Incidental Mutation 'R6812:Ap3b1'
| ID |
533868 |
| 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 |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.380)
|
| Stock # |
R6812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
94358960-94566317 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94479861 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 757
(T757S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: T757S
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: T757S
| 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: T122S
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,795,798 (GRCm38) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,367,167 (GRCm38) |
M686L |
unknown |
Het |
| Apob |
A |
T |
12: 7,983,062 (GRCm38) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,047,263 (GRCm38) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,284,877 (GRCm38) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,409,537 (GRCm38) |
Y37H |
probably damaging |
Het |
| Birc3 |
T |
G |
9: 7,854,417 (GRCm38) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,713,044 (GRCm38) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,315,600 (GRCm38) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,661,409 (GRCm38) |
I1233N |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,858,069 (GRCm38) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,622,499 (GRCm38) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 149,081,132 (GRCm38) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,959,341 (GRCm38) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,981,329 (GRCm38) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 70,000,995 (GRCm38) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 138,103,376 (GRCm38) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,085,576 (GRCm38) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,634,001 (GRCm38) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,421,845 (GRCm38) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,094,476 (GRCm38) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,535,089 (GRCm38) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,150,749 (GRCm38) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,081,788 (GRCm38) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,878,411 (GRCm38) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,697,995 (GRCm38) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 128,705,410 (GRCm38) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 106,969,751 (GRCm38) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,997,979 (GRCm38) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,408,789 (GRCm38) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,455,264 (GRCm38) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 67,086,402 (GRCm38) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,832,913 (GRCm38) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,351,676 (GRCm38) |
D803G |
probably damaging |
Het |
| Or5b119 |
T |
C |
19: 13,479,611 (GRCm38) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,342,922 (GRCm38) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 160,533,048 (GRCm38) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 105,047,152 (GRCm38) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,213,141 (GRCm38) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,333,403 (GRCm38) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,596,105 (GRCm38) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,823,548 (GRCm38) |
R1347L |
probably benign |
Het |
| Rnf219 |
A |
G |
14: 104,510,432 (GRCm38) |
V40A |
unknown |
Het |
| Rtp3 |
A |
G |
9: 110,987,112 (GRCm38) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,946,906 (GRCm38) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,337,856 (GRCm38) |
N314S |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,210,769 (GRCm38) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,116,443 (GRCm38) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,900,861 (GRCm38) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,413,269 (GRCm38) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,888,482 (GRCm38) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,197,419 (GRCm38) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,412,542 (GRCm38) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,206,308 (GRCm38) |
D61G |
possibly damaging |
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 |
|
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 |
|
R7757:Ap3b1
|
UTSW |
13 |
94,528,158 (GRCm38) |
splice site |
probably null |
|
|
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'- GCCCATCTAAGTCAGTACCTCC -3'
(R):5'- GAACCCTAAGATCTGCTCACG -3'
Sequencing Primer
(F):5'- GGTCCTACACGTAGTTAAATGGC -3'
(R):5'- GATCTGCTCACGTTCAAAATAAAAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation