Incidental Mutation 'R0508:Ap3b1'
ID |
47744 |
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 |
038703-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R0508 (G1)
|
Quality Score |
169 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94702222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1092
(S1092P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
AlphaFold |
Q9Z1T1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: S1092P
|
SMART Domains |
Protein: ENSMUSP00000022196 Gene: ENSMUSG00000021686 AA Change: S1092P
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 |
noncoding transcript
Transcript: ENSMUST00000221206
|
Predicted Effect |
unknown
Transcript: ENSMUST00000231916
AA Change: S470P
|
Meta Mutation Damage Score |
0.4433 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
99% (67/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,211,162 (GRCm39) |
L632P |
probably damaging |
Het |
4833439L19Rik |
A |
G |
13: 54,700,863 (GRCm39) |
|
probably null |
Het |
Abca4 |
T |
C |
3: 121,917,200 (GRCm39) |
|
probably benign |
Het |
Adamts10 |
G |
T |
17: 33,762,692 (GRCm39) |
G557V |
probably damaging |
Het |
Adgrg6 |
T |
C |
10: 14,326,360 (GRCm39) |
H424R |
probably benign |
Het |
Ano4 |
T |
C |
10: 88,816,839 (GRCm39) |
Q623R |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,564,364 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
A |
T |
9: 32,101,364 (GRCm39) |
|
probably benign |
Het |
Arhgap40 |
A |
T |
2: 158,388,670 (GRCm39) |
S535C |
probably damaging |
Het |
Atp9a |
T |
C |
2: 168,491,446 (GRCm39) |
|
probably null |
Het |
Bicral |
A |
T |
17: 47,136,327 (GRCm39) |
H294Q |
possibly damaging |
Het |
Ccdc121rt3 |
T |
C |
5: 112,502,685 (GRCm39) |
K340E |
probably damaging |
Het |
Cdhr5 |
T |
A |
7: 140,852,812 (GRCm39) |
H58L |
probably benign |
Het |
Cenpt |
T |
C |
8: 106,576,147 (GRCm39) |
E100G |
possibly damaging |
Het |
Cep97 |
A |
G |
16: 55,750,969 (GRCm39) |
S16P |
probably benign |
Het |
Clec2i |
T |
A |
6: 128,870,663 (GRCm39) |
V67D |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
Coq6 |
G |
T |
12: 84,414,913 (GRCm39) |
|
probably benign |
Het |
Cyp1a1 |
A |
G |
9: 57,607,588 (GRCm39) |
Q72R |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,887,374 (GRCm39) |
S570P |
probably benign |
Het |
Erbin |
T |
C |
13: 103,970,535 (GRCm39) |
N1027S |
probably damaging |
Het |
Exog |
T |
A |
9: 119,277,444 (GRCm39) |
|
probably benign |
Het |
Fahd1 |
A |
C |
17: 25,068,975 (GRCm39) |
V34G |
probably benign |
Het |
Fetub |
C |
T |
16: 22,748,045 (GRCm39) |
R74W |
probably benign |
Het |
Fhip2a |
T |
A |
19: 57,367,174 (GRCm39) |
L239Q |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,284,938 (GRCm39) |
G1253D |
unknown |
Het |
Galnt12 |
A |
G |
4: 47,104,255 (GRCm39) |
D171G |
probably damaging |
Het |
Gm973 |
G |
T |
1: 59,621,649 (GRCm39) |
|
probably benign |
Het |
Hdlbp |
C |
A |
1: 93,342,533 (GRCm39) |
|
probably null |
Het |
Il1rl1 |
T |
A |
1: 40,490,877 (GRCm39) |
I386N |
possibly damaging |
Het |
Itgav |
T |
C |
2: 83,623,002 (GRCm39) |
|
probably benign |
Het |
Magoh |
A |
C |
4: 107,742,195 (GRCm39) |
K114Q |
possibly damaging |
Het |
Mdfic2 |
T |
C |
6: 98,215,005 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,302,075 (GRCm39) |
D986E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
Nckap5 |
T |
C |
1: 125,909,121 (GRCm39) |
|
probably null |
Het |
Neu1 |
A |
G |
17: 35,151,760 (GRCm39) |
I185V |
probably benign |
Het |
Nkiras1 |
T |
A |
14: 18,278,524 (GRCm38) |
D79E |
probably damaging |
Het |
Nkx3-1 |
A |
G |
14: 69,428,350 (GRCm39) |
E66G |
probably benign |
Het |
Or51a5 |
A |
T |
7: 102,771,193 (GRCm39) |
I262N |
possibly damaging |
Het |
Osbpl11 |
T |
A |
16: 33,016,465 (GRCm39) |
N73K |
probably benign |
Het |
Otulin |
C |
T |
15: 27,608,944 (GRCm39) |
V2I |
possibly damaging |
Het |
Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
Pld2 |
T |
C |
11: 70,443,368 (GRCm39) |
M421T |
probably damaging |
Het |
Rgs11 |
A |
G |
17: 26,426,443 (GRCm39) |
|
probably benign |
Het |
Rrad |
A |
T |
8: 105,356,500 (GRCm39) |
D133E |
possibly damaging |
Het |
Scaf11 |
A |
G |
15: 96,318,368 (GRCm39) |
S399P |
probably damaging |
Het |
Sccpdh |
A |
G |
1: 179,508,080 (GRCm39) |
|
probably null |
Het |
Scn2a |
A |
G |
2: 65,548,186 (GRCm39) |
E1126G |
probably damaging |
Het |
Selenop |
T |
G |
15: 3,305,202 (GRCm39) |
D119E |
probably benign |
Het |
Serpinb3c |
T |
A |
1: 107,204,651 (GRCm39) |
S32C |
probably damaging |
Het |
Serpine1 |
C |
A |
5: 137,093,770 (GRCm39) |
K315N |
probably benign |
Het |
Slc27a1 |
T |
C |
8: 72,032,872 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
G |
A |
15: 100,686,973 (GRCm39) |
R259Q |
probably benign |
Het |
Smtnl2 |
C |
T |
11: 72,293,962 (GRCm39) |
R198Q |
probably damaging |
Het |
Spta1 |
A |
C |
1: 174,052,023 (GRCm39) |
Y1819S |
probably damaging |
Het |
Stard3 |
T |
A |
11: 98,263,140 (GRCm39) |
I65N |
probably damaging |
Het |
Tfrc |
T |
C |
16: 32,448,997 (GRCm39) |
L712P |
probably damaging |
Het |
Tmem201 |
G |
A |
4: 149,816,343 (GRCm39) |
R62C |
probably damaging |
Het |
Trim5 |
A |
T |
7: 103,914,811 (GRCm39) |
F410L |
probably null |
Het |
Txndc2 |
T |
A |
17: 65,944,948 (GRCm39) |
I410F |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,580,150 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,392 (GRCm39) |
F115L |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,770,910 (GRCm39) |
V46A |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,933,789 (GRCm39) |
S1615R |
probably benign |
Het |
Zfand4 |
T |
A |
6: 116,262,828 (GRCm39) |
C118S |
probably damaging |
Het |
Zfp952 |
G |
A |
17: 33,221,979 (GRCm39) |
E115K |
possibly damaging |
Het |
Zfpm1 |
T |
C |
8: 123,061,872 (GRCm39) |
F368L |
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 |
|
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'- TTTGAACGGATGCCGTCTGCTC -3'
(R):5'- GATTGCCAAGCACTGATTCACACC -3'
Sequencing Primer
(F):5'- CCTCCTTTTCCCCTCTCAGG -3'
(R):5'- AATGCTACTCGGACTGGGG -3'
|
Posted On |
2013-06-12 |