Incidental Mutation 'R8325:Ap3b2'
| ID |
656549 |
| 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 |
067857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R8325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 81134237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
[ENSMUST00000152355]
|
| 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 |
probably null
Transcript: ENSMUST00000152355
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
T |
C |
15: 89,453,954 (GRCm39) |
V97A |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,258,119 (GRCm39) |
G1081D |
probably benign |
Het |
| Ang2 |
A |
G |
14: 51,432,960 (GRCm39) |
S141P |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,345,730 (GRCm39) |
T307S |
probably benign |
Het |
| Cadm2 |
T |
A |
16: 66,612,338 (GRCm39) |
N84Y |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,448 (GRCm39) |
C478R |
probably benign |
Het |
| Cep290 |
A |
C |
10: 100,353,670 (GRCm39) |
H801P |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,310,629 (GRCm39) |
Y555* |
probably null |
Het |
| Cmas |
T |
C |
6: 142,717,065 (GRCm39) |
|
probably null |
Het |
| Cmtm7 |
T |
C |
9: 114,592,415 (GRCm39) |
I61V |
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,651 (GRCm39) |
S236P |
possibly damaging |
Het |
| Dcp1b |
C |
T |
6: 119,192,397 (GRCm39) |
Q438* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,076,149 (GRCm39) |
Q678R |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,521 (GRCm39) |
M487K |
possibly damaging |
Het |
| Gm7361 |
T |
C |
5: 26,467,154 (GRCm39) |
S258P |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,183,548 (GRCm39) |
I96M |
probably benign |
Het |
| Ifi27l2a |
G |
A |
12: 103,409,144 (GRCm39) |
A49V |
unknown |
Het |
| Igkv10-96 |
T |
C |
6: 68,609,088 (GRCm39) |
Y69C |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,225,954 (GRCm39) |
V2573D |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,939,007 (GRCm39) |
N14S |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,759,975 (GRCm39) |
T94A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,032,394 (GRCm39) |
V324E |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,379 (GRCm39) |
K481E |
probably benign |
Het |
| Met |
A |
G |
6: 17,571,671 (GRCm39) |
E1330G |
probably damaging |
Het |
| Mroh1 |
GCCCAGGCCCC |
GCC |
15: 76,316,415 (GRCm39) |
|
probably null |
Het |
| Mss51 |
T |
C |
14: 20,534,771 (GRCm39) |
D333G |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,541,464 (GRCm39) |
V1933A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,338,796 (GRCm39) |
Y212C |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,521,608 (GRCm39) |
I104M |
probably benign |
Het |
| Npsr1 |
C |
T |
9: 24,198,118 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
A |
G |
9: 88,245,615 (GRCm39) |
E295G |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,124 (GRCm39) |
F103S |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,537 (GRCm39) |
L186Q |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,288,372 (GRCm39) |
T136A |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,063,867 (GRCm39) |
D177V |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,574,973 (GRCm39) |
S308C |
probably damaging |
Het |
| Pdhx |
G |
T |
2: 102,872,597 (GRCm39) |
P162T |
probably benign |
Het |
| Plin3 |
C |
T |
17: 56,593,268 (GRCm39) |
R98Q |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,271 (GRCm39) |
N1243S |
|
Het |
| Serpinb1b |
A |
T |
13: 33,277,584 (GRCm39) |
K272N |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,575,982 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,096,257 (GRCm39) |
M739K |
probably benign |
Het |
| Tbc1d9 |
G |
A |
8: 83,966,667 (GRCm39) |
|
probably null |
Het |
| Trp53inp1 |
A |
G |
4: 11,164,561 (GRCm39) |
D35G |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,952,524 (GRCm39) |
V549A |
probably damaging |
Het |
| Usp18 |
T |
C |
6: 121,230,769 (GRCm39) |
L66S |
probably damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,122,529 (GRCm39) |
S295N |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,941 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,625 (GRCm39) |
A764D |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,689,444 (GRCm39) |
I3031F |
|
Het |
| Wdr7 |
A |
G |
18: 63,911,535 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- CTGAGCCTGATCTTCCCAAC -3'
(R):5'- CCCTAAACTGGATGTGAATCGG -3'
Sequencing Primer
(F):5'- ACTTCTGCAAGTAGGCGAGGTC -3'
(R):5'- GGATTTGGGGGACACACTC -3'
|
| Posted On |
2020-12-17 |
Incidental Mutation