Incidental Mutation 'R5578:Acap2'
ID |
437318 |
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 |
043133-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R5578 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30926932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 521
(S521P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
AlphaFold |
Q6ZQK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058033
AA Change: S503P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000061501 Gene: ENSMUSG00000049076 AA Change: S503P
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 benign
Transcript: ENSMUST00000229010
AA Change: S521P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230614
AA Change: S521P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231125
AA Change: S528P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp11 |
A |
G |
7: 97,386,665 (GRCm39) |
F177S |
probably damaging |
Het |
Arhgap40 |
G |
T |
2: 158,373,126 (GRCm39) |
G128V |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,398,455 (GRCm39) |
K1011I |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,722,203 (GRCm39) |
T89A |
probably benign |
Het |
Cep89 |
ACTCCTCCTCCTCCTCCTCCTCCTC |
ACTCCTCCTCCTCCTCCTCCTC |
7: 35,109,067 (GRCm39) |
|
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,758,806 (GRCm39) |
C81* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,847,149 (GRCm39) |
T1631A |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,638,196 (GRCm39) |
D22V |
probably benign |
Het |
Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp39a1 |
T |
A |
17: 43,991,031 (GRCm39) |
N113K |
possibly damaging |
Het |
Dnah11 |
A |
T |
12: 117,982,537 (GRCm39) |
V2544D |
probably damaging |
Het |
Dnai3 |
A |
T |
3: 145,802,983 (GRCm39) |
Y69* |
probably null |
Het |
Esr1 |
A |
C |
10: 4,919,164 (GRCm39) |
Q418P |
probably damaging |
Het |
Fam89a |
T |
A |
8: 125,467,968 (GRCm39) |
K115* |
probably null |
Het |
Fstl4 |
T |
A |
11: 53,056,608 (GRCm39) |
V455D |
probably damaging |
Het |
Gm20730 |
T |
A |
6: 43,058,474 (GRCm39) |
M113L |
probably benign |
Het |
H2ac21 |
T |
C |
3: 96,127,554 (GRCm39) |
V108A |
probably damaging |
Het |
Hk3 |
C |
T |
13: 55,159,994 (GRCm39) |
V327M |
probably damaging |
Het |
Itm2c |
T |
A |
1: 85,830,774 (GRCm39) |
V57E |
possibly damaging |
Het |
Lrba |
T |
C |
3: 86,664,814 (GRCm39) |
Y565H |
probably benign |
Het |
Mab21l1 |
C |
T |
3: 55,691,435 (GRCm39) |
Q341* |
probably null |
Het |
Mdm2 |
C |
T |
10: 117,538,192 (GRCm39) |
E69K |
possibly damaging |
Het |
Mdn1 |
A |
T |
4: 32,728,167 (GRCm39) |
I2709F |
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,355,101 (GRCm39) |
N442D |
probably benign |
Het |
Ncoa3 |
A |
G |
2: 165,896,248 (GRCm39) |
I384V |
probably benign |
Het |
Pm20d1 |
A |
G |
1: 131,743,760 (GRCm39) |
N475S |
probably benign |
Het |
Rhpn2 |
A |
G |
7: 35,070,135 (GRCm39) |
D131G |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,155,847 (GRCm39) |
Y193F |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 141,598,880 (GRCm39) |
K182* |
probably null |
Het |
Slx4 |
T |
A |
16: 3,804,726 (GRCm39) |
E696V |
probably damaging |
Het |
Smyd4 |
C |
T |
11: 75,295,602 (GRCm39) |
P753S |
probably benign |
Het |
Stambp |
T |
G |
6: 83,538,782 (GRCm39) |
D206A |
probably benign |
Het |
Sult5a1 |
G |
T |
8: 123,869,860 (GRCm39) |
Y262* |
probably null |
Het |
Taar1 |
A |
T |
10: 23,796,718 (GRCm39) |
I139F |
possibly damaging |
Het |
Tchh |
A |
T |
3: 93,351,618 (GRCm39) |
R353* |
probably null |
Het |
Thnsl2 |
C |
T |
6: 71,115,749 (GRCm39) |
V153I |
probably benign |
Het |
Trmt5 |
C |
T |
12: 73,331,837 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
A |
1: 14,957,232 (GRCm39) |
Y728F |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,370,639 (GRCm39) |
V126A |
probably benign |
Het |
Vcan |
A |
G |
13: 89,839,622 (GRCm39) |
V1974A |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,829,514 (GRCm39) |
H461L |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,682,402 (GRCm39) |
Y513C |
probably benign |
Het |
Zfp84 |
A |
C |
7: 29,474,856 (GRCm39) |
M43L |
possibly damaging |
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 |
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 |
R7262:Acap2
|
UTSW |
16 |
30,946,137 (GRCm39) |
critical splice donor site |
probably null |
|
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'- TGCACAGAAGGAAATAGGCTTC -3'
(R):5'- CAGGTCTTCTGGTAACTGCTG -3'
Sequencing Primer
(F):5'- AGGCTTCTAGTATTTACAAAACCAC -3'
(R):5'- CTGGTAACTGCTGGGCCATTC -3'
|
Posted On |
2016-10-26 |