Incidental Mutation 'IGL02213:Cap2'
| ID |
284765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
| Synonyms |
2810452G09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL02213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 46789087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
| AlphaFold |
Q9CYT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021802
|
| SMART Domains |
Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
5 |
301 |
2.6e-117 |
PFAM |
|
CARP
|
358 |
395 |
1.06e-10 |
SMART |
|
CARP
|
396 |
433 |
1.12e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119341
|
| SMART Domains |
Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
4 |
105 |
1.8e-25 |
PFAM |
|
Pfam:CAP_N
|
99 |
198 |
8.2e-29 |
PFAM |
|
CARP
|
246 |
283 |
1.06e-10 |
SMART |
|
CARP
|
284 |
321 |
1.12e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225824
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,523,254 (GRCm39) |
R458C |
probably damaging |
Het |
| Aldh6a1 |
T |
A |
12: 84,479,326 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
C |
T |
5: 114,924,029 (GRCm39) |
R42W |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,539,633 (GRCm39) |
M73V |
probably benign |
Het |
| Borcs6 |
A |
G |
11: 68,950,679 (GRCm39) |
E19G |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,247 (GRCm39) |
R425C |
probably damaging |
Het |
| Ccdc146 |
C |
T |
5: 21,521,902 (GRCm39) |
R374H |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,235,839 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Dleu7 |
C |
T |
14: 62,514,404 (GRCm39) |
V193M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,741 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,272,752 (GRCm39) |
F2293L |
probably damaging |
Het |
| Fgf22 |
G |
T |
10: 79,592,449 (GRCm39) |
V75L |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,793,730 (GRCm39) |
C1017* |
probably null |
Het |
| Frmd3 |
A |
C |
4: 74,054,109 (GRCm39) |
I173L |
probably benign |
Het |
| Fst |
T |
C |
13: 114,592,390 (GRCm39) |
N109S |
possibly damaging |
Het |
| Greb1 |
A |
G |
12: 16,756,233 (GRCm39) |
L801P |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,715,502 (GRCm39) |
D515G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,569,706 (GRCm39) |
D730G |
probably damaging |
Het |
| Mbd1 |
A |
T |
18: 74,408,453 (GRCm39) |
I231F |
probably damaging |
Het |
| Mre11a |
T |
A |
9: 14,723,180 (GRCm39) |
F358I |
probably damaging |
Het |
| Mroh9 |
G |
T |
1: 162,885,648 (GRCm39) |
T328K |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,262 (GRCm39) |
L406P |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,112,679 (GRCm39) |
Q159L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,971,232 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,020 (GRCm39) |
T150S |
probably benign |
Het |
| Or51af1 |
T |
A |
7: 103,141,695 (GRCm39) |
H130L |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,511 (GRCm39) |
I221T |
probably damaging |
Het |
| Pfdn4 |
C |
T |
2: 170,357,695 (GRCm39) |
Q21* |
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,977 (GRCm39) |
F823S |
probably damaging |
Het |
| Rnf212 |
C |
T |
5: 108,895,276 (GRCm39) |
|
probably benign |
Het |
| Sbspon |
T |
C |
1: 15,929,150 (GRCm39) |
S214G |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,945,822 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,310 (GRCm39) |
M485L |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,612,351 (GRCm39) |
V561A |
possibly damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,726 (GRCm39) |
T485A |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,834 (GRCm39) |
T159A |
probably benign |
Het |
|
| Other mutations in Cap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01810:Cap2
|
APN |
13 |
46,793,425 (GRCm39) |
splice site |
probably benign |
|
|
IGL01927:Cap2
|
APN |
13 |
46,789,109 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02511:Cap2
|
APN |
13 |
46,684,498 (GRCm39) |
start codon destroyed |
probably null |
0.12 |
|
IGL02871:Cap2
|
APN |
13 |
46,678,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0063:Cap2
|
UTSW |
13 |
46,791,508 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Cap2
|
UTSW |
13 |
46,791,508 (GRCm39) |
splice site |
probably benign |
|
|
R0234:Cap2
|
UTSW |
13 |
46,791,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0234:Cap2
|
UTSW |
13 |
46,791,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0385:Cap2
|
UTSW |
13 |
46,714,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Cap2
|
UTSW |
13 |
46,713,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0712:Cap2
|
UTSW |
13 |
46,768,837 (GRCm39) |
splice site |
probably null |
|
|
R1489:Cap2
|
UTSW |
13 |
46,763,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Cap2
|
UTSW |
13 |
46,768,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1668:Cap2
|
UTSW |
13 |
46,768,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1676:Cap2
|
UTSW |
13 |
46,791,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Cap2
|
UTSW |
13 |
46,684,489 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1822:Cap2
|
UTSW |
13 |
46,768,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1867:Cap2
|
UTSW |
13 |
46,793,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Cap2
|
UTSW |
13 |
46,791,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1990:Cap2
|
UTSW |
13 |
46,791,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1991:Cap2
|
UTSW |
13 |
46,791,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1992:Cap2
|
UTSW |
13 |
46,791,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2144:Cap2
|
UTSW |
13 |
46,713,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3039:Cap2
|
UTSW |
13 |
46,793,317 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4024:Cap2
|
UTSW |
13 |
46,791,317 (GRCm39) |
splice site |
probably benign |
|
|
R4554:Cap2
|
UTSW |
13 |
46,789,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Cap2
|
UTSW |
13 |
46,793,302 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4821:Cap2
|
UTSW |
13 |
46,763,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4876:Cap2
|
UTSW |
13 |
46,684,497 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4902:Cap2
|
UTSW |
13 |
46,684,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5320:Cap2
|
UTSW |
13 |
46,801,840 (GRCm39) |
makesense |
probably null |
|
|
R5666:Cap2
|
UTSW |
13 |
46,684,559 (GRCm39) |
splice site |
probably null |
|
|
R5670:Cap2
|
UTSW |
13 |
46,684,559 (GRCm39) |
splice site |
probably null |
|
|
R6086:Cap2
|
UTSW |
13 |
46,789,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Cap2
|
UTSW |
13 |
46,793,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6842:Cap2
|
UTSW |
13 |
46,800,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Cap2
|
UTSW |
13 |
46,789,224 (GRCm39) |
missense |
probably benign |
|
|
R7889:Cap2
|
UTSW |
13 |
46,800,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8065:Cap2
|
UTSW |
13 |
46,791,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8205:Cap2
|
UTSW |
13 |
46,768,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Cap2
|
UTSW |
13 |
46,763,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8731:Cap2
|
UTSW |
13 |
46,800,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Cap2
|
UTSW |
13 |
46,684,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9320:Cap2
|
UTSW |
13 |
46,768,818 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9491:Cap2
|
UTSW |
13 |
46,791,366 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9686:Cap2
|
UTSW |
13 |
46,678,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation