Incidental Mutation 'IGL01810:Cap2'
| ID |
155826 |
| 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 # |
IGL01810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 46793425 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
G |
T |
11: 101,308,185 (GRCm39) |
Y10* |
probably null |
Het |
| Aass |
C |
A |
6: 23,107,633 (GRCm39) |
Q383H |
probably damaging |
Het |
| Bag1 |
T |
C |
4: 40,936,657 (GRCm39) |
D333G |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,903 (GRCm39) |
V726A |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,374,638 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,717,788 (GRCm39) |
D595G |
possibly damaging |
Het |
| Ercc2 |
G |
T |
7: 19,127,374 (GRCm39) |
R340L |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,640 (GRCm39) |
T35A |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,581 (GRCm39) |
Y525H |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,795 (GRCm39) |
Q309R |
probably benign |
Het |
| Gm5263 |
T |
C |
1: 146,296,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
C |
19: 23,653,751 (GRCm39) |
R180S |
probably damaging |
Het |
| Gpr182 |
C |
A |
10: 127,586,733 (GRCm39) |
V73F |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,227,069 (GRCm39) |
R179H |
probably damaging |
Het |
| Hk1 |
C |
T |
10: 62,188,884 (GRCm39) |
A10T |
probably benign |
Het |
| Hmgn3 |
C |
A |
9: 82,992,437 (GRCm39) |
|
probably benign |
Het |
| Il1b |
C |
T |
2: 129,211,649 (GRCm39) |
E24K |
probably damaging |
Het |
| Itgb6 |
G |
T |
2: 60,458,329 (GRCm39) |
Q475K |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,363,422 (GRCm39) |
S368P |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,916,469 (GRCm39) |
T234A |
possibly damaging |
Het |
| Muc6 |
A |
T |
7: 141,237,327 (GRCm39) |
Y270N |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,424,603 (GRCm39) |
|
probably benign |
Het |
| Or4b13 |
A |
T |
2: 90,082,476 (GRCm39) |
Y285* |
probably null |
Het |
| Pear1 |
G |
A |
3: 87,659,608 (GRCm39) |
T742I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,491 (GRCm39) |
V238I |
probably benign |
Het |
| Pira2 |
A |
G |
7: 3,847,611 (GRCm39) |
L26P |
probably damaging |
Het |
| Pot1b |
A |
G |
17: 55,969,521 (GRCm39) |
V549A |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,432,384 (GRCm39) |
Y295C |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,058,744 (GRCm39) |
|
probably benign |
Het |
| Rap1gap |
A |
T |
4: 137,443,466 (GRCm39) |
M145L |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,388 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,133,765 (GRCm39) |
I258T |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,565 (GRCm39) |
Y1941H |
possibly damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,707,468 (GRCm39) |
E420G |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Tpx2 |
G |
T |
2: 152,726,155 (GRCm39) |
Q373H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,352 (GRCm39) |
R29914Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,809 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,230,730 (GRCm39) |
G53D |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,863,062 (GRCm39) |
H3026L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,461,888 (GRCm39) |
E1097G |
unknown |
Het |
|
| Other mutations in Cap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01927:Cap2
|
APN |
13 |
46,789,109 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02213:Cap2
|
APN |
13 |
46,789,087 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation