Incidental Mutation 'R1297:Ap2b1'
ID |
158185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap2b1
|
Ensembl Gene |
ENSMUSG00000035152 |
Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
Synonyms |
1300012O03Rik |
MMRRC Submission |
039363-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1297 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83223935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 217
(W217R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
AlphaFold |
Q9DBG3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018875
AA Change: W217R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018875 Gene: ENSMUSG00000035152 AA Change: W217R
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: W217R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152 AA Change: W217R
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: W217R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152 AA Change: W217R
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: W179R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152 AA Change: W179R
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 |
0.9503 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
100% (37/37) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
probably benign |
Het |
|
Other mutations in Ap2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00864:Ap2b1
|
APN |
11 |
83,223,984 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01583:Ap2b1
|
APN |
11 |
83,215,437 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01753:Ap2b1
|
APN |
11 |
83,212,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01992:Ap2b1
|
APN |
11 |
83,226,356 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:Ap2b1
|
APN |
11 |
83,237,592 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02315:Ap2b1
|
APN |
11 |
83,227,625 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03235:Ap2b1
|
APN |
11 |
83,232,210 (GRCm39) |
missense |
probably benign |
0.41 |
P0045:Ap2b1
|
UTSW |
11 |
83,258,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0121:Ap2b1
|
UTSW |
11 |
83,212,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0334:Ap2b1
|
UTSW |
11 |
83,258,700 (GRCm39) |
splice site |
probably benign |
|
R1222:Ap2b1
|
UTSW |
11 |
83,237,564 (GRCm39) |
missense |
probably benign |
0.06 |
R1653:Ap2b1
|
UTSW |
11 |
83,237,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Ap2b1
|
UTSW |
11 |
83,215,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R1886:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R1965:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1966:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
R2046:Ap2b1
|
UTSW |
11 |
83,227,212 (GRCm39) |
missense |
probably benign |
0.14 |
R2086:Ap2b1
|
UTSW |
11 |
83,241,944 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2132:Ap2b1
|
UTSW |
11 |
83,215,587 (GRCm39) |
splice site |
probably benign |
|
R3615:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3616:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3983:Ap2b1
|
UTSW |
11 |
83,281,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R4124:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4125:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4198:Ap2b1
|
UTSW |
11 |
83,233,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4202:Ap2b1
|
UTSW |
11 |
83,226,430 (GRCm39) |
critical splice donor site |
probably null |
|
R4543:Ap2b1
|
UTSW |
11 |
83,215,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Ap2b1
|
UTSW |
11 |
83,288,605 (GRCm39) |
missense |
probably benign |
0.00 |
R4589:Ap2b1
|
UTSW |
11 |
83,223,837 (GRCm39) |
nonsense |
probably null |
|
R4916:Ap2b1
|
UTSW |
11 |
83,281,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R5005:Ap2b1
|
UTSW |
11 |
83,230,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Ap2b1
|
UTSW |
11 |
83,233,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R5510:Ap2b1
|
UTSW |
11 |
83,227,563 (GRCm39) |
splice site |
probably null |
|
R5738:Ap2b1
|
UTSW |
11 |
83,227,256 (GRCm39) |
splice site |
probably null |
|
R6023:Ap2b1
|
UTSW |
11 |
83,226,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R6269:Ap2b1
|
UTSW |
11 |
83,237,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Ap2b1
|
UTSW |
11 |
83,237,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Ap2b1
|
UTSW |
11 |
83,199,065 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R6502:Ap2b1
|
UTSW |
11 |
83,233,505 (GRCm39) |
missense |
probably damaging |
0.97 |
R6810:Ap2b1
|
UTSW |
11 |
83,226,317 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6969:Ap2b1
|
UTSW |
11 |
83,280,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R7238:Ap2b1
|
UTSW |
11 |
83,223,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7241:Ap2b1
|
UTSW |
11 |
83,241,931 (GRCm39) |
missense |
probably benign |
0.16 |
R7429:Ap2b1
|
UTSW |
11 |
83,258,824 (GRCm39) |
missense |
probably benign |
0.00 |
R7588:Ap2b1
|
UTSW |
11 |
83,215,348 (GRCm39) |
missense |
probably benign |
0.00 |
R7635:Ap2b1
|
UTSW |
11 |
83,280,554 (GRCm39) |
missense |
probably benign |
0.09 |
R7651:Ap2b1
|
UTSW |
11 |
83,230,256 (GRCm39) |
critical splice donor site |
probably null |
|
R7753:Ap2b1
|
UTSW |
11 |
83,258,733 (GRCm39) |
nonsense |
probably null |
|
R8468:Ap2b1
|
UTSW |
11 |
83,241,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Ap2b1
|
UTSW |
11 |
83,237,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R9093:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Ap2b1
|
UTSW |
11 |
83,293,424 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ap2b1
|
UTSW |
11 |
83,256,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGGTAGAGTGCTTAGGAGTGAC -3'
(R):5'- CCCAAATGATTGGGAACTGGGAGAC -3'
Sequencing Primer
(F):5'- TTGTGAGGTGATCCTAGAAGAC -3'
(R):5'- TAGGGATAGCAATGTCCCCCTAAG -3'
|
Posted On |
2014-02-18 |