Incidental Mutation 'R5510:Ap2b1'
ID |
431170 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap2b1
|
Ensembl Gene |
ENSMUSG00000035152 |
Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
Synonyms |
1300012O03Rik |
MMRRC Submission |
043071-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5510 (G1)
|
Quality Score |
216 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 83227563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
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: 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: ENSMUST00000132178
|
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 |
|
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 |
0.9755 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.1%
|
Validation Efficiency |
99% (91/92) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
G |
3: 151,203,467 (GRCm39) |
I59R |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,593,363 (GRCm39) |
D4208V |
probably damaging |
Het |
Aimp2 |
A |
T |
5: 143,843,347 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ankib1 |
A |
G |
5: 3,779,693 (GRCm39) |
V392A |
probably benign |
Het |
Arsg |
A |
G |
11: 109,418,700 (GRCm39) |
E232G |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,162,920 (GRCm39) |
F144S |
probably benign |
Het |
Bud13 |
T |
A |
9: 46,203,498 (GRCm39) |
M111K |
probably damaging |
Het |
Cav2 |
T |
C |
6: 17,287,012 (GRCm39) |
F152S |
possibly damaging |
Het |
Ccdc180 |
A |
G |
4: 45,928,046 (GRCm39) |
T1194A |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,911,290 (GRCm39) |
K848R |
probably damaging |
Het |
Ceacam15 |
A |
G |
7: 16,406,024 (GRCm39) |
W176R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,415,100 (GRCm39) |
D136E |
probably benign |
Het |
Dclk2 |
T |
C |
3: 86,813,344 (GRCm39) |
I201V |
possibly damaging |
Het |
Defa24 |
T |
A |
8: 22,224,612 (GRCm39) |
D20E |
probably damaging |
Het |
Dgcr8 |
T |
C |
16: 18,095,039 (GRCm39) |
N566D |
probably damaging |
Het |
Dido1 |
C |
A |
2: 180,326,966 (GRCm39) |
V386L |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dtx3 |
G |
A |
10: 127,028,807 (GRCm39) |
P141S |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,734,113 (GRCm39) |
L535P |
probably damaging |
Het |
Gimap3 |
T |
A |
6: 48,742,183 (GRCm39) |
E249V |
possibly damaging |
Het |
Git2 |
A |
T |
5: 114,881,835 (GRCm39) |
|
probably null |
Het |
Gm4922 |
T |
C |
10: 18,659,745 (GRCm39) |
T326A |
probably benign |
Het |
Gsdmc2 |
T |
G |
15: 63,700,045 (GRCm39) |
E242D |
probably benign |
Het |
Hdgfl2 |
G |
A |
17: 56,389,118 (GRCm39) |
G31S |
possibly damaging |
Het |
Herc2 |
A |
T |
7: 55,856,519 (GRCm39) |
I3956F |
probably damaging |
Het |
Hsf2bp |
G |
A |
17: 32,165,721 (GRCm39) |
R134C |
unknown |
Het |
Igf1r |
G |
C |
7: 67,843,107 (GRCm39) |
R739S |
probably benign |
Het |
Igkv4-51 |
T |
C |
6: 69,658,443 (GRCm39) |
E102G |
probably damaging |
Het |
Kif1a |
T |
G |
1: 92,969,414 (GRCm39) |
I1156L |
possibly damaging |
Het |
Kti12 |
T |
C |
4: 108,705,821 (GRCm39) |
L245S |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,181,700 (GRCm39) |
S17P |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mrps18b |
A |
G |
17: 36,225,215 (GRCm39) |
|
probably benign |
Het |
Ms4a8a |
A |
G |
19: 11,056,828 (GRCm39) |
S85P |
probably benign |
Het |
Msln |
T |
C |
17: 25,968,847 (GRCm39) |
Q487R |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,228,549 (GRCm39) |
N363S |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,152,942 (GRCm39) |
F192L |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,634,383 (GRCm39) |
D688G |
probably damaging |
Het |
Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
Or12d15 |
A |
T |
17: 37,694,192 (GRCm39) |
M245L |
probably benign |
Het |
Or1j16 |
G |
A |
2: 36,530,975 (GRCm39) |
R308K |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,332 (GRCm39) |
A2T |
probably benign |
Het |
Phf11a |
C |
A |
14: 59,516,834 (GRCm39) |
C208F |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,874,275 (GRCm39) |
C520Y |
probably benign |
Het |
Plxna4 |
C |
A |
6: 32,155,293 (GRCm39) |
M1550I |
probably damaging |
Het |
Pnpla6 |
A |
T |
8: 3,571,397 (GRCm39) |
Y140F |
probably damaging |
Het |
Ppp1r12a |
T |
A |
10: 108,085,488 (GRCm39) |
S478T |
possibly damaging |
Het |
Prkcz |
C |
A |
4: 155,357,393 (GRCm39) |
|
probably null |
Het |
Prss55 |
T |
A |
14: 64,314,574 (GRCm39) |
M199L |
probably damaging |
Het |
Qrich1 |
G |
A |
9: 108,433,659 (GRCm39) |
V651I |
possibly damaging |
Het |
Ralyl |
T |
C |
3: 13,842,005 (GRCm39) |
V47A |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,562,105 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,123,383 (GRCm39) |
Y389H |
probably damaging |
Het |
Sec24b |
C |
A |
3: 129,834,544 (GRCm39) |
G82V |
probably damaging |
Het |
Sema4a |
A |
G |
3: 88,357,293 (GRCm39) |
|
probably null |
Het |
Slc25a11 |
A |
T |
11: 70,536,361 (GRCm39) |
W149R |
probably damaging |
Het |
Slc2a7 |
T |
G |
4: 150,244,551 (GRCm39) |
S340A |
probably benign |
Het |
Slc32a1 |
T |
A |
2: 158,456,716 (GRCm39) |
M457K |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,234 (GRCm39) |
|
probably null |
Het |
Spint4 |
C |
T |
2: 164,542,812 (GRCm39) |
T135M |
probably damaging |
Het |
Sult2a2 |
A |
C |
7: 13,472,228 (GRCm39) |
N142H |
probably damaging |
Het |
Tbc1d1 |
G |
A |
5: 64,490,738 (GRCm39) |
G863D |
probably damaging |
Het |
Tmem156 |
G |
A |
5: 65,232,917 (GRCm39) |
T151M |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,746,401 (GRCm39) |
Q459R |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,605,095 (GRCm39) |
C136Y |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,545 (GRCm39) |
V79M |
possibly damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,801,023 (GRCm39) |
D304E |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,399,779 (GRCm39) |
F123I |
probably damaging |
Het |
Zfp672 |
A |
T |
11: 58,207,456 (GRCm39) |
C288* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,769 (GRCm39) |
Y90C |
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 |
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 |
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 |
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'- TGGCATTCAGAAGGTCATGG -3'
(R):5'- TGAACACTCACAATCCCATATGTGC -3'
Sequencing Primer
(F):5'- CATTCAGAAGGTCATGGAATTGCTG -3'
(R):5'- ATATGTGCGATCTCATCTCCTGGG -3'
|
Posted On |
2016-10-05 |