Incidental Mutation 'R1660:Ap3b1'
ID |
186688 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap3b1
|
Ensembl Gene |
ENSMUSG00000021686 |
Gene Name |
adaptor-related protein complex 3, beta 1 subunit |
Synonyms |
AP-3, Hps2, beta3A, rim2, recombination induced mutation 2 |
MMRRC Submission |
039696-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R1660 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94545320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 191
(V191A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
AlphaFold |
Q9Z1T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022196
AA Change: V191A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022196 Gene: ENSMUSG00000021686 AA Change: V191A
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
Pfam:Adaptin_N
|
39 |
586 |
1.2e-170 |
PFAM |
Pfam:SEEEED
|
672 |
812 |
1.3e-27 |
PFAM |
AP3B1_C
|
822 |
969 |
1.58e-78 |
SMART |
Blast:B2
|
993 |
1103 |
2e-27 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] PHENOTYPE: Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. [provided by MGI curators]
|
Allele List at MGI |
All alleles(53) : Targeted(4) Gene trapped(34) Spontaneous(14) Chemically induced(1)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
A |
19: 31,870,507 (GRCm39) |
S3* |
probably null |
Het |
Adgrv1 |
C |
T |
13: 81,624,750 (GRCm39) |
V3740I |
probably benign |
Het |
Aida |
T |
C |
1: 183,079,127 (GRCm39) |
F22S |
probably damaging |
Het |
Ankrd65 |
A |
T |
4: 155,876,528 (GRCm39) |
D220V |
probably damaging |
Het |
Antxr2 |
A |
T |
5: 98,123,209 (GRCm39) |
C279* |
probably null |
Het |
Arhgef28 |
T |
C |
13: 98,117,884 (GRCm39) |
K595E |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,608,305 (GRCm39) |
T98A |
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,014,427 (GRCm39) |
S116T |
probably benign |
Het |
Chrm1 |
T |
C |
19: 8,656,582 (GRCm39) |
F429S |
possibly damaging |
Het |
Ckap5 |
C |
A |
2: 91,393,303 (GRCm39) |
Q395K |
possibly damaging |
Het |
Cntn4 |
T |
A |
6: 106,656,258 (GRCm39) |
I853K |
probably benign |
Het |
Cyp2g1 |
G |
A |
7: 26,509,107 (GRCm39) |
|
probably null |
Het |
Dhx57 |
C |
T |
17: 80,553,157 (GRCm39) |
V1257I |
possibly damaging |
Het |
Disp1 |
A |
T |
1: 182,869,306 (GRCm39) |
V1038D |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,358,314 (GRCm39) |
S462T |
possibly damaging |
Het |
Dnaaf10 |
A |
T |
11: 17,177,183 (GRCm39) |
E180D |
probably benign |
Het |
Exoc3l |
A |
G |
8: 106,019,692 (GRCm39) |
|
probably null |
Het |
Fam210a |
T |
C |
18: 68,409,167 (GRCm39) |
T48A |
probably benign |
Het |
Fbxw5 |
G |
A |
2: 25,393,286 (GRCm39) |
|
probably null |
Het |
Fkbp9 |
T |
C |
6: 56,850,434 (GRCm39) |
C437R |
probably damaging |
Het |
Gpc5 |
A |
G |
14: 115,636,691 (GRCm39) |
K458R |
probably benign |
Het |
Grik2 |
C |
A |
10: 49,120,439 (GRCm39) |
G56* |
probably null |
Het |
Igsf10 |
T |
C |
3: 59,238,706 (GRCm39) |
T492A |
probably damaging |
Het |
Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
Lrrc51 |
T |
C |
7: 101,562,645 (GRCm39) |
Y145C |
probably damaging |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Mapkbp1 |
A |
T |
2: 119,849,029 (GRCm39) |
I682F |
possibly damaging |
Het |
Mttp |
A |
T |
3: 137,808,954 (GRCm39) |
V718D |
probably damaging |
Het |
Myt1l |
T |
A |
12: 29,945,272 (GRCm39) |
D1012E |
unknown |
Het |
Nbn |
G |
A |
4: 15,971,771 (GRCm39) |
G301D |
probably benign |
Het |
Ncstn |
T |
A |
1: 171,894,339 (GRCm39) |
S677C |
possibly damaging |
Het |
Nod1 |
C |
A |
6: 54,921,218 (GRCm39) |
|
probably null |
Het |
Nos1ap |
A |
G |
1: 170,342,206 (GRCm39) |
V52A |
possibly damaging |
Het |
Or51f2 |
T |
G |
7: 102,526,863 (GRCm39) |
Y179D |
probably damaging |
Het |
Or52z14 |
T |
A |
7: 103,252,882 (GRCm39) |
L7* |
probably null |
Het |
Or5b98 |
T |
A |
19: 12,931,055 (GRCm39) |
I34N |
probably damaging |
Het |
Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
Phf13 |
T |
C |
4: 152,076,962 (GRCm39) |
I77V |
probably benign |
Het |
Pias2 |
A |
G |
18: 77,207,825 (GRCm39) |
K230E |
probably damaging |
Het |
Poli |
A |
G |
18: 70,642,535 (GRCm39) |
L469P |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,607,177 (GRCm39) |
T973S |
possibly damaging |
Het |
Prpf40b |
C |
A |
15: 99,203,442 (GRCm39) |
H101Q |
probably damaging |
Het |
Prss50 |
T |
C |
9: 110,691,557 (GRCm39) |
V287A |
possibly damaging |
Het |
Rbm25 |
C |
T |
12: 83,714,924 (GRCm39) |
|
probably benign |
Het |
Rcor2 |
T |
C |
19: 7,246,337 (GRCm39) |
V4A |
probably damaging |
Het |
Rnf180 |
T |
C |
13: 105,407,499 (GRCm39) |
T17A |
probably benign |
Het |
Robo3 |
A |
T |
9: 37,340,440 (GRCm39) |
V179E |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,446,458 (GRCm39) |
S2835T |
probably damaging |
Het |
Serpinb3c |
T |
A |
1: 107,199,432 (GRCm39) |
H363L |
probably damaging |
Het |
Setd1a |
T |
C |
7: 127,395,841 (GRCm39) |
|
probably benign |
Het |
Skp2 |
A |
C |
15: 9,125,201 (GRCm39) |
V126G |
probably benign |
Het |
Snph |
G |
A |
2: 151,436,398 (GRCm39) |
Q108* |
probably null |
Het |
Snrpa1 |
T |
A |
7: 65,719,246 (GRCm39) |
V144E |
probably damaging |
Het |
Tifab |
T |
C |
13: 56,324,248 (GRCm39) |
E65G |
probably damaging |
Het |
Tmem201 |
A |
T |
4: 149,804,032 (GRCm39) |
Y468N |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,687,580 (GRCm39) |
N388S |
possibly damaging |
Het |
Tssk4 |
A |
G |
14: 55,888,029 (GRCm39) |
Q75R |
probably null |
Het |
Tuba4a |
T |
C |
1: 75,192,547 (GRCm39) |
N356D |
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,287,477 (GRCm39) |
D230V |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,648,261 (GRCm39) |
V4622A |
probably benign |
Het |
Vmn2r11 |
T |
G |
5: 109,201,724 (GRCm39) |
Y260S |
possibly damaging |
Het |
Vmn2r89 |
C |
A |
14: 51,693,693 (GRCm39) |
H348N |
possibly damaging |
Het |
Vmn2r96 |
A |
T |
17: 18,817,988 (GRCm39) |
M714L |
probably benign |
Het |
Zbtb18 |
T |
C |
1: 177,275,329 (GRCm39) |
S221P |
probably benign |
Het |
Zfp418 |
A |
G |
7: 7,184,789 (GRCm39) |
T251A |
probably benign |
Het |
Zmynd15 |
A |
G |
11: 70,354,328 (GRCm39) |
Y267C |
probably damaging |
Het |
|
Other mutations in Ap3b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00660:Ap3b1
|
APN |
13 |
94,527,371 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00766:Ap3b1
|
APN |
13 |
94,679,392 (GRCm39) |
splice site |
probably benign |
|
IGL01784:Ap3b1
|
APN |
13 |
94,630,247 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01979:Ap3b1
|
APN |
13 |
94,584,971 (GRCm39) |
nonsense |
probably null |
|
IGL02040:Ap3b1
|
APN |
13 |
94,545,353 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02119:Ap3b1
|
APN |
13 |
94,598,911 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02247:Ap3b1
|
APN |
13 |
94,531,303 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02303:Ap3b1
|
APN |
13 |
94,664,827 (GRCm39) |
missense |
unknown |
|
IGL02493:Ap3b1
|
APN |
13 |
94,540,528 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02551:Ap3b1
|
APN |
13 |
94,554,599 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02651:Ap3b1
|
APN |
13 |
94,613,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02832:Ap3b1
|
APN |
13 |
94,664,835 (GRCm39) |
missense |
unknown |
|
IGL03033:Ap3b1
|
APN |
13 |
94,585,003 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03101:Ap3b1
|
APN |
13 |
94,591,906 (GRCm39) |
missense |
probably benign |
0.00 |
bella
|
UTSW |
13 |
94,664,765 (GRCm39) |
missense |
unknown |
|
bullet_gray
|
UTSW |
13 |
94,587,594 (GRCm39) |
critical splice donor site |
probably benign |
|
cuttlefish
|
UTSW |
13 |
94,584,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
Gastropod
|
UTSW |
13 |
94,679,348 (GRCm39) |
missense |
unknown |
|
razor
|
UTSW |
13 |
94,630,239 (GRCm39) |
missense |
unknown |
|
Slime
|
UTSW |
13 |
94,540,586 (GRCm39) |
missense |
possibly damaging |
0.51 |
slug
|
UTSW |
13 |
94,545,353 (GRCm39) |
critical splice donor site |
probably null |
|
snail
|
UTSW |
13 |
94,616,393 (GRCm39) |
splice site |
probably benign |
|
stalk
|
UTSW |
13 |
94,609,439 (GRCm39) |
critical splice donor site |
probably null |
|
R0034:Ap3b1
|
UTSW |
13 |
94,616,393 (GRCm39) |
splice site |
probably benign |
|
R0265:Ap3b1
|
UTSW |
13 |
94,630,189 (GRCm39) |
missense |
unknown |
|
R0270:Ap3b1
|
UTSW |
13 |
94,540,626 (GRCm39) |
splice site |
probably benign |
|
R0346:Ap3b1
|
UTSW |
13 |
94,582,479 (GRCm39) |
nonsense |
probably null |
|
R0422:Ap3b1
|
UTSW |
13 |
94,598,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R0496:Ap3b1
|
UTSW |
13 |
94,609,446 (GRCm39) |
splice site |
probably benign |
|
R0508:Ap3b1
|
UTSW |
13 |
94,702,222 (GRCm39) |
missense |
unknown |
|
R0764:Ap3b1
|
UTSW |
13 |
94,616,387 (GRCm39) |
splice site |
probably benign |
|
R1506:Ap3b1
|
UTSW |
13 |
94,582,651 (GRCm39) |
splice site |
probably benign |
|
R1593:Ap3b1
|
UTSW |
13 |
94,638,435 (GRCm39) |
missense |
unknown |
|
R1735:Ap3b1
|
UTSW |
13 |
94,630,225 (GRCm39) |
missense |
unknown |
|
R1791:Ap3b1
|
UTSW |
13 |
94,545,305 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1818:Ap3b1
|
UTSW |
13 |
94,608,212 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2280:Ap3b1
|
UTSW |
13 |
94,664,724 (GRCm39) |
missense |
unknown |
|
R3031:Ap3b1
|
UTSW |
13 |
94,702,151 (GRCm39) |
missense |
unknown |
|
R3037:Ap3b1
|
UTSW |
13 |
94,582,486 (GRCm39) |
critical splice donor site |
probably null |
|
R4401:Ap3b1
|
UTSW |
13 |
94,554,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Ap3b1
|
UTSW |
13 |
94,554,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R4403:Ap3b1
|
UTSW |
13 |
94,554,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R4532:Ap3b1
|
UTSW |
13 |
94,702,243 (GRCm39) |
missense |
unknown |
|
R4624:Ap3b1
|
UTSW |
13 |
94,619,734 (GRCm39) |
missense |
unknown |
|
R4626:Ap3b1
|
UTSW |
13 |
94,540,586 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4754:Ap3b1
|
UTSW |
13 |
94,540,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R4788:Ap3b1
|
UTSW |
13 |
94,702,149 (GRCm39) |
missense |
unknown |
|
R4847:Ap3b1
|
UTSW |
13 |
94,608,287 (GRCm39) |
missense |
probably benign |
0.15 |
R4886:Ap3b1
|
UTSW |
13 |
94,609,313 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5096:Ap3b1
|
UTSW |
13 |
94,616,357 (GRCm39) |
missense |
unknown |
|
R5628:Ap3b1
|
UTSW |
13 |
94,613,556 (GRCm39) |
missense |
unknown |
|
R5671:Ap3b1
|
UTSW |
13 |
94,664,765 (GRCm39) |
missense |
unknown |
|
R5677:Ap3b1
|
UTSW |
13 |
94,664,704 (GRCm39) |
missense |
unknown |
|
R5862:Ap3b1
|
UTSW |
13 |
94,684,278 (GRCm39) |
missense |
unknown |
|
R5941:Ap3b1
|
UTSW |
13 |
94,619,773 (GRCm39) |
missense |
probably damaging |
0.96 |
R5941:Ap3b1
|
UTSW |
13 |
94,576,781 (GRCm39) |
missense |
probably benign |
0.02 |
R6043:Ap3b1
|
UTSW |
13 |
94,613,501 (GRCm39) |
missense |
probably benign |
0.09 |
R6212:Ap3b1
|
UTSW |
13 |
94,630,207 (GRCm39) |
missense |
unknown |
|
R6212:Ap3b1
|
UTSW |
13 |
94,587,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R6301:Ap3b1
|
UTSW |
13 |
94,664,803 (GRCm39) |
missense |
unknown |
|
R6765:Ap3b1
|
UTSW |
13 |
94,599,017 (GRCm39) |
missense |
probably benign |
0.02 |
R6812:Ap3b1
|
UTSW |
13 |
94,616,369 (GRCm39) |
missense |
unknown |
|
R6888:Ap3b1
|
UTSW |
13 |
94,545,299 (GRCm39) |
missense |
probably benign |
0.42 |
R6901:Ap3b1
|
UTSW |
13 |
94,554,650 (GRCm39) |
missense |
probably benign |
0.00 |
R7157:Ap3b1
|
UTSW |
13 |
94,668,542 (GRCm39) |
nonsense |
probably null |
|
R7422:Ap3b1
|
UTSW |
13 |
94,664,673 (GRCm39) |
missense |
unknown |
|
R7642:Ap3b1
|
UTSW |
13 |
94,613,540 (GRCm39) |
missense |
probably benign |
0.19 |
R7710:Ap3b1
|
UTSW |
13 |
94,587,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7757:Ap3b1
|
UTSW |
13 |
94,664,666 (GRCm39) |
splice site |
probably null |
|
R7867:Ap3b1
|
UTSW |
13 |
94,619,771 (GRCm39) |
missense |
unknown |
|
R8492:Ap3b1
|
UTSW |
13 |
94,531,294 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8706:Ap3b1
|
UTSW |
13 |
94,545,353 (GRCm39) |
critical splice donor site |
probably null |
|
R8749:Ap3b1
|
UTSW |
13 |
94,664,725 (GRCm39) |
missense |
unknown |
|
R8876:Ap3b1
|
UTSW |
13 |
94,540,586 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8889:Ap3b1
|
UTSW |
13 |
94,679,348 (GRCm39) |
missense |
unknown |
|
R8892:Ap3b1
|
UTSW |
13 |
94,679,348 (GRCm39) |
missense |
unknown |
|
R9065:Ap3b1
|
UTSW |
13 |
94,608,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R9152:Ap3b1
|
UTSW |
13 |
94,630,239 (GRCm39) |
missense |
unknown |
|
R9152:Ap3b1
|
UTSW |
13 |
94,609,439 (GRCm39) |
critical splice donor site |
probably null |
|
R9166:Ap3b1
|
UTSW |
13 |
94,608,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R9218:Ap3b1
|
UTSW |
13 |
94,584,959 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9269:Ap3b1
|
UTSW |
13 |
94,540,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTCAGAACACCTCAGCTCTCTTGAA -3'
(R):5'- CGTTACCTTGCCGATGCACACAC -3'
Sequencing Primer
(F):5'- GCTCTCTTGAAGTTACAATACATGGG -3'
(R):5'- acctcctgcctctctctc -3'
|
Posted On |
2014-05-09 |