Incidental Mutation 'R4702:Ap1m2'
ID 356140
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 041950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R4702 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21206753-21223617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21209591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 362 (F362L)
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 benign
Transcript: ENSMUST00000003397
AA Change: F360L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: F360L

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: ENSMUST00000115433
AA Change: F362L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: F362L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,509 (GRCm39) T390A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Adra1a T C 14: 66,875,008 (GRCm39) probably benign Het
Aff1 T C 5: 103,958,935 (GRCm39) Y343H probably damaging Het
Antxr2 C T 5: 98,097,028 (GRCm39) probably null Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Armc3 A G 2: 19,314,792 (GRCm39) N822S probably damaging Het
Atr A C 9: 95,802,408 (GRCm39) T1767P possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bloc1s1 T A 10: 128,759,267 (GRCm39) Q13L probably damaging Het
Blvra A C 2: 126,933,982 (GRCm39) I125L probably benign Het
Caps2 T C 10: 112,044,252 (GRCm39) F484L probably damaging Het
Cep76 A T 18: 67,767,968 (GRCm39) I188K possibly damaging Het
Cidea T A 18: 67,500,498 (GRCm39) F187I probably benign Het
Cntn3 T A 6: 102,142,292 (GRCm39) N1025I probably benign Het
Cntnap3 A T 13: 64,926,676 (GRCm39) C565S probably benign Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Cyp2d26 C T 15: 82,676,648 (GRCm39) probably benign Het
Cyp2j12 A T 4: 96,021,230 (GRCm39) probably null Het
Dnajb13 T C 7: 100,153,748 (GRCm39) N229S probably benign Het
Dpys A G 15: 39,656,798 (GRCm39) V423A possibly damaging Het
Eif4e1b A T 13: 54,935,138 (GRCm39) I222F probably damaging Het
Eif5b A T 1: 38,057,958 (GRCm39) N87Y unknown Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epha7 T A 4: 28,961,425 (GRCm39) L890Q probably damaging Het
Fancm T A 12: 65,168,826 (GRCm39) S1730T possibly damaging Het
Flrt3 A G 2: 140,503,575 (GRCm39) F18L probably benign Het
Git2 A G 5: 114,883,543 (GRCm39) S396P probably damaging Het
H2-M10.4 A G 17: 36,772,874 (GRCm39) I36T probably benign Het
Igfn1 G A 1: 135,894,947 (GRCm39) S1873L possibly damaging Het
Ints12 A T 3: 132,802,546 (GRCm39) D10V probably damaging Het
Kbtbd2 A G 6: 56,756,288 (GRCm39) S483P probably benign Het
Kcnv2 G C 19: 27,300,967 (GRCm39) A273P probably damaging Het
Klc3 T G 7: 19,129,756 (GRCm39) D371A probably damaging Het
Lama3 T A 18: 12,711,086 (GRCm39) L1567* probably null Het
Ldhal6b G T 17: 5,468,582 (GRCm39) H117Q probably damaging Het
Lrriq1 G T 10: 103,051,610 (GRCm39) Q381K possibly damaging Het
Mrps31 T A 8: 22,909,754 (GRCm39) L140Q probably damaging Het
Myo15b A G 11: 115,774,834 (GRCm39) T2119A probably benign Het
Nkx6-2 T C 7: 139,161,456 (GRCm39) D243G probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Papln C T 12: 83,828,757 (GRCm39) T821I probably benign Het
Pitpnb T G 5: 111,519,218 (GRCm39) V166G probably benign Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plcxd3 C A 15: 4,405,269 (GRCm39) S25R probably benign Het
Ppargc1a T C 5: 51,653,038 (GRCm39) I175V possibly damaging Het
Ppp1r13b T A 12: 111,799,715 (GRCm39) Q687H probably benign Het
Prpf3 A G 3: 95,741,404 (GRCm39) V584A probably damaging Het
Psen2 A G 1: 180,055,289 (GRCm39) L399S probably damaging Het
Ptchd3 G A 11: 121,727,235 (GRCm39) V370I probably damaging Het
Rasa3 G T 8: 13,620,394 (GRCm39) D758E probably benign Het
Reck T C 4: 43,898,060 (GRCm39) C113R probably damaging Het
Resf1 A G 6: 149,230,901 (GRCm39) T1316A probably benign Het
Ric1 T A 19: 29,575,417 (GRCm39) F1009I possibly damaging Het
Rrp12 T C 19: 41,859,975 (GRCm39) N1035S probably damaging Het
Rtel1 T A 2: 180,993,962 (GRCm39) S849T probably benign Het
Scn10a A T 9: 119,462,857 (GRCm39) Y1060N possibly damaging Het
Selenov A G 7: 27,987,436 (GRCm39) L314P probably damaging Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc7a14 T A 3: 31,284,547 (GRCm39) Y263F probably damaging Het
Slco3a1 A G 7: 73,970,315 (GRCm39) S431P probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Spopl A T 2: 23,405,309 (GRCm39) probably null Het
Stk10 A T 11: 32,505,172 (GRCm39) T69S probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tec G A 5: 72,941,074 (GRCm39) P161L possibly damaging Het
Tnip1 A G 11: 54,815,228 (GRCm39) S339P probably benign Het
Tsen34 T A 7: 3,703,632 (GRCm39) V290D probably damaging Het
Tuba1a T A 15: 98,849,563 (GRCm39) I5F possibly damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn1r63 T C 7: 5,806,516 (GRCm39) R39G possibly damaging Het
Xylt2 A G 11: 94,560,355 (GRCm39) Y307H possibly damaging Het
Zfp65 A G 13: 67,872,341 (GRCm39) M1T probably null Het
Zmym4 T C 4: 126,816,958 (GRCm39) I247V 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
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'- ACTTGATTTGAGAGGTGACTTAGC -3'
(R):5'- AGGAACAAGAGTTAGCACCCTTC -3'

Sequencing Primer
(F):5'- TTTGAGAGGTGACTTAGCCAAGAG -3'
(R):5'- AAGAGTTAGCACCCTTCTCTTG -3'
Posted On 2015-10-21