Incidental Mutation 'R9491:Cap2'
| ID |
716943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
| Synonyms |
2810452G09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R9491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46791366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 290
(P290S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
| AlphaFold |
Q9CYT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021802
AA Change: P290S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: P290S
| 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: P178S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: P178S
| 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 |
possibly damaging
Transcript: ENSMUST00000225824
AA Change: P235S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
A |
9: 106,312,994 (GRCm39) |
T142I |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,236,052 (GRCm39) |
E453G |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,838,339 (GRCm39) |
|
probably null |
Het |
| Asmt |
G |
A |
X: 169,108,405 (GRCm39) |
G103D |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,800,505 (GRCm39) |
|
probably null |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,731,929 (GRCm39) |
S950P |
probably damaging |
Het |
| Cluap1 |
G |
A |
16: 3,758,732 (GRCm39) |
R398Q |
probably benign |
Het |
| Cmbl |
G |
T |
15: 31,582,119 (GRCm39) |
V39L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,877,369 (GRCm39) |
D536G |
probably benign |
Het |
| Ddx3y |
T |
A |
Y: 1,279,465 (GRCm39) |
D133V |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,156,907 (GRCm39) |
S525T |
probably benign |
Het |
| Eif2s2 |
T |
C |
2: 154,734,630 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gadd45a |
A |
T |
6: 67,012,730 (GRCm39) |
D137E |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,415,602 (GRCm39) |
D120G |
probably damaging |
Het |
| Gpr156 |
A |
T |
16: 37,825,704 (GRCm39) |
R640S |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,746,995 (GRCm39) |
M414K |
|
Het |
| Gtse1 |
C |
T |
15: 85,755,734 (GRCm39) |
P466L |
probably damaging |
Het |
| H6pd |
T |
A |
4: 150,080,366 (GRCm39) |
N160Y |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,452,981 (GRCm39) |
L496R |
probably damaging |
Het |
| Hnrnpk |
G |
T |
13: 58,541,050 (GRCm39) |
Q441K |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,854,141 (GRCm39) |
K637E |
unknown |
Het |
| Irgc |
C |
T |
7: 24,132,349 (GRCm39) |
R156H |
probably benign |
Het |
| Kazn |
C |
T |
4: 141,845,436 (GRCm39) |
A383T |
|
Het |
| Lmln |
A |
G |
16: 32,890,358 (GRCm39) |
E169G |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,852 (GRCm39) |
C326* |
probably null |
Het |
| Ncoa1 |
T |
A |
12: 4,340,912 (GRCm39) |
D840V |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,300,875 (GRCm39) |
D81G |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,606 (GRCm39) |
T140A |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,278,971 (GRCm39) |
V33A |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,832,828 (GRCm39) |
E384K |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,895 (GRCm39) |
L430H |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,056 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pheta1 |
G |
A |
5: 121,991,051 (GRCm39) |
A138T |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,772,359 (GRCm39) |
Y337F |
probably benign |
Het |
| Prcc |
A |
G |
3: 87,774,671 (GRCm39) |
V377A |
probably benign |
Het |
| Prrg2 |
T |
A |
7: 44,706,218 (GRCm39) |
Y133F |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,733,813 (GRCm39) |
V901A |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,424,869 (GRCm39) |
L335P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,037,835 (GRCm39) |
M1440K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,667,020 (GRCm39) |
|
probably null |
Het |
| Tbpl2 |
T |
C |
2: 23,986,532 (GRCm39) |
I6V |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,689 (GRCm39) |
H516L |
|
Het |
| Tmem8b |
C |
T |
4: 43,673,938 (GRCm39) |
R190C |
probably damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,752 (GRCm39) |
S196T |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,472 (GRCm39) |
N478S |
unknown |
Het |
| Vstm5 |
T |
G |
9: 15,168,586 (GRCm39) |
I50S |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,616 (GRCm39) |
C285* |
probably null |
Het |
| Zdhhc23 |
A |
C |
16: 43,794,062 (GRCm39) |
V204G |
probably benign |
Het |
| Zfp653 |
T |
A |
9: 21,969,622 (GRCm39) |
K215* |
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 |
|
|
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 |
|
R9686:Cap2
|
UTSW |
13 |
46,678,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTACCTACGCTGTGCCAC -3'
(R):5'- AAGATGGTTTTAGTGAGGCGAATC -3'
Sequencing Primer
(F):5'- ACGCATGCATAGTGTTCAGC -3'
(R):5'- TTAGTGAGGCGAATCATGTCAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation