Incidental Mutation 'R7266:Ap2m1'
ID 564960
Institutional Source Beutler Lab
Gene Symbol Ap2m1
Ensembl Gene ENSMUSG00000022841
Gene Name adaptor-related protein complex 2, mu 1 subunit
Synonyms clathrin-associated AP-2
MMRRC Submission 045389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 20354230-20363659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20362095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 401 (Y401C)
Ref Sequence ENSEMBL: ENSMUSP00000087477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007216] [ENSMUST00000090023] [ENSMUST00000126788] [ENSMUST00000232001]
AlphaFold P84091
Predicted Effect probably damaging
Transcript: ENSMUST00000007216
AA Change: Y403C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007216
Gene: ENSMUSG00000022841
AA Change: Y403C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 137 6.7e-8 PFAM
Pfam:Adap_comp_sub 159 435 3.2e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000090023
AA Change: Y401C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087477
Gene: ENSMUSG00000022841
AA Change: Y401C

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 137 4.2e-8 PFAM
Pfam:Adap_comp_sub 157 433 8.7e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126788
Predicted Effect probably benign
Transcript: ENSMUST00000232001
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the mu subunit of the clathrin adaptor protein complex AP-2. It mediates sorting of cargo proteins harboring Y-X-X-Phi motifs into clathrin-coated vesicles. Alternate splicing of this gene results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2, 8 and 19. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted deletion display embryonic lethality before implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,157,639 (GRCm39) I104F probably benign Het
Adgrg7 C T 16: 56,590,674 (GRCm39) V166I probably benign Het
Agfg1 G T 1: 82,859,966 (GRCm39) V278L probably benign Het
Alpk3 A G 7: 80,742,328 (GRCm39) E715G possibly damaging Het
Arhgef28 C T 13: 98,101,960 (GRCm39) S838N probably benign Het
Ash2l A T 8: 26,317,233 (GRCm39) Y373* probably null Het
Best2 C T 8: 85,734,393 (GRCm39) V442I probably benign Het
Col4a2 T C 8: 11,475,542 (GRCm39) probably null Het
Fat2 T A 11: 55,175,856 (GRCm39) D1619V probably damaging Het
Fer1l6 A T 15: 58,499,446 (GRCm39) N1272I probably benign Het
Gcc1 T A 6: 28,417,995 (GRCm39) *779C probably null Het
Gm12216 G A 11: 53,750,077 (GRCm39) probably benign Het
Grm2 C T 9: 106,524,370 (GRCm39) V311I Het
Immt T A 6: 71,851,689 (GRCm39) D683E probably benign Het
Itga8 T G 2: 12,237,712 (GRCm39) D336A probably damaging Het
Jhy T C 9: 40,872,453 (GRCm39) T19A probably benign Het
Kcnq2 T C 2: 180,776,885 (GRCm39) M1V probably null Het
Kctd17 A T 15: 78,317,214 (GRCm39) I117F probably damaging Het
Lrp6 T C 6: 134,484,364 (GRCm39) T420A probably damaging Het
Manba T C 3: 135,223,673 (GRCm39) S187P probably damaging Het
Mef2b A T 8: 70,616,938 (GRCm39) D13V probably damaging Het
Mical2 T C 7: 111,902,963 (GRCm39) F145L probably damaging Het
Mphosph8 T A 14: 56,922,497 (GRCm39) D551E possibly damaging Het
Mplkipl1 A G 19: 61,163,973 (GRCm39) V154A possibly damaging Het
Myo10 C G 15: 25,783,067 (GRCm39) R1170G probably damaging Het
Myo16 A C 8: 10,322,687 (GRCm39) Q39P unknown Het
Myo1f A G 17: 33,820,668 (GRCm39) E837G probably benign Het
Nell2 T A 15: 95,333,274 (GRCm39) I128F possibly damaging Het
Or1i2 A G 10: 78,448,448 (GRCm39) V9A probably benign Het
Pcdh15 A T 10: 74,215,222 (GRCm39) R659* probably null Het
Pcdhga1 A G 18: 37,973,028 (GRCm39) Q881R possibly damaging Het
Plekhm2 T G 4: 141,369,770 (GRCm39) E75A possibly damaging Het
Prc1 A G 7: 79,957,405 (GRCm39) K357E possibly damaging Het
Pxk T A 14: 8,146,220 (GRCm38) C377S probably benign Het
Ralgapa2 T C 2: 146,176,488 (GRCm39) E1696G probably damaging Het
Rbbp6 T A 7: 122,600,590 (GRCm39) S1532R unknown Het
Scn5a G T 9: 119,391,626 (GRCm39) A22E probably benign Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Siae T C 9: 37,534,309 (GRCm39) V115A probably damaging Het
Slc16a6 A G 11: 109,344,107 (GRCm39) C563R probably benign Het
Sntg1 A C 1: 8,752,243 (GRCm39) V58G possibly damaging Het
Snx11 C T 11: 96,663,985 (GRCm39) V36M probably damaging Het
Stk3 C A 15: 34,959,182 (GRCm39) S330I probably benign Het
Synpo A G 18: 60,762,631 (GRCm39) F92S probably benign Het
Tle1 A G 4: 72,057,924 (GRCm39) probably null Het
Tmem117 A G 15: 94,829,684 (GRCm39) D173G possibly damaging Het
Tmem217b C A 17: 29,738,347 (GRCm39) V140L probably benign Het
Tmprss5 T C 9: 49,025,841 (GRCm39) W338R probably benign Het
Tnfrsf19 T C 14: 61,212,147 (GRCm39) T168A possibly damaging Het
Trhde C T 10: 114,636,776 (GRCm39) G144S possibly damaging Het
Trim56 G T 5: 137,143,097 (GRCm39) Q140K probably damaging Het
Ttn C T 2: 76,562,918 (GRCm39) V28679M probably damaging Het
Ubxn8 G A 8: 34,113,231 (GRCm39) R208C probably damaging Het
Vmn2r72 G T 7: 85,387,482 (GRCm39) S694* probably null Het
Wdr38 T A 2: 38,890,276 (GRCm39) W137R probably damaging Het
Zdhhc6 G T 19: 55,292,932 (GRCm39) N271K probably damaging Het
Zfyve9 A G 4: 108,575,744 (GRCm39) S446P possibly damaging Het
Zmynd8 T C 2: 165,649,492 (GRCm39) Q867R possibly damaging Het
Zswim3 T C 2: 164,662,402 (GRCm39) I294T probably benign Het
Other mutations in Ap2m1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Ap2m1 APN 16 20,360,944 (GRCm39) unclassified probably benign
R0110:Ap2m1 UTSW 16 20,360,990 (GRCm39) missense possibly damaging 0.67
R0390:Ap2m1 UTSW 16 20,359,849 (GRCm39) missense probably damaging 0.98
R0450:Ap2m1 UTSW 16 20,360,990 (GRCm39) missense possibly damaging 0.67
R0510:Ap2m1 UTSW 16 20,360,990 (GRCm39) missense possibly damaging 0.67
R1386:Ap2m1 UTSW 16 20,359,979 (GRCm39) missense probably damaging 1.00
R1505:Ap2m1 UTSW 16 20,361,447 (GRCm39) missense probably benign
R1728:Ap2m1 UTSW 16 20,358,088 (GRCm39) missense probably damaging 0.99
R1729:Ap2m1 UTSW 16 20,358,088 (GRCm39) missense probably damaging 0.99
R4433:Ap2m1 UTSW 16 20,362,134 (GRCm39) missense possibly damaging 0.55
R5773:Ap2m1 UTSW 16 20,362,140 (GRCm39) missense probably damaging 0.96
R6953:Ap2m1 UTSW 16 20,361,468 (GRCm39) missense probably damaging 0.96
R7226:Ap2m1 UTSW 16 20,358,201 (GRCm39) missense probably damaging 0.99
R7735:Ap2m1 UTSW 16 20,358,269 (GRCm39) missense probably benign 0.01
R9571:Ap2m1 UTSW 16 20,360,037 (GRCm39) missense probably damaging 1.00
R9777:Ap2m1 UTSW 16 20,358,113 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCTCACAACTGGGCTCAG -3'
(R):5'- TGAGTGGTCACTAGGGGTAC -3'

Sequencing Primer
(F):5'- ACAACTGGGCTCAGCTTCAGATG -3'
(R):5'- TCACTAGGGGTACTTGGACC -3'
Posted On 2019-06-26