Incidental Mutation 'R1489:Ap3b2'
| ID |
163599 |
| 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 |
039541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1489 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 81113438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 924
(E924*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082090
AA Change: E924*
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: E924*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
96% (52/54) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,106,295 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4930522H14Rik |
T |
C |
4: 109,362,654 (GRCm39) |
K218E |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,736,300 (GRCm39) |
|
probably null |
Het |
| Adam39 |
A |
G |
8: 41,278,031 (GRCm39) |
T141A |
possibly damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,071 (GRCm39) |
S629R |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,314,858 (GRCm39) |
Y856F |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,044,579 (GRCm39) |
L142P |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,162,734 (GRCm39) |
D427V |
probably damaging |
Het |
| Atl2 |
G |
A |
17: 80,160,135 (GRCm39) |
A17V |
probably benign |
Het |
| Atxn2l |
A |
T |
7: 126,095,639 (GRCm39) |
S379T |
probably damaging |
Het |
| C1ql3 |
G |
T |
2: 13,015,453 (GRCm39) |
P69Q |
possibly damaging |
Het |
| Cap2 |
A |
T |
13: 46,763,111 (GRCm39) |
I114F |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,950 (GRCm39) |
F1383L |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,100,667 (GRCm39) |
I144V |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,521,389 (GRCm39) |
N135S |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,108,234 (GRCm39) |
H180Q |
possibly damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,424,835 (GRCm39) |
Y73* |
probably null |
Het |
| Duox2 |
T |
A |
2: 122,123,877 (GRCm39) |
M436L |
probably benign |
Het |
| Exoc6 |
T |
A |
19: 37,585,568 (GRCm39) |
M481K |
possibly damaging |
Het |
| Fbxw2 |
GCCCCC |
GCCCCCCCC |
2: 34,702,829 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,195,557 (GRCm39) |
V419E |
unknown |
Het |
| Fndc4 |
T |
C |
5: 31,450,795 (GRCm39) |
*232W |
probably null |
Het |
| Foxc1 |
C |
T |
13: 31,992,595 (GRCm39) |
R469* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,810,155 (GRCm39) |
H2158R |
probably benign |
Het |
| Ghdc |
C |
T |
11: 100,659,083 (GRCm39) |
G373D |
probably benign |
Het |
| Gm10330 |
A |
T |
12: 23,830,032 (GRCm39) |
S50T |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,690,108 (GRCm39) |
V650A |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,130,918 (GRCm39) |
V578A |
possibly damaging |
Het |
| Mbd3 |
C |
G |
10: 80,229,740 (GRCm39) |
D190H |
probably damaging |
Het |
| Mcpt9 |
T |
C |
14: 56,264,976 (GRCm39) |
K175R |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,120,121 (GRCm39) |
S85P |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,261,595 (GRCm39) |
F403L |
probably damaging |
Het |
| Nox4 |
A |
G |
7: 86,954,097 (GRCm39) |
Y134C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,217 (GRCm39) |
L642P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,099,185 (GRCm39) |
Y568F |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,593 (GRCm39) |
L333P |
probably benign |
Het |
| Prl |
A |
T |
13: 27,241,619 (GRCm39) |
S3C |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,047,824 (GRCm39) |
T60A |
possibly damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,205,761 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,058,891 (GRCm39) |
E1942G |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,479 (GRCm39) |
Y66C |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,510,524 (GRCm39) |
Y232* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,839,405 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,521,164 (GRCm39) |
V907A |
probably damaging |
Het |
| Vmn1r174 |
C |
T |
7: 23,453,981 (GRCm39) |
Q216* |
probably null |
Het |
| Zswim3 |
T |
C |
2: 164,661,901 (GRCm39) |
V127A |
probably benign |
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 |
|
|
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'- AATGTGCTCAAAGACCTCCTGCCC -3'
(R):5'- TCTCTAGCTGCTGAGTCCAGTGTC -3'
Sequencing Primer
(F):5'- CCTGCCCTAATAGGAACTTGC -3'
(R):5'- CAGTGTCCAGCATTGGGAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation