Incidental Mutation 'R7543:Ap3b2'
| ID |
585978 |
| 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 |
045615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
splice site (25 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 81115894 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,559,920 (GRCm39) |
S54T |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,266,615 (GRCm39) |
V59I |
|
Het |
| Acss2 |
A |
T |
2: 155,391,755 (GRCm39) |
I203F |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,083,207 (GRCm39) |
N435S |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,889,972 (GRCm39) |
D88G |
probably benign |
Het |
| Ajm1 |
C |
A |
2: 25,467,410 (GRCm39) |
A834S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,786,846 (GRCm39) |
T970M |
possibly damaging |
Het |
| Apc2 |
A |
G |
10: 80,150,720 (GRCm39) |
K1925E |
possibly damaging |
Het |
| Aspscr1 |
A |
G |
11: 120,600,249 (GRCm39) |
N130D |
unknown |
Het |
| B3glct |
A |
G |
5: 149,677,604 (GRCm39) |
D411G |
probably damaging |
Het |
| Bard1 |
T |
C |
1: 71,114,589 (GRCm39) |
K131E |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,609,066 (GRCm39) |
D120G |
probably damaging |
Het |
| Brms1l |
A |
T |
12: 55,914,997 (GRCm39) |
D302V |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,718,572 (GRCm39) |
Y56* |
probably null |
Het |
| Cela3a |
T |
A |
4: 137,129,883 (GRCm39) |
H246L |
probably damaging |
Het |
| Col11a2 |
A |
T |
17: 34,269,430 (GRCm39) |
D440V |
unknown |
Het |
| Cplane1 |
T |
C |
15: 8,254,876 (GRCm39) |
I21T |
unknown |
Het |
| Dag1 |
C |
T |
9: 108,095,280 (GRCm39) |
V71I |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,139 (GRCm39) |
S60P |
unknown |
Het |
| Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
| Dync1i1 |
T |
C |
6: 5,784,464 (GRCm39) |
S103P |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,822,753 (GRCm39) |
D755E |
probably damaging |
Het |
| Exosc8 |
T |
C |
3: 54,636,669 (GRCm39) |
T221A |
probably benign |
Het |
| Fbxo4 |
T |
C |
15: 4,007,385 (GRCm39) |
D93G |
probably damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,999 (GRCm39) |
V254A |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,341 (GRCm39) |
V281A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,086 (GRCm39) |
I774K |
probably benign |
Het |
| Gpr132 |
A |
C |
12: 112,815,822 (GRCm39) |
C335G |
probably benign |
Het |
| Gpr162 |
G |
T |
6: 124,838,355 (GRCm39) |
Y98* |
probably null |
Het |
| H2-T24 |
T |
C |
17: 36,325,743 (GRCm39) |
T283A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,186 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,486,199 (GRCm39) |
N53S |
possibly damaging |
Het |
| Iqcf3 |
T |
C |
9: 106,431,425 (GRCm39) |
K60R |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,413,993 (GRCm39) |
Y316* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,939,896 (GRCm39) |
K365E |
probably damaging |
Het |
| Lrguk |
T |
A |
6: 34,025,870 (GRCm39) |
L222* |
probably null |
Het |
| Mbd1 |
T |
G |
18: 74,407,520 (GRCm39) |
V210G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,499,155 (GRCm39) |
I90V |
not run |
Het |
| Muc16 |
A |
G |
9: 18,556,028 (GRCm39) |
S3422P |
unknown |
Het |
| Mynn |
G |
A |
3: 30,661,188 (GRCm39) |
W90* |
probably null |
Het |
| Or5p5 |
T |
A |
7: 107,414,308 (GRCm39) |
N172K |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,859,520 (GRCm39) |
H687Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,814,227 (GRCm39) |
E4199G |
probably damaging |
Het |
| Plekhg5 |
A |
G |
4: 152,192,491 (GRCm39) |
E517G |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,299,837 (GRCm39) |
D1644G |
probably damaging |
Het |
| Pon1 |
C |
T |
6: 5,168,400 (GRCm39) |
V336M |
possibly damaging |
Het |
| Pop1 |
T |
A |
15: 34,530,593 (GRCm39) |
L1027Q |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,124,993 (GRCm39) |
S306P |
probably damaging |
Het |
| Prpsap2 |
A |
T |
11: 61,635,797 (GRCm39) |
F168I |
possibly damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,359,444 (GRCm39) |
D2E |
probably damaging |
Het |
| Rgmb |
A |
T |
17: 16,027,777 (GRCm39) |
L314Q |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,653,317 (GRCm39) |
|
probably null |
Het |
| Samd4b |
A |
T |
7: 28,113,711 (GRCm39) |
S85T |
probably benign |
Het |
| Sfrp5 |
T |
C |
19: 42,187,302 (GRCm39) |
D256G |
possibly damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,365,106 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,786,905 (GRCm39) |
I589T |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,546,848 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 75,953,616 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,495,503 (GRCm39) |
A107V |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,290 (GRCm39) |
E43A |
probably damaging |
Het |
| Tex50 |
G |
T |
1: 160,984,817 (GRCm39) |
T141K |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,979 (GRCm39) |
L527P |
probably benign |
Het |
| Tns4 |
T |
A |
11: 98,963,079 (GRCm39) |
D547V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,268,312 (GRCm39) |
S65P |
probably damaging |
Het |
| Trdc |
T |
A |
14: 54,381,692 (GRCm39) |
S126T |
|
Het |
| Ttc27 |
A |
T |
17: 75,024,745 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,083,925 (GRCm39) |
I787S |
probably benign |
Het |
| Zc3h11a |
T |
C |
1: 133,554,768 (GRCm39) |
D404G |
possibly damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,534 (GRCm39) |
I244T |
probably benign |
Het |
| Zfp93 |
A |
G |
7: 23,974,533 (GRCm39) |
T173A |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,495,953 (GRCm39) |
L29F |
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 |
|
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 |
|
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'- AAAGGATCTGGGCACAGCAC -3'
(R):5'- GTACCCAGTTTTAGCCAGGAAAC -3'
Sequencing Primer
(F):5'- ATCTGGGCACAGCACACAGG -3'
(R):5'- TTTAGCCAGGAAACAAATACCCTTG -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation