Incidental Mutation 'R0317:Ap3b2'
| ID |
25454 |
| 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 |
038527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R0317 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 81113429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
probably null
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: ENSMUST00000147624
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,243,459 (GRCm39) |
V1774A |
probably damaging |
Het |
| Adam34 |
G |
A |
8: 44,105,288 (GRCm39) |
P119L |
probably benign |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,122,697 (GRCm39) |
|
probably null |
Het |
| Cab39 |
A |
G |
1: 85,776,881 (GRCm39) |
E322G |
probably damaging |
Het |
| Cad |
C |
A |
5: 31,229,665 (GRCm39) |
P1382Q |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,864,243 (GRCm39) |
|
probably null |
Het |
| Cela2a |
A |
T |
4: 141,549,011 (GRCm39) |
|
probably null |
Het |
| Cert1 |
C |
T |
13: 96,770,629 (GRCm39) |
R487* |
probably null |
Het |
| Ces1e |
A |
C |
8: 93,950,667 (GRCm39) |
I38S |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,990,019 (GRCm39) |
F364I |
probably benign |
Het |
| Chgb |
A |
G |
2: 132,635,731 (GRCm39) |
T558A |
probably benign |
Het |
| Cnpy4 |
C |
T |
5: 138,191,074 (GRCm39) |
Q217* |
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,951,249 (GRCm39) |
T43A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,173,816 (GRCm39) |
M707K |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,513,193 (GRCm39) |
S123N |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,394,933 (GRCm39) |
F304S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,745 (GRCm39) |
R120H |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,242,459 (GRCm39) |
T96A |
probably benign |
Het |
| Ggn |
T |
A |
7: 28,870,515 (GRCm39) |
M1K |
probably null |
Het |
| Gm5239 |
A |
G |
18: 35,669,969 (GRCm39) |
T112A |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,826 (GRCm39) |
D289E |
possibly damaging |
Het |
| Kifbp |
A |
T |
10: 62,413,861 (GRCm39) |
|
probably null |
Het |
| Lrrc15 |
A |
T |
16: 30,092,561 (GRCm39) |
H259Q |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,876,045 (GRCm39) |
Y236C |
probably damaging |
Het |
| Med29 |
T |
C |
7: 28,086,284 (GRCm39) |
T175A |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,108,338 (GRCm39) |
L1308P |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,636,388 (GRCm39) |
|
probably null |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pgm5 |
A |
G |
19: 24,801,763 (GRCm39) |
I155T |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Phactr4 |
T |
A |
4: 132,114,241 (GRCm39) |
K51I |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Rab11a |
A |
G |
9: 64,632,835 (GRCm39) |
S24P |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,666,799 (GRCm39) |
Q160R |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,813,772 (GRCm39) |
D339G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,453,395 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
G |
5: 125,366,756 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,182 (GRCm39) |
V85M |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,335,584 (GRCm39) |
I291V |
possibly damaging |
Het |
| Slco3a1 |
A |
C |
7: 74,154,174 (GRCm39) |
Y104D |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
| Tlr1 |
G |
T |
5: 65,083,310 (GRCm39) |
C422* |
probably null |
Het |
| Tmco1 |
T |
C |
1: 167,153,462 (GRCm39) |
V114A |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,951,856 (GRCm39) |
T948A |
probably benign |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Ufsp2 |
G |
A |
8: 46,445,270 (GRCm39) |
|
probably null |
Het |
| Veph1 |
T |
C |
3: 66,079,396 (GRCm39) |
D373G |
probably benign |
Het |
| Vmn1r206 |
A |
G |
13: 22,805,130 (GRCm39) |
S26P |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,159,630 (GRCm39) |
S612P |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,527 (GRCm39) |
K130E |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,957,602 (GRCm39) |
C628Y |
possibly 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 |
|
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 |
|
|
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'- AATGTGCTCAAAGACCTCCTGCC -3'
(R):5'- TCTCTAGCTGCTGAGTCCAGTGTC -3'
Sequencing Primer
(F):5'- CCTGCCCTAATAGGAACTTGC -3'
(R):5'- CAGTGTCCAGCATTGGGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation