Incidental Mutation 'R1222:Ap2b1'
| ID |
152775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
039291-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83237564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 543
(S543P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018875
AA Change: S543P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: S543P
| 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
AA Change: S543P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: S543P
| 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 benign
Transcript: ENSMUST00000176430
AA Change: S543P
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: S543P
| 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: S505P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: S505P
| 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 |
|
| Meta Mutation Damage Score |
0.0783 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
96% (54/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,682 (GRCm39) |
L385* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,035,890 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,691,006 (GRCm39) |
S842P |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,842 (GRCm39) |
V483L |
probably damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,938,824 (GRCm39) |
C365* |
probably null |
Het |
| Atic |
C |
T |
1: 71,598,438 (GRCm39) |
T67I |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cux1 |
C |
T |
5: 136,304,003 (GRCm39) |
R1391Q |
probably benign |
Het |
| Cyp2a4 |
T |
C |
7: 26,008,013 (GRCm39) |
V140A |
possibly damaging |
Het |
| Dlgap3 |
A |
T |
4: 127,088,406 (GRCm39) |
M1L |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,689,899 (GRCm39) |
D2G |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,407,534 (GRCm39) |
V938G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,707 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
G |
A |
6: 88,177,323 (GRCm39) |
V118I |
probably benign |
Het |
| Gm2663 |
T |
C |
6: 40,972,975 (GRCm39) |
I211V |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,033,284 (GRCm39) |
N104I |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,908,887 (GRCm39) |
H142L |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,682 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
| Mylk |
T |
C |
16: 34,681,022 (GRCm39) |
V94A |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,760 (GRCm39) |
N396K |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,100,998 (GRCm39) |
S263P |
probably benign |
Het |
| Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,798,240 (GRCm39) |
L26H |
probably damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,313 (GRCm39) |
I292F |
probably damaging |
Het |
| Or7d10 |
G |
A |
9: 19,832,344 (GRCm39) |
V280I |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,637,680 (GRCm39) |
R368S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,482,957 (GRCm39) |
D1550G |
probably damaging |
Het |
| Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,191,953 (GRCm39) |
T1496S |
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,080 (GRCm39) |
L111P |
probably benign |
Het |
| Selplg |
C |
T |
5: 113,957,434 (GRCm39) |
V291M |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,080,934 (GRCm39) |
T50S |
possibly damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,257,114 (GRCm39) |
K640E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,262,656 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Taar4 |
C |
T |
10: 23,837,230 (GRCm39) |
T280I |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,395,948 (GRCm39) |
N527S |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,725,131 (GRCm39) |
T218S |
possibly damaging |
Het |
| Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,115,782 (GRCm39) |
|
probably null |
Het |
| Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,524 (GRCm39) |
H1037Q |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,658,520 (GRCm39) |
|
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 |
|
|
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'- GCTAATCTGCATAAGTCGCTACCACAG -3'
(R):5'- CACTTCTTGCTGAAGAGACCTCCAC -3'
Sequencing Primer
(F):5'- CAGTGCCATGACAGTAAGTCTG -3'
(R):5'- GAAGAGACCTCCACCTGCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation