Incidental Mutation 'R7867:Ap3b1'
| ID |
607868 |
| 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 |
045919-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R7867 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 94619771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tryptophan
at position 778
(S778W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
| AlphaFold |
Q9Z1T1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022196
AA Change: S778W
|
| SMART Domains |
Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: S778W
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,212,139 (GRCm39) |
|
probably null |
Het |
| Abcf1 |
C |
A |
17: 36,272,890 (GRCm39) |
K252N |
probably damaging |
Het |
| Abi3 |
C |
T |
11: 95,724,851 (GRCm39) |
A211T |
possibly damaging |
Het |
| Acaca |
A |
T |
11: 84,140,350 (GRCm39) |
D608V |
possibly damaging |
Het |
| Akap10 |
A |
G |
11: 61,791,272 (GRCm39) |
Y396H |
probably damaging |
Het |
| Arb2a |
T |
C |
13: 78,050,837 (GRCm39) |
M165T |
probably benign |
Het |
| Baat |
G |
A |
4: 49,502,925 (GRCm39) |
L66F |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,845,759 (GRCm39) |
N981S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,753,407 (GRCm39) |
R243H |
|
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Cinp |
A |
G |
12: 110,840,557 (GRCm39) |
V198A |
probably benign |
Het |
| Clec4d |
T |
C |
6: 123,244,123 (GRCm39) |
|
probably null |
Het |
| Cnn3 |
A |
G |
3: 121,248,704 (GRCm39) |
I204V |
probably benign |
Het |
| Cpxm2 |
C |
A |
7: 131,650,800 (GRCm39) |
G620V |
probably damaging |
Het |
| Ctrl |
A |
C |
8: 106,659,497 (GRCm39) |
S93A |
probably benign |
Het |
| Cyp2d34 |
A |
G |
15: 82,501,425 (GRCm39) |
V301A |
possibly damaging |
Het |
| Dnaaf5 |
G |
T |
5: 139,147,565 (GRCm39) |
K376N |
probably damaging |
Het |
| Eno2 |
C |
T |
6: 124,740,137 (GRCm39) |
D300N |
probably damaging |
Het |
| Entrep3 |
T |
A |
3: 89,093,083 (GRCm39) |
Y280* |
probably null |
Het |
| Fam117b |
T |
A |
1: 60,014,046 (GRCm39) |
N440K |
probably damaging |
Het |
| Fam131a |
A |
G |
16: 20,514,584 (GRCm39) |
S62G |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,163,240 (GRCm39) |
|
probably null |
Het |
| Fancm |
A |
G |
12: 65,165,173 (GRCm39) |
D1506G |
probably benign |
Het |
| Fhad1 |
C |
A |
4: 141,632,902 (GRCm39) |
V1201L |
probably benign |
Het |
| Gdpd4 |
T |
A |
7: 97,623,185 (GRCm39) |
C265* |
probably null |
Het |
| Gm3127 |
A |
T |
14: 15,425,888 (GRCm39) |
T98S |
probably null |
Het |
| Gpsm1 |
A |
T |
2: 26,230,448 (GRCm39) |
D466V |
probably benign |
Het |
| Gramd1a |
T |
G |
7: 30,842,992 (GRCm39) |
K76Q |
probably damaging |
Het |
| Gstp3 |
T |
C |
19: 4,108,808 (GRCm39) |
D24G |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,810,161 (GRCm39) |
T2531I |
possibly damaging |
Het |
| Klk7 |
C |
A |
7: 43,462,333 (GRCm39) |
D108E |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,740,002 (GRCm39) |
S97P |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,012,008 (GRCm39) |
D105G |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,302 (GRCm39) |
H226L |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,275,896 (GRCm39) |
S1755P |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,946,470 (GRCm39) |
V1217A |
probably damaging |
Het |
| Mtss1 |
A |
T |
15: 58,842,858 (GRCm39) |
V118E |
possibly damaging |
Het |
| Mug1 |
T |
A |
6: 121,850,593 (GRCm39) |
D696E |
probably benign |
Het |
| Ndufa3 |
C |
T |
7: 3,623,003 (GRCm39) |
P56L |
probably damaging |
Het |
| Nop56 |
T |
A |
2: 130,120,205 (GRCm39) |
C471S |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,891,652 (GRCm39) |
H6960L |
unknown |
Het |
| Or13a22 |
C |
T |
7: 140,073,049 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb10 |
A |
C |
18: 37,546,619 (GRCm39) |
Q565P |
probably benign |
Het |
| Pde6g |
T |
A |
11: 120,338,953 (GRCm39) |
H79L |
possibly damaging |
Het |
| Phrf1 |
G |
T |
7: 140,836,524 (GRCm39) |
M265I |
unknown |
Het |
| Pkd2 |
T |
C |
5: 104,630,986 (GRCm39) |
F470S |
probably damaging |
Het |
| Plekhm1 |
T |
A |
11: 103,271,153 (GRCm39) |
D446V |
probably damaging |
Het |
| Prkaca |
A |
T |
8: 84,721,963 (GRCm39) |
T325S |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
| Pten |
T |
C |
19: 32,792,894 (GRCm39) |
F238L |
probably benign |
Het |
| Ptpn21 |
G |
A |
12: 98,671,435 (GRCm39) |
L198F |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,628,930 (GRCm39) |
S394T |
probably benign |
Het |
| Scaf8 |
T |
G |
17: 3,227,994 (GRCm39) |
S408A |
unknown |
Het |
| Slc41a3 |
T |
A |
6: 90,617,909 (GRCm39) |
F312I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,059,598 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
C |
A |
19: 50,218,698 (GRCm39) |
G595* |
probably null |
Het |
| Spopfm1 |
G |
C |
3: 94,173,154 (GRCm39) |
S50T |
probably benign |
Het |
| Stox1 |
G |
T |
10: 62,500,723 (GRCm39) |
D612E |
probably benign |
Het |
| Suco |
T |
C |
1: 161,665,365 (GRCm39) |
I530M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
| Thbd |
G |
A |
2: 148,249,664 (GRCm39) |
A68V |
probably damaging |
Het |
| Tmem109 |
A |
T |
19: 10,855,466 (GRCm39) |
M4K |
unknown |
Het |
| Tmub1 |
G |
C |
5: 24,651,664 (GRCm39) |
P85R |
possibly damaging |
Het |
| Tnk2 |
A |
C |
16: 32,500,053 (GRCm39) |
Q1039H |
probably damaging |
Het |
| Tpm3 |
T |
C |
3: 89,993,775 (GRCm39) |
L89S |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,232,573 (GRCm39) |
R432* |
probably null |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,707 (GRCm39) |
I703F |
probably damaging |
Het |
| Xylt1 |
T |
A |
7: 117,074,749 (GRCm39) |
I122N |
probably benign |
Het |
| Zc3h12c |
T |
C |
9: 52,055,248 (GRCm39) |
E187G |
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 |
|
|
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'- ACAGAGTCATCTAGGCAGCC -3'
(R):5'- ACTTCAGCTAGCAGAGATAGAAC -3'
Sequencing Primer
(F):5'- ATCTAGGCAGCCCTTATTTAATTTTC -3'
(R):5'- CCCTAGTGCTCAGACTAAAGGTATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation