Incidental Mutation 'R4202:Ap2b1'
ID |
318803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap2b1
|
Ensembl Gene |
ENSMUSG00000035152 |
Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
Synonyms |
1300012O03Rik |
MMRRC Submission |
041032-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4202 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 83335604 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176523]
[ENSMUST00000176523]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
AlphaFold |
Q9DBG3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018875
|
SMART Domains |
Protein: ENSMUSP00000018875 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000018875
|
SMART Domains |
Protein: ENSMUSP00000018875 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065692
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132178
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176430
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176523
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176944
|
SMART Domains |
Protein: ENSMUSP00000134798 Gene: ENSMUSG00000035152
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
10 |
199 |
3.4e-67 |
PFAM |
Pfam:DNA_alkylation
|
18 |
196 |
4.6e-8 |
PFAM |
Pfam:HEAT_2
|
88 |
185 |
3.1e-13 |
PFAM |
Pfam:Cnd1
|
99 |
198 |
4.2e-27 |
PFAM |
Pfam:HEAT
|
122 |
151 |
1.4e-5 |
PFAM |
|
Meta Mutation Damage Score |
0.9755  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
92% (33/36) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adsl |
C |
T |
15: 80,952,216 |
T58I |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,380,478 |
D77G |
probably benign |
Het |
Bclaf3 |
T |
A |
X: 159,553,833 |
S419T |
probably damaging |
Het |
Bysl |
A |
G |
17: 47,604,326 |
S166P |
probably benign |
Het |
Cd101 |
A |
C |
3: 101,018,685 |
D239E |
probably damaging |
Het |
Cdc42bpb |
G |
A |
12: 111,294,139 |
P1702S |
probably benign |
Het |
Cfap65 |
G |
T |
1: 74,920,542 |
F816L |
probably damaging |
Het |
Cnot6 |
T |
C |
11: 49,702,636 |
Y6C |
probably damaging |
Het |
Csrp1 |
T |
G |
1: 135,745,327 |
C61G |
probably damaging |
Het |
Gmeb2 |
A |
G |
2: 181,253,973 |
V468A |
possibly damaging |
Het |
Gucy2g |
A |
G |
19: 55,229,769 |
S416P |
possibly damaging |
Het |
Hormad1 |
G |
A |
3: 95,585,198 |
R362H |
probably benign |
Het |
Lancl2 |
T |
A |
6: 57,712,992 |
V61D |
probably benign |
Het |
Lta4h |
A |
G |
10: 93,470,807 |
D287G |
probably damaging |
Het |
Maml1 |
A |
T |
11: 50,257,913 |
L1000Q |
probably damaging |
Het |
Olfr776 |
T |
C |
10: 129,261,777 |
V272A |
probably benign |
Het |
Olfr8 |
T |
C |
10: 78,955,295 |
V30A |
probably benign |
Het |
Osbpl9 |
G |
T |
4: 109,172,240 |
|
probably benign |
Het |
Oser1 |
T |
C |
2: 163,411,455 |
T45A |
probably benign |
Het |
Ppfibp1 |
C |
A |
6: 147,029,581 |
S878R |
probably damaging |
Het |
Prss43 |
T |
A |
9: 110,827,461 |
V72D |
probably benign |
Het |
Sdhb |
T |
A |
4: 140,979,068 |
M272K |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 92,943,086 |
V1151F |
probably damaging |
Het |
Stx17 |
T |
A |
4: 48,158,870 |
D83E |
probably damaging |
Het |
Tas2r138 |
T |
C |
6: 40,612,476 |
M279V |
possibly damaging |
Het |
Tmem55b |
A |
G |
14: 50,930,655 |
S41P |
probably damaging |
Het |
Tsku |
C |
T |
7: 98,352,998 |
R42H |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,429,068 |
L528P |
possibly damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,472,579 |
I597V |
probably benign |
Het |
Wnt5b |
T |
C |
6: 119,440,311 |
N198D |
probably damaging |
Het |
|
Other mutations in Ap2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00864:Ap2b1
|
APN |
11 |
83333158 |
missense |
probably damaging |
0.99 |
IGL01583:Ap2b1
|
APN |
11 |
83324611 |
missense |
possibly damaging |
0.61 |
IGL01753:Ap2b1
|
APN |
11 |
83321973 |
missense |
probably damaging |
1.00 |
IGL01992:Ap2b1
|
APN |
11 |
83335530 |
missense |
probably damaging |
1.00 |
IGL02192:Ap2b1
|
APN |
11 |
83346766 |
missense |
possibly damaging |
0.48 |
IGL02315:Ap2b1
|
APN |
11 |
83336799 |
missense |
probably damaging |
0.96 |
IGL03235:Ap2b1
|
APN |
11 |
83341384 |
missense |
probably benign |
0.41 |
P0045:Ap2b1
|
UTSW |
11 |
83368026 |
missense |
probably damaging |
1.00 |
R0121:Ap2b1
|
UTSW |
11 |
83321967 |
missense |
possibly damaging |
0.66 |
R0334:Ap2b1
|
UTSW |
11 |
83367874 |
splice site |
probably benign |
|
R1222:Ap2b1
|
UTSW |
11 |
83346738 |
missense |
probably benign |
0.06 |
R1297:Ap2b1
|
UTSW |
11 |
83333109 |
missense |
probably damaging |
1.00 |
R1653:Ap2b1
|
UTSW |
11 |
83346831 |
missense |
probably damaging |
1.00 |
R1719:Ap2b1
|
UTSW |
11 |
83324604 |
missense |
probably damaging |
1.00 |
R1885:Ap2b1
|
UTSW |
11 |
83390735 |
missense |
probably damaging |
0.99 |
R1886:Ap2b1
|
UTSW |
11 |
83390735 |
missense |
probably damaging |
0.99 |
R1965:Ap2b1
|
UTSW |
11 |
83346895 |
missense |
probably benign |
0.00 |
R1966:Ap2b1
|
UTSW |
11 |
83346895 |
missense |
probably benign |
0.00 |
R2046:Ap2b1
|
UTSW |
11 |
83336386 |
missense |
probably benign |
0.14 |
R2086:Ap2b1
|
UTSW |
11 |
83351118 |
missense |
possibly damaging |
0.88 |
R2132:Ap2b1
|
UTSW |
11 |
83324761 |
splice site |
probably benign |
|
R3615:Ap2b1
|
UTSW |
11 |
83324565 |
missense |
possibly damaging |
0.84 |
R3616:Ap2b1
|
UTSW |
11 |
83324565 |
missense |
possibly damaging |
0.84 |
R3983:Ap2b1
|
UTSW |
11 |
83390716 |
missense |
probably damaging |
1.00 |
R4124:Ap2b1
|
UTSW |
11 |
83365645 |
critical splice acceptor site |
probably null |
|
R4125:Ap2b1
|
UTSW |
11 |
83365645 |
critical splice acceptor site |
probably null |
|
R4198:Ap2b1
|
UTSW |
11 |
83342603 |
missense |
probably damaging |
1.00 |
R4543:Ap2b1
|
UTSW |
11 |
83324650 |
missense |
probably damaging |
1.00 |
R4583:Ap2b1
|
UTSW |
11 |
83397779 |
missense |
probably benign |
0.00 |
R4589:Ap2b1
|
UTSW |
11 |
83333011 |
nonsense |
probably null |
|
R4916:Ap2b1
|
UTSW |
11 |
83390706 |
missense |
probably damaging |
1.00 |
R5005:Ap2b1
|
UTSW |
11 |
83339392 |
missense |
probably damaging |
1.00 |
R5385:Ap2b1
|
UTSW |
11 |
83342601 |
missense |
probably damaging |
1.00 |
R5510:Ap2b1
|
UTSW |
11 |
83336737 |
splice site |
probably null |
|
R5738:Ap2b1
|
UTSW |
11 |
83336430 |
splice site |
probably null |
|
R6023:Ap2b1
|
UTSW |
11 |
83335398 |
missense |
probably damaging |
0.99 |
R6269:Ap2b1
|
UTSW |
11 |
83346673 |
missense |
probably damaging |
1.00 |
R6383:Ap2b1
|
UTSW |
11 |
83346825 |
missense |
probably damaging |
1.00 |
R6416:Ap2b1
|
UTSW |
11 |
83308239 |
start codon destroyed |
probably null |
1.00 |
R6502:Ap2b1
|
UTSW |
11 |
83342679 |
missense |
probably damaging |
0.97 |
R6810:Ap2b1
|
UTSW |
11 |
83335491 |
missense |
possibly damaging |
0.89 |
R6969:Ap2b1
|
UTSW |
11 |
83389726 |
missense |
probably damaging |
0.99 |
R7238:Ap2b1
|
UTSW |
11 |
83333122 |
missense |
possibly damaging |
0.91 |
R7241:Ap2b1
|
UTSW |
11 |
83351105 |
missense |
probably benign |
0.16 |
R7429:Ap2b1
|
UTSW |
11 |
83367998 |
missense |
probably benign |
0.00 |
R7588:Ap2b1
|
UTSW |
11 |
83324522 |
missense |
probably benign |
0.00 |
R7635:Ap2b1
|
UTSW |
11 |
83389728 |
missense |
probably benign |
0.09 |
R7651:Ap2b1
|
UTSW |
11 |
83339430 |
critical splice donor site |
probably null |
|
R7753:Ap2b1
|
UTSW |
11 |
83367907 |
nonsense |
probably null |
|
R8468:Ap2b1
|
UTSW |
11 |
83351065 |
missense |
probably damaging |
1.00 |
R8943:Ap2b1
|
UTSW |
11 |
83346753 |
missense |
probably damaging |
1.00 |
R9093:Ap2b1
|
UTSW |
11 |
83324569 |
missense |
probably damaging |
1.00 |
R9621:Ap2b1
|
UTSW |
11 |
83402598 |
missense |
probably damaging |
1.00 |
X0064:Ap2b1
|
UTSW |
11 |
83324569 |
missense |
probably damaging |
1.00 |
Z1177:Ap2b1
|
UTSW |
11 |
83365753 |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGCTTTCAGCCGTAAAAG -3'
(R):5'- TCAACTAAAGCTTTCCATGGGG -3'
Sequencing Primer
(F):5'- GCTTTCAGCCGTAAAAGTCCTAATG -3'
(R):5'- CCTAGTCTACACAGTGAGAGTCTG -3'
|
Posted On |
2015-06-10 |