Incidental Mutation 'R0119:Cap1'
ID 20965
Institutional Source Beutler Lab
Gene Symbol Cap1
Ensembl Gene ENSMUSG00000028656
Gene Name cyclase associated actin cytoskeleton regulatory protein 1
Synonyms
MMRRC Submission 038405-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R0119 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 122752840-122779849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122761492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 130 (L130Q)
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: L130Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: L130Q

DomainStartEndE-ValueType
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: L130Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: L130Q

DomainStartEndE-ValueType
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: L130Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: L130Q

DomainStartEndE-ValueType
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: L130Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114847
Gene: ENSMUSG00000028656
AA Change: L130Q

DomainStartEndE-ValueType
Pfam:CAP_N 4 164 2.3e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151041
Meta Mutation Damage Score 0.9514 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency 99% (68/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adamts18 A G 8: 114,501,585 (GRCm39) I346T possibly damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap3d1 A G 10: 80,559,449 (GRCm39) probably benign Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Caskin2 A G 11: 115,693,253 (GRCm39) probably benign Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Cd96 T C 16: 45,858,942 (GRCm39) probably benign Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1c A T 8: 93,833,345 (GRCm39) probably benign Het
Ces1c A T 8: 93,834,238 (GRCm39) L351M probably benign Het
Cnih3 T A 1: 181,282,309 (GRCm39) probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Cry1 A G 10: 84,969,104 (GRCm39) probably null Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Elmo3 T C 8: 106,036,400 (GRCm39) L668S probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Gm839 A T 6: 89,189,362 (GRCm39) noncoding transcript Het
Gng5 T A 3: 146,209,048 (GRCm39) C39S probably damaging Het
Gpr55 C T 1: 85,869,146 (GRCm39) W145* probably null Het
Hdlbp A C 1: 93,349,059 (GRCm39) probably benign Het
Man2a2 G T 7: 80,017,153 (GRCm39) N305K probably damaging Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mier3 T C 13: 111,851,572 (GRCm39) V490A probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Mug2 T A 6: 122,013,022 (GRCm39) H311Q probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Obox3 T A 7: 15,360,252 (GRCm39) probably null Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Pcdh15 T C 10: 74,006,407 (GRCm39) F95S probably damaging Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Per3 A G 4: 151,109,005 (GRCm39) probably benign Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Rere T G 4: 150,699,779 (GRCm39) probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Sh3bgrl3 A T 4: 133,855,347 (GRCm39) I33N probably damaging Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Tacc2 C A 7: 130,223,605 (GRCm39) Q116K probably damaging Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tnpo3 A G 6: 29,568,921 (GRCm39) V477A possibly damaging Het
Trim7 G T 11: 48,740,539 (GRCm39) R212L probably damaging Het
Trpm6 T A 19: 18,809,957 (GRCm39) C1118S probably benign Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Zbtb18 A G 1: 177,275,723 (GRCm39) E361G probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Cap1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R0602:Cap1 UTSW 4 122,766,202 (GRCm39) missense probably damaging 1.00
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'- TTCATCTCTTTCACAAAGGGGCCAG -3'
(R):5'- GGGGAATCACTTGCCTTCAGAGTC -3'

Sequencing Primer
(F):5'- AGGTTTCGCAGCCTGTAGAG -3'
(R):5'- aaagggggagtgggtgg -3'
Posted On 2013-04-11