Incidental Mutation 'IGL02320:Ap1m2'
ID288210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1m2
Ensembl Gene ENSMUSG00000003309
Gene Nameadaptor protein complex AP-1, mu 2 subunit
SynonymsD9Ertd818e, [m]1B, mu1B
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #IGL02320
Quality Score
Status
Chromosome9
Chromosomal Location21294275-21312337 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 21299324 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 336 (Y336*)
Ref Sequence ENSEMBL: ENSMUSP00000111093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000115433] [ENSMUST00000213250] [ENSMUST00000213762]
Predicted Effect probably null
Transcript: ENSMUST00000003397
AA Change: Y334*
SMART Domains Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: Y334*

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 7.3e-9 PFAM
Pfam:Adap_comp_sub 157 422 7.3e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115433
AA Change: Y336*
SMART Domains Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: Y336*

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 7.4e-9 PFAM
Pfam:Adap_comp_sub 157 424 4.7e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213483
Predicted Effect probably benign
Transcript: ENSMUST00000213762
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,574,112 S146P probably damaging Het
Arap1 T C 7: 101,385,029 L226P probably benign Het
Cacna1c T A 6: 118,637,792 N1150Y probably damaging Het
Ccsap G T 8: 123,842,438 H221Q probably damaging Het
Ceacam3 T A 7: 17,161,940 Y612N probably benign Het
Col12a1 A G 9: 79,616,021 probably null Het
Ddx23 T C 15: 98,650,938 T328A possibly damaging Het
Depdc1a T A 3: 159,516,933 M252K probably damaging Het
Dpcr1 A T 17: 35,637,440 N422K probably benign Het
Fam57a A G 11: 76,205,405 M120V probably damaging Het
Fpr2 A C 17: 17,893,346 R201S probably benign Het
Ighv1-20 A G 12: 114,723,843 S94P probably damaging Het
Itgb7 A C 15: 102,224,337 V180G probably benign Het
Mmp13 G T 9: 7,278,941 R344L probably benign Het
Ncam2 C T 16: 81,434,837 S63L probably damaging Het
Olfr472 C T 7: 107,902,831 T38I possibly damaging Het
Pde9a G A 17: 31,459,085 C187Y probably damaging Het
Sh2b1 A G 7: 126,469,169 L490P probably benign Het
Shank2 A G 7: 144,420,944 T1193A probably damaging Het
Shisa2 T A 14: 59,629,797 M166K probably damaging Het
Smg7 A T 1: 152,868,337 S40T possibly damaging Het
Spef2 A C 15: 9,717,576 S285A probably damaging Het
Tcrg-V7 C A 13: 19,178,079 P13Q unknown Het
Ttn A G 2: 76,939,312 probably benign Het
Tyw5 A G 1: 57,396,725 probably null Het
Vars2 A G 17: 35,660,454 V212A probably benign Het
Vmn2r1 T C 3: 64,081,759 S40P possibly damaging Het
Wwc2 A G 8: 47,863,847 probably null Het
Zbed6 T C 1: 133,657,673 N642S probably damaging Het
Zfp423 A T 8: 87,781,602 C580S probably damaging Het
Zfp64 A G 2: 168,926,198 V498A probably damaging Het
Other mutations in Ap1m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Ap1m2 APN 9 21299304 missense probably benign 0.01
IGL02533:Ap1m2 APN 9 21296501 missense probably damaging 1.00
IGL02806:Ap1m2 APN 9 21305683 missense probably damaging 1.00
PIT1430001:Ap1m2 UTSW 9 21298252 missense probably damaging 0.98
R0172:Ap1m2 UTSW 9 21298332 splice site probably null
R0498:Ap1m2 UTSW 9 21295833 makesense probably null
R1272:Ap1m2 UTSW 9 21305710 missense possibly damaging 0.85
R1424:Ap1m2 UTSW 9 21298204 missense possibly damaging 0.95
R1747:Ap1m2 UTSW 9 21305686 missense probably damaging 1.00
R4477:Ap1m2 UTSW 9 21298213 missense probably benign 0.31
R4478:Ap1m2 UTSW 9 21298213 missense probably benign 0.31
R4573:Ap1m2 UTSW 9 21305758 missense probably damaging 1.00
R4702:Ap1m2 UTSW 9 21298295 missense probably benign 0.24
R4860:Ap1m2 UTSW 9 21309674 missense probably benign
R4860:Ap1m2 UTSW 9 21309674 missense probably benign
R5285:Ap1m2 UTSW 9 21305637 nonsense probably null
R6131:Ap1m2 UTSW 9 21296501 missense probably damaging 1.00
R6191:Ap1m2 UTSW 9 21299305 missense probably benign 0.02
R7262:Ap1m2 UTSW 9 21302466 missense possibly damaging 0.49
Z1176:Ap1m2 UTSW 9 21298256 nonsense probably null
Posted On2015-04-16