Incidental Mutation 'IGL03342:Acap2'
| ID |
417253 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acap2
|
| Ensembl Gene |
ENSMUSG00000049076 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 |
| Synonyms |
Centb2, 9530039J15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL03342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
31092412-31201245 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31105492 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 641
(V641A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058033]
[ENSMUST00000229010]
[ENSMUST00000230614]
[ENSMUST00000230698]
[ENSMUST00000231125]
|
| AlphaFold |
Q6ZQK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058033
AA Change: V623A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: V623A
| 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: V676A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230614
AA Change: V641A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230698
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231125
AA Change: V648A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,287,691 |
T1152M |
possibly damaging |
Het |
| Abcg2 |
G |
T |
6: 58,665,135 |
R136I |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,407,320 |
D706E |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,897,593 |
L311Q |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,466,944 |
|
probably null |
Het |
| Car2 |
A |
T |
3: 14,895,569 |
D129V |
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,406,736 |
I228V |
probably damaging |
Het |
| Cdhr3 |
C |
A |
12: 33,051,055 |
R452M |
probably benign |
Het |
| Chrm1 |
A |
T |
19: 8,679,308 |
Q459L |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 19,098,264 |
|
probably benign |
Het |
| Coa7 |
A |
G |
4: 108,332,229 |
D42G |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,429,140 |
Y187C |
possibly damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,810,407 |
Q165* |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,855,117 |
P489S |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,697,936 |
I276F |
probably damaging |
Het |
| Dsg1b |
T |
A |
18: 20,409,460 |
M1008K |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,451,823 |
I198N |
probably damaging |
Het |
| Dtymk |
C |
A |
1: 93,794,819 |
E87D |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,190,872 |
D1749E |
probably benign |
Het |
| Dzip3 |
G |
T |
16: 48,929,623 |
Q1050K |
probably damaging |
Het |
| Echs1 |
C |
T |
7: 140,110,113 |
|
probably benign |
Het |
| Enc1 |
T |
A |
13: 97,246,470 |
I496N |
possibly damaging |
Het |
| Epc2 |
A |
T |
2: 49,536,646 |
Y139F |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,892,127 |
N246I |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,201,235 |
K190R |
probably damaging |
Het |
| Gm5424 |
A |
T |
10: 62,072,192 |
|
noncoding transcript |
Het |
| Gpbp1l1 |
A |
C |
4: 116,574,543 |
T133P |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,349,678 |
F146S |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 11,079,971 |
I190L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 17,041,122 |
R515H |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,602,576 |
D442N |
probably benign |
Het |
| Manba |
A |
T |
3: 135,517,987 |
I212F |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,892,231 |
E88G |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,491,390 |
L163P |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,189,180 |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,415,980 |
D365G |
possibly damaging |
Het |
| Mtrf1 |
C |
T |
14: 79,415,871 |
|
probably benign |
Het |
| Mtrf1 |
T |
A |
14: 79,415,872 |
|
probably null |
Het |
| Myadm |
C |
T |
7: 3,296,887 |
T55I |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,133,262 |
I158N |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,445,318 |
L690P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,122,791 |
D544E |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,317,483 |
L20Q |
probably damaging |
Het |
| Olfr1053 |
A |
T |
2: 86,315,235 |
I17N |
possibly damaging |
Het |
| Olfr1504 |
A |
G |
19: 13,887,437 |
Y258H |
probably damaging |
Het |
| Olfr390 |
T |
A |
11: 73,787,483 |
S182T |
probably benign |
Het |
| Padi3 |
G |
A |
4: 140,810,598 |
Q4* |
probably null |
Het |
| Pfkl |
A |
T |
10: 78,005,475 |
I13K |
possibly damaging |
Het |
| Pinx1 |
A |
G |
14: 63,919,569 |
D315G |
probably benign |
Het |
| Prickle3 |
A |
G |
X: 7,663,496 |
D47G |
probably benign |
Het |
| Psmd10 |
A |
T |
X: 140,956,654 |
V5E |
probably damaging |
Het |
| Rasgrf2 |
C |
A |
13: 91,987,979 |
V605F |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 47,892,269 |
A84D |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,961,762 |
V112A |
probably damaging |
Het |
| Srgap3 |
G |
A |
6: 112,775,687 |
R279C |
probably damaging |
Het |
| Ssfa2 |
G |
A |
2: 79,660,452 |
M971I |
probably damaging |
Het |
| Trav21-dv12 |
T |
C |
14: 53,876,044 |
L10P |
unknown |
Het |
| Vmn1r236 |
A |
T |
17: 21,286,974 |
H118L |
probably benign |
Het |
| Vmn2r120 |
A |
G |
17: 57,509,372 |
M661T |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,427,916 |
I218F |
probably damaging |
Het |
| Vmn2r41 |
G |
T |
7: 8,138,683 |
A594D |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,524,223 |
E103G |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,215,471 |
G130* |
probably null |
Het |
|
| Other mutations in Acap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Acap2
|
APN |
16 |
31,139,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01330:Acap2
|
APN |
16 |
31,154,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01420:Acap2
|
APN |
16 |
31,101,819 (GRCm38) |
splice site |
probably benign |
|
|
IGL02064:Acap2
|
APN |
16 |
31,127,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02173:Acap2
|
APN |
16 |
31,108,147 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02453:Acap2
|
APN |
16 |
31,131,257 (GRCm38) |
splice site |
probably null |
|
|
IGL02883:Acap2
|
APN |
16 |
31,096,345 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03203:Acap2
|
APN |
16 |
31,096,345 (GRCm38) |
unclassified |
probably benign |
|
|
R1251:Acap2
|
UTSW |
16 |
31,108,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1377:Acap2
|
UTSW |
16 |
31,116,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Acap2
|
UTSW |
16 |
31,111,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1546:Acap2
|
UTSW |
16 |
31,104,936 (GRCm38) |
nonsense |
probably null |
|
|
R1594:Acap2
|
UTSW |
16 |
31,127,387 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1829:Acap2
|
UTSW |
16 |
31,110,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1853:Acap2
|
UTSW |
16 |
31,117,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1970:Acap2
|
UTSW |
16 |
31,133,527 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2023:Acap2
|
UTSW |
16 |
31,119,415 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2086:Acap2
|
UTSW |
16 |
31,110,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2145:Acap2
|
UTSW |
16 |
31,105,524 (GRCm38) |
missense |
probably benign |
|
|
R2177:Acap2
|
UTSW |
16 |
31,133,528 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2214:Acap2
|
UTSW |
16 |
31,108,128 (GRCm38) |
missense |
probably benign |
0.19 |
|
R2392:Acap2
|
UTSW |
16 |
31,139,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2438:Acap2
|
UTSW |
16 |
31,117,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2913:Acap2
|
UTSW |
16 |
31,116,069 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4207:Acap2
|
UTSW |
16 |
31,119,427 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4274:Acap2
|
UTSW |
16 |
31,108,114 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4814:Acap2
|
UTSW |
16 |
31,108,126 (GRCm38) |
missense |
probably benign |
|
|
R4860:Acap2
|
UTSW |
16 |
31,103,499 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4860:Acap2
|
UTSW |
16 |
31,103,499 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5310:Acap2
|
UTSW |
16 |
31,133,609 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5345:Acap2
|
UTSW |
16 |
31,108,126 (GRCm38) |
missense |
probably benign |
|
|
R5388:Acap2
|
UTSW |
16 |
31,109,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5551:Acap2
|
UTSW |
16 |
31,104,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5578:Acap2
|
UTSW |
16 |
31,108,114 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6341:Acap2
|
UTSW |
16 |
31,105,546 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6659:Acap2
|
UTSW |
16 |
31,131,315 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6977:Acap2
|
UTSW |
16 |
31,117,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7262:Acap2
|
UTSW |
16 |
31,127,319 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7304:Acap2
|
UTSW |
16 |
31,108,116 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7310:Acap2
|
UTSW |
16 |
31,108,154 (GRCm38) |
nonsense |
probably null |
|
|
R7318:Acap2
|
UTSW |
16 |
31,127,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7514:Acap2
|
UTSW |
16 |
31,154,567 (GRCm38) |
splice site |
probably null |
|
|
R7875:Acap2
|
UTSW |
16 |
31,139,641 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8256:Acap2
|
UTSW |
16 |
31,139,469 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9026:Acap2
|
UTSW |
16 |
31,107,088 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9177:Acap2
|
UTSW |
16 |
31,136,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9252:Acap2
|
UTSW |
16 |
31,101,823 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9268:Acap2
|
UTSW |
16 |
31,136,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9329:Acap2
|
UTSW |
16 |
31,127,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9467:Acap2
|
UTSW |
16 |
31,111,083 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9528:Acap2
|
UTSW |
16 |
31,111,090 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9762:Acap2
|
UTSW |
16 |
31,110,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation