Incidental Mutation 'IGL02551:Ap3b1'
ID |
298094 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
IGL02551
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94554599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 245
(I245N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
AlphaFold |
Q9Z1T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022196
AA Change: I245N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022196 Gene: ENSMUSG00000021686 AA Change: I245N
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 |
|
Coding Region Coverage |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
G |
A |
1: 158,796,618 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
T |
C |
11: 109,975,068 (GRCm39) |
I109V |
probably benign |
Het |
Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
Adamts18 |
C |
A |
8: 114,425,704 (GRCm39) |
C1186F |
probably damaging |
Het |
Adamts5 |
A |
T |
16: 85,666,926 (GRCm39) |
V522E |
possibly damaging |
Het |
Adcy10 |
A |
G |
1: 165,370,802 (GRCm39) |
T694A |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,609,250 (GRCm39) |
V609I |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,800,006 (GRCm39) |
K638R |
possibly damaging |
Het |
Alpk2 |
T |
A |
18: 65,505,822 (GRCm39) |
N66I |
probably damaging |
Het |
Aqp9 |
A |
G |
9: 71,039,922 (GRCm39) |
V120A |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,579,553 (GRCm39) |
E465G |
probably damaging |
Het |
Btrc |
G |
T |
19: 45,411,573 (GRCm39) |
C31F |
possibly damaging |
Het |
Calhm2 |
G |
A |
19: 47,121,539 (GRCm39) |
S210L |
probably damaging |
Het |
Cnksr3 |
C |
A |
10: 7,102,912 (GRCm39) |
K153N |
probably damaging |
Het |
Cnr1 |
T |
C |
4: 33,943,686 (GRCm39) |
S25P |
probably benign |
Het |
Dnajc6 |
T |
A |
4: 101,496,550 (GRCm39) |
W838R |
probably damaging |
Het |
Fam78a |
T |
A |
2: 31,959,568 (GRCm39) |
T181S |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,504,435 (GRCm39) |
T4600A |
probably damaging |
Het |
Fbxo31 |
A |
T |
8: 122,293,083 (GRCm39) |
Y101N |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,232,389 (GRCm39) |
M1V |
probably null |
Het |
Gsdmc |
T |
A |
15: 63,673,782 (GRCm39) |
T168S |
probably benign |
Het |
Has1 |
C |
T |
17: 18,068,560 (GRCm39) |
V265I |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,344,823 (GRCm39) |
D4670G |
possibly damaging |
Het |
Kcnj4 |
C |
T |
15: 79,369,103 (GRCm39) |
M292I |
probably benign |
Het |
Kmo |
A |
T |
1: 175,465,485 (GRCm39) |
S80C |
probably damaging |
Het |
Lrrc8d |
C |
T |
5: 105,961,414 (GRCm39) |
T608I |
possibly damaging |
Het |
Mical2 |
A |
T |
7: 111,923,197 (GRCm39) |
N635I |
probably benign |
Het |
Nags |
T |
C |
11: 102,038,767 (GRCm39) |
S403P |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
Ncan |
A |
T |
8: 70,555,112 (GRCm39) |
N1018K |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,373,705 (GRCm39) |
|
probably benign |
Het |
Nup93 |
C |
T |
8: 94,954,461 (GRCm39) |
Q53* |
probably null |
Het |
Pdk2 |
T |
A |
11: 94,919,412 (GRCm39) |
M288L |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,792,789 (GRCm39) |
Y1492C |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,239,692 (GRCm39) |
W34R |
probably damaging |
Het |
Pla2g6 |
T |
A |
15: 79,183,294 (GRCm39) |
D511V |
possibly damaging |
Het |
Plin2 |
C |
A |
4: 86,576,929 (GRCm39) |
M265I |
probably benign |
Het |
Ppp6c |
A |
T |
2: 39,096,669 (GRCm39) |
F78I |
probably damaging |
Het |
Prop1 |
A |
T |
11: 50,841,773 (GRCm39) |
M211K |
possibly damaging |
Het |
Prr14l |
T |
A |
5: 32,988,828 (GRCm39) |
E222D |
probably damaging |
Het |
Rtkn |
A |
T |
6: 83,128,905 (GRCm39) |
I454F |
probably damaging |
Het |
Serinc2 |
T |
C |
4: 130,154,567 (GRCm39) |
I226V |
probably benign |
Het |
Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
Slc13a3 |
G |
T |
2: 165,266,493 (GRCm39) |
F348L |
probably damaging |
Het |
Slc6a15 |
T |
A |
10: 103,240,136 (GRCm39) |
|
probably benign |
Het |
Spg7 |
G |
A |
8: 123,803,717 (GRCm39) |
G249E |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm39) |
D40G |
probably benign |
Het |
Tmcc2 |
A |
G |
1: 132,285,317 (GRCm39) |
L683P |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,857,689 (GRCm39) |
S1097P |
probably benign |
Het |
Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
Ttll6 |
T |
C |
11: 96,045,526 (GRCm39) |
I581T |
probably benign |
Het |
Usp29 |
A |
G |
7: 6,966,352 (GRCm39) |
|
probably null |
Het |
Vgll4 |
A |
G |
6: 114,839,254 (GRCm39) |
W246R |
probably damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,003,100 (GRCm39) |
V170A |
probably benign |
Het |
Vmn2r62 |
T |
C |
7: 42,437,930 (GRCm39) |
T185A |
probably benign |
Het |
Vwce |
A |
G |
19: 10,622,400 (GRCm39) |
H234R |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,806,462 (GRCm39) |
E2194G |
possibly 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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |