Incidental Mutation 'R8876:Ap3b1'
| ID |
676596 |
| 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 |
068688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R8876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 94540586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 169
(N169K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022196
AA Change: N169K
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: N169K
| 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 |
|
| Meta Mutation Damage Score |
0.1702 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
C |
2: 93,668,403 (GRCm39) |
L356R |
probably damaging |
Het |
| Acvr1 |
A |
T |
2: 58,338,422 (GRCm39) |
D433E |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,502 (GRCm39) |
L122P |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,000 (GRCm39) |
S216P |
probably benign |
Het |
| Arap3 |
T |
A |
18: 38,130,077 (GRCm39) |
H28L |
possibly damaging |
Het |
| Arhgap44 |
C |
T |
11: 64,898,896 (GRCm39) |
M760I |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,975,193 (GRCm39) |
A304S |
probably benign |
Het |
| Atpaf1 |
T |
C |
4: 115,645,548 (GRCm39) |
I139T |
possibly damaging |
Het |
| BC024139 |
G |
T |
15: 76,010,320 (GRCm39) |
T62K |
possibly damaging |
Het |
| Bmal2 |
G |
A |
6: 146,723,492 (GRCm39) |
G274D |
probably benign |
Het |
| Capn5 |
T |
C |
7: 97,780,902 (GRCm39) |
T292A |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,358,814 (GRCm39) |
N53S |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,467 (GRCm39) |
V232A |
possibly damaging |
Het |
| Cfap298 |
A |
G |
16: 90,724,281 (GRCm39) |
I164T |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,777,360 (GRCm39) |
T837K |
probably benign |
Het |
| Col8a2 |
G |
C |
4: 126,204,647 (GRCm39) |
G219A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,206,951 (GRCm39) |
S365P |
|
Het |
| Dnah2 |
T |
C |
11: 69,382,348 (GRCm39) |
D1254G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,420,828 (GRCm39) |
L1686S |
probably damaging |
Het |
| Fgr |
A |
G |
4: 132,726,071 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
A |
2: 4,606,111 (GRCm39) |
S612T |
probably damaging |
Het |
| Gadd45gip1 |
T |
C |
8: 85,560,748 (GRCm39) |
I121T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,568,560 (GRCm39) |
V1353A |
possibly damaging |
Het |
| Gdf3 |
G |
A |
6: 122,583,942 (GRCm39) |
P142S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,749,776 (GRCm39) |
G486R |
unknown |
Het |
| Gpatch2l |
T |
C |
12: 86,308,405 (GRCm39) |
L307P |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,561,580 (GRCm39) |
K757E |
probably damaging |
Het |
| Inppl1 |
T |
A |
7: 101,472,750 (GRCm39) |
H1218L |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,873,257 (GRCm39) |
I1055V |
probably benign |
Het |
| Krtap9-5 |
G |
T |
11: 99,840,340 (GRCm39) |
C347F |
unknown |
Het |
| Magi2 |
T |
A |
5: 20,856,190 (GRCm39) |
Y1050* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,206,378 (GRCm39) |
|
probably benign |
Het |
| Ntpcr |
T |
G |
8: 126,464,785 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,716 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or1p1b |
C |
T |
11: 74,130,846 (GRCm39) |
T152I |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,361,386 (GRCm39) |
M136T |
probably damaging |
Het |
| Palmd |
T |
G |
3: 116,720,899 (GRCm39) |
D145A |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,980,155 (GRCm39) |
S21P |
probably benign |
Het |
| Pkn1 |
T |
C |
8: 84,398,879 (GRCm39) |
T696A |
possibly damaging |
Het |
| Pnpt1 |
T |
A |
11: 29,096,769 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,049,146 (GRCm39) |
I273F |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,323,403 (GRCm39) |
D1382E |
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,208,101 (GRCm39) |
N204Y |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,514,091 (GRCm39) |
I44V |
possibly damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,685,166 (GRCm39) |
V312A |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,942,600 (GRCm39) |
Y2C |
probably benign |
Het |
| Syde1 |
A |
T |
10: 78,425,325 (GRCm39) |
Y229N |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,489 (GRCm39) |
C1853S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,609,249 (GRCm39) |
I17650T |
possibly damaging |
Het |
| Upf1 |
T |
C |
8: 70,796,918 (GRCm39) |
E105G |
possibly damaging |
Het |
| Wrn |
A |
G |
8: 33,814,422 (GRCm39) |
W341R |
probably benign |
Het |
| Xndc1 |
C |
T |
7: 101,729,754 (GRCm39) |
P267L |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,896 (GRCm39) |
T47A |
probably benign |
Het |
| Zc3h10 |
A |
T |
10: 128,380,163 (GRCm39) |
V398E |
probably damaging |
Het |
| Zfp652 |
G |
T |
11: 95,639,921 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- GGTGTCTCTGGAAATGTAAACTTG -3'
(R):5'- GATATCCCTGGGAGATCTGCTC -3'
Sequencing Primer
(F):5'- GAAATTTTGATGGGCATTTTCACTG -3'
(R):5'- GGGAGATCTGCTCTTTTACTTAAAG -3'
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| Posted On |
2021-07-15 |
Incidental Mutation