Incidental Mutation 'R0034:Ap3b1'
| ID |
64599 |
| 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 |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 94616393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022196
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231916
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
C |
T |
7: 136,989,321 (GRCm39) |
R60Q |
probably benign |
Het |
| Angpt4 |
C |
T |
2: 151,771,311 (GRCm39) |
T209I |
probably benign |
Het |
| Aplp1 |
A |
C |
7: 30,143,867 (GRCm39) |
V56G |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,846 (GRCm38) |
H844L |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,288 (GRCm39) |
Y56H |
probably benign |
Het |
| Cd300lb |
C |
T |
11: 114,819,225 (GRCm39) |
V135I |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Cfap74 |
C |
T |
4: 155,545,344 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,175,708 (GRCm39) |
I47L |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,774,808 (GRCm39) |
T200A |
probably benign |
Het |
| Exoc1l |
A |
G |
5: 76,664,377 (GRCm39) |
I155M |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,262,973 (GRCm39) |
M795K |
probably benign |
Het |
| Gabpb1 |
C |
T |
2: 126,500,454 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Gata4 |
C |
A |
14: 63,438,933 (GRCm39) |
M381I |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,058,282 (GRCm39) |
S446P |
possibly damaging |
Het |
| Gnb1 |
T |
A |
4: 155,636,146 (GRCm39) |
N155K |
probably benign |
Het |
| Haspin |
G |
A |
11: 73,029,044 (GRCm39) |
T15M |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,971,955 (GRCm39) |
L745P |
probably damaging |
Het |
| Kcng3 |
T |
A |
17: 83,895,812 (GRCm39) |
|
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,828,350 (GRCm39) |
N887I |
possibly damaging |
Het |
| Kif26a |
T |
C |
12: 112,135,397 (GRCm39) |
|
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,551,300 (GRCm39) |
C613F |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,381,520 (GRCm39) |
I3826N |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,093,913 (GRCm39) |
S2006P |
probably damaging |
Het |
| Or51m1 |
T |
C |
7: 103,578,708 (GRCm39) |
V226A |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,442,448 (GRCm39) |
T285A |
probably benign |
Het |
| Pcdhb5 |
A |
G |
18: 37,455,137 (GRCm39) |
N506D |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,367,405 (GRCm39) |
G768S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,952,105 (GRCm39) |
|
probably benign |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Rhobtb2 |
T |
C |
14: 70,026,137 (GRCm39) |
T602A |
probably benign |
Het |
| Samd3 |
G |
A |
10: 26,147,398 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
C |
10: 79,894,174 (GRCm39) |
|
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,759 (GRCm39) |
V96A |
probably benign |
Het |
| Senp7 |
A |
C |
16: 55,973,933 (GRCm39) |
S385R |
possibly damaging |
Het |
| Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,938,392 (GRCm39) |
M467K |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,618 (GRCm39) |
I66T |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,058,752 (GRCm39) |
|
probably null |
Het |
| Tfrc |
T |
A |
16: 32,434,214 (GRCm39) |
|
probably null |
Het |
| Tmem30b |
T |
C |
12: 73,592,779 (GRCm39) |
Y112C |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,631,814 (GRCm39) |
S43P |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Uroc1 |
T |
C |
6: 90,322,292 (GRCm39) |
V272A |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,738 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,435 (GRCm39) |
W364R |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,556 (GRCm39) |
T377K |
possibly damaging |
Het |
| Zfta |
C |
A |
19: 7,397,724 (GRCm39) |
H90Q |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
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 |
|
|
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 |
|
|
R1660:Ap3b1
|
UTSW |
13 |
94,545,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AAGGCCCATCTAAGTCAGTACCTCC -3'
(R):5'- GCCTTCCAAGGTGAAGATGAACCC -3'
Sequencing Primer
(F):5'- GGTCCTACACGTAGTTAAATGGC -3'
(R):5'- TGAAGATGAACCCTAAGATCTGCTC -3'
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| Posted On |
2013-08-06 |
Incidental Mutation