Incidental Mutation 'R0385:Cap2'
ID |
31250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cap2
|
Ensembl Gene |
ENSMUSG00000021373 |
Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
Synonyms |
2810452G09Rik |
MMRRC Submission |
038591-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46714023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 34
(L34P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
AlphaFold |
Q9CYT6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021802
AA Change: L89P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021802 Gene: ENSMUSG00000021373 AA Change: L89P
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 damaging
Transcript: ENSMUST00000119341
AA Change: L89P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112952 Gene: ENSMUSG00000021373 AA Change: L89P
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 damaging
Transcript: ENSMUST00000225824
AA Change: L34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,122,574 (GRCm39) |
N331S |
probably benign |
Het |
Adk |
A |
G |
14: 21,368,142 (GRCm39) |
N189S |
probably benign |
Het |
Apc |
T |
A |
18: 34,448,997 (GRCm39) |
N1930K |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,171,601 (GRCm39) |
D391G |
probably damaging |
Het |
Atn1 |
G |
T |
6: 124,720,334 (GRCm39) |
|
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,987,216 (GRCm39) |
E471G |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdc42ep2 |
T |
A |
19: 5,968,553 (GRCm39) |
M51L |
probably benign |
Het |
Cntn5 |
C |
T |
9: 9,972,875 (GRCm39) |
A254T |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,670,433 (GRCm39) |
L1044H |
probably damaging |
Het |
Dkk3 |
A |
C |
7: 111,757,430 (GRCm39) |
M58R |
probably damaging |
Het |
Dpy19l3 |
G |
A |
7: 35,452,130 (GRCm39) |
R5W |
probably damaging |
Het |
Dsg1c |
C |
T |
18: 20,416,711 (GRCm39) |
P871S |
probably damaging |
Het |
Dusp1 |
A |
T |
17: 26,726,670 (GRCm39) |
S131T |
probably benign |
Het |
Enpp2 |
C |
T |
15: 54,745,555 (GRCm39) |
G314R |
probably damaging |
Het |
Entr1 |
T |
C |
2: 26,277,671 (GRCm39) |
E41G |
possibly damaging |
Het |
Fam222b |
C |
A |
11: 78,045,756 (GRCm39) |
P439Q |
probably benign |
Het |
Fastkd2 |
A |
T |
1: 63,776,970 (GRCm39) |
I369F |
probably benign |
Het |
Fdps |
G |
A |
3: 89,002,201 (GRCm39) |
S205F |
probably damaging |
Het |
Fmo1 |
A |
T |
1: 162,663,773 (GRCm39) |
V252E |
possibly damaging |
Het |
Frmd5 |
A |
G |
2: 121,386,055 (GRCm39) |
Y230H |
probably damaging |
Het |
Gal |
C |
T |
19: 3,461,171 (GRCm39) |
V88I |
probably benign |
Het |
Gnptab |
T |
C |
10: 88,272,387 (GRCm39) |
I1009T |
probably damaging |
Het |
Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,016 (GRCm39) |
D310E |
probably benign |
Het |
Klk4 |
T |
C |
7: 43,533,432 (GRCm39) |
M97T |
probably benign |
Het |
Krt82 |
C |
T |
15: 101,454,028 (GRCm39) |
V227M |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,580,587 (GRCm39) |
V226A |
probably damaging |
Het |
Mbd1 |
AGCTGACTCGGTAC |
A |
18: 74,406,312 (GRCm39) |
|
probably null |
Het |
Mcm10 |
T |
C |
2: 5,008,965 (GRCm39) |
K335E |
possibly damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Myb |
T |
C |
10: 21,030,611 (GRCm39) |
D62G |
possibly damaging |
Het |
Nasp |
A |
T |
4: 116,467,892 (GRCm39) |
N364K |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,224,573 (GRCm39) |
N317D |
probably damaging |
Het |
Nup210 |
A |
G |
6: 91,005,777 (GRCm39) |
V619A |
possibly damaging |
Het |
Oser1 |
C |
T |
2: 163,253,316 (GRCm39) |
|
probably null |
Het |
Pcdhb4 |
T |
C |
18: 37,442,268 (GRCm39) |
F526S |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,055,967 (GRCm39) |
N444S |
probably damaging |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Pou2f2 |
G |
A |
7: 24,815,501 (GRCm39) |
Q89* |
probably null |
Het |
Ptprb |
A |
G |
10: 116,186,083 (GRCm39) |
I1713V |
probably benign |
Het |
Ptprd |
A |
G |
4: 76,046,902 (GRCm39) |
Y442H |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,837,259 (GRCm39) |
I152N |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,823 (GRCm39) |
S1568P |
probably damaging |
Het |
Rhag |
T |
A |
17: 41,145,618 (GRCm39) |
V357E |
probably damaging |
Het |
Rnf121 |
A |
T |
7: 101,678,324 (GRCm39) |
D174E |
possibly damaging |
Het |
Sf3b4 |
T |
C |
3: 96,080,298 (GRCm39) |
Y16H |
probably damaging |
Het |
Slc1a3 |
C |
T |
15: 8,668,619 (GRCm39) |
V449I |
probably damaging |
Het |
Slc20a2 |
A |
G |
8: 23,058,409 (GRCm39) |
I648M |
probably benign |
Het |
Slc25a25 |
T |
A |
2: 32,307,834 (GRCm39) |
I254F |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,591,109 (GRCm39) |
H1307R |
probably damaging |
Het |
Sorl1 |
C |
A |
9: 41,943,205 (GRCm39) |
M890I |
probably damaging |
Het |
Supt16 |
A |
C |
14: 52,414,175 (GRCm39) |
M468R |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,916,817 (GRCm39) |
S56P |
probably benign |
Het |
Tapt1 |
T |
C |
5: 44,375,443 (GRCm39) |
|
probably null |
Het |
Tmco3 |
T |
G |
8: 13,346,027 (GRCm39) |
C288W |
probably damaging |
Het |
Tpcn2 |
A |
G |
7: 144,830,911 (GRCm39) |
Y145H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,712,061 (GRCm39) |
|
probably benign |
Het |
Usb1 |
G |
T |
8: 96,071,946 (GRCm39) |
W215C |
probably damaging |
Het |
Usp2 |
C |
G |
9: 44,004,047 (GRCm39) |
T305R |
probably damaging |
Het |
Vmn1r13 |
G |
A |
6: 57,187,690 (GRCm39) |
S283N |
probably benign |
Het |
Vps54 |
A |
G |
11: 21,256,381 (GRCm39) |
K467E |
possibly damaging |
Het |
Wnk2 |
G |
T |
13: 49,221,604 (GRCm39) |
S1121Y |
probably damaging |
Het |
Zbed6 |
A |
T |
1: 133,584,522 (GRCm39) |
D938E |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCACCGTCTCGTGGCTAAG -3'
(R):5'- AGTGGTGGCATCCATTGTCAAACC -3'
Sequencing Primer
(F):5'- gtcagagtgattggacattacaag -3'
(R):5'- cacacacacacacacacacG -3'
|
Posted On |
2013-04-24 |