Incidental Mutation 'R6981:Ap3b2'
| ID |
542679 |
| 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 |
045089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81127741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 145
(I145T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
[ENSMUST00000152355]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082090
AA Change: I145T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: I145T
| 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 |
probably damaging
Transcript: ENSMUST00000152355
AA Change: I145T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
99% (68/69) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,184,544 (GRCm39) |
|
probably benign |
Het |
| 5031439G07Rik |
A |
C |
15: 84,833,798 (GRCm39) |
Y419* |
probably null |
Het |
| Abca2 |
T |
A |
2: 25,334,151 (GRCm39) |
F1809L |
probably damaging |
Het |
| Ache |
C |
T |
5: 137,289,940 (GRCm39) |
T423I |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,036,226 (GRCm39) |
T395A |
probably damaging |
Het |
| Arhgef4 |
A |
C |
1: 34,761,533 (GRCm39) |
Q263P |
unknown |
Het |
| Asgr2 |
C |
T |
11: 69,987,636 (GRCm39) |
L45F |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,222,389 (GRCm39) |
Y122F |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,185,650 (GRCm39) |
|
probably null |
Het |
| Carns1 |
T |
C |
19: 4,220,081 (GRCm39) |
T385A |
probably benign |
Het |
| Ccdc47 |
T |
C |
11: 106,093,563 (GRCm39) |
T41A |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,797,998 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,439,297 (GRCm39) |
T148I |
probably benign |
Het |
| Cep85 |
C |
T |
4: 133,879,572 (GRCm39) |
R392Q |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,080,123 (GRCm39) |
T464A |
unknown |
Het |
| Cfl1 |
T |
A |
19: 5,542,644 (GRCm39) |
S41R |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,055,442 (GRCm39) |
V76A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,794,385 (GRCm39) |
T707A |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,865,182 (GRCm39) |
C53* |
probably null |
Het |
| Dhx34 |
G |
T |
7: 15,949,255 (GRCm39) |
A391E |
possibly damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,697 (GRCm39) |
N201K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 72,998,161 (GRCm39) |
E4087G |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,756,846 (GRCm39) |
Y134C |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,121,708 (GRCm39) |
V662A |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,530 (GRCm39) |
F12L |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,995,237 (GRCm39) |
E548G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,819,798 (GRCm39) |
D562G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,805,403 (GRCm39) |
I92V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,640,991 (GRCm39) |
R34G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 117,861,960 (GRCm39) |
I292T |
probably damaging |
Het |
| Gpr15 |
T |
A |
16: 58,538,548 (GRCm39) |
K180N |
probably benign |
Het |
| Gtf2ird1 |
G |
T |
5: 134,412,776 (GRCm39) |
|
probably benign |
Het |
| H2ac12 |
A |
G |
13: 22,219,719 (GRCm39) |
S2P |
probably benign |
Het |
| Hps3 |
T |
A |
3: 20,076,984 (GRCm39) |
T393S |
probably damaging |
Het |
| Hspa1a |
A |
T |
17: 35,189,267 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,257,704 (GRCm39) |
E2378G |
possibly damaging |
Het |
| Ighv1-18 |
A |
G |
12: 114,646,298 (GRCm39) |
L102P |
probably damaging |
Het |
| Itga5 |
T |
A |
15: 103,258,653 (GRCm39) |
N814I |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,780,480 (GRCm39) |
S451P |
probably damaging |
Het |
| Klhl32 |
T |
G |
4: 24,709,030 (GRCm39) |
I112L |
probably damaging |
Het |
| Knstrn |
T |
G |
2: 118,664,575 (GRCm39) |
I47R |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,771,722 (GRCm39) |
S581T |
possibly damaging |
Het |
| Mgat5 |
C |
T |
1: 127,318,588 (GRCm39) |
T361I |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,206,858 (GRCm39) |
V112A |
probably damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,956 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,697 (GRCm39) |
F71L |
probably benign |
Het |
| Or5g27 |
A |
G |
2: 85,409,825 (GRCm39) |
M81V |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,970,766 (GRCm39) |
Q528* |
probably null |
Het |
| Proser2 |
T |
C |
2: 6,118,801 (GRCm39) |
D14G |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,415,878 (GRCm39) |
I1745L |
probably benign |
Het |
| Rxfp2 |
G |
T |
5: 149,972,313 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,723,051 (GRCm39) |
S278G |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,823,179 (GRCm39) |
I455T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,407,557 (GRCm39) |
L3188P |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,574,059 (GRCm39) |
A51D |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,502,768 (GRCm39) |
N12S |
possibly damaging |
Het |
| Tmem17 |
T |
A |
11: 22,468,508 (GRCm39) |
I149N |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,976 (GRCm39) |
V58A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,691,521 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,808 (GRCm39) |
S339P |
probably benign |
Het |
| Vmn1r16 |
T |
A |
6: 57,300,473 (GRCm39) |
I50L |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,739 (GRCm39) |
Y177F |
probably benign |
Het |
| Zfp28 |
C |
A |
7: 6,397,692 (GRCm39) |
T709K |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,676,170 (GRCm39) |
N46S |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,327,291 (GRCm39) |
V30E |
unknown |
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 |
|
R3421:Ap3b2
|
UTSW |
7 |
81,123,598 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
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'- CTTATTCCAGACGAGAAGCAGC -3'
(R):5'- AAGCTAGCCCTTGTCAGGAG -3'
Sequencing Primer
(F):5'- CCTGCAAAACCGTGGTAAGGTC -3'
(R):5'- CTAGCCCTTGTCAGGAGGTAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation