Incidental Mutation 'IGL02533:Ap1m2'
ID |
297381 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ap1m2
|
Ensembl Gene |
ENSMUSG00000003309 |
Gene Name |
adaptor protein complex AP-1, mu 2 subunit |
Synonyms |
D9Ertd818e, mu1B, [m]1B |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
IGL02533
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
21206753-21223617 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21207797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 396
(Y396C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003397]
[ENSMUST00000115433]
[ENSMUST00000213762]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003397
AA Change: Y394C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003397 Gene: ENSMUSG00000003309 AA Change: Y394C
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
2 |
141 |
7.3e-9 |
PFAM |
Pfam:Adap_comp_sub
|
157 |
422 |
7.3e-93 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115433
AA Change: Y396C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111093 Gene: ENSMUSG00000003309 AA Change: Y396C
Domain | Start | End | E-Value | Type |
Pfam:Clat_adaptor_s
|
2 |
141 |
7.4e-9 |
PFAM |
Pfam:Adap_comp_sub
|
157 |
424 |
4.7e-95 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213762
|
Meta Mutation Damage Score |
0.9140 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bach2 |
T |
C |
4: 32,562,451 (GRCm39) |
V306A |
probably benign |
Het |
Cnga4 |
T |
C |
7: 105,057,168 (GRCm39) |
Y424H |
probably damaging |
Het |
Cops9 |
T |
C |
1: 92,567,438 (GRCm39) |
E79G |
possibly damaging |
Het |
Crebbp |
T |
C |
16: 3,925,296 (GRCm39) |
N769D |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dennd4b |
A |
T |
3: 90,179,617 (GRCm39) |
H636L |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,383,039 (GRCm39) |
R857C |
probably damaging |
Het |
Gbp10 |
A |
T |
5: 105,367,901 (GRCm39) |
V424D |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,454,429 (GRCm39) |
E146G |
possibly damaging |
Het |
Has2 |
A |
T |
15: 56,545,091 (GRCm39) |
H170Q |
probably benign |
Het |
Il22ra1 |
G |
A |
4: 135,472,034 (GRCm39) |
G190D |
possibly damaging |
Het |
Lhcgr |
T |
C |
17: 89,049,838 (GRCm39) |
T563A |
probably benign |
Het |
Mgat4b |
T |
A |
11: 50,124,379 (GRCm39) |
F413Y |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,581,099 (GRCm39) |
|
probably benign |
Het |
Muc19 |
C |
T |
15: 91,782,241 (GRCm39) |
|
noncoding transcript |
Het |
Ncoa7 |
A |
T |
10: 30,566,895 (GRCm39) |
S545R |
possibly damaging |
Het |
Ncoa7 |
A |
C |
10: 30,598,781 (GRCm39) |
D47E |
probably damaging |
Het |
Nme1 |
A |
G |
11: 93,850,257 (GRCm39) |
Y142H |
possibly damaging |
Het |
Or10j3b |
A |
T |
1: 173,043,628 (GRCm39) |
M137L |
probably damaging |
Het |
Or5h25 |
T |
A |
16: 58,930,047 (GRCm39) |
T309S |
probably benign |
Het |
Or8i2 |
T |
A |
2: 86,852,697 (GRCm39) |
S64C |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,358,724 (GRCm39) |
I587T |
possibly damaging |
Het |
Pias3 |
A |
G |
3: 96,606,932 (GRCm39) |
D65G |
possibly damaging |
Het |
Pramel20 |
A |
G |
4: 143,297,572 (GRCm39) |
|
probably benign |
Het |
Prkacb |
T |
C |
3: 146,438,451 (GRCm39) |
I304M |
possibly damaging |
Het |
Ripor2 |
G |
T |
13: 24,885,378 (GRCm39) |
E538* |
probably null |
Het |
Sart1 |
G |
A |
19: 5,433,749 (GRCm39) |
R363* |
probably null |
Het |
Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
Spon2 |
C |
A |
5: 33,371,942 (GRCm39) |
C288F |
probably damaging |
Het |
Tmprss11a |
G |
A |
5: 86,562,386 (GRCm39) |
R320C |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,643,282 (GRCm39) |
I22F |
probably benign |
Het |
Ube3a |
T |
C |
7: 58,954,580 (GRCm39) |
F818L |
probably damaging |
Het |
Vmn1r120 |
T |
G |
7: 20,787,063 (GRCm39) |
Q216P |
probably damaging |
Het |
Vmn2r4 |
A |
C |
3: 64,305,840 (GRCm39) |
Y527* |
probably null |
Het |
Zfp618 |
A |
T |
4: 63,007,642 (GRCm39) |
Y125F |
probably damaging |
Het |
|
Other mutations in Ap1m2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01811:Ap1m2
|
APN |
9 |
21,210,600 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02320:Ap1m2
|
APN |
9 |
21,210,620 (GRCm39) |
nonsense |
probably null |
|
IGL02806:Ap1m2
|
APN |
9 |
21,216,979 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Ap1m2
|
UTSW |
9 |
21,209,548 (GRCm39) |
missense |
probably damaging |
0.98 |
R0172:Ap1m2
|
UTSW |
9 |
21,209,628 (GRCm39) |
splice site |
probably null |
|
R0498:Ap1m2
|
UTSW |
9 |
21,207,129 (GRCm39) |
makesense |
probably null |
|
R1272:Ap1m2
|
UTSW |
9 |
21,217,006 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1424:Ap1m2
|
UTSW |
9 |
21,209,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1747:Ap1m2
|
UTSW |
9 |
21,216,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R4477:Ap1m2
|
UTSW |
9 |
21,209,509 (GRCm39) |
missense |
probably benign |
0.31 |
R4478:Ap1m2
|
UTSW |
9 |
21,209,509 (GRCm39) |
missense |
probably benign |
0.31 |
R4573:Ap1m2
|
UTSW |
9 |
21,217,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R4702:Ap1m2
|
UTSW |
9 |
21,209,591 (GRCm39) |
missense |
probably benign |
0.24 |
R4860:Ap1m2
|
UTSW |
9 |
21,220,970 (GRCm39) |
missense |
probably benign |
|
R4860:Ap1m2
|
UTSW |
9 |
21,220,970 (GRCm39) |
missense |
probably benign |
|
R5285:Ap1m2
|
UTSW |
9 |
21,216,933 (GRCm39) |
nonsense |
probably null |
|
R6131:Ap1m2
|
UTSW |
9 |
21,207,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Ap1m2
|
UTSW |
9 |
21,210,601 (GRCm39) |
missense |
probably benign |
0.02 |
R7262:Ap1m2
|
UTSW |
9 |
21,213,762 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9169:Ap1m2
|
UTSW |
9 |
21,223,523 (GRCm39) |
missense |
probably benign |
0.04 |
R9398:Ap1m2
|
UTSW |
9 |
21,216,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9561:Ap1m2
|
UTSW |
9 |
21,209,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Ap1m2
|
UTSW |
9 |
21,216,983 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Ap1m2
|
UTSW |
9 |
21,209,552 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |