Incidental Mutation 'R0602:Cap1'
| ID |
55481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap1
|
| Ensembl Gene |
ENSMUSG00000028656 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 1 |
| Synonyms |
|
| MMRRC Submission |
038791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.917)
|
| Stock # |
R0602 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
122752840-122779849 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122766202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 12
(E12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069533]
[ENSMUST00000106255]
[ENSMUST00000106257]
[ENSMUST00000128485]
|
| AlphaFold |
P40124 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069533
AA Change: E12G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
4 |
304 |
1e-129 |
PFAM |
|
CARP
|
355 |
392 |
2.09e-9 |
SMART |
|
CARP
|
393 |
430 |
1.18e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106255
AA Change: E12G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
5 |
294 |
4.2e-116 |
PFAM |
|
CARP
|
355 |
392 |
2.09e-9 |
SMART |
|
CARP
|
393 |
430 |
1.18e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106257
AA Change: E12G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
4 |
304 |
1e-129 |
PFAM |
|
CARP
|
355 |
392 |
2.09e-9 |
SMART |
|
CARP
|
393 |
430 |
1.18e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128485
AA Change: E12G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114847
Gene: ENSMUSG00000028656
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
4 |
164 |
2.3e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151041
|
| Meta Mutation Damage Score |
0.9234 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.7%
|
| Validation Efficiency |
95% (58/61) |
| MGI Phenotype |
FUNCTION: The product of this gene plays a role in regulating actin dynamics by binding actin monomers and promoting the turnover of actin filaments. Reduced expression of this gene causes a reduction in actin filament turnover rates, causing multiple defects, including an increase in cell size, stress-fiber alterations, and defects in endocytosis and cell motility. A pseudogene of this gene is found on chromosome 14. Alternative splicing results in multiple transcript variants, but does not affect the protein. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
T |
C |
7: 136,978,090 (GRCm39) |
|
probably benign |
Het |
| Arih1 |
A |
G |
9: 59,302,154 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,113,102 (GRCm39) |
I1118V |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,099,127 (GRCm39) |
K657I |
possibly damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,658 (GRCm39) |
I313V |
probably benign |
Het |
| Cd1d2 |
T |
C |
3: 86,895,110 (GRCm39) |
S161P |
probably benign |
Het |
| Cd226 |
C |
T |
18: 89,287,135 (GRCm39) |
T311I |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,369,063 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
T |
C |
9: 56,795,301 (GRCm39) |
F1012S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,364,002 (GRCm39) |
M3541V |
probably damaging |
Het |
| Erbb2 |
G |
A |
11: 98,325,097 (GRCm39) |
V852M |
probably damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,449,794 (GRCm39) |
T667P |
probably damaging |
Het |
| Gal3st2c |
A |
G |
1: 93,936,901 (GRCm39) |
Y282C |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,128,201 (GRCm39) |
L60P |
probably benign |
Het |
| Gtf2h2 |
A |
G |
13: 100,605,533 (GRCm39) |
V358A |
probably benign |
Het |
| H2ac18 |
T |
C |
3: 96,152,866 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
A |
9: 15,000,347 (GRCm39) |
I302F |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,765 (GRCm39) |
D185G |
probably damaging |
Het |
| Lrtm1 |
T |
C |
14: 28,744,179 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
T |
G |
18: 57,395,172 (GRCm39) |
D511E |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,173,478 (GRCm39) |
|
probably null |
Het |
| Nrbf2 |
G |
A |
10: 67,103,605 (GRCm39) |
T166M |
probably damaging |
Het |
| Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
| Ola1 |
A |
G |
2: 72,924,056 (GRCm39) |
Y368H |
probably damaging |
Het |
| Or52s1 |
A |
C |
7: 102,861,787 (GRCm39) |
H229P |
possibly damaging |
Het |
| Or9i1b |
A |
G |
19: 13,897,145 (GRCm39) |
T254A |
probably benign |
Het |
| Or9q2 |
T |
C |
19: 13,772,026 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,921,500 (GRCm39) |
L125P |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,590,625 (GRCm39) |
|
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,556,648 (GRCm39) |
|
probably benign |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,339 (GRCm39) |
Y481H |
probably benign |
Het |
| Ppp4c |
A |
G |
7: 126,388,254 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,533 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
C |
A |
15: 99,202,352 (GRCm39) |
A70E |
unknown |
Het |
| Ptgfr |
G |
A |
3: 151,540,839 (GRCm39) |
T223M |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,017,223 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,140,018 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,371,313 (GRCm39) |
E344G |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,061 (GRCm39) |
I383N |
possibly damaging |
Het |
| Sgms2 |
T |
A |
3: 131,118,756 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
C |
A |
3: 135,103,516 (GRCm39) |
Q549K |
probably benign |
Het |
| Smc4 |
G |
C |
3: 68,916,871 (GRCm39) |
A187P |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,062 (GRCm39) |
S47G |
probably damaging |
Het |
| Sobp |
T |
A |
10: 42,898,385 (GRCm39) |
E400V |
probably damaging |
Het |
| Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
| Stil |
T |
A |
4: 114,881,620 (GRCm39) |
|
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,658,044 (GRCm39) |
M23K |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tcof1 |
C |
A |
18: 60,966,605 (GRCm39) |
G329W |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Vmn1r171 |
G |
T |
7: 23,332,602 (GRCm39) |
V276L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,422,514 (GRCm39) |
L158P |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,256,434 (GRCm39) |
I634M |
possibly damaging |
Het |
| Vwa8 |
T |
G |
14: 79,258,060 (GRCm39) |
S736R |
probably benign |
Het |
|
| Other mutations in Cap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01449:Cap1
|
APN |
4 |
122,753,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02163:Cap1
|
APN |
4 |
122,756,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
Twotones
|
UTSW |
4 |
122,761,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
wingtips
|
UTSW |
4 |
122,761,516 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0115:Cap1
|
UTSW |
4 |
122,756,868 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0119:Cap1
|
UTSW |
4 |
122,761,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Cap1
|
UTSW |
4 |
122,756,868 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0534:Cap1
|
UTSW |
4 |
122,756,512 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0846:Cap1
|
UTSW |
4 |
122,756,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1311:Cap1
|
UTSW |
4 |
122,759,007 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2027:Cap1
|
UTSW |
4 |
122,756,686 (GRCm39) |
unclassified |
probably benign |
|
|
R2446:Cap1
|
UTSW |
4 |
122,758,401 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2860:Cap1
|
UTSW |
4 |
122,758,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2861:Cap1
|
UTSW |
4 |
122,758,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2862:Cap1
|
UTSW |
4 |
122,758,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3690:Cap1
|
UTSW |
4 |
122,758,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3691:Cap1
|
UTSW |
4 |
122,758,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4089:Cap1
|
UTSW |
4 |
122,756,202 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4362:Cap1
|
UTSW |
4 |
122,756,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5511:Cap1
|
UTSW |
4 |
122,756,583 (GRCm39) |
unclassified |
probably benign |
|
|
R6252:Cap1
|
UTSW |
4 |
122,766,193 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7001:Cap1
|
UTSW |
4 |
122,758,408 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7709:Cap1
|
UTSW |
4 |
122,756,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Cap1
|
UTSW |
4 |
122,761,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9121:Cap1
|
UTSW |
4 |
122,761,516 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9281:Cap1
|
UTSW |
4 |
122,766,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9563:Cap1
|
UTSW |
4 |
122,758,505 (GRCm39) |
missense |
probably benign |
|
|
R9565:Cap1
|
UTSW |
4 |
122,758,505 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTACATTAGTCTGGGAGGTGAGC -3'
(R):5'- GTGATGTCCTACTGTAGACGGGGAG -3'
Sequencing Primer
(F):5'- GCTCCAAAGAAGAAAGTTCACCAG -3'
(R):5'- gctaaacctcccctcccc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation