Incidental Mutation 'R4626:Ap3b1'
| ID |
348799 |
| 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 |
041891-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R4626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
94495468-94702825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
C |
11: 84,313,784 (GRCm39) |
*527G |
probably null |
Het |
| Abca17 |
A |
T |
17: 24,540,058 (GRCm39) |
I390N |
probably damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd49 |
A |
C |
9: 14,693,936 (GRCm39) |
L77R |
probably damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,621,837 (GRCm39) |
F255V |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,698,193 (GRCm39) |
N171I |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,863 (GRCm39) |
D953G |
probably damaging |
Het |
| Atxn1 |
T |
C |
13: 45,720,575 (GRCm39) |
Y440C |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,322,457 (GRCm39) |
Y268H |
possibly damaging |
Het |
| Brms1l |
C |
A |
12: 55,909,958 (GRCm39) |
P243T |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,927,605 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,358,294 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
A |
T |
1: 139,741,314 (GRCm39) |
N220K |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,903 (GRCm39) |
I831V |
possibly damaging |
Het |
| F2 |
T |
A |
2: 91,461,015 (GRCm39) |
N239I |
probably benign |
Het |
| Fbln5 |
T |
A |
12: 101,727,086 (GRCm39) |
D301V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,146,819 (GRCm39) |
C2692* |
probably null |
Het |
| Fhdc1 |
C |
T |
3: 84,381,557 (GRCm39) |
D34N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,747,878 (GRCm39) |
M253K |
probably damaging |
Het |
| Gpc6 |
C |
A |
14: 118,202,255 (GRCm39) |
Y488* |
probably null |
Het |
| Grm5 |
G |
T |
7: 87,779,361 (GRCm39) |
G934C |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,088,958 (GRCm39) |
L119S |
probably damaging |
Het |
| H2-T15 |
CTGGGTG |
CTG |
17: 36,368,788 (GRCm39) |
|
probably null |
Het |
| Htra4 |
T |
C |
8: 25,527,130 (GRCm39) |
N222D |
probably benign |
Het |
| Iba57 |
A |
G |
11: 59,049,287 (GRCm39) |
V294A |
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lama5 |
G |
A |
2: 179,826,253 (GRCm39) |
T2330M |
probably damaging |
Het |
| Lrguk |
G |
A |
6: 34,106,158 (GRCm39) |
E728K |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
| Mettl18 |
T |
A |
1: 163,824,045 (GRCm39) |
V122E |
probably damaging |
Het |
| Mindy2 |
G |
A |
9: 70,534,063 (GRCm39) |
S378L |
probably damaging |
Het |
| Mis18bp1 |
G |
T |
12: 65,187,540 (GRCm39) |
F854L |
probably damaging |
Het |
| Mtdh |
C |
T |
15: 34,114,980 (GRCm39) |
R106* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,923,416 (GRCm39) |
V1315E |
possibly damaging |
Het |
| Nup58 |
A |
G |
14: 60,476,004 (GRCm39) |
V271A |
probably benign |
Het |
| Or1j1 |
A |
G |
2: 36,702,271 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4c101 |
T |
C |
2: 88,390,176 (GRCm39) |
V121A |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,359 (GRCm39) |
S109P |
probably damaging |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,140,051 (GRCm39) |
N560I |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,535,302 (GRCm39) |
F432Y |
probably benign |
Het |
| Peg10 |
GGATCC |
GGATCCCCATCAAGATCC |
6: 4,756,460 (GRCm39) |
|
probably benign |
Het |
| Poll |
C |
A |
19: 45,543,563 (GRCm39) |
M385I |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,144,424 (GRCm39) |
K737E |
possibly damaging |
Het |
| Prr16 |
C |
T |
18: 51,435,911 (GRCm39) |
T130I |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,510,873 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,460,571 (GRCm39) |
I1101T |
possibly damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
| Snx10 |
A |
G |
6: 51,565,270 (GRCm39) |
D129G |
probably damaging |
Het |
| Stub1 |
A |
G |
17: 26,050,845 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,779,186 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Ugt2b36 |
A |
C |
5: 87,239,947 (GRCm39) |
F146C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,160,172 (GRCm39) |
I692V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,091,800 (GRCm39) |
L513P |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,699 (GRCm39) |
V2619D |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,315,844 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,542,912 (GRCm39) |
F142L |
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 |
|
|
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'- ATGCAGGTGTCTCTGGAAATG -3'
(R):5'- CCTGGGAGATCTGCTCTTTTAC -3'
Sequencing Primer
(F):5'- TGCAGGTGTCTCTGGAAATGTAAAC -3'
(R):5'- GGGAGATCTGCTCTTTTACTTAAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation