Incidental Mutation 'R6086:Cap2'
ID |
482503 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cap2
|
Ensembl Gene |
ENSMUSG00000021373 |
Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
Synonyms |
2810452G09Rik |
MMRRC Submission |
044427-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6086 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 46789188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 131
(P131Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112952
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
AlphaFold |
Q9CYT6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021802
AA Change: P243Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021802 Gene: ENSMUSG00000021373 AA Change: P243Q
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: P131Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112952 Gene: ENSMUSG00000021373 AA Change: P131Q
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 damaging
Transcript: ENSMUST00000225824
AA Change: P188Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.2986 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (65/68) |
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 |
Apob |
G |
T |
12: 8,065,164 (GRCm39) |
K4044N |
probably benign |
Het |
Asic4 |
G |
A |
1: 75,449,887 (GRCm39) |
V468I |
possibly damaging |
Het |
Atf4 |
T |
A |
15: 80,141,654 (GRCm39) |
V348D |
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,112,840 (GRCm39) |
V1205A |
possibly damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Cdyl2 |
A |
G |
8: 117,316,035 (GRCm39) |
S318P |
probably damaging |
Het |
Ces1a |
T |
G |
8: 93,753,981 (GRCm39) |
N341H |
probably benign |
Het |
Cimap2 |
T |
C |
4: 106,470,403 (GRCm39) |
E218G |
probably damaging |
Het |
Crlf3 |
C |
T |
11: 79,939,436 (GRCm39) |
V352M |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyren |
A |
G |
6: 34,851,555 (GRCm39) |
S127P |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,406,834 (GRCm39) |
T529A |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,880,741 (GRCm39) |
D2619N |
probably damaging |
Het |
Dnah9 |
A |
C |
11: 65,976,000 (GRCm39) |
S1350A |
probably benign |
Het |
Dnajc6 |
C |
T |
4: 101,455,004 (GRCm39) |
S65L |
probably benign |
Het |
Dnm3 |
C |
A |
1: 162,148,602 (GRCm39) |
R256S |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,709,230 (GRCm39) |
D795G |
probably damaging |
Het |
Fah |
A |
T |
7: 84,238,120 (GRCm39) |
W367R |
probably damaging |
Het |
Fam220a |
T |
A |
5: 143,548,796 (GRCm39) |
H69Q |
probably benign |
Het |
Fgd3 |
T |
A |
13: 49,440,772 (GRCm39) |
T220S |
probably benign |
Het |
Furin |
G |
T |
7: 80,045,179 (GRCm39) |
H248Q |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,911,396 (GRCm39) |
L410Q |
probably damaging |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Gm9742 |
T |
C |
13: 8,080,069 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
A |
G |
2: 132,380,034 (GRCm39) |
S252P |
probably damaging |
Het |
Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
Hspa1l |
T |
C |
17: 35,197,131 (GRCm39) |
V390A |
possibly damaging |
Het |
Htr3b |
T |
C |
9: 48,858,598 (GRCm39) |
S94G |
probably benign |
Het |
Klf10 |
G |
T |
15: 38,297,181 (GRCm39) |
S271R |
probably benign |
Het |
Klk1b3 |
T |
A |
7: 43,851,158 (GRCm39) |
L197Q |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,924,549 (GRCm39) |
R1861G |
probably damaging |
Het |
Myo9a |
C |
T |
9: 59,697,340 (GRCm39) |
Q374* |
probably null |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Ncapg |
T |
C |
5: 45,850,578 (GRCm39) |
L728P |
probably damaging |
Het |
Nfxl1 |
A |
C |
5: 72,698,362 (GRCm39) |
F228V |
probably benign |
Het |
Ntaq1 |
C |
A |
15: 58,014,024 (GRCm39) |
A71E |
probably damaging |
Het |
Oc90 |
A |
G |
15: 65,761,560 (GRCm39) |
S153P |
probably damaging |
Het |
Or4c123 |
A |
G |
2: 89,127,198 (GRCm39) |
C139R |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,079,745 (GRCm39) |
*308Q |
probably null |
Het |
Pbk |
A |
T |
14: 66,052,702 (GRCm39) |
K182* |
probably null |
Het |
Piezo1 |
A |
G |
8: 123,228,396 (GRCm39) |
F296S |
possibly damaging |
Het |
Psmg1 |
T |
A |
16: 95,781,244 (GRCm39) |
Y288F |
probably damaging |
Het |
Rab11fip4 |
G |
A |
11: 79,574,306 (GRCm39) |
D132N |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,588,787 (GRCm39) |
D1051G |
probably damaging |
Het |
Reep5 |
A |
C |
18: 34,490,184 (GRCm39) |
D104E |
probably damaging |
Het |
Rnpepl1 |
T |
C |
1: 92,845,403 (GRCm39) |
Y441H |
probably damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Sema3b |
T |
C |
9: 107,478,047 (GRCm39) |
D446G |
probably damaging |
Het |
Sema4d |
C |
T |
13: 51,867,781 (GRCm39) |
R190Q |
probably damaging |
Het |
Slco3a1 |
G |
A |
7: 73,968,338 (GRCm39) |
R461C |
possibly damaging |
Het |
Spmap2l |
T |
A |
5: 77,209,152 (GRCm39) |
V458E |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,899,473 (GRCm39) |
I2562F |
possibly damaging |
Het |
Tmem40 |
G |
T |
6: 115,710,628 (GRCm39) |
N120K |
possibly damaging |
Het |
Tmod3 |
T |
C |
9: 75,407,405 (GRCm39) |
H351R |
probably benign |
Het |
Tnn |
C |
T |
1: 159,913,690 (GRCm39) |
V1268M |
probably damaging |
Het |
Tpmt |
T |
A |
13: 47,188,506 (GRCm39) |
D132V |
probably damaging |
Het |
Trgc3 |
T |
C |
13: 19,447,454 (GRCm39) |
S136P |
probably damaging |
Het |
Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
Tsen2 |
A |
G |
6: 115,537,036 (GRCm39) |
E264G |
probably benign |
Het |
Urah |
A |
G |
7: 140,416,711 (GRCm39) |
I60M |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,016,519 (GRCm39) |
S328T |
possibly damaging |
Het |
Vmn2r27 |
G |
C |
6: 124,168,958 (GRCm39) |
T724R |
probably damaging |
Het |
Washc2 |
A |
G |
6: 116,233,177 (GRCm39) |
|
probably null |
Het |
Zfp955b |
T |
A |
17: 33,521,478 (GRCm39) |
W316R |
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,248,883 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TTCCAAAAGGCTCTCGATGC -3'
(R):5'- GGCATACATTTCCCTGAGGC -3'
|
Posted On |
2017-07-14 |