Incidental Mutation 'R4478:Ap1m2'
| ID |
331365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap1m2
|
| Ensembl Gene |
ENSMUSG00000003309 |
| Gene Name |
adaptor protein complex AP-1, mu 2 subunit |
| Synonyms |
D9Ertd818e, mu1B, [m]1B |
| MMRRC Submission |
041735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R4478 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21206753-21223617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21209509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 389
(V389A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003397]
[ENSMUST00000115433]
[ENSMUST00000213250]
[ENSMUST00000213762]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003397
AA Change: V387A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: V387A
| 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 benign
Transcript: ENSMUST00000115433
AA Change: V389A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: V389A
| 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 |
probably benign
Transcript: ENSMUST00000213250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213762
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
94% (46/49) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,185,171 (GRCm39) |
D509G |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,610,594 (GRCm39) |
T1379I |
probably benign |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,659 (GRCm39) |
|
probably benign |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,428,450 (GRCm39) |
T118A |
probably damaging |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dag1 |
G |
C |
9: 108,085,929 (GRCm39) |
T404R |
probably damaging |
Het |
| Dnah3 |
T |
G |
7: 119,671,086 (GRCm39) |
H599P |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fabp9 |
T |
C |
3: 10,262,166 (GRCm39) |
Y30C |
probably damaging |
Het |
| Fnbp1 |
G |
A |
2: 30,995,266 (GRCm39) |
A56V |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,252,481 (GRCm39) |
A67V |
probably damaging |
Het |
| Il6ra |
T |
A |
3: 89,797,597 (GRCm39) |
Y90F |
probably damaging |
Het |
| Kcnk18 |
T |
C |
19: 59,223,676 (GRCm39) |
S274P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,607,391 (GRCm39) |
A585T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myo9b |
A |
T |
8: 71,743,725 (GRCm39) |
K262M |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10aa1 |
C |
T |
1: 173,870,182 (GRCm39) |
T222I |
probably benign |
Het |
| Or6c6b |
C |
T |
10: 129,147,645 (GRCm39) |
L90F |
possibly damaging |
Het |
| Or8h10 |
G |
T |
2: 86,808,562 (GRCm39) |
R193S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,173,068 (GRCm39) |
C1288S |
possibly damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,809,380 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,235,057 (GRCm39) |
E619K |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,812,761 (GRCm39) |
R311L |
probably damaging |
Het |
| S2bpcox16 |
T |
C |
12: 81,535,990 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,424,990 (GRCm39) |
L407* |
probably null |
Het |
| Snap29 |
T |
C |
16: 17,246,019 (GRCm39) |
V213A |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,555,773 (GRCm39) |
|
probably null |
Het |
| Stard7 |
T |
A |
2: 127,126,179 (GRCm39) |
L77Q |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,110 (GRCm39) |
Y668H |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,364,696 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmem87a |
C |
T |
2: 120,199,824 (GRCm39) |
W440* |
probably null |
Het |
| Tnr |
T |
A |
1: 159,712,326 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
T |
5: 148,448,787 (GRCm39) |
S18N |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,106,241 (GRCm39) |
D61E |
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp1 |
A |
G |
8: 112,397,175 (GRCm39) |
R366G |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,867,630 (GRCm39) |
R269* |
probably null |
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 |
|
|
IGL02533:Ap1m2
|
APN |
9 |
21,207,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAAAGTCAAGAGTGCTGGCTG -3'
(R):5'- ACAGGTAACGCTGCAGTGAG -3'
Sequencing Primer
(F):5'- AGAAGGGTGCTCTCAGCTCTAG -3'
(R):5'- TAACGCTGCAGTGAGGGTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation