Incidental Mutation 'R5207:Ap3b2'
| ID |
402083 |
| 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 |
042782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5207 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
81110147-81143673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81126517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 361
(N361S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082090]
[ENSMUST00000152355]
|
| AlphaFold |
Q9JME5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082090
AA Change: N361S
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: N361S
| 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: ENSMUST00000119121
|
| SMART Domains |
Protein: ENSMUSP00000114032
Gene: ENSMUSG00000062444
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
34 |
122 |
5.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152355
AA Change: N361S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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 |
|---|
| Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
| Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
| Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
| Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
| Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,589,060 (GRCm39) |
R808G |
unknown |
Het |
| Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
| Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
| Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
| Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
| Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
| Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
| Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
A |
T |
6: 145,124,794 (GRCm39) |
D510E |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
| Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
| Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
| Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
| Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
| Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
| Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
| Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
| Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
| Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
| Nes |
G |
A |
3: 87,885,935 (GRCm39) |
G1398E |
probably damaging |
Het |
| Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
| Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,629,966 (GRCm39) |
K683E |
probably damaging |
Het |
| Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
| Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
| Snx29 |
A |
T |
16: 11,556,227 (GRCm39) |
I753F |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
| Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
| Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
| Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,350,951 (GRCm39) |
V15E |
probably damaging |
Het |
| Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
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 |
|
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 |
|
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'- ATGGCCCCTTCAGGATCTAG -3'
(R):5'- TACTTCCACCTAGCGCCTAAG -3'
Sequencing Primer
(F):5'- TTCAGGATCTAGACCCGGCTC -3'
(R):5'- CACAGGTACAGAGAGCCCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation