Incidental Mutation 'R0422:Ap3b1'
ID 37148
Institutional Source Beutler Lab
Gene Symbol Ap3b1
Ensembl Gene ENSMUSG00000021686
Gene Name adaptor-related protein complex 3, beta 1 subunit
Synonyms AP-3, Hps2, beta3A, rim2, recombination induced mutation 2
MMRRC Submission 038624-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # R0422 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 94495468-94702825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94598968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 514 (I514T)
Ref Sequence ENSEMBL: ENSMUSP00000022196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022196]
AlphaFold Q9Z1T1
Predicted Effect probably damaging
Transcript: ENSMUST00000022196
AA Change: I514T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: I514T

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
Pfam:Adaptin_N 39 586 1.2e-170 PFAM
Pfam:SEEEED 672 812 1.3e-27 PFAM
AP3B1_C 822 969 1.58e-78 SMART
Blast:B2 993 1103 2e-27 BLAST
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. [provided by MGI curators]
Allele List at MGI

All alleles(53) : Targeted(4) Gene trapped(34) Spontaneous(14) Chemically induced(1)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,372,963 (GRCm39) Y155* probably null Het
Adamts16 A G 13: 70,887,074 (GRCm39) C937R probably damaging Het
Akna T C 4: 63,310,391 (GRCm39) D451G probably damaging Het
Alox12 A T 11: 70,145,384 (GRCm39) V63E probably damaging Het
Arhgap23 T C 11: 97,354,478 (GRCm39) M286T probably damaging Het
Cdkl2 T C 5: 92,168,171 (GRCm39) D341G probably benign Het
Clip2 T C 5: 134,526,967 (GRCm39) D813G probably benign Het
Cntnap3 A G 13: 64,905,099 (GRCm39) V894A probably damaging Het
Coro2b T A 9: 62,335,259 (GRCm39) Y304F probably benign Het
Dclre1a T A 19: 56,532,567 (GRCm39) K676* probably null Het
Dmxl2 A G 9: 54,307,224 (GRCm39) probably null Het
Dpep3 A G 8: 106,702,750 (GRCm39) probably null Het
Efna5 C T 17: 62,914,414 (GRCm39) A177T probably benign Het
Fabp1 G A 6: 71,180,077 (GRCm39) V83I possibly damaging Het
H2-DMa G T 17: 34,356,921 (GRCm39) G140C probably damaging Het
Hectd4 T A 5: 121,481,145 (GRCm39) probably null Het
Hyou1 T A 9: 44,300,539 (GRCm39) N869K probably damaging Het
Ing1 G A 8: 11,611,933 (GRCm39) V124I probably damaging Het
Kalrn T A 16: 34,134,643 (GRCm39) I380F probably damaging Het
Kcnh1 A G 1: 192,019,888 (GRCm39) I378V probably benign Het
Kmt2c A G 5: 25,520,662 (GRCm39) V1816A probably benign Het
Matn2 G A 15: 34,435,917 (GRCm39) probably null Het
Naip2 C T 13: 100,297,621 (GRCm39) S805N probably benign Het
Napsa A C 7: 44,234,530 (GRCm39) Q254P probably damaging Het
Nat10 G T 2: 103,557,074 (GRCm39) S860* probably null Het
Nipbl T C 15: 8,381,112 (GRCm39) D560G probably benign Het
Nr3c2 A G 8: 77,912,596 (GRCm39) M736V probably benign Het
Or4k44 A T 2: 111,368,328 (GRCm39) F102Y probably damaging Het
Or7e174 A T 9: 20,012,744 (GRCm39) R230* probably null Het
Or8u8 A T 2: 86,011,566 (GRCm39) D296E probably benign Het
Palm3 A G 8: 84,755,492 (GRCm39) S335G possibly damaging Het
Panx1 G T 9: 14,919,112 (GRCm39) S249* probably null Het
Parvb A G 15: 84,179,812 (GRCm39) T231A probably benign Het
Pcdhb11 G T 18: 37,554,923 (GRCm39) L84F probably damaging Het
Pi4k2b T C 5: 52,925,096 (GRCm39) *447Q probably null Het
Ppp1r1a A G 15: 103,440,783 (GRCm39) S125P probably benign Het
Prss1 T A 6: 41,440,246 (GRCm39) D194E probably damaging Het
Rnf216 A T 5: 143,001,409 (GRCm39) C772* probably null Het
Rnf216 A T 5: 143,076,125 (GRCm39) F253Y probably benign Het
Rsf1 A T 7: 97,330,024 (GRCm39) E1183D probably benign Het
Rusc1 T C 3: 88,994,132 (GRCm39) T958A probably benign Het
Rxfp1 A G 3: 79,558,038 (GRCm39) M480T probably benign Het
Slc22a16 T A 10: 40,467,886 (GRCm39) V473E probably damaging Het
Slc26a3 A G 12: 31,515,848 (GRCm39) T583A possibly damaging Het
Slc7a15 T C 12: 8,584,400 (GRCm39) T117A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Slitrk6 T A 14: 110,989,725 (GRCm39) probably benign Het
Spata31g1 T C 4: 42,972,199 (GRCm39) S511P possibly damaging Het
Spata7 A G 12: 98,624,524 (GRCm39) Y110C probably damaging Het
Supt16 T A 14: 52,421,453 (GRCm39) I31F probably benign Het
Taar7a T C 10: 23,869,172 (GRCm39) T70A probably benign Het
Top2a A G 11: 98,900,679 (GRCm39) F594L probably damaging Het
Unc13d C T 11: 115,960,846 (GRCm39) probably null Het
Unc80 T G 1: 66,522,497 (GRCm39) V233G probably damaging Het
Wdr91 A T 6: 34,857,781 (GRCm39) D735E probably damaging Het
Zzef1 A G 11: 72,756,917 (GRCm39) T1141A possibly damaging Het
Other mutations in Ap3b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Ap3b1 APN 13 94,527,371 (GRCm39) missense probably damaging 1.00
IGL00766:Ap3b1 APN 13 94,679,392 (GRCm39) splice site probably benign
IGL01784:Ap3b1 APN 13 94,630,247 (GRCm39) missense probably damaging 1.00
IGL01979:Ap3b1 APN 13 94,584,971 (GRCm39) nonsense probably null
IGL02040:Ap3b1 APN 13 94,545,353 (GRCm39) critical splice donor site probably null
IGL02119:Ap3b1 APN 13 94,598,911 (GRCm39) missense probably benign 0.01
IGL02247:Ap3b1 APN 13 94,531,303 (GRCm39) critical splice donor site probably null
IGL02303:Ap3b1 APN 13 94,664,827 (GRCm39) missense unknown
IGL02493:Ap3b1 APN 13 94,540,528 (GRCm39) missense probably damaging 0.98
IGL02551:Ap3b1 APN 13 94,554,599 (GRCm39) missense probably damaging 0.99
IGL02651:Ap3b1 APN 13 94,613,529 (GRCm39) missense probably damaging 1.00
IGL02832:Ap3b1 APN 13 94,664,835 (GRCm39) missense unknown
IGL03033:Ap3b1 APN 13 94,585,003 (GRCm39) missense probably benign 0.15
IGL03101:Ap3b1 APN 13 94,591,906 (GRCm39) missense probably benign 0.00
bella UTSW 13 94,664,765 (GRCm39) missense unknown
bullet_gray UTSW 13 94,587,594 (GRCm39) critical splice donor site probably benign
cuttlefish UTSW 13 94,584,959 (GRCm39) critical splice acceptor site probably null
Gastropod UTSW 13 94,679,348 (GRCm39) missense unknown
razor UTSW 13 94,630,239 (GRCm39) missense unknown
Slime UTSW 13 94,540,586 (GRCm39) missense possibly damaging 0.51
slug UTSW 13 94,545,353 (GRCm39) critical splice donor site probably null
snail UTSW 13 94,616,393 (GRCm39) splice site probably benign
stalk UTSW 13 94,609,439 (GRCm39) critical splice donor site probably null
R0034:Ap3b1 UTSW 13 94,616,393 (GRCm39) splice site probably benign
R0265:Ap3b1 UTSW 13 94,630,189 (GRCm39) missense unknown
R0270:Ap3b1 UTSW 13 94,540,626 (GRCm39) splice site probably benign
R0346:Ap3b1 UTSW 13 94,582,479 (GRCm39) nonsense probably null
R0496:Ap3b1 UTSW 13 94,609,446 (GRCm39) splice site probably benign
R0508:Ap3b1 UTSW 13 94,702,222 (GRCm39) missense unknown
R0764:Ap3b1 UTSW 13 94,616,387 (GRCm39) splice site probably benign
R1506:Ap3b1 UTSW 13 94,582,651 (GRCm39) splice site probably benign
R1593:Ap3b1 UTSW 13 94,638,435 (GRCm39) missense unknown
R1660:Ap3b1 UTSW 13 94,545,320 (GRCm39) missense probably damaging 0.98
R1735:Ap3b1 UTSW 13 94,630,225 (GRCm39) missense unknown
R1791:Ap3b1 UTSW 13 94,545,305 (GRCm39) missense possibly damaging 0.63
R1818:Ap3b1 UTSW 13 94,608,212 (GRCm39) missense possibly damaging 0.48
R2280:Ap3b1 UTSW 13 94,664,724 (GRCm39) missense unknown
R3031:Ap3b1 UTSW 13 94,702,151 (GRCm39) missense unknown
R3037:Ap3b1 UTSW 13 94,582,486 (GRCm39) critical splice donor site probably null
R4401:Ap3b1 UTSW 13 94,554,607 (GRCm39) missense probably damaging 1.00
R4402:Ap3b1 UTSW 13 94,554,607 (GRCm39) missense probably damaging 1.00
R4403:Ap3b1 UTSW 13 94,554,607 (GRCm39) missense probably damaging 1.00
R4532:Ap3b1 UTSW 13 94,702,243 (GRCm39) missense unknown
R4624:Ap3b1 UTSW 13 94,619,734 (GRCm39) missense unknown
R4626:Ap3b1 UTSW 13 94,540,586 (GRCm39) missense possibly damaging 0.51
R4754:Ap3b1 UTSW 13 94,540,468 (GRCm39) missense probably damaging 1.00
R4788:Ap3b1 UTSW 13 94,702,149 (GRCm39) missense unknown
R4847:Ap3b1 UTSW 13 94,608,287 (GRCm39) missense probably benign 0.15
R4886:Ap3b1 UTSW 13 94,609,313 (GRCm39) missense possibly damaging 0.50
R5096:Ap3b1 UTSW 13 94,616,357 (GRCm39) missense unknown
R5628:Ap3b1 UTSW 13 94,613,556 (GRCm39) missense unknown
R5671:Ap3b1 UTSW 13 94,664,765 (GRCm39) missense unknown
R5677:Ap3b1 UTSW 13 94,664,704 (GRCm39) missense unknown
R5862:Ap3b1 UTSW 13 94,684,278 (GRCm39) missense unknown
R5941:Ap3b1 UTSW 13 94,619,773 (GRCm39) missense probably damaging 0.96
R5941:Ap3b1 UTSW 13 94,576,781 (GRCm39) missense probably benign 0.02
R6043:Ap3b1 UTSW 13 94,613,501 (GRCm39) missense probably benign 0.09
R6212:Ap3b1 UTSW 13 94,630,207 (GRCm39) missense unknown
R6212:Ap3b1 UTSW 13 94,587,581 (GRCm39) missense probably damaging 1.00
R6301:Ap3b1 UTSW 13 94,664,803 (GRCm39) missense unknown
R6765:Ap3b1 UTSW 13 94,599,017 (GRCm39) missense probably benign 0.02
R6812:Ap3b1 UTSW 13 94,616,369 (GRCm39) missense unknown
R6888:Ap3b1 UTSW 13 94,545,299 (GRCm39) missense probably benign 0.42
R6901:Ap3b1 UTSW 13 94,554,650 (GRCm39) missense probably benign 0.00
R7157:Ap3b1 UTSW 13 94,668,542 (GRCm39) nonsense probably null
R7422:Ap3b1 UTSW 13 94,664,673 (GRCm39) missense unknown
R7642:Ap3b1 UTSW 13 94,613,540 (GRCm39) missense probably benign 0.19
R7710:Ap3b1 UTSW 13 94,587,581 (GRCm39) missense probably damaging 1.00
R7757:Ap3b1 UTSW 13 94,664,666 (GRCm39) splice site probably null
R7867:Ap3b1 UTSW 13 94,619,771 (GRCm39) missense unknown
R8492:Ap3b1 UTSW 13 94,531,294 (GRCm39) missense possibly damaging 0.60
R8706:Ap3b1 UTSW 13 94,545,353 (GRCm39) critical splice donor site probably null
R8749:Ap3b1 UTSW 13 94,664,725 (GRCm39) missense unknown
R8876:Ap3b1 UTSW 13 94,540,586 (GRCm39) missense possibly damaging 0.51
R8889:Ap3b1 UTSW 13 94,679,348 (GRCm39) missense unknown
R8892:Ap3b1 UTSW 13 94,679,348 (GRCm39) missense unknown
R9065:Ap3b1 UTSW 13 94,608,223 (GRCm39) missense probably damaging 1.00
R9152:Ap3b1 UTSW 13 94,630,239 (GRCm39) missense unknown
R9152:Ap3b1 UTSW 13 94,609,439 (GRCm39) critical splice donor site probably null
R9166:Ap3b1 UTSW 13 94,608,236 (GRCm39) missense probably damaging 1.00
R9218:Ap3b1 UTSW 13 94,584,959 (GRCm39) critical splice acceptor site probably null
R9269:Ap3b1 UTSW 13 94,540,570 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGTGCCGTAGCAGCTCCTAAAG -3'
(R):5'- TCAACCGTAGGACCTAGTACAGCAG -3'

Sequencing Primer
(F):5'- CGTAGCAGCTCCTAAAGGAATG -3'
(R):5'- CCTAGTACAGCAGGGTGCAG -3'
Posted On 2013-05-09