Incidental Mutation 'R4543:Ap2b1'
| ID |
333631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83215476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 140
(T140K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018875
AA Change: T140K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: T140K
| 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 damaging
Transcript: ENSMUST00000065692
AA Change: T140K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: T140K
| 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 damaging
Transcript: ENSMUST00000176430
AA Change: T140K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: T140K
| 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 damaging
Transcript: ENSMUST00000176523
AA Change: T102K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: T102K
| 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 damaging
Transcript: ENSMUST00000176944
AA Change: T140K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: T140K
| 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 |
0.7063 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
possibly 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 |
|
|
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'- GCTGGAATGTTGGCTTGTAATCAC -3'
(R):5'- CTCCAAGACAATGCTTGTGCC -3'
Sequencing Primer
(F):5'- GTTGGCTTGTAATCACCTTGTATTC -3'
(R):5'- CAAGCATGCCTTGGAACG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation