Incidental Mutation 'R0334:Ap2b1'
| ID |
26146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
038543-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0334 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 83258700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
T |
C |
13: 95,508,105 (GRCm39) |
N87S |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,468,029 (GRCm39) |
Y1724H |
probably damaging |
Het |
| Arhgef10l |
G |
A |
4: 140,311,237 (GRCm39) |
Q243* |
probably null |
Het |
| Atp8a2 |
A |
T |
14: 59,928,961 (GRCm39) |
F1031Y |
probably damaging |
Het |
| Bmp8b |
A |
G |
4: 123,008,553 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
G |
T |
1: 158,123,155 (GRCm39) |
T37K |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,184,864 (GRCm39) |
L9* |
probably null |
Het |
| C6 |
T |
G |
15: 4,784,849 (GRCm39) |
N238K |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,838,130 (GRCm39) |
D373G |
probably damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,946,329 (GRCm39) |
F191S |
possibly damaging |
Het |
| Cpz |
A |
G |
5: 35,661,025 (GRCm39) |
V530A |
probably damaging |
Het |
| Ctsc |
G |
T |
7: 87,927,550 (GRCm39) |
S47I |
possibly damaging |
Het |
| Cyp7b1 |
T |
G |
3: 18,157,960 (GRCm39) |
Y53S |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Defb4 |
T |
C |
8: 19,251,220 (GRCm39) |
I29T |
probably benign |
Het |
| Disc1 |
A |
T |
8: 125,987,836 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,327,662 (GRCm39) |
M3429T |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,472,213 (GRCm39) |
I3518N |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,090,325 (GRCm39) |
H4609L |
probably damaging |
Het |
| Evi5 |
C |
A |
5: 107,968,401 (GRCm39) |
C182F |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,413,492 (GRCm39) |
R237H |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,440,536 (GRCm39) |
D174E |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,370,580 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gpr176 |
T |
C |
2: 118,110,189 (GRCm39) |
S357G |
probably benign |
Het |
| Grwd1 |
A |
T |
7: 45,476,601 (GRCm39) |
|
probably null |
Het |
| H2-T24 |
A |
G |
17: 36,325,772 (GRCm39) |
V273A |
possibly damaging |
Het |
| Hdac4 |
A |
C |
1: 91,883,760 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,895,802 (GRCm39) |
T1017A |
probably damaging |
Het |
| Hsd11b1 |
T |
C |
1: 192,924,476 (GRCm39) |
|
probably benign |
Het |
| Igsf23 |
T |
C |
7: 19,675,678 (GRCm39) |
S143G |
probably benign |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,888 (GRCm39) |
Y314F |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,508 (GRCm39) |
|
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,532,260 (GRCm39) |
I479M |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,058,068 (GRCm39) |
T600A |
probably damaging |
Het |
| Mrgprb2 |
A |
C |
7: 48,202,077 (GRCm39) |
I216S |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,933,614 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,461,084 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 89,780,412 (GRCm39) |
|
probably null |
Het |
| Or2ag2 |
A |
G |
7: 106,485,622 (GRCm39) |
V134A |
probably benign |
Het |
| Or8b54 |
A |
T |
9: 38,686,535 (GRCm39) |
|
probably null |
Het |
| Or8g26 |
A |
G |
9: 39,095,980 (GRCm39) |
I169V |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,284,760 (GRCm39) |
S66T |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,062,206 (GRCm39) |
E2604G |
probably damaging |
Het |
| Plekha6 |
G |
T |
1: 133,209,918 (GRCm39) |
A654S |
probably benign |
Het |
| Pnpla2 |
G |
A |
7: 141,039,433 (GRCm39) |
|
probably null |
Het |
| Pramel19 |
T |
C |
4: 101,798,781 (GRCm39) |
F251L |
probably benign |
Het |
| Prb1c |
T |
A |
6: 132,341,021 (GRCm39) |
Q17L |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,554,663 (GRCm39) |
D2128G |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,958,268 (GRCm39) |
L131Q |
probably damaging |
Het |
| Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
| Rnf139 |
A |
G |
15: 58,771,322 (GRCm39) |
Y449C |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,567,129 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,524,931 (GRCm39) |
V1058A |
possibly damaging |
Het |
| Sema3a |
A |
T |
5: 13,607,268 (GRCm39) |
N321I |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,469,928 (GRCm39) |
V310E |
probably damaging |
Het |
| Slitrk5 |
T |
C |
14: 111,918,256 (GRCm39) |
S627P |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,113,736 (GRCm39) |
F172I |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,352,923 (GRCm39) |
R788S |
unknown |
Het |
| Tnks |
T |
A |
8: 35,320,413 (GRCm39) |
K753* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,194,421 (GRCm39) |
V815D |
probably benign |
Het |
| Trank1 |
T |
A |
9: 111,222,008 (GRCm39) |
I2915N |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,610,344 (GRCm39) |
S271P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,640,613 (GRCm39) |
Q213R |
probably benign |
Het |
| Ulk3 |
C |
T |
9: 57,501,510 (GRCm39) |
|
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
| Wnt3a |
A |
G |
11: 59,147,144 (GRCm39) |
S181P |
probably damaging |
Het |
| Yipf3 |
T |
C |
17: 46,559,238 (GRCm39) |
F22S |
possibly damaging |
Het |
| Zbtb40 |
A |
T |
4: 136,713,867 (GRCm39) |
H1094Q |
probably damaging |
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 |
|
R1222:Ap2b1
|
UTSW |
11 |
83,237,564 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1297:Ap2b1
|
UTSW |
11 |
83,223,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCCTAACAGAAACATGGTACTCATCG -3'
(R):5'- CGTCAAACCCAGGATGTTGCTTCTTAC -3'
Sequencing Primer
(F):5'- ACATGGTACTCATCGGAATGTC -3'
(R):5'- CCTATTCTTGTTAAACTGGATGGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation