Incidental Mutation 'R4395:Capza2'
ID 325434
Institutional Source Beutler Lab
Gene Symbol Capza2
Ensembl Gene ENSMUSG00000015733
Gene Name capping actin protein of muscle Z-line subunit alpha 2
Synonyms 1110053K06Rik, Cappa2
MMRRC Submission 041684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R4395 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 17637009-17666971 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 17656449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015877] [ENSMUST00000130606] [ENSMUST00000152005] [ENSMUST00000152005]
AlphaFold P47754
Predicted Effect probably null
Transcript: ENSMUST00000015877
SMART Domains Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 282 3.2e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130606
SMART Domains Protein: ENSMUSP00000123398
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 12 173 1.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148694
Predicted Effect probably null
Transcript: ENSMUST00000152005
SMART Domains Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 145 2.1e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152005
SMART Domains Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 145 2.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156701
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 A G 4: 49,447,679 (GRCm39) Y283H probably benign Het
Adamtsl5 A G 10: 80,180,736 (GRCm39) C109R probably damaging Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Alpk3 C T 7: 80,744,703 (GRCm39) S1266F probably damaging Het
Arfgef3 A G 10: 18,473,457 (GRCm39) L1614P probably damaging Het
Atm T C 9: 53,376,527 (GRCm39) R2038G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cfap43 T C 19: 47,740,352 (GRCm39) T1274A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cisd3 A G 11: 97,579,212 (GRCm39) Y115C probably damaging Het
Crebl2 A G 6: 134,826,208 (GRCm39) E53G probably damaging Het
Ech1 T C 7: 28,525,671 (GRCm39) S107P probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Grm8 T A 6: 27,429,431 (GRCm39) I488F probably damaging Het
Hmga2 C T 10: 120,311,956 (GRCm39) G5S probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Ifit3b G T 19: 34,589,951 (GRCm39) E376* probably null Het
Ints5 A G 19: 8,873,808 (GRCm39) E589G probably damaging Het
Iqsec2 C T X: 150,992,049 (GRCm39) T562I probably damaging Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Ltv1 T C 10: 13,066,323 (GRCm39) Y101C probably benign Het
Maf1 T C 15: 76,236,357 (GRCm39) probably benign Het
Map3k13 A T 16: 21,717,321 (GRCm39) K185N possibly damaging Het
Mtcl3 T C 10: 29,023,351 (GRCm39) S233P probably benign Het
Mtus2 A T 5: 148,013,432 (GRCm39) Q75L probably benign Het
Nod2 T A 8: 89,391,019 (GRCm39) F427Y probably damaging Het
Or1s2 A T 19: 13,758,275 (GRCm39) I100F probably benign Het
Or5p51 A G 7: 107,444,469 (GRCm39) L157P probably damaging Het
Pik3cg T C 12: 32,254,091 (GRCm39) D632G probably damaging Het
Plekhs1 A G 19: 56,468,326 (GRCm39) D298G probably benign Het
Rbm34 T C 8: 127,676,131 (GRCm39) T375A probably benign Het
Slc4a7 C T 14: 14,765,665 (GRCm38) T549I probably damaging Het
Slco1a7 T C 6: 141,657,844 (GRCm39) I565V probably benign Het
Stk17b A G 1: 53,803,274 (GRCm39) I47T probably damaging Het
Tenm2 C T 11: 35,915,451 (GRCm39) V2028I probably benign Het
Tle4 A T 19: 14,495,302 (GRCm39) H142Q probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Trpm2 T C 10: 77,765,053 (GRCm39) I983V probably benign Het
Ttll8 C T 15: 88,799,783 (GRCm39) A553T possibly damaging Het
Ubxn11 G T 4: 133,843,431 (GRCm39) E171D possibly damaging Het
Other mutations in Capza2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Capza2 APN 6 17,654,122 (GRCm39) missense probably damaging 1.00
IGL01330:Capza2 APN 6 17,654,170 (GRCm39) critical splice donor site probably null
IGL02692:Capza2 APN 6 17,654,115 (GRCm39) nonsense probably null
R0086:Capza2 UTSW 6 17,660,773 (GRCm39) missense probably damaging 1.00
R0302:Capza2 UTSW 6 17,648,523 (GRCm39) missense probably benign 0.01
R0331:Capza2 UTSW 6 17,665,102 (GRCm39) missense probably benign 0.09
R1466:Capza2 UTSW 6 17,657,158 (GRCm39) intron probably benign
R2036:Capza2 UTSW 6 17,660,777 (GRCm39) missense probably damaging 1.00
R4978:Capza2 UTSW 6 17,662,114 (GRCm39) missense probably null 0.69
R5653:Capza2 UTSW 6 17,654,112 (GRCm39) missense probably damaging 1.00
R5734:Capza2 UTSW 6 17,660,764 (GRCm39) missense probably damaging 1.00
R7190:Capza2 UTSW 6 17,654,120 (GRCm39) nonsense probably null
R8175:Capza2 UTSW 6 17,665,381 (GRCm39) missense probably benign 0.35
R8271:Capza2 UTSW 6 17,657,214 (GRCm39) missense probably damaging 0.98
R8306:Capza2 UTSW 6 17,637,131 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGATAACAGAACATGGAGACTTGG -3'
(R):5'- AACCTTCAATCCAGTGTCTGTCTG -3'

Sequencing Primer
(F):5'- GGGAAATGGAAAATTTTTGGATCC -3'
(R):5'- CAATCCAGTGTCTGTCTGAATTTAAC -3'
Posted On 2015-07-06