Incidental Mutation 'R9252:Acap2'
| ID |
701625 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R9252 (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 30920641 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 benign
Transcript: ENSMUST00000229010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231125
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,496 (GRCm39) |
N116D |
probably benign |
Het |
| Arfgef1 |
T |
A |
1: 10,243,122 (GRCm39) |
R1073* |
probably null |
Het |
| Atp6v1d |
T |
A |
12: 78,904,023 (GRCm39) |
Q46L |
probably benign |
Het |
| Brme1 |
A |
G |
8: 84,898,878 (GRCm39) |
S589G |
possibly damaging |
Het |
| Car15 |
A |
T |
16: 17,653,246 (GRCm39) |
L307* |
probably null |
Het |
| Catspere2 |
A |
T |
1: 177,938,996 (GRCm39) |
H623L |
possibly damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,502,023 (GRCm39) |
D797G |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,125,507 (GRCm39) |
D112E |
unknown |
Het |
| Ccp110 |
A |
G |
7: 118,321,673 (GRCm39) |
I443V |
probably benign |
Het |
| Cd74 |
T |
A |
18: 60,941,364 (GRCm39) |
M103K |
possibly damaging |
Het |
| Cdca2 |
T |
A |
14: 67,914,831 (GRCm39) |
R809S |
possibly damaging |
Het |
| Cfap46 |
A |
T |
7: 139,198,165 (GRCm39) |
V2061E |
unknown |
Het |
| Cimap1b |
T |
C |
15: 89,262,601 (GRCm39) |
S119G |
probably benign |
Het |
| Ddx11 |
G |
A |
17: 66,457,807 (GRCm39) |
E873K |
probably benign |
Het |
| Gucy2d |
G |
A |
7: 98,116,979 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,309,834 (GRCm39) |
S1061R |
probably damaging |
Het |
| Ildr1 |
G |
A |
16: 36,536,574 (GRCm39) |
R201H |
probably damaging |
Het |
| Jakmip2 |
T |
A |
18: 43,715,194 (GRCm39) |
I111F |
possibly damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,355 (GRCm39) |
D249G |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,002,776 (GRCm39) |
T208S |
probably damaging |
Het |
| Mgam |
T |
G |
6: 40,706,577 (GRCm39) |
M76R |
probably damaging |
Het |
| Mib1 |
T |
G |
18: 10,800,088 (GRCm39) |
I809S |
probably benign |
Het |
| Myh8 |
G |
T |
11: 67,177,302 (GRCm39) |
R456L |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,777,647 (GRCm39) |
T665A |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,699,943 (GRCm39) |
H27R |
|
Het |
| Nhsl3 |
A |
G |
4: 129,117,269 (GRCm39) |
V510A |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,579,415 (GRCm39) |
M1161T |
unknown |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Or13c7b |
C |
T |
4: 43,821,109 (GRCm39) |
G84D |
probably benign |
Het |
| Pde8b |
C |
T |
13: 95,169,424 (GRCm39) |
D567N |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,740,087 (GRCm39) |
I491T |
possibly damaging |
Het |
| Plcd3 |
G |
T |
11: 102,968,380 (GRCm39) |
Y392* |
probably null |
Het |
| Plcd4 |
A |
G |
1: 74,588,359 (GRCm39) |
I69M |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,356,443 (GRCm39) |
Y799C |
probably damaging |
Het |
| Pnlip |
T |
A |
19: 58,669,273 (GRCm39) |
I424N |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,326,550 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,247 (GRCm39) |
V568A |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,125,143 (GRCm39) |
E201G |
probably damaging |
Het |
| Scg2 |
C |
T |
1: 79,414,069 (GRCm39) |
R218H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,622,535 (GRCm39) |
H223R |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,913,842 (GRCm39) |
F312I |
probably damaging |
Het |
| Slc24a1 |
T |
A |
9: 64,835,394 (GRCm39) |
E911V |
probably damaging |
Het |
| St8sia4 |
CCTCT |
CCT |
1: 95,555,232 (GRCm39) |
|
probably null |
Het |
| Stat1 |
C |
A |
1: 52,174,831 (GRCm39) |
Q178K |
probably benign |
Het |
| Stat6 |
A |
C |
10: 127,483,661 (GRCm39) |
N75T |
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,538,915 (GRCm39) |
K251N |
|
Het |
| Sult1e1 |
G |
T |
5: 87,737,973 (GRCm39) |
A36E |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,899,477 (GRCm39) |
S466G |
probably benign |
Het |
| Thsd4 |
C |
A |
9: 59,964,230 (GRCm39) |
A421S |
probably benign |
Het |
| Tsga10 |
T |
A |
1: 37,873,364 (GRCm39) |
I172L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,600,856 (GRCm39) |
M18842K |
probably benign |
Het |
| Ttpal |
T |
G |
2: 163,449,105 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,088,999 (GRCm39) |
D62G |
probably benign |
Het |
| Ube3d |
C |
A |
9: 86,254,501 (GRCm39) |
V327F |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,706 (GRCm39) |
S40P |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,424,553 (GRCm39) |
I2021N |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,849 (GRCm39) |
Y701F |
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 |
|
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 |
|
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'- AGTTTGTGGAAAGGCCCAGG -3'
(R):5'- CACGTTTTACACTGACAGATGCC -3'
Sequencing Primer
(F):5'- TTAGCCACCTGGGAATTCAG -3'
(R):5'- TTTACACTGACAGATGCCGGTAAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation