Incidental Mutation 'R4902:Cap2'
ID |
377895 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cap2
|
Ensembl Gene |
ENSMUSG00000021373 |
Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
Synonyms |
2810452G09Rik |
MMRRC Submission |
042505-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R4902 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46684501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 2
(V2A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
AlphaFold |
Q9CYT6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021802
AA Change: V57A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000021802 Gene: ENSMUSG00000021373 AA Change: V57A
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: V57A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112952 Gene: ENSMUSG00000021373 AA Change: V57A
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: V2A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.6090 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
100% (84/84) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930488N24Rik |
T |
C |
17: 14,326,408 (GRCm39) |
|
noncoding transcript |
Het |
Adamdec1 |
T |
C |
14: 68,809,215 (GRCm39) |
N249S |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,241,751 (GRCm39) |
V767E |
probably benign |
Het |
Atp6v1f |
T |
C |
6: 29,470,271 (GRCm39) |
|
probably benign |
Het |
Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
Chrnb2 |
A |
G |
3: 89,668,248 (GRCm39) |
C356R |
probably damaging |
Het |
Chtf8 |
C |
T |
8: 107,612,424 (GRCm39) |
G172R |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dact2 |
T |
A |
17: 14,416,991 (GRCm39) |
K403M |
possibly damaging |
Het |
Dhx40 |
A |
C |
11: 86,662,036 (GRCm39) |
L674V |
possibly damaging |
Het |
Dlc1 |
A |
G |
8: 37,044,285 (GRCm39) |
V1230A |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,329,935 (GRCm39) |
S3260T |
probably benign |
Het |
Eef1a2 |
T |
A |
2: 180,789,881 (GRCm39) |
D428V |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,344,273 (GRCm39) |
F178L |
possibly damaging |
Het |
Eif4a3l1 |
T |
G |
6: 136,306,262 (GRCm39) |
V241G |
probably benign |
Het |
F2 |
A |
T |
2: 91,465,316 (GRCm39) |
|
probably benign |
Het |
Fam186a |
T |
C |
15: 99,844,723 (GRCm39) |
D507G |
unknown |
Het |
Fbxo11 |
G |
A |
17: 88,372,702 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
T |
5: 150,419,168 (GRCm39) |
M2871L |
probably benign |
Het |
Gabrr2 |
A |
G |
4: 33,095,512 (GRCm39) |
D442G |
probably damaging |
Het |
Gemin5 |
A |
G |
11: 58,055,103 (GRCm39) |
I214T |
probably benign |
Het |
Gfra2 |
A |
G |
14: 71,204,455 (GRCm39) |
N175S |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Jhy |
C |
T |
9: 40,808,821 (GRCm39) |
|
probably benign |
Het |
Krtap5-5 |
A |
T |
7: 141,783,156 (GRCm39) |
C165S |
unknown |
Het |
Lce1k |
T |
A |
3: 92,714,134 (GRCm39) |
T17S |
unknown |
Het |
Map3k1 |
C |
T |
13: 111,909,146 (GRCm39) |
R268Q |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,883,195 (GRCm39) |
H1351Q |
probably damaging |
Het |
Met |
T |
C |
6: 17,546,995 (GRCm39) |
V876A |
probably damaging |
Het |
Mical2 |
T |
C |
7: 111,936,107 (GRCm39) |
S903P |
probably benign |
Het |
Mkks |
A |
G |
2: 136,718,094 (GRCm39) |
V396A |
probably benign |
Het |
Mvk |
T |
C |
5: 114,594,060 (GRCm39) |
V305A |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,081,360 (GRCm39) |
T982A |
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,588,311 (GRCm39) |
V209A |
probably benign |
Het |
Nfkbib |
G |
T |
7: 28,461,173 (GRCm39) |
S158* |
probably null |
Het |
Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
Ogfr |
A |
G |
2: 180,235,518 (GRCm39) |
|
probably benign |
Het |
Or10a3 |
G |
A |
7: 108,480,624 (GRCm39) |
T63I |
probably benign |
Het |
Or2t43 |
G |
A |
11: 58,457,451 (GRCm39) |
S240F |
possibly damaging |
Het |
Or8s8 |
T |
C |
15: 98,354,796 (GRCm39) |
S202P |
probably damaging |
Het |
Pcdhga8 |
T |
A |
18: 37,948,978 (GRCm39) |
D131E |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,648,264 (GRCm39) |
|
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Ppp1r12a |
T |
C |
10: 108,066,451 (GRCm39) |
V214A |
probably damaging |
Het |
Prr5l |
A |
G |
2: 101,628,027 (GRCm39) |
|
probably benign |
Het |
Prss35 |
A |
G |
9: 86,638,175 (GRCm39) |
Q315R |
probably damaging |
Het |
Psg29 |
G |
T |
7: 16,945,837 (GRCm39) |
*469L |
probably null |
Het |
Psmd4 |
A |
G |
3: 94,943,170 (GRCm39) |
V78A |
probably damaging |
Het |
Rad9a |
C |
A |
19: 4,251,552 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
G |
T |
9: 72,524,573 (GRCm39) |
V588F |
probably benign |
Het |
Rnase13 |
A |
C |
14: 52,160,052 (GRCm39) |
I29S |
probably benign |
Het |
Steap2 |
T |
C |
5: 5,725,866 (GRCm39) |
N386S |
possibly damaging |
Het |
Ston1 |
A |
G |
17: 88,952,680 (GRCm39) |
E719G |
probably damaging |
Het |
Stx4a |
A |
G |
7: 127,441,934 (GRCm39) |
|
probably null |
Het |
Tekt2 |
A |
G |
4: 126,217,263 (GRCm39) |
S212P |
possibly damaging |
Het |
Tex19.2 |
A |
T |
11: 121,007,782 (GRCm39) |
L222Q |
probably damaging |
Het |
Tmem50a |
A |
G |
4: 134,637,017 (GRCm39) |
I38T |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,296,922 (GRCm39) |
V286A |
possibly damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,151,159 (GRCm39) |
M255T |
possibly damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,601,220 (GRCm39) |
F839L |
probably benign |
Het |
Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
Wtip |
A |
T |
7: 33,818,437 (GRCm39) |
|
probably null |
Het |
Yeats2 |
G |
A |
16: 20,026,418 (GRCm39) |
G765S |
probably benign |
Het |
Zbtb3 |
T |
C |
19: 8,781,331 (GRCm39) |
S315P |
probably benign |
Het |
Zdhhc8 |
T |
C |
16: 18,045,030 (GRCm39) |
M259V |
probably benign |
Het |
Zfp120 |
A |
G |
2: 149,961,440 (GRCm39) |
|
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,627,543 (GRCm39) |
I1552N |
possibly 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 |
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 |
|
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'- CATCGTAAATGTGGGGTGAGCG -3'
(R):5'- GGGCAGAACTCTCTTGTCTC -3'
Sequencing Primer
(F):5'- TGAGCGGAGGAATGAGTGACTG -3'
(R):5'- GAATTCCTGGTACCTTCTGATGC -3'
|
Posted On |
2016-04-15 |