Incidental Mutation 'R8731:Cap2'
| ID |
662769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
| Synonyms |
2810452G09Rik |
| MMRRC Submission |
068579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8731 (G1)
|
| Quality Score |
208.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46800006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 404
(M404T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
| AlphaFold |
Q9CYT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021802
AA Change: M404T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: M404T
| 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 |
possibly damaging
Transcript: ENSMUST00000119341
AA Change: M292T
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: M292T
| 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 |
probably benign
Transcript: ENSMUST00000225824
AA Change: M349T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 95.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
T |
3: 59,932,367 (GRCm39) |
D294V |
probably benign |
Het |
| Abcc8 |
T |
G |
7: 45,803,986 (GRCm39) |
Y396S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,861,426 (GRCm39) |
F192I |
possibly damaging |
Het |
| Apeh |
A |
G |
9: 107,964,422 (GRCm39) |
S494P |
probably benign |
Het |
| Bod1 |
A |
G |
11: 31,619,242 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
A |
T |
5: 43,892,788 (GRCm39) |
D1450V |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,163,747 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,752,756 (GRCm39) |
S342A |
|
Het |
| Cox10 |
A |
G |
11: 63,855,045 (GRCm39) |
F412S |
probably damaging |
Het |
| Cracr2a |
T |
G |
6: 127,602,890 (GRCm39) |
|
probably null |
Het |
| Dcaf7 |
T |
A |
11: 105,945,548 (GRCm39) |
M299K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,059,101 (GRCm39) |
T59A |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,844,535 (GRCm39) |
M234V |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,072 (GRCm39) |
V1116E |
possibly damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,157 (GRCm39) |
C39Y |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,607,018 (GRCm39) |
V2565D |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,968,898 (GRCm39) |
Y59N |
possibly damaging |
Het |
| Gm21680 |
A |
T |
5: 26,173,230 (GRCm39) |
V210D |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,089,434 (GRCm39) |
N163K |
probably benign |
Het |
| Gnas |
T |
C |
2: 174,126,699 (GRCm39) |
V78A |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,234,555 (GRCm39) |
T509A |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,925,574 (GRCm39) |
M60T |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,742,016 (GRCm39) |
Q686R |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk3 |
T |
G |
8: 86,085,634 (GRCm39) |
E300A |
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,799,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,806,486 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
C |
14: 123,837,266 (GRCm39) |
I33V |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,814,609 (GRCm39) |
Y270C |
probably damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,268 (GRCm39) |
A96V |
probably benign |
Het |
| Otulin |
A |
G |
15: 27,608,928 (GRCm39) |
M205T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,605,059 (GRCm39) |
V1615E |
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn3a |
A |
T |
2: 65,298,507 (GRCm39) |
Y1397* |
probably null |
Het |
| Scrib |
A |
T |
15: 75,935,488 (GRCm39) |
H549Q |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,631,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,541 (GRCm39) |
S148T |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,415,435 (GRCm39) |
L590Q |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,673,596 (GRCm39) |
V1567A |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,717,310 (GRCm39) |
F237S |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,629,363 (GRCm39) |
L737Q |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,404 (GRCm39) |
F726L |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,447 (GRCm39) |
L823* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,265,756 (GRCm39) |
N508D |
probably benign |
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 |
|
|
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 |
|
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'- AGATGACACTTGCCCTGCAC -3'
(R):5'- CACCTCTCTAAGAATGCTAACATG -3'
Sequencing Primer
(F):5'- TTGCCCTGCACGTAGACACAG -3'
(R):5'- TACACCACAAAGCCTTTTCTGGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation