Incidental Mutation 'R5795:Appl1'
ID 447191
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 043386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R5795 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 26640943-26692567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 26664773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 420 (P420Q)
Ref Sequence ENSEMBL: ENSMUSP00000042875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036570]
AlphaFold Q8K3H0
Predicted Effect probably benign
Transcript: ENSMUST00000036570
AA Change: P420Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000042875
Gene: ENSMUSG00000040760
AA Change: P420Q

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,186,688 (GRCm39) V261A probably benign Het
Adipor1 C A 1: 134,352,641 (GRCm39) N137K probably damaging Het
Ahnak A T 19: 8,989,746 (GRCm39) K3677* probably null Het
Ankrd24 C A 10: 81,480,937 (GRCm39) probably benign Het
Bmp8b C A 4: 123,015,761 (GRCm39) F249L possibly damaging Het
Brat1 G T 5: 140,698,827 (GRCm39) A275S probably benign Het
C5ar1 T C 7: 15,982,319 (GRCm39) K234E possibly damaging Het
Cblif A G 19: 11,737,740 (GRCm39) T384A probably damaging Het
Ccs A G 19: 4,883,367 (GRCm39) probably null Het
Chmp5 T G 4: 40,950,562 (GRCm39) probably null Het
Chrna3 T A 9: 54,922,552 (GRCm39) T419S probably benign Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Csf3 G T 11: 98,592,853 (GRCm39) C72F probably damaging Het
Dbndd1 A G 8: 124,236,619 (GRCm39) I83T probably damaging Het
Ercc6 A G 14: 32,248,309 (GRCm39) K287E probably damaging Het
F5 C T 1: 163,979,578 (GRCm39) T16I probably benign Het
Hephl1 C T 9: 14,981,056 (GRCm39) G792E probably damaging Het
Hmmr T A 11: 40,612,733 (GRCm39) D158V probably damaging Het
Hsd11b1 A G 1: 192,922,940 (GRCm39) S76P possibly damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Irf7 G A 7: 140,845,029 (GRCm39) P118L probably damaging Het
Lama1 A G 17: 68,103,722 (GRCm39) N1981S probably benign Het
Lrp4 A G 2: 91,304,816 (GRCm39) D224G probably benign Het
Mink1 T C 11: 70,498,616 (GRCm39) Y594H possibly damaging Het
Minpp1 G A 19: 32,491,557 (GRCm39) V412M probably damaging Het
Muc5b G A 7: 141,425,478 (GRCm39) V4708M possibly damaging Het
Mycl G A 4: 122,890,415 (GRCm39) E34K probably damaging Het
Oaf T A 9: 43,135,241 (GRCm39) D179V probably damaging Het
Ogfod2 G A 5: 124,252,824 (GRCm39) G278D probably damaging Het
Or2h1 A G 17: 37,404,661 (GRCm39) L35P probably damaging Het
Or5b12 A G 19: 12,897,188 (GRCm39) F162L possibly damaging Het
Paf1 T G 7: 28,096,043 (GRCm39) M250R probably damaging Het
Pcdh8 T C 14: 80,008,420 (GRCm39) T48A possibly damaging Het
Pdzph1 A G 17: 59,192,862 (GRCm39) V1096A possibly damaging Het
Polr3b T C 10: 84,512,875 (GRCm39) S586P probably damaging Het
Polr3b A T 10: 84,464,116 (GRCm39) E25D probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,348,475 (GRCm39) M274T possibly damaging Het
Slc31a2 T C 4: 62,215,289 (GRCm39) V112A probably damaging Het
Spire1 A T 18: 67,628,265 (GRCm39) S412T probably benign Het
Tanc1 A G 2: 59,637,926 (GRCm39) T876A possibly damaging Het
Tango6 T A 8: 107,444,709 (GRCm39) L538H probably damaging Het
Tas2r125 G A 6: 132,886,621 (GRCm39) G3D probably damaging Het
Tbc1d32 A T 10: 56,091,158 (GRCm39) M125K possibly damaging Het
Traf5 T C 1: 191,731,807 (GRCm39) S345G probably benign Het
Ush2a A T 1: 188,175,594 (GRCm39) I1231F probably benign Het
Vmn2r104 G T 17: 20,250,372 (GRCm39) T633N probably benign Het
Vmn2r104 A G 17: 20,250,544 (GRCm39) S576P possibly damaging Het
Vmn2r105 A T 17: 20,448,998 (GRCm39) C60S probably benign Het
Zfp316 A T 5: 143,248,594 (GRCm39) D217E unknown Het
Zfp456 A T 13: 67,515,039 (GRCm39) D222E probably benign 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
R2145:Appl1 UTSW 14 26,671,576 (GRCm39) missense possibly damaging 0.66
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
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'- ACCTGCCTCCTTGACCAAAG -3'
(R):5'- AATAGCTAGCTGATTTGGGGTTAAG -3'

Sequencing Primer
(F):5'- TATCCGGAGCAACAAGAG -3'
(R):5'- TGGCCAACTCAGAACTTGTG -3'
Posted On 2016-12-15