Incidental Mutation 'R5005:Ap2b1'
| ID |
390149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83339392 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 412
(V412A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018875
AA Change: V412A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: V412A
| 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: V412A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: V412A
| 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 damaging
Transcript: ENSMUST00000176430
AA Change: V412A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: V412A
| 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 benign
Transcript: ENSMUST00000176523
AA Change: V374A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: V374A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic2 |
T |
C |
11: 80,883,426 |
Y455C |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,266,351 |
K61E |
probably damaging |
Het |
| Cd207 |
T |
C |
6: 83,674,385 |
E196G |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,659,786 |
Q49L |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,813,570 |
I406T |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,211,643 |
V642I |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,242,028 |
L2750F |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,674,700 |
T122A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,901,346 |
H567R |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,534,446 |
D729G |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,253,415 |
V1204L |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,309,026 |
Y344C |
probably damaging |
Het |
| Olfr1189 |
A |
G |
2: 88,592,004 |
M67V |
probably benign |
Het |
| Olfr348 |
A |
G |
2: 36,787,358 |
M278V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,622,310 |
S718P |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 109,106,579 |
V1061E |
probably benign |
Het |
| Rdh16f1 |
A |
G |
10: 127,788,677 |
Q128R |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 |
L57F |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,765,887 |
Q705L |
probably damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,400,724 |
C163S |
probably benign |
Het |
| Tigd2 |
A |
G |
6: 59,211,146 |
T333A |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,031,181 |
V1209A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,624,144 |
V722D |
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 |
|
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 |
|
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'- GCCTCTAGTAGCTTTAGCAGAG -3'
(R):5'- AGTGTCTGTTTGATACCCACTATG -3'
Sequencing Primer
(F):5'- AGCTTTAGCAGAGTCAGTGCC -3'
(R):5'- TTGATACCCACTATGTATCTCTGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation