Incidental Mutation 'R0422:Ap3b1'
ID |
37148 |
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 |
038624-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.320)
|
Stock # |
R0422 (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 C
at 94598968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 514
(I514T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022196]
|
AlphaFold |
Q9Z1T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022196
AA Change: I514T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022196 Gene: ENSMUSG00000021686 AA Change: I514T
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: 97.3%
- 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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
A |
7: 119,372,963 (GRCm39) |
Y155* |
probably null |
Het |
Adamts16 |
A |
G |
13: 70,887,074 (GRCm39) |
C937R |
probably damaging |
Het |
Akna |
T |
C |
4: 63,310,391 (GRCm39) |
D451G |
probably damaging |
Het |
Alox12 |
A |
T |
11: 70,145,384 (GRCm39) |
V63E |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,354,478 (GRCm39) |
M286T |
probably damaging |
Het |
Cdkl2 |
T |
C |
5: 92,168,171 (GRCm39) |
D341G |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,526,967 (GRCm39) |
D813G |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,905,099 (GRCm39) |
V894A |
probably damaging |
Het |
Coro2b |
T |
A |
9: 62,335,259 (GRCm39) |
Y304F |
probably benign |
Het |
Dclre1a |
T |
A |
19: 56,532,567 (GRCm39) |
K676* |
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,307,224 (GRCm39) |
|
probably null |
Het |
Dpep3 |
A |
G |
8: 106,702,750 (GRCm39) |
|
probably null |
Het |
Efna5 |
C |
T |
17: 62,914,414 (GRCm39) |
A177T |
probably benign |
Het |
Fabp1 |
G |
A |
6: 71,180,077 (GRCm39) |
V83I |
possibly damaging |
Het |
H2-DMa |
G |
T |
17: 34,356,921 (GRCm39) |
G140C |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,481,145 (GRCm39) |
|
probably null |
Het |
Hyou1 |
T |
A |
9: 44,300,539 (GRCm39) |
N869K |
probably damaging |
Het |
Ing1 |
G |
A |
8: 11,611,933 (GRCm39) |
V124I |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,134,643 (GRCm39) |
I380F |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,019,888 (GRCm39) |
I378V |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,520,662 (GRCm39) |
V1816A |
probably benign |
Het |
Matn2 |
G |
A |
15: 34,435,917 (GRCm39) |
|
probably null |
Het |
Naip2 |
C |
T |
13: 100,297,621 (GRCm39) |
S805N |
probably benign |
Het |
Napsa |
A |
C |
7: 44,234,530 (GRCm39) |
Q254P |
probably damaging |
Het |
Nat10 |
G |
T |
2: 103,557,074 (GRCm39) |
S860* |
probably null |
Het |
Nipbl |
T |
C |
15: 8,381,112 (GRCm39) |
D560G |
probably benign |
Het |
Nr3c2 |
A |
G |
8: 77,912,596 (GRCm39) |
M736V |
probably benign |
Het |
Or4k44 |
A |
T |
2: 111,368,328 (GRCm39) |
F102Y |
probably damaging |
Het |
Or7e174 |
A |
T |
9: 20,012,744 (GRCm39) |
R230* |
probably null |
Het |
Or8u8 |
A |
T |
2: 86,011,566 (GRCm39) |
D296E |
probably benign |
Het |
Palm3 |
A |
G |
8: 84,755,492 (GRCm39) |
S335G |
possibly damaging |
Het |
Panx1 |
G |
T |
9: 14,919,112 (GRCm39) |
S249* |
probably null |
Het |
Parvb |
A |
G |
15: 84,179,812 (GRCm39) |
T231A |
probably benign |
Het |
Pcdhb11 |
G |
T |
18: 37,554,923 (GRCm39) |
L84F |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,925,096 (GRCm39) |
*447Q |
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,440,783 (GRCm39) |
S125P |
probably benign |
Het |
Prss1 |
T |
A |
6: 41,440,246 (GRCm39) |
D194E |
probably damaging |
Het |
Rnf216 |
A |
T |
5: 143,001,409 (GRCm39) |
C772* |
probably null |
Het |
Rnf216 |
A |
T |
5: 143,076,125 (GRCm39) |
F253Y |
probably benign |
Het |
Rsf1 |
A |
T |
7: 97,330,024 (GRCm39) |
E1183D |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,994,132 (GRCm39) |
T958A |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,558,038 (GRCm39) |
M480T |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,467,886 (GRCm39) |
V473E |
probably damaging |
Het |
Slc26a3 |
A |
G |
12: 31,515,848 (GRCm39) |
T583A |
possibly damaging |
Het |
Slc7a15 |
T |
C |
12: 8,584,400 (GRCm39) |
T117A |
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Slitrk6 |
T |
A |
14: 110,989,725 (GRCm39) |
|
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,972,199 (GRCm39) |
S511P |
possibly damaging |
Het |
Spata7 |
A |
G |
12: 98,624,524 (GRCm39) |
Y110C |
probably damaging |
Het |
Supt16 |
T |
A |
14: 52,421,453 (GRCm39) |
I31F |
probably benign |
Het |
Taar7a |
T |
C |
10: 23,869,172 (GRCm39) |
T70A |
probably benign |
Het |
Top2a |
A |
G |
11: 98,900,679 (GRCm39) |
F594L |
probably damaging |
Het |
Unc13d |
C |
T |
11: 115,960,846 (GRCm39) |
|
probably null |
Het |
Unc80 |
T |
G |
1: 66,522,497 (GRCm39) |
V233G |
probably damaging |
Het |
Wdr91 |
A |
T |
6: 34,857,781 (GRCm39) |
D735E |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,756,917 (GRCm39) |
T1141A |
possibly 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 |
|
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 |
|
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'- TCAGTGCCGTAGCAGCTCCTAAAG -3'
(R):5'- TCAACCGTAGGACCTAGTACAGCAG -3'
Sequencing Primer
(F):5'- CGTAGCAGCTCCTAAAGGAATG -3'
(R):5'- CCTAGTACAGCAGGGTGCAG -3'
|
Posted On |
2013-05-09 |