Incidental Mutation 'R2023:Acap2'
| ID |
220187 |
| 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 |
040032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R2023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30938233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 297
(V297A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
| AlphaFold |
Q6ZQK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058033
AA Change: V279A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: V279A
| 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 damaging
Transcript: ENSMUST00000229010
AA Change: V297A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230614
AA Change: V297A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231125
AA Change: V304A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3947 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,247 (GRCm39) |
S447P |
possibly damaging |
Het |
| 9930111J21Rik2 |
A |
G |
11: 48,911,144 (GRCm39) |
F430L |
probably benign |
Het |
| Adam3 |
G |
A |
8: 25,179,479 (GRCm39) |
R613C |
possibly damaging |
Het |
| Akt1 |
C |
T |
12: 112,626,071 (GRCm39) |
R67Q |
probably benign |
Het |
| Ambp |
T |
C |
4: 63,069,702 (GRCm39) |
Y108C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,090 (GRCm39) |
I3158V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 136,031,679 (GRCm39) |
T8A |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc88a |
G |
T |
11: 29,413,546 (GRCm39) |
E695* |
probably null |
Het |
| Cep68 |
A |
C |
11: 20,189,888 (GRCm39) |
S375A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,236,375 (GRCm39) |
I417V |
probably benign |
Het |
| Chrna2 |
T |
A |
14: 66,379,677 (GRCm39) |
H5Q |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,536,193 (GRCm39) |
I549K |
probably damaging |
Het |
| Col28a1 |
C |
A |
6: 8,083,783 (GRCm39) |
S558I |
possibly damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,505 (GRCm39) |
I385T |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,814,627 (GRCm39) |
V451E |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
A |
G |
9: 48,361,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5709 |
T |
C |
3: 59,543,142 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,321,785 (GRCm39) |
M1054K |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,728,484 (GRCm39) |
N200S |
probably benign |
Het |
| Kdm2a |
C |
A |
19: 4,372,492 (GRCm39) |
R951L |
probably damaging |
Het |
| Ldhd |
T |
A |
8: 112,356,578 (GRCm39) |
H61L |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,703,266 (GRCm39) |
V190A |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,883 (GRCm39) |
V627E |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,744,296 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,969,200 (GRCm39) |
C94* |
probably null |
Het |
| Or5p63 |
A |
G |
7: 107,811,049 (GRCm39) |
L229P |
probably damaging |
Het |
| Or6c1b |
T |
A |
10: 129,273,451 (GRCm39) |
Y257N |
probably damaging |
Het |
| Osbpl2 |
C |
A |
2: 179,791,969 (GRCm39) |
|
probably null |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,958,399 (GRCm39) |
V802D |
probably damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,228 (GRCm39) |
E55G |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,614,744 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprd |
C |
T |
4: 75,875,341 (GRCm39) |
E1240K |
probably damaging |
Het |
| Recql5 |
G |
A |
11: 115,784,466 (GRCm39) |
T878I |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,669,036 (GRCm39) |
D233G |
possibly damaging |
Het |
| Sectm1a |
A |
G |
11: 120,960,408 (GRCm39) |
|
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,416,872 (GRCm39) |
S931P |
probably benign |
Het |
| Tcof1 |
C |
T |
18: 60,966,605 (GRCm39) |
G329R |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,327,535 (GRCm39) |
H1446Y |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,026 (GRCm39) |
T671A |
probably damaging |
Het |
| Tmem171 |
C |
A |
13: 98,828,733 (GRCm39) |
W139L |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,810,368 (GRCm39) |
R385* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,843,567 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,230,959 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp287 |
A |
C |
11: 62,605,808 (GRCm39) |
Y366* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
| Zfp523 |
A |
G |
17: 28,419,978 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
C |
7: 6,308,416 (GRCm39) |
K361N |
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 |
|
|
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 |
|
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'- GCTTTGAAAGTCCAAGGGTCAC -3'
(R):5'- TCTGTCCCTAACCTGTGACTTTAAG -3'
Sequencing Primer
(F):5'- AGTCCAAGGGTCACCAGCTC -3'
(R):5'- CCCTAACCTGTGACTTTAAGATGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation