Incidental Mutation 'R2862:Cap1'
ID 252916
Institutional Source Beutler Lab
Gene Symbol Cap1
Ensembl Gene ENSMUSG00000028656
Gene Name cyclase associated actin cytoskeleton regulatory protein 1
Synonyms
MMRRC Submission 040452-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R2862 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 122752840-122779849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122758518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 221 (S221T)
Ref Sequence ENSEMBL: ENSMUSP00000101864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069533] [ENSMUST00000106255] [ENSMUST00000106257] [ENSMUST00000128485]
AlphaFold P40124
Predicted Effect probably benign
Transcript: ENSMUST00000069533
AA Change: S221T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: S221T

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 benign
Transcript: ENSMUST00000106255
AA Change: S221T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: S221T

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 benign
Transcript: ENSMUST00000106257
AA Change: S221T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: S221T

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 benign
Transcript: ENSMUST00000128485
SMART Domains Protein: ENSMUSP00000114847
Gene: ENSMUSG00000028656

DomainStartEndE-ValueType
Pfam:CAP_N 4 164 2.3e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150919
Meta Mutation Damage Score 0.0758 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ahi1 T A 10: 20,857,307 (GRCm39) V634E probably damaging Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Aqr A T 2: 113,967,398 (GRCm39) V539D probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
Ccdc121 G A 5: 31,643,255 (GRCm39) probably benign Het
Cdca2 T C 14: 67,935,539 (GRCm39) E392G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Dnah1 C T 14: 31,006,719 (GRCm39) G2199S probably benign Het
Dnhd1 A G 7: 105,361,766 (GRCm39) E3608G probably benign Het
Ears2 A T 7: 121,662,163 (GRCm39) L95Q probably damaging Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gata5 C T 2: 179,976,129 (GRCm39) G12S possibly damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Grap2 A T 15: 80,532,165 (GRCm39) Q260L probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama2 G A 10: 27,298,608 (GRCm39) Q163* probably null Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lamp5 A T 2: 135,900,866 (GRCm39) H22L probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Mrps18b G A 17: 36,221,746 (GRCm39) S101L probably benign Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Noc2l A G 4: 156,321,907 (GRCm39) D102G probably benign Het
Ntn1 T C 11: 68,276,690 (GRCm39) E86G probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4c109 A T 2: 88,817,664 (GRCm39) I294K probably benign Het
Or52n1 A G 7: 104,383,425 (GRCm39) F49L probably benign Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Pate3 T A 9: 35,559,415 (GRCm39) M1L possibly damaging Het
Pex2 A G 3: 5,626,240 (GRCm39) Y190H probably damaging Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Rreb1 G C 13: 38,116,429 (GRCm39) A1263P probably benign Het
Rxfp1 A G 3: 79,589,778 (GRCm39) V121A possibly damaging Het
Slc35e4 A T 11: 3,862,796 (GRCm39) V131D probably damaging Het
Smyd4 T A 11: 75,280,962 (GRCm39) M145K probably benign Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Srgap3 A T 6: 112,699,933 (GRCm39) F1015Y probably damaging Het
Synj1 T C 16: 90,766,217 (GRCm39) Y567C probably damaging Het
Tbc1d8 G A 1: 39,441,777 (GRCm39) Q272* probably null Het
Tinf2 T C 14: 55,918,088 (GRCm39) D127G probably damaging Het
Ube2v1 G A 2: 167,459,885 (GRCm39) P39L probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Zc3h6 A G 2: 128,857,380 (GRCm39) H633R 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
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
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
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'- GCTTTAACAACTGCCCATGC -3'
(R):5'- GGAGACTTAAATCACCAAGGCC -3'

Sequencing Primer
(F):5'- TGCCAAAATACTCACCATGTGTG -3'
(R):5'- GATGGTCCAGCATTTAAGAGCTC -3'
Posted On 2014-12-04