Incidental Mutation 'R8111:Ap3b2'
| ID |
630870 |
| 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 |
067540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R8111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81113530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 893
(I893T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000082090
AA Change: I893T
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: I893T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 93.2%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,382,266 (GRCm39) |
W1233* |
probably null |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,691 (GRCm39) |
I247V |
probably benign |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,077 (GRCm39) |
C50S |
unknown |
Het |
| Adam29 |
T |
G |
8: 56,324,585 (GRCm39) |
H623P |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,203 (GRCm39) |
V318A |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,614,058 (GRCm39) |
D215G |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,801 (GRCm39) |
A2428T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,301,674 (GRCm39) |
V660A |
probably benign |
Het |
| Atf7 |
G |
T |
15: 102,471,769 (GRCm39) |
T42K |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,366 (GRCm39) |
I160N |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,832,786 (GRCm39) |
V429A |
possibly damaging |
Het |
| Bpifb3 |
A |
C |
2: 153,764,609 (GRCm39) |
H167P |
probably benign |
Het |
| Cacna1f |
G |
T |
X: 7,487,326 (GRCm39) |
E921D |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,769,713 (GRCm39) |
L713F |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,494,526 (GRCm39) |
E385K |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,967,306 (GRCm39) |
V3186I |
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,448,185 (GRCm39) |
D349E |
probably benign |
Het |
| Dlg1 |
C |
T |
16: 31,661,620 (GRCm39) |
T657M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,148,688 (GRCm39) |
I919V |
probably benign |
Het |
| Dync2i2 |
C |
A |
2: 29,921,859 (GRCm39) |
A501S |
possibly damaging |
Het |
| Eml5 |
A |
G |
12: 98,758,773 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
A |
17: 87,125,860 (GRCm39) |
S286* |
probably null |
Het |
| Fat1 |
G |
A |
8: 45,479,095 (GRCm39) |
V2714I |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,390,545 (GRCm39) |
M447T |
probably benign |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
A |
C |
17: 57,410,427 (GRCm39) |
C24G |
probably null |
Het |
| Gm6176 |
T |
A |
7: 21,750,593 (GRCm39) |
I113F |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpat2 |
G |
T |
2: 127,275,777 (GRCm39) |
L518F |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hgsnat |
C |
T |
8: 26,458,440 (GRCm39) |
V195I |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,955,583 (GRCm39) |
S1300T |
probably damaging |
Het |
| Hs3st2 |
A |
T |
7: 120,992,362 (GRCm39) |
H137L |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,122,781 (GRCm39) |
S188P |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,654,225 (GRCm39) |
D684G |
probably damaging |
Het |
| Lrba |
C |
A |
3: 86,235,012 (GRCm39) |
N852K |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,930 (GRCm39) |
S425P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,674,003 (GRCm39) |
S562T |
possibly damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,064 (GRCm39) |
V380A |
probably benign |
Het |
| Mgat4d |
A |
T |
8: 84,094,776 (GRCm39) |
N271I |
probably damaging |
Het |
| Mmp24 |
T |
A |
2: 155,649,345 (GRCm39) |
V254E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,503,925 (GRCm39) |
R6455S |
possibly damaging |
Het |
| Npffr1 |
T |
A |
10: 61,459,128 (GRCm39) |
V127E |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,541 (GRCm39) |
N165K |
probably damaging |
Het |
| Or10g3b |
G |
A |
14: 52,587,344 (GRCm39) |
T53M |
possibly damaging |
Het |
| Otulin |
A |
C |
15: 27,606,381 (GRCm39) |
V344G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,180,229 (GRCm39) |
D1030G |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Ppp2r3c |
C |
A |
12: 55,344,634 (GRCm39) |
M111I |
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,494,747 (GRCm39) |
T13A |
probably benign |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sgo2b |
T |
A |
8: 64,396,138 (GRCm39) |
K39N |
probably damaging |
Het |
| Sike1 |
T |
C |
3: 102,909,123 (GRCm39) |
*208Q |
probably null |
Het |
| Spire1 |
A |
G |
18: 67,652,391 (GRCm39) |
S229P |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,857 (GRCm39) |
I132V |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,190,792 (GRCm39) |
V213A |
probably damaging |
Het |
| Washc1 |
C |
G |
17: 66,423,033 (GRCm39) |
Q116E |
probably benign |
Het |
| Zfp553 |
T |
A |
7: 126,836,093 (GRCm39) |
C549* |
probably null |
Het |
| Zfp9 |
G |
A |
6: 118,441,561 (GRCm39) |
P367L |
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 |
|
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 |
|
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'- ACCTCTGTTTCCTTACAGCAAG -3'
(R):5'- GATGGGCCTCACTATCCTTTGC -3'
Sequencing Primer
(F):5'- CCTGGTTTGATCCCAAGAGG -3'
(R):5'- ACTATCCTTTGCCTTTTCTCTGCATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation