Incidental Mutation 'R4209:Ap3b2'
| ID |
319068 |
| 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 |
041038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 81126884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 289
(A289S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
[ENSMUST00000152355]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082090
AA Change: A289S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: A289S
| 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: ENSMUST00000119121
|
| SMART Domains |
Protein: ENSMUSP00000114032
Gene: ENSMUSG00000062444
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
34 |
122 |
5.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152355
AA Change: A289S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.1015 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
| Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
| Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,616 (GRCm39) |
K323E |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
| Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,410,809 (GRCm39) |
S378P |
probably benign |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Irf8 |
T |
A |
8: 121,480,208 (GRCm39) |
Y149N |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,505 (GRCm39) |
I30T |
probably benign |
Het |
| Slc22a21 |
A |
G |
11: 53,846,881 (GRCm39) |
S331P |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
| Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
|
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 |
|
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'- TTAGCCAAACAGCTGGGAGG -3'
(R):5'- AGAATGTGAGCACGAGGTTC -3'
Sequencing Primer
(F):5'- CAGGGCTCTCTGTACCTGTG -3'
(R):5'- TGTGAGCACGAGGTTCCCAAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation