Incidental Mutation 'R4821:Cap2'
| ID |
370246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
| Synonyms |
2810452G09Rik |
| MMRRC Submission |
042437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R4821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46763586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 164
(T164N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
| AlphaFold |
Q9CYT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021802
AA Change: T164N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: T164N
| 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 |
noncoding transcript
Transcript: ENSMUST00000225040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225444
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225824
AA Change: T109N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1274 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (79/79) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,871 (GRCm39) |
K150R |
probably damaging |
Het |
| Aak1 |
T |
C |
6: 86,827,171 (GRCm39) |
V46A |
probably damaging |
Het |
| Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
| Adam33 |
G |
A |
2: 130,903,115 (GRCm39) |
P43L |
probably benign |
Het |
| Adamtsl2 |
T |
A |
2: 26,988,604 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
G |
7: 75,327,255 (GRCm39) |
|
probably benign |
Het |
| Art1 |
T |
A |
7: 101,756,385 (GRCm39) |
L192Q |
probably damaging |
Het |
| Baalc |
A |
G |
15: 38,796,575 (GRCm39) |
|
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,946,978 (GRCm39) |
E164G |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,631,144 (GRCm39) |
I391V |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,673,386 (GRCm39) |
T497A |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,751,225 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
T |
C |
12: 100,904,338 (GRCm39) |
N1120S |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,612,452 (GRCm39) |
E96G |
possibly damaging |
Het |
| Chd7 |
T |
A |
4: 8,844,706 (GRCm39) |
V1605D |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,622,622 (GRCm39) |
|
probably benign |
Het |
| Commd3 |
T |
C |
2: 18,677,339 (GRCm39) |
S22P |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,063 (GRCm39) |
I244V |
probably benign |
Het |
| Cpeb2 |
C |
A |
5: 43,390,817 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,635 (GRCm39) |
D165G |
probably damaging |
Het |
| Ddx1 |
T |
C |
12: 13,289,148 (GRCm39) |
Y152C |
probably damaging |
Het |
| Dennd4a |
G |
A |
9: 64,804,531 (GRCm39) |
C1290Y |
possibly damaging |
Het |
| Ebf4 |
G |
A |
2: 130,148,965 (GRCm39) |
M232I |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,502,192 (GRCm39) |
|
probably null |
Het |
| Frk |
T |
C |
10: 34,360,233 (GRCm39) |
V78A |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,782,098 (GRCm39) |
D90G |
probably damaging |
Het |
| Gpr45 |
C |
G |
1: 43,069,613 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
C |
T |
5: 107,002,606 (GRCm39) |
|
probably null |
Het |
| Igkv4-57-1 |
T |
A |
6: 69,521,387 (GRCm39) |
D105V |
probably damaging |
Het |
| Impdh2-ps |
A |
G |
8: 100,757,995 (GRCm39) |
|
noncoding transcript |
Het |
| Kctd4 |
G |
A |
14: 76,200,217 (GRCm39) |
V63I |
probably benign |
Het |
| Lcn6 |
T |
A |
2: 25,570,822 (GRCm39) |
L137M |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,687,126 (GRCm39) |
N737D |
probably benign |
Het |
| Mcu |
C |
T |
10: 59,303,511 (GRCm39) |
V109M |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,039,500 (GRCm39) |
K186N |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,384,727 (GRCm39) |
D533G |
probably damaging |
Het |
| Nae1 |
A |
C |
8: 105,246,416 (GRCm39) |
C294G |
probably damaging |
Het |
| Ncapg2 |
T |
G |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nkx2-2 |
A |
T |
2: 147,027,763 (GRCm39) |
L59Q |
possibly damaging |
Het |
| Nrxn3 |
C |
T |
12: 90,171,483 (GRCm39) |
T295I |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,897,652 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,931,293 (GRCm39) |
M5781K |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,206 (GRCm39) |
T77A |
possibly damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,570 (GRCm39) |
|
noncoding transcript |
Het |
| Or4z4 |
T |
A |
19: 12,076,110 (GRCm39) |
M298L |
probably benign |
Het |
| Pcdhb6 |
C |
A |
18: 37,467,381 (GRCm39) |
P101T |
probably damaging |
Het |
| Pot1b |
A |
G |
17: 55,979,885 (GRCm39) |
S324P |
possibly damaging |
Het |
| Potefam1 |
T |
C |
2: 111,034,490 (GRCm39) |
|
probably null |
Het |
| Ppcdc |
C |
T |
9: 57,342,194 (GRCm39) |
V43I |
probably benign |
Het |
| Prr13 |
A |
T |
15: 102,369,120 (GRCm39) |
|
probably benign |
Het |
| Rab10os |
T |
A |
12: 3,287,322 (GRCm39) |
|
noncoding transcript |
Het |
| Rabgap1 |
T |
C |
2: 37,422,531 (GRCm39) |
S595P |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,439,440 (GRCm39) |
S126P |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,114,185 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
T |
A |
5: 31,194,228 (GRCm39) |
K610* |
probably null |
Het |
| Sun5 |
C |
T |
2: 153,711,386 (GRCm39) |
V27I |
probably benign |
Het |
| Tmco5b |
T |
C |
2: 113,120,102 (GRCm39) |
I126T |
probably benign |
Het |
| Tmed7 |
G |
A |
18: 46,726,480 (GRCm39) |
Q92* |
probably null |
Het |
| Trav7d-2 |
A |
G |
14: 52,921,885 (GRCm39) |
D98G |
probably benign |
Het |
| Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,485,848 (GRCm39) |
V2986A |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,064,310 (GRCm39) |
V58A |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,293 (GRCm39) |
M373L |
probably benign |
Het |
| Ywhaq |
T |
C |
12: 21,467,512 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
G |
A |
3: 74,989,054 (GRCm39) |
H345Y |
possibly damaging |
Het |
| Zfp346 |
G |
T |
13: 55,261,626 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
C |
T |
11: 73,975,033 (GRCm39) |
A434V |
probably benign |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
|
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 |
|
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'- AGTGTTCCTGCAGCCTTTAAA -3'
(R):5'- GTGGCTTTCCCTATAAAAGTAGGAT -3'
Sequencing Primer
(F):5'- AAAACACCCACCGCCTC -3'
(R):5'- TTCAAGACAAGGTCTCATGTGGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation