Incidental Mutation 'IGL02045:Ap1ar'
ID184899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1ar
Ensembl Gene ENSMUSG00000074238
Gene Nameadaptor-related protein complex 1 associated regulatory protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02045
Quality Score
Status
Chromosome3
Chromosomal Location127807007-127837523 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127815649 bp
ZygosityHeterozygous
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]
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: 114,240,660 H2044Q possibly damaging Het
Ankrd12 A T 17: 65,986,249 S730T probably benign Het
Ano9 A T 7: 141,102,469 N655K probably benign Het
Asap3 A G 4: 136,227,441 I55V probably benign Het
Barx2 T C 9: 31,858,798 T145A probably damaging Het
Camta1 T C 4: 151,073,985 probably null Het
Ces2e C T 8: 104,930,658 probably benign Het
Cflar T C 1: 58,752,744 I405T probably benign Het
Cyp51 A G 5: 4,083,247 S464P probably damaging Het
Ermard G A 17: 15,051,564 probably benign Het
Fam92b T A 8: 120,169,722 K174* probably null Het
Glb1l2 T C 9: 26,796,545 T49A probably benign Het
Gls A G 1: 52,219,515 V198A probably benign Het
Heatr5b A T 17: 78,808,426 I867N probably damaging Het
Ighv1-14 A T 12: 114,646,714 noncoding transcript Het
Iqsec1 T C 6: 90,664,069 K1022E probably damaging Het
Myo10 A G 15: 25,726,488 T299A probably benign Het
Nr2e3 A T 9: 59,949,008 M82K probably benign Het
Ntpcr A G 8: 125,745,452 probably benign Het
Olfr1424 T C 19: 12,058,889 T288A possibly damaging Het
Olfr385 A G 11: 73,589,232 C169R probably damaging Het
Olfr508 A G 7: 108,630,532 D180G probably damaging Het
Olfr605 A G 7: 103,442,952 L57P probably damaging Het
Olfr814 A T 10: 129,874,222 D178E probably benign Het
Prkcb A G 7: 122,590,167 D506G probably damaging Het
Rasgef1a A G 6: 118,089,443 I470V probably benign Het
Rbm27 A G 18: 42,319,913 E514G possibly damaging Het
Rgs22 G A 15: 36,013,154 A1048V probably benign Het
Secisbp2l A G 2: 125,775,578 F60L possibly damaging Het
Six4 T C 12: 73,108,655 S505G probably benign Het
Skint1 T A 4: 112,025,530 V257E possibly damaging Het
Smad9 A G 3: 54,786,172 N174S possibly damaging Het
Smc2 A G 4: 52,462,914 N635D probably benign Het
Stradb T A 1: 58,989,778 I135N probably damaging Het
Syt12 T C 19: 4,447,734 T407A probably damaging Het
Tmc8 T A 11: 117,786,520 I322N probably damaging Het
Tnip1 A C 11: 54,911,539 *648G probably null Het
Ttc3 T C 16: 94,409,681 probably benign Het
Other mutations in Ap1ar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ap1ar APN 3 127820751 splice site probably benign
IGL00337:Ap1ar APN 3 127820752 splice site probably benign
IGL02887:Ap1ar APN 3 127808543 missense probably damaging 1.00
mantapsan UTSW 3 127812528 splice site probably null
R1468:Ap1ar UTSW 3 127812566 missense probably benign 0.00
R1468:Ap1ar UTSW 3 127812566 missense probably benign 0.00
R6166:Ap1ar UTSW 3 127812528 splice site probably null
R6732:Ap1ar UTSW 3 127815685 nonsense probably null
Posted On2014-05-07