Incidental Mutation 'R4589:Ap2b1'
ID |
342690 |
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 # |
R4589 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 83223837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 184
(L184*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134798
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
AlphaFold |
Q9DBG3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018875
AA Change: L184*
|
SMART Domains |
Protein: ENSMUSP00000018875 Gene: ENSMUSG00000035152 AA Change: L184*
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
AA Change: L184*
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152 AA Change: L184*
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
AA Change: L184*
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152 AA Change: L184*
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
AA Change: L146*
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152 AA Change: L146*
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: ENSMUST00000176944
AA Change: L184*
|
SMART Domains |
Protein: ENSMUSP00000134798 Gene: ENSMUSG00000035152 AA Change: L184*
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
G |
T |
16: 14,211,895 (GRCm39) |
V157L |
probably benign |
Het |
Actn1 |
G |
A |
12: 80,218,573 (GRCm39) |
T737I |
possibly damaging |
Het |
Ada |
T |
C |
2: 163,574,868 (GRCm39) |
K90E |
possibly damaging |
Het |
Arfgef3 |
T |
C |
10: 18,521,947 (GRCm39) |
D693G |
probably damaging |
Het |
Arid4a |
A |
T |
12: 71,116,738 (GRCm39) |
I277F |
probably damaging |
Het |
Armh4 |
A |
G |
14: 50,011,039 (GRCm39) |
S223P |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,467,855 (GRCm39) |
S67G |
probably benign |
Het |
Ccr5 |
T |
A |
9: 123,924,539 (GRCm39) |
F47L |
probably benign |
Het |
Clip4 |
T |
A |
17: 72,117,862 (GRCm39) |
C302* |
probably null |
Het |
Cyth1 |
C |
T |
11: 118,075,811 (GRCm39) |
V142I |
possibly damaging |
Het |
Ddx59 |
T |
A |
1: 136,367,480 (GRCm39) |
|
probably null |
Het |
Def6 |
G |
T |
17: 28,447,121 (GRCm39) |
R584L |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,553,743 (GRCm39) |
Y340* |
probably null |
Het |
Eif2ak4 |
T |
G |
2: 118,247,819 (GRCm39) |
C173W |
probably damaging |
Het |
Gm14403 |
C |
T |
2: 177,200,428 (GRCm39) |
H125Y |
probably benign |
Het |
Grk3 |
T |
C |
5: 113,089,584 (GRCm39) |
I323V |
possibly damaging |
Het |
Homez |
G |
T |
14: 55,094,487 (GRCm39) |
T407K |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,037,910 (GRCm39) |
T763A |
probably damaging |
Het |
Ighg2b |
A |
T |
12: 113,270,104 (GRCm39) |
W305R |
unknown |
Het |
Il27ra |
G |
T |
8: 84,763,038 (GRCm39) |
N296K |
probably damaging |
Het |
Lzic |
G |
T |
4: 149,572,561 (GRCm39) |
L50F |
probably damaging |
Het |
Mbtd1 |
T |
C |
11: 93,812,245 (GRCm39) |
V183A |
probably damaging |
Het |
Mme |
T |
A |
3: 63,287,693 (GRCm39) |
D731E |
probably benign |
Het |
Mocos |
T |
C |
18: 24,787,095 (GRCm39) |
L38P |
probably damaging |
Het |
Mrps18a |
T |
C |
17: 46,428,899 (GRCm39) |
|
probably null |
Het |
Msh2 |
T |
A |
17: 87,987,460 (GRCm39) |
V200D |
possibly damaging |
Het |
Mug1 |
A |
T |
6: 121,834,310 (GRCm39) |
I364F |
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,414,749 (GRCm39) |
S2554R |
probably benign |
Het |
Nat10 |
A |
G |
2: 103,584,415 (GRCm39) |
C121R |
probably damaging |
Het |
Nfatc3 |
T |
A |
8: 106,805,705 (GRCm39) |
D183E |
probably damaging |
Het |
Odr4 |
C |
T |
1: 150,260,238 (GRCm39) |
V127I |
probably benign |
Het |
Or4d10c |
T |
C |
19: 12,065,305 (GRCm39) |
I284V |
possibly damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,639 (GRCm39) |
F282L |
probably damaging |
Het |
Or52h1 |
C |
A |
7: 103,828,636 (GRCm39) |
|
probably null |
Het |
Or5d14 |
T |
C |
2: 87,880,823 (GRCm39) |
I48M |
probably benign |
Het |
Pak6 |
T |
A |
2: 118,527,021 (GRCm39) |
I672K |
probably damaging |
Het |
Pan3 |
A |
T |
5: 147,479,983 (GRCm39) |
I830F |
probably damaging |
Het |
Pcdh9 |
A |
T |
14: 94,125,628 (GRCm39) |
L181I |
probably damaging |
Het |
Pigg |
G |
A |
5: 108,480,556 (GRCm39) |
A447T |
probably benign |
Het |
Pitpnb |
T |
A |
5: 111,519,214 (GRCm39) |
S165T |
probably damaging |
Het |
Pla2g2a |
A |
G |
4: 138,560,590 (GRCm39) |
Y67C |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,688,928 (GRCm39) |
I80T |
probably damaging |
Het |
Pnma1 |
A |
G |
12: 84,194,235 (GRCm39) |
I156T |
probably benign |
Het |
Prss21 |
G |
T |
17: 24,091,796 (GRCm39) |
D255Y |
possibly damaging |
Het |
Prune1 |
T |
A |
3: 95,169,642 (GRCm39) |
I187F |
possibly damaging |
Het |
Rab7b |
T |
C |
1: 131,633,385 (GRCm39) |
F78L |
probably benign |
Het |
Riok3 |
T |
A |
18: 12,269,844 (GRCm39) |
Y92N |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,768,361 (GRCm39) |
S400P |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,705,478 (GRCm39) |
G792V |
probably damaging |
Het |
Septin3 |
A |
G |
15: 82,170,092 (GRCm39) |
E206G |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,840,679 (GRCm39) |
S454P |
probably damaging |
Het |
Tdh |
A |
T |
14: 63,733,326 (GRCm39) |
L140Q |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,047,401 (GRCm39) |
H159Q |
probably damaging |
Het |
Tmed6 |
C |
T |
8: 107,790,793 (GRCm39) |
V85I |
probably benign |
Het |
Vmn1r174 |
T |
A |
7: 23,454,204 (GRCm39) |
L290* |
probably null |
Het |
Vmn1r31 |
A |
G |
6: 58,449,596 (GRCm39) |
S90P |
probably damaging |
Het |
Vmn2r55 |
T |
C |
7: 12,404,822 (GRCm39) |
T194A |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,192,548 (GRCm39) |
I42F |
probably damaging |
Het |
Vps35 |
G |
A |
8: 86,014,331 (GRCm39) |
P106L |
probably damaging |
Het |
Xrcc6 |
T |
A |
15: 81,906,661 (GRCm39) |
Y69N |
probably damaging |
Het |
Zbtb14 |
C |
T |
17: 69,695,465 (GRCm39) |
P388S |
probably damaging |
Het |
Zfp541 |
C |
T |
7: 15,817,261 (GRCm39) |
A902V |
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 |
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 |
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'- TCATTGCTGGCTTAGTACCTG -3'
(R):5'- TCAGGCAAGACCATCAGCTG -3'
Sequencing Primer
(F):5'- ACCTGTTTTGAAGGCAGCC -3'
(R):5'- GCTGATACCCACATAGGTAGACTG -3'
|
Posted On |
2015-09-24 |