Incidental Mutation 'R7429:Ap2b1'
| ID |
576333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| MMRRC Submission |
045507-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83258824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 765
(T765I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018875
AA Change: T765I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: T765I
| 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: T751I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: T751I
| 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 |
probably benign
Transcript: ENSMUST00000176430
AA Change: T765I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: T765I
| 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: T727I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: T727I
| 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 |
0.1124 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,028 (GRCm39) |
C60R |
unknown |
Het |
| A430033K04Rik |
A |
G |
5: 138,634,445 (GRCm39) |
D20G |
possibly damaging |
Het |
| Aadacl4fm2 |
T |
A |
4: 144,291,626 (GRCm39) |
I27F |
probably benign |
Het |
| Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
C |
T |
5: 110,382,384 (GRCm39) |
T120I |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,245,291 (GRCm39) |
V286E |
possibly damaging |
Het |
| Brms1l |
T |
C |
12: 55,892,084 (GRCm39) |
L126P |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,804,039 (GRCm39) |
T334A |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,366,942 (GRCm39) |
V216A |
possibly damaging |
Het |
| Chka |
A |
G |
19: 3,942,787 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cnih1 |
C |
T |
14: 47,017,679 (GRCm39) |
V52I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,770 (GRCm39) |
M145K |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,550,341 (GRCm39) |
E692G |
probably damaging |
Het |
| Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,618,216 (GRCm39) |
S1245P |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,587,848 (GRCm39) |
H14Q |
probably benign |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Fam181b |
G |
A |
7: 92,729,403 (GRCm39) |
V59M |
probably benign |
Het |
| Fam184b |
G |
A |
5: 45,698,230 (GRCm39) |
T655I |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,442 (GRCm39) |
M61T |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,063,342 (GRCm39) |
D223G |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,610 (GRCm39) |
H445R |
probably damaging |
Het |
| Gm44501 |
A |
G |
17: 40,887,517 (GRCm39) |
T12A |
probably null |
Het |
| Hnrnpll |
T |
A |
17: 80,357,276 (GRCm39) |
I247F |
probably damaging |
Het |
| Hs3st4 |
T |
C |
7: 123,996,605 (GRCm39) |
F424L |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,157 (GRCm39) |
V613E |
|
Het |
| Insig1 |
T |
C |
5: 28,280,077 (GRCm39) |
F223S |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,401,188 (GRCm39) |
E500K |
probably benign |
Het |
| Itgav |
G |
A |
2: 83,624,602 (GRCm39) |
V731M |
probably damaging |
Het |
| Lrrfip2 |
T |
G |
9: 111,014,194 (GRCm39) |
|
probably null |
Het |
| Mark4 |
C |
A |
7: 19,160,092 (GRCm39) |
G723C |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 110,675,100 (GRCm39) |
S239P |
possibly damaging |
Het |
| Mast3 |
A |
C |
8: 71,232,947 (GRCm39) |
C1122G |
probably damaging |
Het |
| Ms4a4d |
A |
G |
19: 11,535,297 (GRCm39) |
I198M |
probably benign |
Het |
| Mup14 |
C |
T |
4: 61,259,447 (GRCm39) |
G35E |
probably damaging |
Het |
| Myo1a |
T |
A |
10: 127,542,716 (GRCm39) |
V118E |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,835,035 (GRCm39) |
T794A |
probably benign |
Het |
| Or1p1c |
T |
A |
11: 74,160,579 (GRCm39) |
D121E |
probably damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,969 (GRCm39) |
S77T |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,726,650 (GRCm39) |
*313W |
probably null |
Het |
| Pde6c |
T |
A |
19: 38,129,887 (GRCm39) |
Y266N |
probably damaging |
Het |
| Pde9a |
T |
C |
17: 31,689,680 (GRCm39) |
L435P |
probably damaging |
Het |
| Pgm1 |
T |
A |
4: 99,813,192 (GRCm39) |
M1K |
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,810,242 (GRCm39) |
Y626H |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,386,739 (GRCm39) |
N517D |
probably damaging |
Het |
| Rpap3 |
A |
T |
15: 97,586,031 (GRCm39) |
L320Q |
possibly damaging |
Het |
| Rptor |
T |
C |
11: 119,737,654 (GRCm39) |
W576R |
probably damaging |
Het |
| Scarb2 |
T |
C |
5: 92,633,093 (GRCm39) |
I80V |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,823,011 (GRCm39) |
T251A |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,942,483 (GRCm39) |
D85G |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,086,631 (GRCm39) |
D653G |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,510 (GRCm39) |
Y449C |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,183,357 (GRCm39) |
V760A |
possibly damaging |
Het |
| Snx7 |
T |
C |
3: 117,630,861 (GRCm39) |
N249S |
probably benign |
Het |
| Soat2 |
C |
A |
15: 102,062,735 (GRCm39) |
H124Q |
probably damaging |
Het |
| Sugt1 |
T |
A |
14: 79,857,241 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 75,980,770 (GRCm39) |
T1509M |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,087,184 (GRCm39) |
L214* |
probably null |
Het |
| Taok2 |
T |
C |
7: 126,469,849 (GRCm39) |
Q993R |
possibly damaging |
Het |
| Tmem161b |
A |
G |
13: 84,430,866 (GRCm39) |
|
probably null |
Het |
| Tspan17 |
G |
A |
13: 54,943,785 (GRCm39) |
E213K |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,704,888 (GRCm39) |
I631N |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,641,283 (GRCm39) |
L13574F |
probably damaging |
Het |
| U2af1l4 |
A |
G |
7: 30,262,815 (GRCm39) |
E12G |
probably benign |
Het |
| Usp39 |
T |
C |
6: 72,319,900 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn1r185 |
A |
C |
7: 26,310,603 (GRCm39) |
F301V |
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,055,611 (GRCm39) |
K184N |
unknown |
Het |
| Zfp438 |
A |
G |
18: 5,214,139 (GRCm39) |
V273A |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,833,054 (GRCm39) |
T596A |
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 |
|
|
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 |
|
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'- TCTGAACAGATGTGCCTTCCTC -3'
(R):5'- GTCCTGTTCTCCAGAGTCAAGG -3'
Sequencing Primer
(F):5'- CCTCTTTGCATGCTGGGAAAG -3'
(R):5'- TGTTCTCCAGAGTCAAGGCAGAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation