Incidental Mutation 'R6725:Ap3s2'
ID 529822
Institutional Source Beutler Lab
Gene Symbol Ap3s2
Ensembl Gene ENSMUSG00000063801
Gene Name adaptor-related protein complex 3, sigma 2 subunit
Synonyms sigma 3B, [s]3B
MMRRC Submission 044843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6725 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79525073-79570388 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 79570390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048731] [ENSMUST00000075657] [ENSMUST00000206725]
AlphaFold Q8BSZ2
Predicted Effect probably benign
Transcript: ENSMUST00000048731
SMART Domains Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043

DomainStartEndE-ValueType
Pfam:UPF0552 1 224 4e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075657
SMART Domains Protein: ENSMUSP00000075082
Gene: ENSMUSG00000063801

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 148 9.5e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206403
Predicted Effect probably benign
Transcript: ENSMUST00000206725
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,469,833 (GRCm39) Y623C probably damaging Het
Adgrv1 T C 13: 81,585,676 (GRCm39) E4596G probably damaging Het
Adgrv1 A T 13: 81,641,329 (GRCm39) C3267S probably damaging Het
Ankrd40 T G 11: 94,225,641 (GRCm39) V224G probably benign Het
Apip T A 2: 102,922,870 (GRCm39) D229E possibly damaging Het
Atp2b4 C T 1: 133,634,725 (GRCm39) R1168H probably benign Het
Bcan T C 3: 87,902,791 (GRCm39) K329R possibly damaging Het
Camk1g T C 1: 193,032,628 (GRCm39) D261G possibly damaging Het
Ccdc30 T A 4: 119,188,796 (GRCm39) Q490L probably damaging Het
Ccdc83 A G 7: 89,896,261 (GRCm39) W103R probably damaging Het
Ctsl T A 13: 64,514,437 (GRCm39) R69* probably null Het
Dchs1 C T 7: 105,408,000 (GRCm39) R1944H probably damaging Het
Fgb T C 3: 82,951,098 (GRCm39) Y305C probably damaging Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Gal3st2 T A 1: 93,801,424 (GRCm39) S27T probably benign Het
Galnt13 A G 2: 54,745,244 (GRCm39) D228G probably damaging Het
Gk5 A T 9: 96,037,523 (GRCm39) T346S probably benign Het
Gnrhr T C 5: 86,333,172 (GRCm39) I233V probably damaging Het
Greb1 T C 12: 16,738,568 (GRCm39) Y1465C probably damaging Het
H6pd A G 4: 150,080,815 (GRCm39) L10P probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Ighv7-4 A T 12: 114,186,489 (GRCm39) D94E probably damaging Het
Lamb3 T C 1: 192,986,890 (GRCm39) Y59H probably benign Het
Msantd1 C T 5: 35,078,765 (GRCm39) T100I probably damaging Het
Msx3 T A 7: 139,628,659 (GRCm39) probably benign Het
Mttp C A 3: 137,812,999 (GRCm39) A559S probably damaging Het
Myh1 C G 11: 67,092,719 (GRCm39) D4E probably damaging Het
Or2ah1 A G 2: 85,654,134 (GRCm39) K273R probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or52e19 A T 7: 102,959,561 (GRCm39) D211V probably damaging Het
Pcdhac1 T C 18: 37,223,381 (GRCm39) Y65H probably damaging Het
Pcdhga8 A T 18: 37,860,315 (GRCm39) Y457F probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pja2 A T 17: 64,596,962 (GRCm39) M514K probably damaging Het
Plcxd2 T C 16: 45,792,488 (GRCm39) N284D probably damaging Het
Polr3d A T 14: 70,678,577 (GRCm39) M129K probably benign Het
Ppp1r42 T G 1: 10,069,732 (GRCm39) E110A probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prelid2 A G 18: 42,045,514 (GRCm39) I132T possibly damaging Het
Sergef G A 7: 46,282,091 (GRCm39) probably null Het
Slc24a2 C A 4: 87,145,119 (GRCm39) probably null Het
Stxbp3 A T 3: 108,734,916 (GRCm39) D24E possibly damaging Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Thsd7a G A 6: 12,555,630 (GRCm39) H85Y possibly damaging Het
Tlr2 T A 3: 83,745,603 (GRCm39) E160V probably benign Het
Tmem171 A T 13: 98,828,678 (GRCm39) C157* probably null Het
Trpm3 T C 19: 22,903,392 (GRCm39) Y1051H probably damaging Het
Vmn2r28 A G 7: 5,491,408 (GRCm39) F280L probably benign Het
Xpo7 A T 14: 70,914,253 (GRCm39) Y748N probably damaging Het
Zan T C 5: 137,436,782 (GRCm39) S2024G unknown Het
Zfhx2 A T 14: 55,301,539 (GRCm39) Y2148* probably null Het
Zscan4-ps1 T C 7: 10,799,906 (GRCm39) T328A probably benign Het
Other mutations in Ap3s2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Ap3s2 APN 7 79,565,824 (GRCm39) missense probably benign 0.35
G1patch:Ap3s2 UTSW 7 79,570,390 (GRCm39) unclassified probably benign
R0138:Ap3s2 UTSW 7 79,559,617 (GRCm39) missense probably benign 0.28
R0909:Ap3s2 UTSW 7 79,530,266 (GRCm39) missense probably benign 0.01
R1711:Ap3s2 UTSW 7 79,530,238 (GRCm39) missense probably damaging 0.98
R4909:Ap3s2 UTSW 7 79,564,989 (GRCm39) missense possibly damaging 0.90
R5041:Ap3s2 UTSW 7 79,570,267 (GRCm39) missense probably benign 0.07
R5528:Ap3s2 UTSW 7 79,530,234 (GRCm39) makesense probably null
R5630:Ap3s2 UTSW 7 79,559,647 (GRCm39) missense probably damaging 1.00
R7473:Ap3s2 UTSW 7 79,565,779 (GRCm39) missense probably damaging 1.00
R8914:Ap3s2 UTSW 7 79,564,911 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GACCCAAGGGAAAGTGTCAC -3'
(R):5'- AGGCTTGGATTCGTTCCCAG -3'

Sequencing Primer
(F):5'- TCATGCACGGTGCCAGAG -3'
(R):5'- ATTCGTTCCCAGGCTGGC -3'
Posted On 2018-08-01