Incidental Mutation 'R6416:Ap2b1'
| ID |
517950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
044558-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 83308239 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000142680]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018875
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: M1K
| 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: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: M1K
| 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: ENSMUST00000142680
AA Change: M1K
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176430
AA Change: M1K
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: M1K
| 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: M1K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: M1K
| 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: M1K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: M1K
| 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: 100.0%
- 3x: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
C |
A |
16: 88,707,891 (GRCm38) |
R6L |
unknown |
Het |
| Anxa11 |
A |
G |
14: 25,874,270 (GRCm38) |
Q235R |
possibly damaging |
Het |
| Atl2 |
G |
A |
17: 79,850,223 (GRCm38) |
T563I |
probably benign |
Het |
| Azin1 |
A |
T |
15: 38,492,343 (GRCm38) |
S307R |
possibly damaging |
Het |
| Ccdc153 |
A |
G |
9: 44,245,780 (GRCm38) |
T118A |
probably benign |
Het |
| Chac1 |
G |
A |
2: 119,353,534 (GRCm38) |
V206I |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,877,662 (GRCm38) |
V446A |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,123,649 (GRCm38) |
F467S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,673,560 (GRCm38) |
P82L |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 61,998,681 (GRCm38) |
H1202Y |
probably benign |
Het |
| Ddx60 |
T |
A |
8: 61,977,950 (GRCm38) |
S840T |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,765,635 (GRCm38) |
N3102K |
probably benign |
Het |
| Dst |
A |
T |
1: 34,116,128 (GRCm38) |
K85M |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,718,757 (GRCm38) |
I839M |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,537,653 (GRCm38) |
M750L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,572,378 (GRCm38) |
T1965A |
probably benign |
Het |
| Ftl1 |
A |
T |
7: 45,459,210 (GRCm38) |
D41E |
probably benign |
Het |
| Garem2 |
G |
A |
5: 30,116,737 (GRCm38) |
W698* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,652,906 (GRCm38) |
Y283C |
probably damaging |
Het |
| Hars |
T |
C |
18: 36,773,590 (GRCm38) |
E109G |
possibly damaging |
Het |
| Hspb9 |
T |
C |
11: 100,714,210 (GRCm38) |
S121P |
probably damaging |
Het |
| Hus1b |
A |
T |
13: 30,947,205 (GRCm38) |
L157Q |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,946,359 (GRCm38) |
M322V |
probably benign |
Het |
| Igkv4-61 |
C |
A |
6: 69,417,154 (GRCm38) |
A31S |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,777,907 (GRCm38) |
M116L |
probably benign |
Het |
| Kif22 |
T |
C |
7: 127,028,932 (GRCm38) |
K9E |
possibly damaging |
Het |
| Krt90 |
T |
C |
15: 101,559,244 (GRCm38) |
E233G |
probably benign |
Het |
| Lipg |
T |
C |
18: 74,957,236 (GRCm38) |
M81V |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,701,456 (GRCm38) |
S850L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,082,754 (GRCm38) |
S1364T |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,185,328 (GRCm38) |
N208K |
probably benign |
Het |
| Oca2 |
G |
T |
7: 56,328,767 (GRCm38) |
R561L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 104,154,053 (GRCm38) |
L401P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,467,080 (GRCm38) |
Y291* |
probably null |
Het |
| Olfr1238 |
C |
A |
2: 89,406,522 (GRCm38) |
A186S |
possibly damaging |
Het |
| Olfr331 |
T |
C |
11: 58,502,340 (GRCm38) |
D72G |
probably damaging |
Het |
| Olfr828 |
G |
A |
9: 18,815,892 (GRCm38) |
T134M |
probably benign |
Het |
| Olfr952 |
T |
A |
9: 39,426,891 (GRCm38) |
Y60F |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,022,448 (GRCm38) |
N116D |
probably damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,012,169 (GRCm38) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,358,322 (GRCm38) |
I418V |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,618,609 (GRCm38) |
V62A |
probably benign |
Het |
| Pkib |
T |
A |
10: 57,728,138 (GRCm38) |
V46E |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,728,287 (GRCm38) |
|
probably null |
Het |
| Rbak |
G |
T |
5: 143,176,552 (GRCm38) |
Q19K |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,576,961 (GRCm38) |
T32A |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,167,873 (GRCm38) |
W835R |
probably damaging |
Het |
| Sis |
T |
G |
3: 72,911,854 (GRCm38) |
K1456N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,179,729 (GRCm38) |
N675I |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,315,627 (GRCm38) |
M139I |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,802,759 (GRCm38) |
F1182S |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,971,921 (GRCm38) |
I96N |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,822,057 (GRCm38) |
S79P |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,375,267 (GRCm38) |
V698M |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,411,139 (GRCm38) |
S150P |
probably damaging |
Het |
| Tjp1 |
C |
T |
7: 65,313,205 (GRCm38) |
D995N |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 89,147,794 (GRCm38) |
T365S |
probably benign |
Het |
| Tmem174 |
T |
C |
13: 98,636,981 (GRCm38) |
T114A |
probably benign |
Het |
| Tnc |
A |
G |
4: 64,007,816 (GRCm38) |
I909T |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,241,330 (GRCm38) |
I62V |
possibly damaging |
Het |
| Tulp1 |
A |
T |
17: 28,356,031 (GRCm38) |
*487K |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,131,646 (GRCm38) |
V1826E |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,174,116 (GRCm38) |
N238K |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,637,738 (GRCm38) |
N298Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,712,902 (GRCm38) |
F246I |
probably damaging |
Het |
| Vps9d1 |
A |
C |
8: 123,248,639 (GRCm38) |
V194G |
probably damaging |
Het |
| Zfp260 |
A |
T |
7: 30,104,810 (GRCm38) |
H45L |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,593,720 (GRCm38) |
H292L |
possibly damaging |
Het |
|
| Other mutations in Ap2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Ap2b1
|
APN |
11 |
83,333,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01583:Ap2b1
|
APN |
11 |
83,324,611 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL01753:Ap2b1
|
APN |
11 |
83,321,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01992:Ap2b1
|
APN |
11 |
83,335,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02192:Ap2b1
|
APN |
11 |
83,346,766 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02315:Ap2b1
|
APN |
11 |
83,336,799 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03235:Ap2b1
|
APN |
11 |
83,341,384 (GRCm38) |
missense |
probably benign |
0.41 |
|
P0045:Ap2b1
|
UTSW |
11 |
83,368,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0121:Ap2b1
|
UTSW |
11 |
83,321,967 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0334:Ap2b1
|
UTSW |
11 |
83,367,874 (GRCm38) |
splice site |
probably benign |
|
|
R1222:Ap2b1
|
UTSW |
11 |
83,346,738 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1297:Ap2b1
|
UTSW |
11 |
83,333,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1653:Ap2b1
|
UTSW |
11 |
83,346,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1719:Ap2b1
|
UTSW |
11 |
83,324,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1885:Ap2b1
|
UTSW |
11 |
83,390,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1886:Ap2b1
|
UTSW |
11 |
83,390,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1965:Ap2b1
|
UTSW |
11 |
83,346,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1966:Ap2b1
|
UTSW |
11 |
83,346,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2046:Ap2b1
|
UTSW |
11 |
83,336,386 (GRCm38) |
missense |
probably benign |
0.14 |
|
R2086:Ap2b1
|
UTSW |
11 |
83,351,118 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2132:Ap2b1
|
UTSW |
11 |
83,324,761 (GRCm38) |
splice site |
probably benign |
|
|
R3615:Ap2b1
|
UTSW |
11 |
83,324,565 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R3616:Ap2b1
|
UTSW |
11 |
83,324,565 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R3983:Ap2b1
|
UTSW |
11 |
83,390,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4124:Ap2b1
|
UTSW |
11 |
83,365,645 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4125:Ap2b1
|
UTSW |
11 |
83,365,645 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4198:Ap2b1
|
UTSW |
11 |
83,342,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4202:Ap2b1
|
UTSW |
11 |
83,335,604 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4543:Ap2b1
|
UTSW |
11 |
83,324,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4583:Ap2b1
|
UTSW |
11 |
83,397,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4589:Ap2b1
|
UTSW |
11 |
83,333,011 (GRCm38) |
nonsense |
probably null |
|
|
R4916:Ap2b1
|
UTSW |
11 |
83,390,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5005:Ap2b1
|
UTSW |
11 |
83,339,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5385:Ap2b1
|
UTSW |
11 |
83,342,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5510:Ap2b1
|
UTSW |
11 |
83,336,737 (GRCm38) |
splice site |
probably null |
|
|
R5738:Ap2b1
|
UTSW |
11 |
83,336,430 (GRCm38) |
splice site |
probably null |
|
|
R6023:Ap2b1
|
UTSW |
11 |
83,335,398 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6269:Ap2b1
|
UTSW |
11 |
83,346,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6383:Ap2b1
|
UTSW |
11 |
83,346,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6502:Ap2b1
|
UTSW |
11 |
83,342,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6810:Ap2b1
|
UTSW |
11 |
83,335,491 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6969:Ap2b1
|
UTSW |
11 |
83,389,726 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7238:Ap2b1
|
UTSW |
11 |
83,333,122 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7241:Ap2b1
|
UTSW |
11 |
83,351,105 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7429:Ap2b1
|
UTSW |
11 |
83,367,998 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7588:Ap2b1
|
UTSW |
11 |
83,324,522 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7635:Ap2b1
|
UTSW |
11 |
83,389,728 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7651:Ap2b1
|
UTSW |
11 |
83,339,430 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7753:Ap2b1
|
UTSW |
11 |
83,367,907 (GRCm38) |
nonsense |
probably null |
|
|
R8468:Ap2b1
|
UTSW |
11 |
83,351,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8943:Ap2b1
|
UTSW |
11 |
83,346,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9093:Ap2b1
|
UTSW |
11 |
83,324,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9621:Ap2b1
|
UTSW |
11 |
83,402,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Ap2b1
|
UTSW |
11 |
83,324,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ap2b1
|
UTSW |
11 |
83,365,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGTTGCAGTTCTTATTTCCCG -3'
(R):5'- AGCATGTAAAGTCCCCTACACTTC -3'
Sequencing Primer
(F):5'- GTGCTGCTTGAACCACAAATG -3'
(R):5'- TAAAGTCCCCTACACTTCAATAAATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation