probably benign Het
Abcc6 A T 7: 45,648,165 (GRCm39) L717Q probably benign Het
Abraxas2 C A 7: 132,484,790 (GRCm39) Q278K probably benign Het
Acap2 A T 16: 30,924,342 (GRCm39) D637E probably benign Het
AI661453 A G 17: 47,777,023 (GRCm39) probably benign Het
Aoah A T 13: 21,024,266 (GRCm39) E74V probably damaging Het
Aoc1l1 A T 6: 48,953,629 (GRCm39) D518V probably damaging Het
Astl T A 2: 127,189,109 (GRCm39) V166E probably damaging Het
Bbs1 T G 19: 4,953,735 (GRCm39) K143Q possibly damaging Het
Bbx T C 16: 50,094,907 (GRCm39) probably benign Het
Birc6 A T 17: 74,967,408 (GRCm39) Q4103L possibly damaging Het
C1qtnf2 T G 11: 43,381,811 (GRCm39) F178V probably damaging Het
Camta2 A G 11: 70,562,401 (GRCm39) F999L probably benign Het
Cfap68 T C 9: 50,676,174 (GRCm39) Y32C probably damaging Het
Clcn7 A G 17: 25,363,425 (GRCm39) I34V probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Des C A 1: 75,340,108 (GRCm39) probably benign Het
Dgcr8 A T 16: 18,098,094 (GRCm39) D432E probably benign Het
Dlgap5 G A 14: 47,633,380 (GRCm39) R549* probably null Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dmxl2 T C 9: 54,323,194 (GRCm39) T1397A probably damaging Het
Dnmt1 T A 9: 20,848,451 (GRCm39) probably benign Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Dtwd1 C A 2: 126,001,904 (GRCm39) T208N probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dync1i2 T A 2: 71,044,907 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,499,383 (GRCm39) M1251K probably benign Het
Fmod T C 1: 133,968,256 (GRCm39) Y99H probably benign Het
Fn1 A T 1: 71,645,163 (GRCm39) V1552D probably damaging Het
Fnip2 A T 3: 79,407,739 (GRCm39) S281T probably damaging Het
Glb1 A G 9: 114,293,233 (GRCm39) H536R probably benign Het
Glis2 T A 16: 4,431,506 (GRCm39) S344R possibly damaging Het
Gm4847 A T 1: 166,462,472 (GRCm39) S339R probably benign Het
Gpr155 A G 2: 73,187,002 (GRCm39) S44P probably benign Het
Gprin1 G A 13: 54,886,445 (GRCm39) P610S probably damaging Het
Gvin3 T A 7: 106,202,215 (GRCm39) H343L possibly damaging Het
H2-Ob A T 17: 34,461,554 (GRCm39) M98L probably benign Het
H3c6 T C 13: 23,746,530 (GRCm39) T4A probably benign Het
Hmcn2 T C 2: 31,223,943 (GRCm39) probably benign Het
Ikbke C A 1: 131,201,211 (GRCm39) V176L probably damaging Het
Il13 T C 11: 53,523,351 (GRCm39) T85A possibly damaging Het
Inpp5k A T 11: 75,538,017 (GRCm39) probably null Het
Irgm2 T C 11: 58,111,355 (GRCm39) S361P possibly damaging Het
Itga11 C T 9: 62,639,486 (GRCm39) probably benign Het
Kalrn G T 16: 33,829,632 (GRCm39) probably benign Het
Kcng1 C A 2: 168,110,952 (GRCm39) G71C probably damaging Het
Kcnq5 T A 1: 21,575,573 (GRCm39) D291V probably damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lhx6 C T 2: 35,977,478 (GRCm39) V325I probably benign Het
Lipc A G 9: 70,841,817 (GRCm39) I9T possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mast1 C A 8: 85,648,107 (GRCm39) G458V probably damaging Het
Mga T C 2: 119,794,638 (GRCm39) V2565A possibly damaging Het
Mpzl2 C G 9: 44,955,471 (GRCm39) D127E probably benign Het
Mrtfb T C 16: 13,230,450 (GRCm39) I1045T probably damaging Het
Myh3 T A 11: 66,981,882 (GRCm39) C793S probably benign Het
Nomo1 T C 7: 45,715,928 (GRCm39) L765P probably damaging Het
Nup210 A G 6: 91,005,858 (GRCm39) I1335T possibly damaging Het
Or52b3 T C 7: 102,204,267 (GRCm39) probably null Het
Oxr1 T A 15: 41,683,340 (GRCm39) S254R probably damaging Het
Pan3 A G 5: 147,466,908 (GRCm39) I592V possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pex2 T C 3: 5,626,650 (GRCm39) E53G probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Phactr4 T C 4: 132,098,095 (GRCm39) E391G probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Pkhd1l1 A T 15: 44,376,273 (GRCm39) probably null Het
Pnlip A G 19: 58,664,876 (GRCm39) S235G probably benign Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptprc T C 1: 138,001,419 (GRCm39) Y780C probably damaging Het
Pxn T A 5: 115,690,815 (GRCm39) probably benign Het
Rap1gap2 G A 11: 74,316,802 (GRCm39) T245M probably damaging Het
Rc3h1 G T 1: 160,757,827 (GRCm39) K48N probably damaging Het
Rfwd3 T C 8: 112,009,245 (GRCm39) I444V probably benign Het
Rictor C T 15: 6,794,588 (GRCm39) R293C probably damaging Het
Rif1 T A 2: 52,001,412 (GRCm39) I1622N possibly damaging Het
Rnf213 T C 11: 119,306,019 (GRCm39) V609A probably benign Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Serac1 A T 17: 6,101,060 (GRCm39) I448N probably damaging Het
Sh3kbp1 C A X: 158,607,492 (GRCm39) T200K probably benign Het
Sned1 T A 1: 93,199,406 (GRCm39) F495L probably damaging Het
Socs7 T C 11: 97,263,950 (GRCm39) F281L probably benign Het
Spta1 C T 1: 174,040,180 (GRCm39) L1214F probably benign Het
Ssu72 A G 4: 155,789,900 (GRCm39) E21G probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tmem130 C A 5: 144,680,595 (GRCm39) V270L probably benign Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Tspyl2 A T X: 151,121,890 (GRCm39) D572E probably benign Het
Unc45b G A 11: 82,808,580 (GRCm39) R222H probably benign Het
Uxs1 T C 1: 43,866,783 (GRCm39) Y29C probably damaging Het
Virma T A 4: 11,548,726 (GRCm39) probably benign Het
Vmn1r202 C T 13: 22,685,953 (GRCm39) G155S possibly damaging Het
Vmn2r24 T A 6: 123,755,972 (GRCm39) F15I probably benign Het
Wdr64 A G 1: 175,594,661 (GRCm39) T471A probably benign Het
Zfa-ps T A 10: 52,419,373 (GRCm39) noncoding transcript Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp300 A G X: 20,948,190 (GRCm39) S525P possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G probably damaging Het
Zfp934 T C 13: 62,665,648 (GRCm39) D331G probably damaging Het
Zscan29 T C 2: 121,000,587 (GRCm39) R7G probably damaging Het
Other mutations in Appl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Appl1 APN 14 26,671,433 (GRCm39) missense possibly damaging 0.89
IGL01615:Appl1 APN 14 26,681,427 (GRCm39) splice site probably benign
IGL01633:Appl1 APN 14 26,684,795 (GRCm39) missense probably damaging 0.99
IGL01945:Appl1 APN 14 26,650,612 (GRCm39) missense possibly damaging 0.80
IGL02210:Appl1 APN 14 26,647,909 (GRCm39) splice site probably benign
IGL02650:Appl1 APN 14 26,672,665 (GRCm39) missense possibly damaging 0.76
IGL02674:Appl1 APN 14 26,671,418 (GRCm39) missense possibly damaging 0.86
IGL02803:Appl1 APN 14 26,673,473 (GRCm39) missense possibly damaging 0.93
R0129:Appl1 UTSW 14 26,650,600 (GRCm39) missense probably damaging 1.00
R0183:Appl1 UTSW 14 26,684,811 (GRCm39) missense probably damaging 1.00
R0323:Appl1 UTSW 14 26,664,695 (GRCm39) missense possibly damaging 0.91
R0411:Appl1 UTSW 14 26,662,213 (GRCm39) missense probably benign
R1213:Appl1 UTSW 14 26,665,950 (GRCm39) missense probably benign 0.27
R1277:Appl1 UTSW 14 26,649,813 (GRCm39) missense possibly damaging 0.87
R1668:Appl1 UTSW 14 26,645,811 (GRCm39) missense probably damaging 1.00
R1856:Appl1 UTSW 14 26,649,706 (GRCm39) missense probably damaging 1.00
R1889:Appl1 UTSW 14 26,647,470 (GRCm39) splice site probably benign
R3720:Appl1 UTSW 14 26,649,801 (GRCm39) missense probably damaging 1.00
R3722:Appl1 UTSW 14 26,649,801 (GRCm39) missense probably damaging 1.00
R3917:Appl1 UTSW 14 26,650,561 (GRCm39) missense probably damaging 1.00
R4700:Appl1 UTSW 14 26,647,928 (GRCm39) missense probably benign 0.00
R5139:Appl1 UTSW 14 26,669,112 (GRCm39) missense probably benign 0.04
R5485:Appl1 UTSW 14 26,684,823 (GRCm39) missense probably damaging 1.00
R5536:Appl1 UTSW 14 26,645,737 (GRCm39) nonsense probably null
R5795:Appl1 UTSW 14 26,664,773 (GRCm39) missense probably benign 0.01
R7044:Appl1 UTSW 14 26,650,634 (GRCm39) missense possibly damaging 0.90
R7318:Appl1 UTSW 14 26,685,617 (GRCm39) missense probably benign 0.01
R7447:Appl1 UTSW 14 26,681,409 (GRCm39) nonsense probably null
R7943:Appl1 UTSW 14 26,667,525 (GRCm39) missense probably benign 0.01
R8110:Appl1 UTSW 14 26,649,751 (GRCm39) nonsense probably null
R8129:Appl1 UTSW 14 26,671,466 (GRCm39) missense possibly damaging 0.87
R8160:Appl1 UTSW 14 26,650,592 (GRCm39) missense probably benign 0.35
R8211:Appl1 UTSW 14 26,667,555 (GRCm39) missense probably benign 0.18
R8239:Appl1 UTSW 14 26,686,914 (GRCm39) missense probably damaging 0.99
R8379:Appl1 UTSW 14 26,647,372 (GRCm39) critical splice donor site probably null
R8464:Appl1 UTSW 14 26,674,985 (GRCm39) nonsense probably null
R8699:Appl1 UTSW 14 26,662,212 (GRCm39) missense probably benign
R9023:Appl1 UTSW 14 26,685,652 (GRCm39) missense possibly damaging 0.93
R9090:Appl1 UTSW 14 26,669,084 (GRCm39) missense probably benign 0.01
R9203:Appl1 UTSW 14 26,682,970 (GRCm39) nonsense probably null
R9227:Appl1 UTSW 14 26,645,692 (GRCm39) missense unknown
R9230:Appl1 UTSW 14 26,645,692 (GRCm39) missense unknown
R9243:Appl1 UTSW 14 26,649,710 (GRCm39) missense possibly damaging 0.62
R9271:Appl1 UTSW 14 26,669,084 (GRCm39) missense probably benign 0.01
R9378:Appl1 UTSW 14 26,649,784 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACACAGACACATGTGAAGGC -3'
(R):5'- TCAGCATGCACAAAATCACTTAGAG -3'

Sequencing Primer
(F):5'- CAGACACATGTGAAGGCAATAC -3'
(R):5'- ACAAAATCACTTAGAGTCTGAAAACG -3'
Posted On 2014-10-01