Incidental Mutation 'R1735:Ap3b1'
| ID |
199666 |
| 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 |
039767-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R1735 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94630225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 827
(V827I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: V827I
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: V827I
| 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 |
unknown
Transcript: ENSMUST00000231916
AA Change: V192I
|
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.0%
- 10x: 95.3%
- 20x: 92.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
T |
12: 84,122,261 (GRCm39) |
I282F |
probably benign |
Het |
| Adam19 |
C |
A |
11: 46,029,744 (GRCm39) |
Q730K |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,636,066 (GRCm39) |
V3481A |
possibly damaging |
Het |
| Akr1c20 |
T |
C |
13: 4,537,207 (GRCm39) |
D316G |
probably benign |
Het |
| Aph1a |
T |
A |
3: 95,802,821 (GRCm39) |
D140E |
probably damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,976,929 (GRCm39) |
V502L |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,473 (GRCm39) |
F67S |
probably damaging |
Het |
| B430305J03Rik |
G |
A |
3: 61,271,361 (GRCm39) |
|
probably benign |
Het |
| B4galnt2 |
A |
G |
11: 95,781,809 (GRCm39) |
F119L |
probably damaging |
Het |
| Bcap29 |
T |
A |
12: 31,680,839 (GRCm39) |
N49I |
probably damaging |
Het |
| Capn11 |
T |
A |
17: 45,943,327 (GRCm39) |
K616* |
probably null |
Het |
| Cdh12 |
T |
A |
15: 21,520,452 (GRCm39) |
Y306N |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,828,960 (GRCm39) |
N315Y |
probably damaging |
Het |
| Cfap300 |
A |
C |
9: 8,027,266 (GRCm39) |
S91A |
probably benign |
Het |
| Cited2 |
C |
A |
10: 17,599,794 (GRCm39) |
P34Q |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,297 (GRCm39) |
D2930E |
probably benign |
Het |
| Cog3 |
T |
A |
14: 75,966,761 (GRCm39) |
K470* |
probably null |
Het |
| Commd10 |
A |
G |
18: 47,123,552 (GRCm39) |
T136A |
probably benign |
Het |
| Csf2ra |
C |
A |
19: 61,214,782 (GRCm39) |
D181Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,982,610 (GRCm39) |
I2686F |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,081,620 (GRCm39) |
S415P |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,788,645 (GRCm39) |
F630Y |
probably damaging |
Het |
| Ell |
T |
A |
8: 71,031,590 (GRCm39) |
I96N |
possibly damaging |
Het |
| Ephx2 |
T |
A |
14: 66,325,752 (GRCm39) |
I358L |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,463,307 (GRCm39) |
I120T |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,776,606 (GRCm39) |
Y137H |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,801 (GRCm39) |
E403G |
probably damaging |
Het |
| Fcrlb |
C |
A |
1: 170,734,901 (GRCm39) |
V409F |
probably benign |
Het |
| Flot2 |
G |
T |
11: 77,948,831 (GRCm39) |
A269S |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,563 (GRCm39) |
N419K |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,552,350 (GRCm39) |
M61K |
probably null |
Het |
| Htr2a |
T |
C |
14: 74,943,568 (GRCm39) |
F383L |
probably damaging |
Het |
| Kctd6 |
C |
T |
14: 8,222,253 (GRCm38) |
R32C |
probably damaging |
Het |
| Khdc1a |
A |
G |
1: 21,421,189 (GRCm39) |
T125A |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,609,004 (GRCm39) |
S390P |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,921,956 (GRCm39) |
T808I |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,492,585 (GRCm39) |
D1342A |
probably damaging |
Het |
| Lrat |
T |
C |
3: 82,804,417 (GRCm39) |
I187V |
probably benign |
Het |
| Lrif1 |
T |
C |
3: 106,643,162 (GRCm39) |
*238Q |
probably null |
Het |
| Lrp2bp |
T |
C |
8: 46,465,025 (GRCm39) |
F48S |
probably benign |
Het |
| Mafg |
A |
G |
11: 120,520,504 (GRCm39) |
M32T |
possibly damaging |
Het |
| Map4 |
C |
T |
9: 109,864,023 (GRCm39) |
T416I |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,659 (GRCm39) |
F1236S |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,810,466 (GRCm39) |
D414G |
probably damaging |
Het |
| Nhsl3 |
G |
T |
4: 129,117,370 (GRCm39) |
S476R |
probably damaging |
Het |
| Nrip2 |
T |
G |
6: 128,382,037 (GRCm39) |
V50G |
probably damaging |
Het |
| Or10aa3 |
A |
T |
1: 173,878,365 (GRCm39) |
K142I |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,374 (GRCm39) |
N4S |
probably benign |
Het |
| Or52ae7 |
T |
A |
7: 103,119,353 (GRCm39) |
F36I |
possibly damaging |
Het |
| Or5b24 |
T |
A |
19: 12,912,207 (GRCm39) |
I35N |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,822 (GRCm39) |
H384L |
probably benign |
Het |
| Pik3r1 |
A |
T |
13: 101,822,882 (GRCm39) |
Y607N |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,074,397 (GRCm39) |
T168I |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,633,222 (GRCm39) |
S912P |
probably damaging |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,415 (GRCm39) |
K447E |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,388,822 (GRCm39) |
E907G |
possibly damaging |
Het |
| Rabep2 |
A |
G |
7: 126,043,712 (GRCm39) |
R470G |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,001,730 (GRCm39) |
Y518C |
probably damaging |
Het |
| Rbmxl1 |
A |
G |
8: 79,232,711 (GRCm39) |
Y211H |
probably damaging |
Het |
| Rdh7 |
T |
C |
10: 127,720,454 (GRCm39) |
Y306C |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,276 (GRCm39) |
I220V |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,913,742 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Scube1 |
T |
C |
15: 83,491,638 (GRCm39) |
H952R |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,039,811 (GRCm39) |
I690T |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,420,656 (GRCm39) |
I1108T |
unknown |
Het |
| Snip1 |
A |
G |
4: 124,964,994 (GRCm39) |
D133G |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,871,971 (GRCm39) |
Y77C |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,982,880 (GRCm39) |
V112A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,936,944 (GRCm39) |
P3718S |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,980,401 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,839,473 (GRCm39) |
E1529V |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,585,882 (GRCm39) |
H965L |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,903,343 (GRCm39) |
L781Q |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,811,045 (GRCm39) |
I401T |
probably benign |
Het |
| Zc3h14 |
C |
T |
12: 98,724,839 (GRCm39) |
P167L |
probably damaging |
Het |
| Zfp609 |
G |
T |
9: 65,610,374 (GRCm39) |
S863* |
probably null |
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 |
|
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'- AGGATGTCAGCTCTGTCCATGTAGG -3'
(R):5'- ATGCTCAACCAGGGAAAGGCAC -3'
Sequencing Primer
(F):5'- ACCTGTCTAGCAGTTATCTCGAAG -3'
(R):5'- ACGCGAGAAGCGCTATAAGA -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation