Incidental Mutation 'IGL02533:Ap1m2'
ID 297381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1m2
Ensembl Gene ENSMUSG00000003309
Gene Name adaptor protein complex AP-1, mu 2 subunit
Synonyms D9Ertd818e, mu1B, [m]1B
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL02533
Quality Score
Status
Chromosome 9
Chromosomal Location 21206753-21223617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21207797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 396 (Y396C)
Ref Sequence ENSEMBL: ENSMUSP00000111093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000115433] [ENSMUST00000213762]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003397
AA Change: Y394C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: Y394C

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 damaging
Transcript: ENSMUST00000115433
AA Change: Y396C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: Y396C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 2 141 7.4e-9 PFAM
Pfam:Adap_comp_sub 157 424 4.7e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213483
Predicted Effect probably benign
Transcript: ENSMUST00000213762
Meta Mutation Damage Score 0.9140 question?
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bach2 T C 4: 32,562,451 (GRCm39) V306A probably benign Het
Cnga4 T C 7: 105,057,168 (GRCm39) Y424H probably damaging Het
Cops9 T C 1: 92,567,438 (GRCm39) E79G possibly damaging Het
Crebbp T C 16: 3,925,296 (GRCm39) N769D probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dennd4b A T 3: 90,179,617 (GRCm39) H636L probably benign Het
Dpysl3 T C 18: 43,458,859 (GRCm39) T632A probably benign Het
Gabbr1 C T 17: 37,383,039 (GRCm39) R857C probably damaging Het
Gbp10 A T 5: 105,367,901 (GRCm39) V424D probably damaging Het
Gnptg T C 17: 25,454,429 (GRCm39) E146G possibly damaging Het
Has2 A T 15: 56,545,091 (GRCm39) H170Q probably benign Het
Il22ra1 G A 4: 135,472,034 (GRCm39) G190D possibly damaging Het
Lhcgr T C 17: 89,049,838 (GRCm39) T563A probably benign Het
Mgat4b T A 11: 50,124,379 (GRCm39) F413Y probably damaging Het
Mms22l T A 4: 24,581,099 (GRCm39) probably benign Het
Muc19 C T 15: 91,782,241 (GRCm39) noncoding transcript Het
Ncoa7 A T 10: 30,566,895 (GRCm39) S545R possibly damaging Het
Ncoa7 A C 10: 30,598,781 (GRCm39) D47E probably damaging Het
Nme1 A G 11: 93,850,257 (GRCm39) Y142H possibly damaging Het
Or10j3b A T 1: 173,043,628 (GRCm39) M137L probably damaging Het
Or5h25 T A 16: 58,930,047 (GRCm39) T309S probably benign Het
Or8i2 T A 2: 86,852,697 (GRCm39) S64C probably damaging Het
Per2 A G 1: 91,358,724 (GRCm39) I587T possibly damaging Het
Pias3 A G 3: 96,606,932 (GRCm39) D65G possibly damaging Het
Pramel20 A G 4: 143,297,572 (GRCm39) probably benign Het
Prkacb T C 3: 146,438,451 (GRCm39) I304M possibly damaging Het
Ripor2 G T 13: 24,885,378 (GRCm39) E538* probably null Het
Sart1 G A 19: 5,433,749 (GRCm39) R363* probably null Het
Serpinb3a T G 1: 106,974,892 (GRCm39) I214L probably benign Het
Spon2 C A 5: 33,371,942 (GRCm39) C288F probably damaging Het
Tmprss11a G A 5: 86,562,386 (GRCm39) R320C probably damaging Het
Trpm5 T A 7: 142,643,282 (GRCm39) I22F probably benign Het
Ube3a T C 7: 58,954,580 (GRCm39) F818L probably damaging Het
Vmn1r120 T G 7: 20,787,063 (GRCm39) Q216P probably damaging Het
Vmn2r4 A C 3: 64,305,840 (GRCm39) Y527* probably null Het
Zfp618 A T 4: 63,007,642 (GRCm39) Y125F probably damaging Het
Other mutations in Ap1m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Ap1m2 APN 9 21,210,600 (GRCm39) missense probably benign 0.01
IGL02320:Ap1m2 APN 9 21,210,620 (GRCm39) nonsense probably null
IGL02806:Ap1m2 APN 9 21,216,979 (GRCm39) missense probably damaging 1.00
PIT1430001:Ap1m2 UTSW 9 21,209,548 (GRCm39) missense probably damaging 0.98
R0172:Ap1m2 UTSW 9 21,209,628 (GRCm39) splice site probably null
R0498:Ap1m2 UTSW 9 21,207,129 (GRCm39) makesense probably null
R1272:Ap1m2 UTSW 9 21,217,006 (GRCm39) missense possibly damaging 0.85
R1424:Ap1m2 UTSW 9 21,209,500 (GRCm39) missense possibly damaging 0.95
R1747:Ap1m2 UTSW 9 21,216,982 (GRCm39) missense probably damaging 1.00
R4477:Ap1m2 UTSW 9 21,209,509 (GRCm39) missense probably benign 0.31
R4478:Ap1m2 UTSW 9 21,209,509 (GRCm39) missense probably benign 0.31
R4573:Ap1m2 UTSW 9 21,217,054 (GRCm39) missense probably damaging 1.00
R4702:Ap1m2 UTSW 9 21,209,591 (GRCm39) missense probably benign 0.24
R4860:Ap1m2 UTSW 9 21,220,970 (GRCm39) missense probably benign
R4860:Ap1m2 UTSW 9 21,220,970 (GRCm39) missense probably benign
R5285:Ap1m2 UTSW 9 21,216,933 (GRCm39) nonsense probably null
R6131:Ap1m2 UTSW 9 21,207,797 (GRCm39) missense probably damaging 1.00
R6191:Ap1m2 UTSW 9 21,210,601 (GRCm39) missense probably benign 0.02
R7262:Ap1m2 UTSW 9 21,213,762 (GRCm39) missense possibly damaging 0.49
R9169:Ap1m2 UTSW 9 21,223,523 (GRCm39) missense probably benign 0.04
R9398:Ap1m2 UTSW 9 21,216,935 (GRCm39) missense probably damaging 1.00
R9561:Ap1m2 UTSW 9 21,209,524 (GRCm39) missense probably damaging 1.00
R9664:Ap1m2 UTSW 9 21,216,983 (GRCm39) missense probably benign 0.00
Z1176:Ap1m2 UTSW 9 21,209,552 (GRCm39) nonsense probably null
Posted On 2015-04-16