Incidental Mutation 'R9561:Ap1m2'
ID 721013
Institutional Source Beutler Lab
Gene Symbol Ap1m2
Ensembl Gene ENSMUSG00000003309
Gene Name adaptor protein complex AP-1, mu 2 subunit
Synonyms D9Ertd818e, mu1B, [m]1B
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R9561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 21206753-21223617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21209524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 384 (I384N)
Ref Sequence ENSEMBL: ENSMUSP00000111093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000115433] [ENSMUST00000213250] [ENSMUST00000213762]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003397
AA Change: I382N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: I382N

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: I384N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: I384N

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 probably benign
Transcript: ENSMUST00000213762
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,680,980 (GRCm39) I106V possibly damaging Het
Aars1 C A 8: 111,763,615 (GRCm39) F18L probably damaging Het
Abca7 C T 10: 79,837,535 (GRCm39) T473I probably damaging Het
Atg16l2 G A 7: 100,948,248 (GRCm39) Q99* probably null Het
Bptf A T 11: 106,964,954 (GRCm39) Y1413* probably null Het
Cat T C 2: 103,307,250 (GRCm39) T28A probably damaging Het
Ccdc65 T A 15: 98,620,759 (GRCm39) V418D probably benign Het
Cd226 A C 18: 89,265,444 (GRCm39) I241L probably benign Het
Crybg1 A G 10: 43,873,428 (GRCm39) S1227P probably benign Het
Csn2 C T 5: 87,842,794 (GRCm39) A78T probably benign Het
Cyp21a1 T A 17: 35,021,652 (GRCm39) H305L possibly damaging Het
Ddx55 A G 5: 124,706,707 (GRCm39) E572G possibly damaging Het
Dguok A G 6: 83,467,548 (GRCm39) Y100H probably damaging Het
Dync1h1 T A 12: 110,615,533 (GRCm39) S2955R probably damaging Het
Etfbkmt A T 6: 149,045,640 (GRCm39) probably benign Het
Fam222a T A 5: 114,749,347 (GRCm39) I181N probably damaging Het
Fam24b T C 7: 130,927,877 (GRCm39) D104G probably benign Het
Fbn2 A T 18: 58,181,611 (GRCm39) C1883* probably null Het
Fchsd2 T G 7: 100,920,778 (GRCm39) L461R probably benign Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Hectd4 G A 5: 121,472,532 (GRCm39) R2756Q possibly damaging Het
Ints14 A G 9: 64,882,932 (GRCm39) D261G probably damaging Het
Mapkapk5 C T 5: 121,672,490 (GRCm39) A163T probably benign Het
Micu3 A T 8: 40,835,156 (GRCm39) K504* probably null Het
Myh1 C G 11: 67,108,618 (GRCm39) H1345D possibly damaging Het
Myh7 C A 14: 55,216,146 (GRCm39) R1289L probably damaging Het
Neb G T 2: 52,132,068 (GRCm39) H280Q Het
Nrbp1 T A 5: 31,404,771 (GRCm39) probably null Het
Oacyl T A 18: 65,831,414 (GRCm39) V17D possibly damaging Het
Obsl1 C A 1: 75,480,157 (GRCm39) R463L possibly damaging Het
Or1f19 T A 16: 3,410,725 (GRCm39) L155Q probably damaging Het
Or8b40 G A 9: 38,028,010 (GRCm39) S311N probably benign Het
Pcnt A T 10: 76,217,128 (GRCm39) C2184* probably null Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Phrf1 T G 7: 140,834,815 (GRCm39) S198A unknown Het
Plekhg2 C G 7: 28,064,249 (GRCm39) A431P probably damaging Het
Ppp1r13b C T 12: 111,810,077 (GRCm39) D244N probably damaging Het
Raph1 T C 1: 60,564,887 (GRCm39) E200G possibly damaging Het
Rnf6 A G 5: 146,147,936 (GRCm39) S361P probably benign Het
Scgb2b19 G A 7: 32,978,039 (GRCm39) A86V probably benign Het
Sec23b T A 2: 144,408,728 (GRCm39) C138S possibly damaging Het
Slco1c1 T C 6: 141,505,606 (GRCm39) S511P possibly damaging Het
Tas2r130 A G 6: 131,607,175 (GRCm39) S207P probably damaging Het
Tdpoz1 A T 3: 93,578,540 (GRCm39) H81Q probably benign Het
Usp8 A G 2: 126,578,414 (GRCm39) K289E probably damaging Het
Vmn1r18 A C 6: 57,367,202 (GRCm39) N117K probably benign Het
Vps13c G T 9: 67,872,794 (GRCm39) G3270V probably damaging Het
Wdr20 A G 12: 110,760,187 (GRCm39) T358A probably benign Het
Wwc1 A C 11: 35,870,796 (GRCm39) probably null Het
Yars2 G T 16: 16,127,242 (GRCm39) V436L possibly damaging Het
Zfp609 G A 9: 65,604,512 (GRCm39) Q1324* probably null Het
Zfp81 T C 17: 33,553,774 (GRCm39) T347A probably benign Het
Zgpat T C 2: 181,021,366 (GRCm39) V292A probably benign 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
IGL02533:Ap1m2 APN 9 21,207,797 (GRCm39) missense probably damaging 1.00
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
R9664:Ap1m2 UTSW 9 21,216,983 (GRCm39) missense probably benign 0.00
Z1176:Ap1m2 UTSW 9 21,209,552 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAAAGTCAAGAGTGCTGGC -3'
(R):5'- ACAGGTAACGCTGCAGTGAG -3'

Sequencing Primer
(F):5'- AGAAGGGTGCTCTCAGCTCTAG -3'
(R):5'- TAACGCTGCAGTGAGGGTGG -3'
Posted On 2022-08-09