Incidental Mutation 'R4124:Ap2b1'
| ID |
315321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
041632-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 83365645 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176523]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000104029
|
| 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 |
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (35/35) |
| 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 |
|---|
| 4930433I11Rik |
T |
A |
7: 40,993,921 |
M338K |
probably damaging |
Het |
| 4933409G03Rik |
T |
A |
2: 68,616,224 |
|
probably benign |
Het |
| Adamtsl4 |
C |
T |
3: 95,681,672 |
R483Q |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,537,323 |
|
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,623 |
F327S |
probably damaging |
Het |
| Cd6 |
G |
T |
19: 10,790,608 |
P630T |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,394,395 |
I67V |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,196,593 |
V978M |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,186,713 |
D864G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,337,421 |
R1062G |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,854,941 |
E99G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,770,653 |
D3516G |
probably benign |
Het |
| Gpx6 |
C |
T |
13: 21,317,645 |
Q146* |
probably null |
Het |
| Grid2 |
A |
T |
6: 63,503,433 |
Q77L |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,480,619 |
V287A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,819,796 |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,056,630 |
D43E |
probably benign |
Het |
| Olfr761 |
A |
G |
17: 37,952,790 |
I78T |
probably benign |
Het |
| Poln |
A |
G |
5: 34,103,951 |
S561P |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,137,457 |
S562G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,546,907 |
R264G |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 37,958,214 |
H144R |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,152,324 |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
| Slamf9 |
T |
C |
1: 172,476,241 |
I51T |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 50,843,734 |
R1349Q |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 49,059,411 |
I111M |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,895,698 |
Q203* |
probably null |
Het |
| Vmn1r215 |
A |
T |
13: 23,075,993 |
T68S |
probably benign |
Het |
| Ypel2 |
A |
G |
11: 86,945,927 |
|
probably null |
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 |
|
R4125:Ap2b1
|
UTSW |
11 |
83365645 |
critical splice acceptor site |
probably null |
|
|
R4198:Ap2b1
|
UTSW |
11 |
83342603 |
missense |
probably damaging |
1.00 |
|
R4202:Ap2b1
|
UTSW |
11 |
83335604 |
critical splice donor site |
probably null |
|
|
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'- ATCCTGGATCACTGTGTTCTTG -3'
(R):5'- GGTGTTGCTCAGCTACCTAC -3'
Sequencing Primer
(F):5'- TGTGCCTTGACAAAGCCTCTAAAG -3'
(R):5'- AGCTACCTACTTACCGCCTTAGGAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation