Incidental Mutation 'R4624:Ap3b1'
| ID |
346444 |
| 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 |
041889-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R4624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94619734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 766
(R766G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: R766G
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: R766G
| 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: R131G
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
93% (85/91) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,873 (GRCm39) |
T134A |
possibly damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Adgb |
C |
A |
10: 10,278,748 (GRCm39) |
V267L |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,128 (GRCm39) |
H863R |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
| Bcr |
A |
T |
10: 74,989,752 (GRCm39) |
E716V |
probably damaging |
Het |
| Borcs6 |
T |
C |
11: 68,951,423 (GRCm39) |
L267P |
probably damaging |
Het |
| Ccdc184 |
A |
T |
15: 98,066,638 (GRCm39) |
N148Y |
probably benign |
Het |
| Ccdc50 |
A |
G |
16: 27,255,351 (GRCm39) |
K223R |
probably null |
Het |
| Cd2 |
T |
G |
3: 101,194,747 (GRCm39) |
K114Q |
probably benign |
Het |
| Cdh19 |
T |
C |
1: 110,859,981 (GRCm39) |
K167E |
probably benign |
Het |
| Cep131 |
T |
C |
11: 119,961,658 (GRCm39) |
E558G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,200,059 (GRCm39) |
V3423E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,704,809 (GRCm39) |
C663* |
probably null |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,453 (GRCm39) |
I238V |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,913 (GRCm39) |
I893T |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,578 (GRCm39) |
V129M |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,831,791 (GRCm39) |
|
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,533,545 (GRCm39) |
V671A |
probably benign |
Het |
| Fcamr |
T |
G |
1: 130,730,999 (GRCm39) |
L28R |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,554 (GRCm39) |
I144T |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,907,343 (GRCm39) |
L839P |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,169 (GRCm39) |
I364F |
probably benign |
Het |
| Gm10291 |
T |
C |
3: 78,824,581 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,362,676 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,710,823 (GRCm39) |
M908V |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,881,101 (GRCm39) |
E436G |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,061 (GRCm39) |
C149* |
probably null |
Het |
| Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,124,253 (GRCm39) |
D47E |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,482,813 (GRCm39) |
F1419L |
possibly damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Klhl24 |
A |
G |
16: 19,938,873 (GRCm39) |
D476G |
probably damaging |
Het |
| Krt79 |
T |
A |
15: 101,848,241 (GRCm39) |
T137S |
possibly damaging |
Het |
| Lilrb4a |
A |
G |
10: 51,367,584 (GRCm39) |
Y42C |
probably damaging |
Het |
| Lnx1 |
C |
T |
5: 74,821,121 (GRCm39) |
|
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,121,927 (GRCm39) |
Y497H |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,257,946 (GRCm39) |
E371K |
probably damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,375 (GRCm39) |
Q181R |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,093 (GRCm39) |
K631R |
possibly damaging |
Het |
| Or5an10 |
C |
T |
19: 12,276,347 (GRCm39) |
V50I |
probably benign |
Het |
| Pcdh9 |
T |
A |
14: 94,123,845 (GRCm39) |
N775I |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,575,341 (GRCm39) |
|
probably benign |
Het |
| Pick1 |
T |
A |
15: 79,130,666 (GRCm39) |
I250N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,335 (GRCm39) |
E3556G |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,359,489 (GRCm39) |
Q1566* |
probably null |
Het |
| Ptgr2 |
T |
G |
12: 84,355,128 (GRCm39) |
F287L |
possibly damaging |
Het |
| Ptprv |
T |
C |
1: 135,051,869 (GRCm39) |
|
noncoding transcript |
Het |
| Rab5b |
G |
T |
10: 128,519,130 (GRCm39) |
H83Q |
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rapgef3 |
G |
T |
15: 97,656,810 (GRCm39) |
D318E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rsrc1 |
T |
C |
3: 67,257,311 (GRCm39) |
V241A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 12,121,301 (GRCm39) |
I11N |
possibly damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,321 (GRCm39) |
L55P |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,706,652 (GRCm39) |
S254P |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,178 (GRCm39) |
T147I |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,184,411 (GRCm39) |
E651G |
probably benign |
Het |
| Stox2 |
C |
A |
8: 47,646,851 (GRCm39) |
R203L |
probably damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,691 (GRCm39) |
D224E |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,881 (GRCm39) |
L1389P |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,812,895 (GRCm39) |
S134G |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,515,267 (GRCm39) |
|
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,456,162 (GRCm39) |
M234V |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,603,804 (GRCm39) |
D208G |
probably benign |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Unc45b |
T |
A |
11: 82,816,835 (GRCm39) |
M425K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,547,300 (GRCm39) |
E289K |
possibly damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,200,101 (GRCm39) |
R451W |
probably damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,484,341 (GRCm39) |
Y488C |
probably damaging |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,627 (GRCm39) |
I259F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,031,949 (GRCm39) |
R2277Q |
possibly damaging |
Het |
| Wdr64 |
T |
G |
1: 175,599,829 (GRCm39) |
M111R |
probably benign |
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 |
|
|
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 |
|
|
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'- CATGTCAGGATCAGAGAGCC -3'
(R):5'- ATGTACGTCAGCACAGCAC -3'
Sequencing Primer
(F):5'- GAAGATCAGACTGTGCTTGTCATTC -3'
(R):5'- ACATGCATGGTCTTACCGGAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation