Incidental Mutation 'R3421:Ap3b2'
| ID |
267043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap3b2
|
| Ensembl Gene |
ENSMUSG00000062444 |
| Gene Name |
adaptor-related protein complex 3, beta 2 subunit |
| Synonyms |
Naptb, beta3B |
| MMRRC Submission |
040639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 81123598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
[ENSMUST00000152355]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082090
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
34 |
590 |
8.2e-182 |
PFAM |
|
low complexity region
|
689 |
782 |
N/A |
INTRINSIC |
|
AP3B1_C
|
801 |
947 |
4.58e-75 |
SMART |
|
Blast:B2
|
971 |
1080 |
2e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152355
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,350,697 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,070,950 (GRCm39) |
L196* |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,495 (GRCm39) |
Y356* |
probably null |
Het |
| Ccdc40 |
C |
T |
11: 119,125,605 (GRCm39) |
P348L |
probably benign |
Het |
| Chrdl2 |
G |
A |
7: 99,673,075 (GRCm39) |
C9Y |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,038 (GRCm39) |
D192G |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Dmgdh |
T |
C |
13: 93,847,869 (GRCm39) |
V522A |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,041,332 (GRCm39) |
Y246N |
probably damaging |
Het |
| Gtf2ird1 |
T |
A |
5: 134,417,354 (GRCm39) |
M518L |
probably benign |
Het |
| Hoxc6 |
T |
A |
15: 102,919,327 (GRCm39) |
W188R |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,904,655 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,113,230 (GRCm39) |
E453V |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,013,337 (GRCm39) |
Y80C |
probably damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4c123 |
C |
G |
2: 89,126,897 (GRCm39) |
S239T |
probably benign |
Het |
| Or4g7 |
A |
G |
2: 111,309,297 (GRCm39) |
H56R |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or8d1 |
A |
G |
9: 38,766,621 (GRCm39) |
K88E |
possibly damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,459,774 (GRCm39) |
V124A |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,990 (GRCm39) |
I230T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc25a17 |
C |
T |
15: 81,244,901 (GRCm39) |
V11I |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,964 (GRCm39) |
D52E |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Telo2 |
C |
T |
17: 25,329,726 (GRCm39) |
R262Q |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,803,366 (GRCm39) |
*490R |
probably null |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp712 |
C |
T |
13: 67,200,456 (GRCm39) |
V10M |
probably damaging |
Het |
|
| Other mutations in Ap3b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Ap3b2
|
APN |
7 |
81,121,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01695:Ap3b2
|
APN |
7 |
81,126,687 (GRCm39) |
splice site |
probably benign |
|
|
IGL01876:Ap3b2
|
APN |
7 |
81,123,602 (GRCm39) |
splice site |
probably null |
|
|
IGL02132:Ap3b2
|
APN |
7 |
81,110,746 (GRCm39) |
missense |
unknown |
|
|
IGL02227:Ap3b2
|
APN |
7 |
81,123,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Ap3b2
|
APN |
7 |
81,115,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0045:Ap3b2
|
UTSW |
7 |
81,115,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0045:Ap3b2
|
UTSW |
7 |
81,115,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0142:Ap3b2
|
UTSW |
7 |
81,122,828 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0317:Ap3b2
|
UTSW |
7 |
81,113,429 (GRCm39) |
splice site |
probably null |
|
|
R0568:Ap3b2
|
UTSW |
7 |
81,114,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1035:Ap3b2
|
UTSW |
7 |
81,113,659 (GRCm39) |
missense |
unknown |
|
|
R1121:Ap3b2
|
UTSW |
7 |
81,113,943 (GRCm39) |
missense |
unknown |
|
|
R1160:Ap3b2
|
UTSW |
7 |
81,115,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1489:Ap3b2
|
UTSW |
7 |
81,113,438 (GRCm39) |
nonsense |
probably null |
|
|
R1542:Ap3b2
|
UTSW |
7 |
81,127,825 (GRCm39) |
splice site |
probably null |
|
|
R1652:Ap3b2
|
UTSW |
7 |
81,123,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Ap3b2
|
UTSW |
7 |
81,117,347 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1872:Ap3b2
|
UTSW |
7 |
81,113,898 (GRCm39) |
missense |
unknown |
|
|
R2065:Ap3b2
|
UTSW |
7 |
81,113,522 (GRCm39) |
missense |
unknown |
|
|
R2353:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R2354:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R2398:Ap3b2
|
UTSW |
7 |
81,126,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3932:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3933:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
R4152:Ap3b2
|
UTSW |
7 |
81,127,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Ap3b2
|
UTSW |
7 |
81,126,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4732:Ap3b2
|
UTSW |
7 |
81,121,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Ap3b2
|
UTSW |
7 |
81,121,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Ap3b2
|
UTSW |
7 |
81,127,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Ap3b2
|
UTSW |
7 |
81,126,517 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5659:Ap3b2
|
UTSW |
7 |
81,126,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6109:Ap3b2
|
UTSW |
7 |
81,143,340 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6223:Ap3b2
|
UTSW |
7 |
81,123,210 (GRCm39) |
nonsense |
probably null |
|
|
R6901:Ap3b2
|
UTSW |
7 |
81,134,660 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6981:Ap3b2
|
UTSW |
7 |
81,127,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Ap3b2
|
UTSW |
7 |
81,110,757 (GRCm39) |
missense |
unknown |
|
|
R7317:Ap3b2
|
UTSW |
7 |
81,110,776 (GRCm39) |
missense |
unknown |
|
|
R7501:Ap3b2
|
UTSW |
7 |
81,123,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7543:Ap3b2
|
UTSW |
7 |
81,115,894 (GRCm39) |
splice site |
probably null |
|
|
R7643:Ap3b2
|
UTSW |
7 |
81,126,820 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7707:Ap3b2
|
UTSW |
7 |
81,126,530 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8111:Ap3b2
|
UTSW |
7 |
81,113,530 (GRCm39) |
missense |
unknown |
|
|
R8273:Ap3b2
|
UTSW |
7 |
81,112,990 (GRCm39) |
missense |
unknown |
|
|
R8325:Ap3b2
|
UTSW |
7 |
81,134,237 (GRCm39) |
splice site |
probably null |
|
|
R8355:Ap3b2
|
UTSW |
7 |
81,122,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Ap3b2
|
UTSW |
7 |
81,122,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8716:Ap3b2
|
UTSW |
7 |
81,126,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8923:Ap3b2
|
UTSW |
7 |
81,126,931 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9002:Ap3b2
|
UTSW |
7 |
81,117,192 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9163:Ap3b2
|
UTSW |
7 |
81,113,546 (GRCm39) |
missense |
unknown |
|
|
R9304:Ap3b2
|
UTSW |
7 |
81,113,019 (GRCm39) |
missense |
unknown |
|
|
R9321:Ap3b2
|
UTSW |
7 |
81,114,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9413:Ap3b2
|
UTSW |
7 |
81,127,757 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9459:Ap3b2
|
UTSW |
7 |
81,123,651 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9746:Ap3b2
|
UTSW |
7 |
81,126,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Ap3b2
|
UTSW |
7 |
81,112,988 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0028:Ap3b2
|
UTSW |
7 |
81,113,512 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACTCATCATGCCAGAGATTAAG -3'
(R):5'- AGAGCTGCCCTGAGTATTGC -3'
Sequencing Primer
(F):5'- TGGGGAACTATGATGTCTCCAAACC -3'
(R):5'- AGCTGCCCTGAGTATTGCTTTCTAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation