Incidental Mutation 'R0086:Capza2'
ID 19891
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 038373-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # R0086 (G1)
Quality Score 109
Status Validated
Chromosome 6
Chromosomal Location 17637009-17666971 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17660773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 158 (K158E)
Ref Sequence ENSEMBL: ENSMUSP00000145159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015877] [ENSMUST00000130606] [ENSMUST00000152005]
AlphaFold P47754
Predicted Effect probably benign
Transcript: ENSMUST00000015877
AA Change: K178E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733
AA Change: K178E

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 damaging
Transcript: ENSMUST00000152005
AA Change: K158E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733
AA Change: K158E

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 145 2.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156701
Meta Mutation Damage Score 0.1225 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably 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
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
R4395:Capza2 UTSW 6 17,656,449 (GRCm39) splice site probably null
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'- gtctcaGGGGTGTCTGTGTTGGGAA -3'
(R):5'- GACCAAATGGCAGCATCTAATTTTAGCTCTAC -3'

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