Incidental Mutation 'P0045:Ap2b1'
| ID |
7701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
038292-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83368026 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 736
(N736K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018875
AA Change: N774K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: N774K
| 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 damaging
Transcript: ENSMUST00000065692
AA Change: N760K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: N760K
| 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 damaging
Transcript: ENSMUST00000176430
AA Change: N774K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: N774K
| 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 damaging
Transcript: ENSMUST00000176523
AA Change: N736K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: N736K
| 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 |
0.6090 |
| Coding Region Coverage |
- 1x: 79.8%
- 3x: 69.7%
- 10x: 39.8%
- 20x: 17.7%
|
| Validation Efficiency |
80% (82/102) |
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chsy3 |
C |
A |
18: 59,409,006 |
Y405* |
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,647,611 |
S2062P |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,231,272 |
D204E |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,030,327 |
V2328A |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,918,199 |
K876E |
probably damaging |
Het |
| Immt |
T |
G |
6: 71,868,617 |
I404M |
possibly damaging |
Het |
| Kcp |
A |
G |
6: 29,498,348 |
V403A |
probably damaging |
Het |
| Litaf |
C |
T |
16: 10,963,365 |
R90H |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,091,535 |
S639T |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,288,097 |
M1091K |
probably damaging |
Het |
| Pramel1 |
C |
T |
4: 143,398,522 |
R339* |
probably null |
Het |
| Prss32 |
A |
G |
17: 23,859,320 |
S327G |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,851,167 |
|
probably benign |
Het |
| Tpm3 |
T |
C |
3: 90,091,093 |
|
probably null |
Het |
| Ubac2 |
T |
C |
14: 121,973,596 |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,156,945 |
E117G |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2012-10-29 |
Incidental Mutation