Incidental Mutation 'R0498:Ap1m2'
ID 40610
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 038694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R0498 (G1)
Quality Score 82
Status Validated
Chromosome 9
Chromosomal Location 21206753-21223617 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 21207129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 426 (*426W)
Ref Sequence ENSEMBL: ENSMUSP00000111093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000086374] [ENSMUST00000115433] [ENSMUST00000213407] [ENSMUST00000213762] [ENSMUST00000215619]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000003397
AA Change: *424W
SMART Domains Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: *424W

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 benign
Transcript: ENSMUST00000086374
SMART Domains Protein: ENSMUSP00000083561
Gene: ENSMUSG00000096472

DomainStartEndE-ValueType
ANK 41 69 1.01e2 SMART
ANK 73 102 1.73e-4 SMART
ANK 106 134 8.89e1 SMART
Blast:ANK 138 166 1e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000115433
AA Change: *426W
SMART Domains Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: *426W

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: ENSMUST00000213407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213483
Predicted Effect probably benign
Transcript: ENSMUST00000213762
Predicted Effect probably benign
Transcript: ENSMUST00000215619
Meta Mutation Damage Score 0.9468 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,718 (GRCm39) D220V probably benign Het
Adgrf2 A G 17: 43,025,206 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,562,716 (GRCm39) V219A probably benign Het
Anapc10 A G 8: 80,501,610 (GRCm39) D126G probably benign Het
Arhgap21 A G 2: 20,867,928 (GRCm39) I865T probably damaging Het
Armc8 A G 9: 99,379,345 (GRCm39) V527A probably damaging Het
Asic5 A T 3: 81,913,778 (GRCm39) probably benign Het
Baz2b A C 2: 59,732,340 (GRCm39) probably benign Het
Bpifa5 T C 2: 154,009,169 (GRCm39) V237A probably damaging Het
Brip1 T A 11: 86,088,745 (GRCm39) K52I possibly damaging Het
Cacna1g T C 11: 94,350,685 (GRCm39) I387V probably damaging Het
Cbr4 A G 8: 61,948,107 (GRCm39) I135V probably benign Het
Ccdc66 C T 14: 27,222,197 (GRCm39) probably null Het
Cubn G A 2: 13,449,078 (GRCm39) T999M probably damaging Het
Dnai3 G T 3: 145,787,119 (GRCm39) D305E possibly damaging Het
Dpp8 C T 9: 64,953,077 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,390 (GRCm39) S966P possibly damaging Het
Erp27 T C 6: 136,896,862 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,786 (GRCm39) I2813L probably benign Het
Fhod1 G A 8: 106,056,488 (GRCm39) R1101C probably damaging Het
Hoxc9 T C 15: 102,892,359 (GRCm39) S191P probably damaging Het
Izumo4 T C 10: 80,540,030 (GRCm39) probably null Het
Kalrn C T 16: 33,875,261 (GRCm39) D104N possibly damaging Het
Kank4 A T 4: 98,667,873 (GRCm39) D191E probably benign Het
Kbtbd11 A G 8: 15,077,605 (GRCm39) E68G probably benign Het
Kdr C T 5: 76,119,798 (GRCm39) V654I probably benign Het
Klra1 A T 6: 130,349,782 (GRCm39) probably null Het
Kmt2e T A 5: 23,683,970 (GRCm39) Y373* probably null Het
Lepr A T 4: 101,602,889 (GRCm39) M226L probably benign Het
Lrp1b T A 2: 41,348,417 (GRCm39) I800F probably benign Het
Lta4h T C 10: 93,307,833 (GRCm39) probably benign Het
Map3k7 T C 4: 31,974,814 (GRCm39) probably benign Het
Map4k4 G A 1: 40,029,338 (GRCm39) R371Q probably benign Het
Mgat4f A G 1: 134,318,610 (GRCm39) I461V possibly damaging Het
Mme A G 3: 63,253,487 (GRCm39) I444V probably damaging Het
Mms19 C T 19: 41,938,212 (GRCm39) R582Q possibly damaging Het
Mtss1 A G 15: 58,817,286 (GRCm39) S502P probably damaging Het
Myo3a G T 2: 22,467,441 (GRCm39) A232S possibly damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or4k15 A C 14: 50,364,750 (GRCm39) T239P probably damaging Het
Or8b12 G A 9: 37,657,550 (GRCm39) G40E probably damaging Het
Pcm1 G A 8: 41,746,806 (GRCm39) S1335N probably benign Het
Pdzph1 A G 17: 59,280,825 (GRCm39) F486L probably benign Het
Piezo2 T C 18: 63,235,245 (GRCm39) K552R possibly damaging Het
Plekhs1 T A 19: 56,469,536 (GRCm39) probably null Het
Pprc1 C T 19: 46,060,007 (GRCm39) Q1514* probably null Het
Ralgapa1 T C 12: 55,736,576 (GRCm39) T1831A possibly damaging Het
Rnpep G T 1: 135,193,090 (GRCm39) D455E probably damaging Het
Rpgrip1 T A 14: 52,368,771 (GRCm39) probably benign Het
Saxo1 A T 4: 86,397,133 (GRCm39) M135K possibly damaging Het
Serpina12 T C 12: 104,002,048 (GRCm39) T223A probably damaging Het
Serpinb3a A G 1: 106,974,880 (GRCm39) F218L probably damaging Het
Serpinb9f T G 13: 33,509,990 (GRCm39) probably benign Het
Spata33 A G 8: 123,948,662 (GRCm39) D98G probably benign Het
Stard13 T A 5: 150,975,942 (GRCm39) Y742F probably damaging Het
Tecta A G 9: 42,288,910 (GRCm39) Y552H probably damaging Het
Tie1 A T 4: 118,336,358 (GRCm39) probably benign Het
Tmem161a A G 8: 70,633,623 (GRCm39) T254A probably benign Het
Tmem30a G T 9: 79,681,376 (GRCm39) Y264* probably null Het
Tmem87a A T 2: 120,224,946 (GRCm39) I105K probably benign Het
Tnrc6b A T 15: 80,742,920 (GRCm39) D51V probably damaging Het
Trgc3 T A 13: 19,445,262 (GRCm39) M70K probably damaging Het
Trpc4 T C 3: 54,198,632 (GRCm39) F519L probably damaging Het
Ttn T C 2: 76,539,925 (GRCm39) T26027A probably damaging Het
Vmn1r198 A C 13: 22,539,144 (GRCm39) H121P probably damaging Het
Vps33a A G 5: 123,709,024 (GRCm39) F64L probably benign Het
Zfp1008 T C 13: 62,755,201 (GRCm39) N39S probably damaging Het
Zfp994 A T 17: 22,419,882 (GRCm39) C356S 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCAGTTTACTGCAAGAAGGCAC -3'
(R):5'- GCTGACACTTAGCACCTCCAGATG -3'

Sequencing Primer
(F):5'- AGCAGAGTTCAGGCCCTC -3'
(R):5'- tgccatccagccacatc -3'
Posted On 2013-05-23