Incidental Mutation 'R0265:Ap3b1'
ID |
34878 |
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 |
038491-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R0265 (G1)
|
Quality Score |
87 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94630189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 815
(K815E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
AlphaFold |
Q9Z1T1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: K815E
|
SMART Domains |
Protein: ENSMUSP00000022196 Gene: ENSMUSG00000021686 AA Change: K815E
Domain | Start | End | E-Value | Type |
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000231916
AA Change: K180E
|
Meta Mutation Damage Score |
0.0741 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.6%
- 20x: 92.0%
|
Validation Efficiency |
99% (83/84) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,822,850 (GRCm39) |
I321V |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,051,391 (GRCm39) |
D837G |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,617,440 (GRCm39) |
Y457* |
probably null |
Het |
Alox5 |
T |
C |
6: 116,397,323 (GRCm39) |
Y287C |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,933,168 (GRCm39) |
|
probably benign |
Het |
Atp11a |
A |
T |
8: 12,906,930 (GRCm39) |
|
probably benign |
Het |
Atp6v0a1 |
A |
T |
11: 100,939,341 (GRCm39) |
D702V |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,651,856 (GRCm39) |
N108Y |
probably damaging |
Het |
Ccdc57 |
G |
C |
11: 120,812,637 (GRCm39) |
A39G |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,803,333 (GRCm39) |
V581D |
probably benign |
Het |
Cfap20dc |
T |
G |
14: 8,431,667 (GRCm38) |
Y655S |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,304 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Ddit4l |
C |
T |
3: 137,330,048 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,909,245 (GRCm39) |
I1024F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,026 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,634,621 (GRCm39) |
F213I |
probably damaging |
Het |
Edrf1 |
G |
A |
7: 133,258,774 (GRCm39) |
D717N |
probably damaging |
Het |
Efna5 |
G |
A |
17: 62,958,068 (GRCm39) |
P63S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,484,681 (GRCm39) |
L486P |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,387,547 (GRCm39) |
Y248C |
probably damaging |
Het |
Flcn |
G |
A |
11: 59,686,635 (GRCm39) |
Q373* |
probably null |
Het |
Fry |
T |
C |
5: 150,358,241 (GRCm39) |
V1908A |
probably damaging |
Het |
Gabrg3 |
A |
T |
7: 57,031,365 (GRCm39) |
Y58* |
probably null |
Het |
Gabrp |
A |
T |
11: 33,502,614 (GRCm39) |
Y417N |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,194,964 (GRCm39) |
|
probably null |
Het |
Grip2 |
C |
A |
6: 91,750,773 (GRCm39) |
|
probably null |
Het |
Gsx2 |
A |
G |
5: 75,237,729 (GRCm39) |
Y227C |
probably damaging |
Het |
H2ac1 |
T |
C |
13: 24,118,632 (GRCm39) |
V63A |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,769,793 (GRCm39) |
*665W |
probably null |
Het |
Hsd3b1 |
C |
A |
3: 98,760,089 (GRCm39) |
V301L |
probably damaging |
Het |
Ifitm5 |
T |
C |
7: 140,529,921 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,418,067 (GRCm39) |
D498V |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,128,995 (GRCm39) |
D554E |
probably benign |
Het |
Itk |
G |
A |
11: 46,280,285 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,928,716 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,766,984 (GRCm39) |
V470A |
probably benign |
Het |
Lamb3 |
T |
A |
1: 193,002,839 (GRCm39) |
W95R |
probably damaging |
Het |
Lbhd2 |
T |
A |
12: 111,376,676 (GRCm39) |
I41N |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,321,015 (GRCm39) |
S1014C |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,832,743 (GRCm39) |
|
probably null |
Het |
Map3k19 |
A |
G |
1: 127,749,919 (GRCm39) |
I1144T |
possibly damaging |
Het |
Mfsd10 |
T |
C |
5: 34,792,507 (GRCm39) |
|
probably benign |
Het |
Mocos |
A |
G |
18: 24,799,333 (GRCm39) |
D189G |
probably benign |
Het |
Mvb12a |
T |
A |
8: 71,999,654 (GRCm39) |
F224L |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,405,723 (GRCm39) |
|
probably null |
Het |
Nos2 |
A |
T |
11: 78,828,428 (GRCm39) |
H249L |
probably damaging |
Het |
Notum |
A |
G |
11: 120,549,160 (GRCm39) |
M184T |
probably benign |
Het |
Nvl |
C |
A |
1: 180,962,395 (GRCm39) |
D192Y |
probably damaging |
Het |
Or10j3 |
A |
G |
1: 173,031,484 (GRCm39) |
K187R |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,790,839 (GRCm39) |
Y193C |
probably damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,434 (GRCm39) |
F112Y |
probably damaging |
Het |
Or5m12 |
T |
A |
2: 85,734,591 (GRCm39) |
N269I |
probably benign |
Het |
Or8k27 |
C |
A |
2: 86,276,303 (GRCm39) |
V8L |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,396 (GRCm39) |
I397V |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,616,510 (GRCm39) |
V123A |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,184,081 (GRCm39) |
Y181C |
probably damaging |
Het |
Pcdhgc5 |
A |
T |
18: 37,954,403 (GRCm39) |
D559V |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,982,270 (GRCm39) |
N151S |
unknown |
Het |
Plxnc1 |
C |
A |
10: 94,648,991 (GRCm39) |
G1263C |
probably benign |
Het |
Rad51ap1 |
A |
G |
6: 126,901,160 (GRCm39) |
*338Q |
probably null |
Het |
Raver1 |
A |
G |
9: 20,986,955 (GRCm39) |
S676P |
probably benign |
Het |
Rfx8 |
T |
C |
1: 39,727,737 (GRCm39) |
E196G |
possibly damaging |
Het |
Rreb1 |
A |
T |
13: 38,100,131 (GRCm39) |
K187* |
probably null |
Het |
Rxfp1 |
T |
C |
3: 79,574,961 (GRCm39) |
T217A |
probably benign |
Het |
Rxra |
T |
C |
2: 27,642,442 (GRCm39) |
L305P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,117,078 (GRCm39) |
|
probably benign |
Het |
Skor2 |
A |
T |
18: 76,964,293 (GRCm39) |
E952D |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,147,334 (GRCm39) |
S343T |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,238,374 (GRCm39) |
|
probably benign |
Het |
Supt7l |
C |
T |
5: 31,673,262 (GRCm39) |
V329I |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tac1 |
T |
C |
6: 7,559,165 (GRCm39) |
|
probably benign |
Het |
Tcn2 |
A |
T |
11: 3,872,044 (GRCm39) |
V361D |
probably damaging |
Het |
Tm2d3 |
G |
A |
7: 65,347,582 (GRCm39) |
A170T |
possibly damaging |
Het |
Tnks |
G |
A |
8: 35,307,124 (GRCm39) |
R1142* |
probably null |
Het |
Ttll7 |
C |
A |
3: 146,649,915 (GRCm39) |
Y648* |
probably null |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Upf2 |
G |
A |
2: 6,032,015 (GRCm39) |
|
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,210,809 (GRCm39) |
I1013T |
probably benign |
Het |
Zfp704 |
C |
A |
3: 9,630,217 (GRCm39) |
R48L |
probably damaging |
Het |
|
Other mutations in Ap3b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R0270:Ap3b1
|
UTSW |
13 |
94,540,626 (GRCm39) |
splice site |
probably benign |
|
R0346:Ap3b1
|
UTSW |
13 |
94,582,479 (GRCm39) |
nonsense |
probably null |
|
R0422:Ap3b1
|
UTSW |
13 |
94,598,968 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CAGTGCCTCTCACAGACTGACATC -3'
(R):5'- ATGCTTCTACTTGGGAAACCTACGC -3'
Sequencing Primer
(F):5'- ACCTGTCTAGCAGTTATCTCGAAG -3'
(R):5'- TTGGGAAACCTACGCGAGAAG -3'
|
Posted On |
2013-05-09 |