Incidental Mutation 'R8749:Ap3b1'
| ID |
663727 |
| 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 |
068592-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R8749 (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 A
at 94664725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 888
(M888K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: M888K
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: M888K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
C |
T |
13: 4,320,155 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,391,641 (GRCm39) |
V223E |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,410,497 (GRCm39) |
W1028* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,518,334 (GRCm39) |
V168A |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Caskin1 |
C |
T |
17: 24,723,774 (GRCm39) |
A854V |
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,019,027 (GRCm39) |
N84S |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,027,009 (GRCm39) |
I475N |
probably damaging |
Het |
| Ciz1 |
A |
T |
2: 32,255,848 (GRCm39) |
Y107F |
probably benign |
Het |
| Creb3l4 |
T |
C |
3: 90,145,199 (GRCm39) |
N318D |
probably benign |
Het |
| Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,088,937 (GRCm39) |
K2805N |
probably damaging |
Het |
| Dusp15 |
T |
A |
2: 152,788,209 (GRCm39) |
I63F |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,035,063 (GRCm39) |
Q3462R |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,120,232 (GRCm39) |
C569R |
probably benign |
Het |
| Fmnl3 |
A |
T |
15: 99,219,322 (GRCm39) |
M766K |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,057,140 (GRCm39) |
N262S |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,899,762 (GRCm39) |
L325Q |
probably damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,108 (GRCm39) |
I125V |
probably benign |
Het |
| Hr |
G |
A |
14: 70,795,510 (GRCm39) |
G352R |
probably damaging |
Het |
| Il12b |
A |
T |
11: 44,294,864 (GRCm39) |
M1L |
not run |
Het |
| Lpar6 |
A |
T |
14: 73,476,950 (GRCm39) |
M304L |
probably benign |
Het |
| Mpeg1 |
G |
A |
19: 12,439,291 (GRCm39) |
A250T |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,721 (GRCm39) |
I671T |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,180,863 (GRCm39) |
K1221R |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,399 (GRCm39) |
I276F |
probably damaging |
Het |
| Or4f62 |
A |
G |
2: 111,986,869 (GRCm39) |
D191G |
possibly damaging |
Het |
| Or4k37 |
T |
C |
2: 111,158,817 (GRCm39) |
C18R |
possibly damaging |
Het |
| Or4x12-ps1 |
T |
C |
2: 89,916,631 (GRCm39) |
Y58C |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,574,260 (GRCm39) |
N2S |
probably benign |
Het |
| P3h3 |
G |
A |
6: 124,822,940 (GRCm39) |
R505C |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,392 (GRCm39) |
I451F |
possibly damaging |
Het |
| Pet117 |
C |
A |
2: 144,215,122 (GRCm39) |
D36E |
probably benign |
Het |
| Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,601,029 (GRCm39) |
A2897T |
possibly damaging |
Het |
| Prkra |
A |
G |
2: 76,460,879 (GRCm39) |
L273P |
probably damaging |
Het |
| Prr30 |
T |
A |
14: 101,436,365 (GRCm39) |
T66S |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,700,819 (GRCm39) |
Y188C |
probably damaging |
Het |
| Spink5 |
A |
T |
18: 44,122,425 (GRCm39) |
K297* |
probably null |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tmem100 |
G |
A |
11: 89,926,574 (GRCm39) |
A134T |
probably damaging |
Het |
| Tmem132c |
A |
G |
5: 127,437,003 (GRCm39) |
D164G |
possibly damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,047 (GRCm39) |
T66A |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,129,935 (GRCm39) |
T685I |
probably damaging |
Het |
| Uck1 |
T |
C |
2: 32,146,524 (GRCm39) |
Y185C |
|
Het |
| Umod |
T |
A |
7: 119,070,639 (GRCm39) |
I418F |
probably benign |
Het |
| Upp1 |
A |
T |
11: 9,079,561 (GRCm39) |
S41C |
probably damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,428 (GRCm39) |
Y95F |
probably benign |
Het |
| Vmn1r180 |
G |
T |
7: 23,652,415 (GRCm39) |
D193Y |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,195,319 (GRCm39) |
V669A |
probably damaging |
Het |
| Vmn2r55 |
T |
A |
7: 12,385,796 (GRCm39) |
Y728F |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,513 (GRCm39) |
T564A |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,865,183 (GRCm39) |
N2057I |
|
Het |
| Wdfy3 |
C |
T |
5: 102,030,446 (GRCm39) |
R2354Q |
probably damaging |
Het |
| Wdr77 |
T |
A |
3: 105,866,975 (GRCm39) |
C26S |
probably damaging |
Het |
| Yif1b |
C |
T |
7: 28,946,690 (GRCm39) |
A267V |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,248,565 (GRCm39) |
V227A |
unknown |
Het |
| Zfp600 |
T |
A |
4: 146,133,151 (GRCm39) |
H606Q |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,087,919 (GRCm39) |
W583R |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,719,686 (GRCm39) |
W39R |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,156 (GRCm39) |
C385S |
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 |
|
|
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 |
|
|
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'- CTAACGTTTTAATGCTGCTTTGAGGC -3'
(R):5'- GATGAAAGGCATGCATCTGC -3'
Sequencing Primer
(F):5'- AATGCTGCTTTGAGGCATTTAC -3'
(R):5'- TCTGCATGCCCACAGGAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation