Incidental Mutation 'R1546:Acap2'
ID |
172216 |
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 |
039585-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R1546 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 30923754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 657
(E657*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
AlphaFold |
Q6ZQK5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058033
AA Change: E632*
|
SMART Domains |
Protein: ENSMUSP00000061501 Gene: ENSMUSG00000049076 AA Change: E632*
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
AA Change: E685*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230614
AA Change: E650*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231125
AA Change: E657*
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,026,232 (GRCm39) |
S251P |
probably damaging |
Het |
Aaas |
C |
A |
15: 102,255,153 (GRCm39) |
R79L |
probably benign |
Het |
Adgrg5 |
A |
T |
8: 95,668,258 (GRCm39) |
E441V |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
AY358078 |
C |
T |
14: 52,057,876 (GRCm39) |
|
probably null |
Het |
Bco2 |
A |
G |
9: 50,461,929 (GRCm39) |
V25A |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 36,924,205 (GRCm39) |
V10A |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,165,195 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
T |
10: 93,401,741 (GRCm39) |
I134L |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,633,097 (GRCm39) |
S85P |
probably benign |
Het |
Ctsl |
A |
G |
13: 64,515,693 (GRCm39) |
V126A |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,938,693 (GRCm39) |
S206A |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,167,590 (GRCm39) |
I1004T |
probably damaging |
Het |
Dgki |
A |
G |
6: 37,027,138 (GRCm39) |
V401A |
probably damaging |
Het |
Dpp8 |
C |
T |
9: 64,970,775 (GRCm39) |
H545Y |
possibly damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,386,680 (GRCm39) |
C205S |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,709,225 (GRCm39) |
E797K |
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,498,320 (GRCm39) |
R253H |
probably damaging |
Het |
Esrra |
T |
C |
19: 6,897,665 (GRCm39) |
T31A |
probably benign |
Het |
Ewsr1 |
C |
A |
11: 5,028,574 (GRCm39) |
|
probably benign |
Het |
Flt4 |
G |
T |
11: 49,522,808 (GRCm39) |
R475L |
probably benign |
Het |
Gm13547 |
A |
G |
2: 29,653,921 (GRCm39) |
E138G |
possibly damaging |
Het |
Gm572 |
A |
T |
4: 148,751,276 (GRCm39) |
R216S |
possibly damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
Hapln2 |
T |
A |
3: 87,931,404 (GRCm39) |
Y37F |
probably benign |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,302 (GRCm39) |
|
probably benign |
Het |
Hhla1 |
C |
T |
15: 65,805,176 (GRCm39) |
A369T |
probably benign |
Het |
Hmg20a |
T |
A |
9: 56,374,685 (GRCm39) |
F14I |
possibly damaging |
Het |
Iqca1l |
A |
T |
5: 24,760,426 (GRCm39) |
|
probably null |
Het |
Itga2 |
A |
T |
13: 114,985,956 (GRCm39) |
S940T |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,359,116 (GRCm39) |
N377S |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,981,049 (GRCm39) |
S298P |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,332,954 (GRCm39) |
G1521D |
probably damaging |
Het |
Mogat2 |
A |
G |
7: 98,881,766 (GRCm39) |
W57R |
probably damaging |
Het |
Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,548,493 (GRCm39) |
D380G |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,582,432 (GRCm39) |
D115E |
probably damaging |
Het |
Ogn |
A |
T |
13: 49,762,809 (GRCm39) |
K50N |
probably benign |
Het |
Or5ac20 |
T |
C |
16: 59,104,366 (GRCm39) |
R165G |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,844 (GRCm39) |
M1L |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,182,951 (GRCm39) |
T269I |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,677 (GRCm39) |
D495E |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,117 (GRCm39) |
K103N |
possibly damaging |
Het |
Proc |
C |
T |
18: 32,260,463 (GRCm39) |
G221S |
probably damaging |
Het |
Pxk |
A |
G |
14: 8,164,091 (GRCm38) |
N561S |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,610,721 (GRCm39) |
N323S |
probably benign |
Het |
Slc6a13 |
T |
G |
6: 121,309,333 (GRCm39) |
D281E |
possibly damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,676 (GRCm39) |
Y454C |
probably damaging |
Het |
Sntg2 |
C |
A |
12: 30,338,295 (GRCm39) |
L115F |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,993,857 (GRCm39) |
D1103G |
probably damaging |
Het |
Supv3l1 |
G |
A |
10: 62,268,225 (GRCm39) |
A540V |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,648,689 (GRCm39) |
D1914E |
probably damaging |
Het |
Tmem30a |
A |
G |
9: 79,678,570 (GRCm39) |
*329Q |
probably null |
Het |
Tspan5 |
A |
T |
3: 138,604,102 (GRCm39) |
L162F |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,549,396 (GRCm39) |
K31760N |
probably damaging |
Het |
Tyr |
A |
T |
7: 87,087,200 (GRCm39) |
D437E |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,144,238 (GRCm39) |
L1427* |
probably null |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,841,075 (GRCm39) |
S1490P |
probably damaging |
Het |
Vcl |
T |
A |
14: 21,059,018 (GRCm39) |
C545S |
probably damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,314,309 (GRCm39) |
G224D |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,168,110 (GRCm39) |
V788E |
probably damaging |
Het |
Vrtn |
G |
A |
12: 84,695,282 (GRCm39) |
V11M |
probably damaging |
Het |
Zbtb21 |
A |
T |
16: 97,753,227 (GRCm39) |
V380D |
probably damaging |
Het |
Zcchc14 |
G |
A |
8: 122,331,002 (GRCm39) |
|
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 |
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 |
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'- GATTCCACCATGACAGAAGAATGCACT -3'
(R):5'- GCATTAAGGCTGTATTAGGGCGTGA -3'
Sequencing Primer
(F):5'- GACAGAAGAATGCACTCTTTACAG -3'
(R):5'- GAATTCTCTCACAGTGAGTTCTG -3'
|
Posted On |
2014-04-13 |