Incidental Mutation 'R2177:Acap2'
ID |
236963 |
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 |
040179-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R2177 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
30911230-31020063 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 30952346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000058033]
[ENSMUST00000058033]
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000229010]
[ENSMUST00000229010]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230614]
[ENSMUST00000230614]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
[ENSMUST00000231125]
[ENSMUST00000231125]
[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 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 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 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 null
Transcript: ENSMUST00000229010
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229010
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229010
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229010
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230614
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230614
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230614
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231125
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231125
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231125
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231125
|
Meta Mutation Damage Score |
0.9594 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,087,626 (GRCm39) |
L552P |
possibly damaging |
Het |
Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,099,057 (GRCm39) |
I429F |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
Csf1r |
T |
A |
18: 61,248,015 (GRCm39) |
|
probably benign |
Het |
Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
Fcho1 |
A |
G |
8: 72,164,905 (GRCm39) |
S459P |
probably damaging |
Het |
Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
Me3 |
A |
C |
7: 89,282,278 (GRCm39) |
T54P |
probably benign |
Het |
Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
Ulk2 |
T |
A |
11: 61,682,335 (GRCm39) |
T727S |
probably benign |
Het |
Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
probably 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 |
|
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'- AGGTACTTAAGCCTCTTTTCAGTACC -3'
(R):5'- ACGTGCTTTCATACGACGTG -3'
Sequencing Primer
(F):5'- CTCTGATCACTACTTAAGACACGTG -3'
(R):5'- TTCATACGACGTGGACTCAG -3'
|
Posted On |
2014-10-02 |