Incidental Mutation 'R2046:Ap2b1'
ID |
221999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap2b1
|
Ensembl Gene |
ENSMUSG00000035152 |
Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
Synonyms |
1300012O03Rik |
MMRRC Submission |
040053-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2046 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83227212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 328
(Y328F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
AlphaFold |
Q9DBG3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018875
AA Change: Y328F
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000018875 Gene: ENSMUSG00000035152 AA Change: Y328F
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: Y328F
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000070714 Gene: ENSMUSG00000035152 AA Change: Y328F
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: Y328F
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000134779 Gene: ENSMUSG00000035152 AA Change: Y328F
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: Y290F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135445 Gene: ENSMUSG00000035152 AA Change: Y290F
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 |
0.2569 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (71/73) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
A |
18: 70,600,553 (GRCm39) |
D84V |
probably damaging |
Het |
Abcc5 |
A |
T |
16: 20,218,567 (GRCm39) |
S272T |
possibly damaging |
Het |
Adgre4 |
A |
G |
17: 56,085,847 (GRCm39) |
N49D |
possibly damaging |
Het |
Arhgef33 |
G |
C |
17: 80,680,895 (GRCm39) |
E678D |
probably benign |
Het |
Arid2 |
G |
A |
15: 96,267,268 (GRCm39) |
V583I |
probably damaging |
Het |
Bdkrb1 |
T |
A |
12: 105,570,985 (GRCm39) |
S184T |
probably benign |
Het |
Bend3 |
T |
C |
10: 43,387,842 (GRCm39) |
F745S |
probably damaging |
Het |
Card10 |
A |
T |
15: 78,671,673 (GRCm39) |
V597E |
possibly damaging |
Het |
Casp3 |
T |
A |
8: 47,082,761 (GRCm39) |
|
probably benign |
Het |
Ccnb2 |
A |
G |
9: 70,316,629 (GRCm39) |
V340A |
probably benign |
Het |
Cdkl3 |
G |
T |
11: 51,917,677 (GRCm39) |
V325L |
probably benign |
Het |
Clec4n |
T |
A |
6: 123,223,463 (GRCm39) |
N153K |
probably benign |
Het |
Crtac1 |
C |
T |
19: 42,322,492 (GRCm39) |
V83I |
probably damaging |
Het |
Cul9 |
C |
A |
17: 46,854,659 (GRCm39) |
L14F |
probably damaging |
Het |
Dgka |
T |
C |
10: 128,559,404 (GRCm39) |
Y519C |
probably damaging |
Het |
Dhrs7 |
T |
G |
12: 72,699,040 (GRCm39) |
K314T |
possibly damaging |
Het |
Dnaaf9 |
T |
A |
2: 130,652,837 (GRCm39) |
I42L |
possibly damaging |
Het |
Dnah10 |
G |
T |
5: 124,873,405 (GRCm39) |
K2542N |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,049,591 (GRCm39) |
V731E |
probably benign |
Het |
Dpy19l1 |
T |
A |
9: 24,334,455 (GRCm39) |
H571L |
probably damaging |
Het |
Dzip1 |
A |
T |
14: 119,159,890 (GRCm39) |
I106N |
probably damaging |
Het |
Eif2ak4 |
A |
T |
2: 118,281,889 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,483,799 (GRCm39) |
Y70C |
probably damaging |
Het |
Eps15 |
T |
C |
4: 109,227,793 (GRCm39) |
F344S |
probably damaging |
Het |
Erbb4 |
C |
T |
1: 68,337,482 (GRCm39) |
R612Q |
probably benign |
Het |
Fam83h |
T |
C |
15: 75,874,787 (GRCm39) |
H850R |
probably benign |
Het |
Fancg |
A |
G |
4: 43,004,604 (GRCm39) |
C484R |
probably damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,538 (GRCm39) |
I449T |
probably damaging |
Het |
Gm10647 |
A |
G |
9: 66,705,519 (GRCm39) |
|
probably benign |
Het |
Iigp1c |
T |
A |
18: 60,378,571 (GRCm39) |
H35Q |
probably benign |
Het |
Itga11 |
C |
T |
9: 62,634,979 (GRCm39) |
L86F |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,017,511 (GRCm39) |
R492H |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,486,580 (GRCm39) |
V325A |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,710,526 (GRCm39) |
I47F |
probably benign |
Het |
Nek9 |
T |
A |
12: 85,367,481 (GRCm39) |
|
probably benign |
Het |
Nelfb |
T |
A |
2: 25,096,323 (GRCm39) |
N262I |
probably damaging |
Het |
Neurl4 |
A |
G |
11: 69,799,523 (GRCm39) |
D942G |
probably damaging |
Het |
Nipbl |
G |
A |
15: 8,353,951 (GRCm39) |
P1729S |
probably benign |
Het |
Nr4a3 |
A |
G |
4: 48,067,807 (GRCm39) |
T468A |
possibly damaging |
Het |
Nrm |
G |
A |
17: 36,175,109 (GRCm39) |
V146I |
probably benign |
Het |
Or8h9 |
C |
A |
2: 86,789,077 (GRCm39) |
A242S |
possibly damaging |
Het |
Pitx3 |
T |
C |
19: 46,125,618 (GRCm39) |
E42G |
possibly damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,726,694 (GRCm39) |
A2271T |
probably damaging |
Het |
Pofut2 |
A |
G |
10: 77,096,428 (GRCm39) |
N51S |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,722,103 (GRCm39) |
E273G |
probably benign |
Het |
Psme4 |
A |
G |
11: 30,767,723 (GRCm39) |
|
probably benign |
Het |
Pus7l |
T |
C |
15: 94,438,666 (GRCm39) |
I60V |
probably benign |
Het |
Pygo2 |
T |
A |
3: 89,340,455 (GRCm39) |
N284K |
possibly damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,741,945 (GRCm39) |
C1368Y |
probably damaging |
Het |
Rbm45 |
G |
A |
2: 76,205,742 (GRCm39) |
G198E |
probably benign |
Het |
Reln |
T |
C |
5: 22,147,625 (GRCm39) |
I2442V |
probably benign |
Het |
Rmi1 |
T |
C |
13: 58,555,772 (GRCm39) |
V7A |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,310,884 (GRCm39) |
L538P |
probably benign |
Het |
Rsph4a |
T |
G |
10: 33,790,539 (GRCm39) |
|
probably benign |
Het |
Sardh |
A |
T |
2: 27,105,094 (GRCm39) |
D676E |
possibly damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,914 (GRCm39) |
M892V |
probably benign |
Het |
Slc38a11 |
A |
G |
2: 65,188,529 (GRCm39) |
F80S |
probably damaging |
Het |
Slc6a2 |
C |
A |
8: 93,699,554 (GRCm39) |
S194* |
probably null |
Het |
Slco2b1 |
A |
G |
7: 99,339,686 (GRCm39) |
F86L |
probably damaging |
Het |
Smc3 |
G |
A |
19: 53,627,845 (GRCm39) |
D875N |
probably benign |
Het |
Sp100 |
G |
A |
1: 85,636,786 (GRCm39) |
E575K |
possibly damaging |
Het |
Spns2 |
A |
G |
11: 72,349,866 (GRCm39) |
L196P |
possibly damaging |
Het |
Taf8 |
A |
G |
17: 47,801,201 (GRCm39) |
S261P |
probably benign |
Het |
Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,738,138 (GRCm39) |
V4134F |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,089,124 (GRCm39) |
T360A |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,950,375 (GRCm39) |
C935S |
probably damaging |
Het |
Vps37d |
T |
A |
5: 135,102,831 (GRCm39) |
M134L |
probably benign |
Het |
Vwa2 |
T |
G |
19: 56,894,010 (GRCm39) |
V329G |
probably benign |
Het |
Zfp110 |
A |
G |
7: 12,583,349 (GRCm39) |
R666G |
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 |
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'- TTACGAGGGTTTTCCGCCTG -3'
(R):5'- GTGGCATATTCCTTCAGCTCCG -3'
Sequencing Primer
(F):5'- TTTTCCGCCTGAAGAGGGC -3'
(R):5'- CTTTGGAAGAGAACTGAGCCATCTC -3'
|
Posted On |
2014-08-25 |