Incidental Mutation 'R2913:Acap2'
ID |
254773 |
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 |
040500-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R2913 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30934887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 357
(Q357R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
AlphaFold |
Q6ZQK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058033
AA Change: Q332R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061501 Gene: ENSMUSG00000049076 AA Change: Q332R
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: Q350R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230614
AA Change: Q350R
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: Q357R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.2334 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
T |
5: 139,260,576 (GRCm39) |
|
probably null |
Het |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Aldh3b1 |
T |
C |
19: 3,971,275 (GRCm39) |
|
probably benign |
Het |
Arih2 |
A |
G |
9: 108,521,275 (GRCm39) |
S68P |
probably damaging |
Het |
Cdcp3 |
T |
C |
7: 130,783,753 (GRCm39) |
S49P |
possibly damaging |
Het |
Col1a2 |
C |
T |
6: 4,519,923 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,300,169 (GRCm39) |
S3159P |
unknown |
Het |
Crocc |
C |
T |
4: 140,747,661 (GRCm39) |
R1496H |
probably damaging |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Cyp11b1 |
T |
C |
15: 74,708,270 (GRCm39) |
T402A |
probably damaging |
Het |
Etfa |
C |
A |
9: 55,389,613 (GRCm39) |
A254S |
probably damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,863,732 (GRCm39) |
L2501F |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
Hbb-bh1 |
C |
T |
7: 103,492,254 (GRCm39) |
E22K |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,350,222 (GRCm39) |
T5040A |
possibly damaging |
Het |
Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,239,157 (GRCm39) |
L341F |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,743,668 (GRCm39) |
S1592P |
possibly damaging |
Het |
Itgam |
T |
C |
7: 127,711,578 (GRCm39) |
I641T |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mapk3 |
T |
A |
7: 126,359,978 (GRCm39) |
C19* |
probably null |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Med26 |
T |
G |
8: 73,249,956 (GRCm39) |
K381T |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,302,415 (GRCm39) |
E873G |
possibly damaging |
Het |
Mrgpra9 |
T |
C |
7: 46,884,828 (GRCm39) |
I280V |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
Pam |
A |
C |
1: 97,850,854 (GRCm39) |
L168R |
probably damaging |
Het |
Pikfyve |
G |
A |
1: 65,292,676 (GRCm39) |
V1376M |
probably damaging |
Het |
Pomt2 |
A |
T |
12: 87,175,743 (GRCm39) |
N400K |
probably damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,268,971 (GRCm39) |
S832P |
possibly damaging |
Het |
Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
Rrh |
G |
T |
3: 129,609,258 (GRCm39) |
A83E |
probably damaging |
Het |
Rspo2 |
T |
A |
15: 42,941,510 (GRCm39) |
T138S |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,381,289 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,874,769 (GRCm39) |
E922G |
possibly damaging |
Het |
Spc25 |
T |
C |
2: 69,030,331 (GRCm39) |
H104R |
probably benign |
Het |
Sptssa |
A |
T |
12: 54,703,267 (GRCm39) |
M1K |
probably null |
Het |
Srrm2 |
G |
T |
17: 24,034,658 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmem181c-ps |
A |
G |
17: 6,888,608 (GRCm39) |
|
noncoding transcript |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Trio |
T |
A |
15: 27,854,998 (GRCm39) |
Q728L |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,662,809 (GRCm39) |
V2731E |
probably benign |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,392,356 (GRCm39) |
V1292A |
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 |
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'- CATCTCAATTTATAAAACATGTGCCA -3'
(R):5'- AACAATGAAACCCTTCTTCGAACT -3'
Sequencing Primer
(F):5'- CATGTGCCATAAAAAGGATGCC -3'
(R):5'- AGTGGTGCTCAGACCTACATTCAG -3'
|
Posted On |
2014-12-29 |