Incidental Mutation 'R7760:Capg'
ID 597786
Institutional Source Beutler Lab
Gene Symbol Capg
Ensembl Gene ENSMUSG00000056737
Gene Name capping actin protein, gelsolin like
Synonyms mbh1, gCap39
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 72521374-72539966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72534769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 199 (R199G)
Ref Sequence ENSEMBL: ENSMUSP00000063389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071044] [ENSMUST00000114071] [ENSMUST00000114072] [ENSMUST00000126101] [ENSMUST00000126124] [ENSMUST00000134809] [ENSMUST00000155188] [ENSMUST00000155705]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071044
AA Change: R199G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: R199G

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
GEL 253 348 5.76e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114071
AA Change: R199G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: R199G

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
GEL 253 348 5.76e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114072
AA Change: R199G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: R199G

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
GEL 253 348 5.76e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126101
AA Change: R199G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: R199G

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126124
SMART Domains Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 193 1.19e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134809
SMART Domains Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737

DomainStartEndE-ValueType
Pfam:Gelsolin 28 90 4.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155188
SMART Domains Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155705
SMART Domains Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737

DomainStartEndE-ValueType
GEL 19 104 1.27e-15 SMART
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Inactivation of this loci results in impaired immune cell motility which manifests in homozygous mutant mice as increased susceptibility to some bacterial infections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging Het
Other mutations in Capg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02529:Capg APN 6 72,532,829 (GRCm39) missense probably benign 0.01
IGL02569:Capg APN 6 72,538,032 (GRCm39) missense probably damaging 1.00
IGL02613:Capg APN 6 72,532,594 (GRCm39) missense probably damaging 0.99
IGL02629:Capg APN 6 72,532,737 (GRCm39) missense probably benign 0.34
IGL02964:Capg APN 6 72,539,827 (GRCm39) missense probably damaging 0.99
R0014:Capg UTSW 6 72,538,026 (GRCm39) missense possibly damaging 0.95
R1937:Capg UTSW 6 72,535,236 (GRCm39) splice site probably null
R2378:Capg UTSW 6 72,532,474 (GRCm39) missense probably benign 0.07
R4284:Capg UTSW 6 72,538,082 (GRCm39) missense probably damaging 1.00
R5043:Capg UTSW 6 72,535,237 (GRCm39) nonsense probably null
R5233:Capg UTSW 6 72,532,509 (GRCm39) missense probably damaging 1.00
R5955:Capg UTSW 6 72,532,483 (GRCm39) missense probably benign 0.21
R6486:Capg UTSW 6 72,534,733 (GRCm39) nonsense probably null
R6792:Capg UTSW 6 72,532,537 (GRCm39) missense possibly damaging 0.54
R8241:Capg UTSW 6 72,533,236 (GRCm39) critical splice donor site probably null
R9242:Capg UTSW 6 72,532,869 (GRCm39) missense probably damaging 1.00
R9243:Capg UTSW 6 72,538,070 (GRCm39) missense probably benign
Z1176:Capg UTSW 6 72,532,459 (GRCm39) critical splice acceptor site probably null
Z1177:Capg UTSW 6 72,533,213 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTGATGCAGAGACAGCAC -3'
(R):5'- TGAGTAGGAACCCAGATACCCC -3'

Sequencing Primer
(F):5'- ATTGCATCCCCTGAAAGTGG -3'
(R):5'- ACCCCTGCCAATCCTCTG -3'
Posted On 2019-11-26