Incidental Mutation 'R7262:Acap2'
| ID |
564710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap2
|
| Ensembl Gene |
ENSMUSG00000049076 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 |
| Synonyms |
Centb2, 9530039J15Rik |
| MMRRC Submission |
045353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R7262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 30946137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
| AlphaFold |
Q6ZQK5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058033
|
| SMART Domains |
Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
5 |
238 |
9.1e-96 |
PFAM |
|
PH
|
267 |
363 |
1.73e-17 |
SMART |
|
ArfGap
|
399 |
520 |
2.23e-63 |
SMART |
|
ANK
|
632 |
661 |
6.71e-2 |
SMART |
|
ANK
|
665 |
694 |
3.04e0 |
SMART |
|
ANK
|
698 |
727 |
6.64e2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229010
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231125
|
| Meta Mutation Damage Score |
0.9503 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
C |
A |
3: 138,151,133 (GRCm39) |
A32D |
possibly damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,213,762 (GRCm39) |
I295T |
possibly damaging |
Het |
| B230104I21Rik |
T |
C |
4: 154,434,091 (GRCm39) |
S92P |
unknown |
Het |
| Carnmt1 |
A |
T |
19: 18,655,228 (GRCm39) |
N127I |
probably benign |
Het |
| Ccdc42 |
A |
G |
11: 68,485,399 (GRCm39) |
T106A |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,680 (GRCm39) |
E797G |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,555,467 (GRCm39) |
V821D |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,909,500 (GRCm39) |
V212D |
probably damaging |
Het |
| Cttnbp2nl |
A |
T |
3: 104,940,062 (GRCm39) |
N2K |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,176 (GRCm39) |
|
probably benign |
Het |
| Cyp2u1 |
T |
C |
3: 131,091,605 (GRCm39) |
D305G |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,512,298 (GRCm39) |
|
probably null |
Het |
| Ddx55 |
T |
C |
5: 124,704,919 (GRCm39) |
L396P |
probably benign |
Het |
| Dhx34 |
G |
A |
7: 15,937,623 (GRCm39) |
A786V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,745,432 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,474 (GRCm39) |
L943* |
probably null |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,728 (GRCm39) |
T234A |
probably benign |
Het |
| Flot2 |
T |
C |
11: 77,948,175 (GRCm39) |
M145T |
probably damaging |
Het |
| Fn3k |
T |
C |
11: 121,339,741 (GRCm39) |
F168L |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,052,386 (GRCm39) |
C87S |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,582,084 (GRCm39) |
F180S |
probably damaging |
Het |
| Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,078,616 (GRCm39) |
C123Y |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,641,712 (GRCm39) |
E37G |
possibly damaging |
Het |
| Jmjd7 |
A |
G |
2: 119,862,467 (GRCm39) |
H283R |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,219 (GRCm39) |
S1772P |
possibly damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,546 (GRCm39) |
T70A |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,925,036 (GRCm39) |
D1116E |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,970,930 (GRCm39) |
H1498Q |
probably damaging |
Het |
| Lamp1 |
A |
T |
8: 13,217,296 (GRCm39) |
T102S |
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,671,363 (GRCm39) |
D1515Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,006,715 (GRCm39) |
V1149A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,535 (GRCm39) |
T22S |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,902 (GRCm39) |
S210P |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,764 (GRCm39) |
R124G |
probably damaging |
Het |
| Pak4 |
C |
A |
7: 28,264,625 (GRCm39) |
M92I |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,448 (GRCm39) |
K157R |
|
Het |
| Pcdh9 |
A |
T |
14: 93,253,141 (GRCm39) |
V1174E |
probably benign |
Het |
| Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,069 (GRCm39) |
D615G |
probably benign |
Het |
| Senp1 |
A |
T |
15: 97,964,379 (GRCm39) |
D278E |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,229 (GRCm39) |
N108D |
probably damaging |
Het |
| Srl |
C |
A |
16: 4,315,415 (GRCm39) |
A76S |
probably damaging |
Het |
| Tbc1d16 |
C |
A |
11: 119,045,921 (GRCm39) |
V509L |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,426,820 (GRCm39) |
F357S |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,570,735 (GRCm39) |
L339P |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,807,112 (GRCm39) |
I27N |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,311,665 (GRCm39) |
D62G |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,853,280 (GRCm39) |
D560A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,579 (GRCm39) |
N405K |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,489,430 (GRCm39) |
I701K |
probably benign |
Het |
|
| Other mutations in Acap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Acap2
|
APN |
16 |
30,958,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Acap2
|
APN |
16 |
30,973,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01420:Acap2
|
APN |
16 |
30,920,637 (GRCm39) |
splice site |
probably benign |
|
|
IGL02064:Acap2
|
APN |
16 |
30,946,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02173:Acap2
|
APN |
16 |
30,926,965 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02453:Acap2
|
APN |
16 |
30,950,075 (GRCm39) |
splice site |
probably null |
|
|
IGL02883:Acap2
|
APN |
16 |
30,915,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03203:Acap2
|
APN |
16 |
30,915,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03342:Acap2
|
APN |
16 |
30,924,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Acap2
|
UTSW |
16 |
30,926,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1377:Acap2
|
UTSW |
16 |
30,934,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Acap2
|
UTSW |
16 |
30,929,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Acap2
|
UTSW |
16 |
30,923,754 (GRCm39) |
nonsense |
probably null |
|
|
R1594:Acap2
|
UTSW |
16 |
30,946,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1829:Acap2
|
UTSW |
16 |
30,929,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Acap2
|
UTSW |
16 |
30,936,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Acap2
|
UTSW |
16 |
30,952,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2023:Acap2
|
UTSW |
16 |
30,938,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2086:Acap2
|
UTSW |
16 |
30,929,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Acap2
|
UTSW |
16 |
30,924,342 (GRCm39) |
missense |
probably benign |
|
|
R2177:Acap2
|
UTSW |
16 |
30,952,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2214:Acap2
|
UTSW |
16 |
30,926,946 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2392:Acap2
|
UTSW |
16 |
30,958,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2438:Acap2
|
UTSW |
16 |
30,936,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Acap2
|
UTSW |
16 |
30,934,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4207:Acap2
|
UTSW |
16 |
30,938,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4274:Acap2
|
UTSW |
16 |
30,926,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4814:Acap2
|
UTSW |
16 |
30,926,944 (GRCm39) |
missense |
probably benign |
|
|
R4860:Acap2
|
UTSW |
16 |
30,922,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4860:Acap2
|
UTSW |
16 |
30,922,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5310:Acap2
|
UTSW |
16 |
30,952,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5345:Acap2
|
UTSW |
16 |
30,926,944 (GRCm39) |
missense |
probably benign |
|
|
R5388:Acap2
|
UTSW |
16 |
30,928,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Acap2
|
UTSW |
16 |
30,923,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Acap2
|
UTSW |
16 |
30,926,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Acap2
|
UTSW |
16 |
30,924,364 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6659:Acap2
|
UTSW |
16 |
30,950,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6977:Acap2
|
UTSW |
16 |
30,936,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Acap2
|
UTSW |
16 |
30,926,934 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7310:Acap2
|
UTSW |
16 |
30,926,972 (GRCm39) |
nonsense |
probably null |
|
|
R7318:Acap2
|
UTSW |
16 |
30,946,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Acap2
|
UTSW |
16 |
30,973,385 (GRCm39) |
splice site |
probably null |
|
|
R7875:Acap2
|
UTSW |
16 |
30,958,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8256:Acap2
|
UTSW |
16 |
30,958,287 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9026:Acap2
|
UTSW |
16 |
30,925,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9177:Acap2
|
UTSW |
16 |
30,955,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9252:Acap2
|
UTSW |
16 |
30,920,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9268:Acap2
|
UTSW |
16 |
30,955,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Acap2
|
UTSW |
16 |
30,946,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Acap2
|
UTSW |
16 |
30,929,901 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9528:Acap2
|
UTSW |
16 |
30,929,908 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9762:Acap2
|
UTSW |
16 |
30,929,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCAGTCATTACAGCCC -3'
(R):5'- GACTCCAAACTTTTCTCTAAAGCCC -3'
Sequencing Primer
(F):5'- AGCATTCTAAGAACTAGCTCTCTC -3'
(R):5'- AAAGCCCTTTTCCCTGGATAAATTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation