Incidental Mutation 'R7757:Ap3b1'
| ID |
628517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap3b1
|
| Ensembl Gene |
ENSMUSG00000021686 |
| Gene Name |
adaptor-related protein complex 3, beta 1 subunit |
| Synonyms |
recombination induced mutation 2, rim2, Hps2, beta3A, AP-3 |
| MMRRC Submission |
045813-MU
|
| Accession Numbers |
Ap3b1: Ncbi RefSeq: NM_009680; MGI: 1333879;
|
| Essential gene? |
Possibly non essential
(E-score: 0.380)
|
| Stock # |
R7757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
94358960-94566317 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 94528158 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022196
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
| 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 |
probably null
Transcript: ENSMUST00000231916
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (70/73) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
A |
T |
15: 8,252,227 (GRCm38) |
E2850V |
unknown |
Het |
| 2700049A03Rik |
G |
A |
12: 71,189,413 (GRCm38) |
M1179I |
probably benign |
Het |
| 6430550D23Rik |
T |
C |
2: 156,003,431 (GRCm38) |
T18A |
possibly damaging |
Het |
| Acox2 |
T |
C |
14: 8,230,166 (GRCm38) |
N659S |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,376,278 (GRCm38) |
V192A |
possibly damaging |
Het |
| Bche |
T |
A |
3: 73,701,121 (GRCm38) |
D324V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,114,740 (GRCm38) |
I1271T |
possibly damaging |
Het |
| Capn12 |
T |
C |
7: 28,882,821 (GRCm38) |
L120P |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,563,434 (GRCm38) |
S2273T |
probably benign |
Het |
| Ckap4 |
T |
C |
10: 84,528,467 (GRCm38) |
E244G |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,156,822 (GRCm38) |
Y545H |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,098,272 (GRCm38) |
T103S |
possibly damaging |
Het |
| Cpne9 |
G |
A |
6: 113,284,445 (GRCm38) |
V121M |
possibly damaging |
Het |
| Csmd2 |
T |
A |
4: 128,483,456 (GRCm38) |
I2043N |
|
Het |
| Disc1 |
A |
G |
8: 125,087,504 (GRCm38) |
T36A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,790,910 (GRCm38) |
Y708H |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,971,215 (GRCm38) |
|
probably null |
Het |
| Dnah3 |
A |
G |
7: 120,071,570 (GRCm38) |
V635A |
probably benign |
Het |
| Dync1li1 |
A |
G |
9: 114,709,277 (GRCm38) |
H234R |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,889,966 (GRCm38) |
V660A |
possibly damaging |
Het |
| Epb42 |
T |
C |
2: 121,027,719 (GRCm38) |
R253G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,311,421 (GRCm38) |
T276S |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,764,503 (GRCm38) |
|
probably null |
Het |
| Ginm1 |
A |
T |
10: 7,779,355 (GRCm38) |
I41N |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,950,433 (GRCm38) |
|
probably benign |
Het |
| Gm49368 |
C |
T |
7: 128,112,226 (GRCm38) |
R701C |
probably damaging |
Het |
| Gpr37 |
T |
A |
6: 25,688,208 (GRCm38) |
I297F |
probably benign |
Het |
| Gprc5a |
T |
A |
6: 135,079,344 (GRCm38) |
I263N |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,454,451 (GRCm38) |
S345T |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,742,915 (GRCm38) |
M255V |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,697,237 (GRCm38) |
S1202A |
possibly damaging |
Het |
| Il23r |
T |
G |
6: 67,423,981 (GRCm38) |
D455A |
probably benign |
Het |
| Irs2 |
T |
A |
8: 11,006,522 (GRCm38) |
K637* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,283,546 (GRCm38) |
V314A |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,082,623 (GRCm38) |
|
probably benign |
Het |
| Mill1 |
T |
C |
7: 18,262,466 (GRCm38) |
M69T |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,884 (GRCm38) |
|
probably null |
Het |
| Mup8 |
T |
A |
4: 60,220,333 (GRCm38) |
Q133L |
probably benign |
Het |
| Mup8 |
C |
A |
4: 60,220,332 (GRCm38) |
Q133H |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,191,619 (GRCm38) |
Y2374N |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,257,450 (GRCm38) |
K1166N |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,448,196 (GRCm38) |
R8S |
probably benign |
Het |
| Nrcam |
C |
T |
12: 44,549,898 (GRCm38) |
Q25* |
probably null |
Het |
| Nudt16 |
A |
C |
9: 105,131,561 (GRCm38) |
M47R |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,828,995 (GRCm38) |
S145P |
probably benign |
Het |
| Olfr1222 |
T |
C |
2: 89,124,989 (GRCm38) |
I247M |
possibly damaging |
Het |
| Olfr959 |
A |
G |
9: 39,572,465 (GRCm38) |
W265R |
probably benign |
Het |
| Osbpl1a |
A |
T |
18: 12,933,600 (GRCm38) |
V34D |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,876,921 (GRCm38) |
N521Y |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,449,834 (GRCm38) |
D664E |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,082,151 (GRCm38) |
|
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,562,415 (GRCm38) |
L592P |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,729,376 (GRCm38) |
H480R |
probably benign |
Het |
| Rnf216 |
T |
A |
5: 143,080,236 (GRCm38) |
K532N |
probably damaging |
Het |
| Schip1 |
C |
A |
3: 68,617,695 (GRCm38) |
Q358K |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,087 (GRCm38) |
E117V |
possibly damaging |
Het |
| Sept11 |
A |
T |
5: 93,171,464 (GRCm38) |
|
probably null |
Het |
| Shprh |
A |
T |
10: 11,162,180 (GRCm38) |
E420V |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,196,973 (GRCm38) |
H232L |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,719,660 (GRCm38) |
N25S |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 73,050,839 (GRCm38) |
T200M |
probably damaging |
Het |
| Smad2 |
C |
T |
18: 76,288,013 (GRCm38) |
H138Y |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,786,165 (GRCm38) |
S34P |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,648,585 (GRCm38) |
V126A |
probably damaging |
Het |
| Srcap |
C |
T |
7: 127,530,794 (GRCm38) |
T596I |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,406,943 (GRCm38) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,663,964 (GRCm38) |
D939G |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,061,779 (GRCm38) |
C979F |
possibly damaging |
Het |
| Tanc2 |
C |
A |
11: 105,776,858 (GRCm38) |
N88K |
possibly damaging |
Het |
| Tll2 |
A |
T |
19: 41,096,008 (GRCm38) |
V677E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,918,490 (GRCm38) |
T4072A |
probably benign |
Het |
| Unc13b |
CAGAGC |
CAGAGCGAGAGC |
4: 43,177,341 (GRCm38) |
|
probably benign |
Het |
| Unc13b |
AGAGCC |
AGAGCCCGAGCC |
4: 43,177,330 (GRCm38) |
|
probably benign |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm38) |
|
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,255,254 (GRCm38) |
F320Y |
possibly damaging |
Het |
| Zscan4f |
G |
T |
7: 11,401,278 (GRCm38) |
G204* |
probably null |
Het |
|
| Other mutations in Ap3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Ap3b1
|
APN |
13 |
94,390,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00766:Ap3b1
|
APN |
13 |
94,542,884 (GRCm38) |
splice site |
probably benign |
|
|
IGL01784:Ap3b1
|
APN |
13 |
94,493,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01979:Ap3b1
|
APN |
13 |
94,448,463 (GRCm38) |
nonsense |
probably null |
|
|
IGL02040:Ap3b1
|
APN |
13 |
94,408,845 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02119:Ap3b1
|
APN |
13 |
94,462,403 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02247:Ap3b1
|
APN |
13 |
94,394,795 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02303:Ap3b1
|
APN |
13 |
94,528,319 (GRCm38) |
missense |
unknown |
|
|
IGL02493:Ap3b1
|
APN |
13 |
94,404,020 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02551:Ap3b1
|
APN |
13 |
94,418,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02651:Ap3b1
|
APN |
13 |
94,477,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02832:Ap3b1
|
APN |
13 |
94,528,327 (GRCm38) |
missense |
unknown |
|
|
IGL03033:Ap3b1
|
APN |
13 |
94,448,495 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL03101:Ap3b1
|
APN |
13 |
94,455,398 (GRCm38) |
missense |
probably benign |
0.00 |
|
bella
|
UTSW |
13 |
94,528,257 (GRCm38) |
missense |
unknown |
|
|
bullet_gray
|
UTSW |
13 |
94,451,086 (GRCm38) |
critical splice donor site |
probably benign |
|
|
cuttlefish
|
UTSW |
13 |
94,448,451 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Gastropod
|
UTSW |
13 |
94,542,840 (GRCm38) |
missense |
unknown |
|
|
razor
|
UTSW |
13 |
94,493,731 (GRCm38) |
missense |
unknown |
|
|
Slime
|
UTSW |
13 |
94,404,078 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
slug
|
UTSW |
13 |
94,408,845 (GRCm38) |
critical splice donor site |
probably null |
|
|
snail
|
UTSW |
13 |
94,479,885 (GRCm38) |
splice site |
probably benign |
|
|
stalk
|
UTSW |
13 |
94,472,931 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0034:Ap3b1
|
UTSW |
13 |
94,479,885 (GRCm38) |
splice site |
probably benign |
|
|
R0265:Ap3b1
|
UTSW |
13 |
94,493,681 (GRCm38) |
missense |
unknown |
|
|
R0270:Ap3b1
|
UTSW |
13 |
94,404,118 (GRCm38) |
splice site |
probably benign |
|
|
R0346:Ap3b1
|
UTSW |
13 |
94,445,971 (GRCm38) |
nonsense |
probably null |
|
|
R0422:Ap3b1
|
UTSW |
13 |
94,462,460 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0496:Ap3b1
|
UTSW |
13 |
94,472,938 (GRCm38) |
splice site |
probably benign |
|
|
R0508:Ap3b1
|
UTSW |
13 |
94,565,714 (GRCm38) |
missense |
unknown |
|
|
R0764:Ap3b1
|
UTSW |
13 |
94,479,879 (GRCm38) |
splice site |
probably benign |
|
|
R1506:Ap3b1
|
UTSW |
13 |
94,446,143 (GRCm38) |
splice site |
probably benign |
|
|
R1593:Ap3b1
|
UTSW |
13 |
94,501,927 (GRCm38) |
missense |
unknown |
|
|
R1660:Ap3b1
|
UTSW |
13 |
94,408,812 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1735:Ap3b1
|
UTSW |
13 |
94,493,717 (GRCm38) |
missense |
unknown |
|
|
R1791:Ap3b1
|
UTSW |
13 |
94,408,797 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1818:Ap3b1
|
UTSW |
13 |
94,471,704 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2280:Ap3b1
|
UTSW |
13 |
94,528,216 (GRCm38) |
missense |
unknown |
|
|
R3031:Ap3b1
|
UTSW |
13 |
94,565,643 (GRCm38) |
missense |
unknown |
|
|
R3037:Ap3b1
|
UTSW |
13 |
94,445,978 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4401:Ap3b1
|
UTSW |
13 |
94,418,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4402:Ap3b1
|
UTSW |
13 |
94,418,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4403:Ap3b1
|
UTSW |
13 |
94,418,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4532:Ap3b1
|
UTSW |
13 |
94,565,735 (GRCm38) |
missense |
unknown |
|
|
R4624:Ap3b1
|
UTSW |
13 |
94,483,226 (GRCm38) |
missense |
unknown |
|
|
R4626:Ap3b1
|
UTSW |
13 |
94,404,078 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4754:Ap3b1
|
UTSW |
13 |
94,403,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4788:Ap3b1
|
UTSW |
13 |
94,565,641 (GRCm38) |
missense |
unknown |
|
|
R4847:Ap3b1
|
UTSW |
13 |
94,471,779 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4886:Ap3b1
|
UTSW |
13 |
94,472,805 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5096:Ap3b1
|
UTSW |
13 |
94,479,849 (GRCm38) |
missense |
unknown |
|
|
R5628:Ap3b1
|
UTSW |
13 |
94,477,048 (GRCm38) |
missense |
unknown |
|
|
R5671:Ap3b1
|
UTSW |
13 |
94,528,257 (GRCm38) |
missense |
unknown |
|
|
R5677:Ap3b1
|
UTSW |
13 |
94,528,196 (GRCm38) |
missense |
unknown |
|
|
R5862:Ap3b1
|
UTSW |
13 |
94,547,770 (GRCm38) |
missense |
unknown |
|
|
R5941:Ap3b1
|
UTSW |
13 |
94,483,265 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5941:Ap3b1
|
UTSW |
13 |
94,440,273 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6043:Ap3b1
|
UTSW |
13 |
94,476,993 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6212:Ap3b1
|
UTSW |
13 |
94,493,699 (GRCm38) |
missense |
unknown |
|
|
R6212:Ap3b1
|
UTSW |
13 |
94,451,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6301:Ap3b1
|
UTSW |
13 |
94,528,295 (GRCm38) |
missense |
unknown |
|
|
R6765:Ap3b1
|
UTSW |
13 |
94,462,509 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6812:Ap3b1
|
UTSW |
13 |
94,479,861 (GRCm38) |
missense |
unknown |
|
|
R6888:Ap3b1
|
UTSW |
13 |
94,408,791 (GRCm38) |
missense |
probably benign |
0.42 |
|
R6901:Ap3b1
|
UTSW |
13 |
94,418,142 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7157:Ap3b1
|
UTSW |
13 |
94,532,034 (GRCm38) |
nonsense |
probably null |
|
|
R7422:Ap3b1
|
UTSW |
13 |
94,528,165 (GRCm38) |
missense |
unknown |
|
|
R7642:Ap3b1
|
UTSW |
13 |
94,477,032 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7710:Ap3b1
|
UTSW |
13 |
94,451,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7867:Ap3b1
|
UTSW |
13 |
94,483,263 (GRCm38) |
missense |
unknown |
|
|
R8492:Ap3b1
|
UTSW |
13 |
94,394,786 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8706:Ap3b1
|
UTSW |
13 |
94,408,845 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8749:Ap3b1
|
UTSW |
13 |
94,528,217 (GRCm38) |
missense |
unknown |
|
|
R8876:Ap3b1
|
UTSW |
13 |
94,404,078 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8889:Ap3b1
|
UTSW |
13 |
94,542,840 (GRCm38) |
missense |
unknown |
|
|
R8892:Ap3b1
|
UTSW |
13 |
94,542,840 (GRCm38) |
missense |
unknown |
|
|
R9065:Ap3b1
|
UTSW |
13 |
94,471,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9152:Ap3b1
|
UTSW |
13 |
94,493,731 (GRCm38) |
missense |
unknown |
|
|
R9152:Ap3b1
|
UTSW |
13 |
94,472,931 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9166:Ap3b1
|
UTSW |
13 |
94,471,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9218:Ap3b1
|
UTSW |
13 |
94,448,451 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9269:Ap3b1
|
UTSW |
13 |
94,404,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATATGCACTCTATGACTGGCG -3'
(R):5'- GGATGAAAGGCATGCATCTGC -3'
Sequencing Primer
(F):5'- AAGTGTGTGTACCACCACTG -3'
(R):5'- TCTGCATGCCCACAGGAAG -3'
|
| Posted On |
2020-04-27 |
Incidental Mutation