Incidental Mutation 'IGL02045:Ap1ar'
ID 184899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1ar
Ensembl Gene ENSMUSG00000074238
Gene Name adaptor-related protein complex 1 associated regulatory protein
Synonyms Gadkin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02045
Quality Score
Status
Chromosome 3
Chromosomal Location 127600656-127631148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127609298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 108 (Y108N)
Ref Sequence ENSEMBL: ENSMUSP00000059669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051737] [ENSMUST00000200409]
AlphaFold E9PYF7
Predicted Effect probably damaging
Transcript: ENSMUST00000051737
AA Change: Y108N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059669
Gene: ENSMUSG00000074238
AA Change: Y108N

DomainStartEndE-ValueType
Pfam:AP1AR 24 298 3.5e-152 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199901
Predicted Effect probably benign
Transcript: ENSMUST00000200409
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,378,721 (GRCm39) H2044Q possibly damaging Het
Ankrd12 A T 17: 66,293,244 (GRCm39) S730T probably benign Het
Ano9 A T 7: 140,682,382 (GRCm39) N655K probably benign Het
Asap3 A G 4: 135,954,752 (GRCm39) I55V probably benign Het
Barx2 T C 9: 31,770,094 (GRCm39) T145A probably damaging Het
Camta1 T C 4: 151,158,442 (GRCm39) probably null Het
Ces2e C T 8: 105,657,290 (GRCm39) probably benign Het
Cflar T C 1: 58,791,903 (GRCm39) I405T probably benign Het
Cibar2 T A 8: 120,896,461 (GRCm39) K174* probably null Het
Cyp51 A G 5: 4,133,247 (GRCm39) S464P probably damaging Het
Ermard G A 17: 15,271,826 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,707,841 (GRCm39) T49A probably benign Het
Gls A G 1: 52,258,674 (GRCm39) V198A probably benign Het
Heatr5b A T 17: 79,115,855 (GRCm39) I867N probably damaging Het
Ighv1-14 A T 12: 114,610,334 (GRCm39) noncoding transcript Het
Iqsec1 T C 6: 90,641,051 (GRCm39) K1022E probably damaging Het
Myo10 A G 15: 25,726,574 (GRCm39) T299A probably benign Het
Nr2e3 A T 9: 59,856,291 (GRCm39) M82K probably benign Het
Ntpcr A G 8: 126,472,191 (GRCm39) probably benign Het
Or1e26 A G 11: 73,480,058 (GRCm39) C169R probably damaging Het
Or4d10b T C 19: 12,036,253 (GRCm39) T288A possibly damaging Het
Or52s6 A G 7: 103,092,159 (GRCm39) L57P probably damaging Het
Or5p80 A G 7: 108,229,739 (GRCm39) D180G probably damaging Het
Or6c70 A T 10: 129,710,091 (GRCm39) D178E probably benign Het
Prkcb A G 7: 122,189,390 (GRCm39) D506G probably damaging Het
Rasgef1a A G 6: 118,066,404 (GRCm39) I470V probably benign Het
Rbm27 A G 18: 42,452,978 (GRCm39) E514G possibly damaging Het
Rgs22 G A 15: 36,013,300 (GRCm39) A1048V probably benign Het
Secisbp2l A G 2: 125,617,498 (GRCm39) F60L possibly damaging Het
Six4 T C 12: 73,155,429 (GRCm39) S505G probably benign Het
Skint1 T A 4: 111,882,727 (GRCm39) V257E possibly damaging Het
Smad9 A G 3: 54,693,593 (GRCm39) N174S possibly damaging Het
Smc2 A G 4: 52,462,914 (GRCm39) N635D probably benign Het
Stradb T A 1: 59,028,937 (GRCm39) I135N probably damaging Het
Syt12 T C 19: 4,497,762 (GRCm39) T407A probably damaging Het
Tmc8 T A 11: 117,677,346 (GRCm39) I322N probably damaging Het
Tnip1 A C 11: 54,802,365 (GRCm39) *648G probably null Het
Ttc3 T C 16: 94,210,540 (GRCm39) probably benign Het
Other mutations in Ap1ar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ap1ar APN 3 127,614,401 (GRCm39) splice site probably benign
IGL00337:Ap1ar APN 3 127,614,400 (GRCm39) splice site probably benign
IGL02887:Ap1ar APN 3 127,602,192 (GRCm39) missense probably damaging 1.00
mantapsan UTSW 3 127,606,177 (GRCm39) splice site probably null
R1468:Ap1ar UTSW 3 127,606,215 (GRCm39) missense probably benign 0.00
R1468:Ap1ar UTSW 3 127,606,215 (GRCm39) missense probably benign 0.00
R6166:Ap1ar UTSW 3 127,606,177 (GRCm39) splice site probably null
R6732:Ap1ar UTSW 3 127,609,334 (GRCm39) nonsense probably null
R8354:Ap1ar UTSW 3 127,606,428 (GRCm39) splice site probably null
R9534:Ap1ar UTSW 3 127,602,364 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07