Incidental Mutation 'R7190:Capza2'
ID 559544
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 045273-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R7190 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17637009-17666971 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 17654120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 57 (Y57*)
Ref Sequence ENSEMBL: ENSMUSP00000015877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015877] [ENSMUST00000130606] [ENSMUST00000152005]
AlphaFold P47754
Predicted Effect probably null
Transcript: ENSMUST00000015877
AA Change: Y57*
SMART Domains Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733
AA Change: Y57*

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 282 3.2e-109 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130606
AA Change: Y57*
SMART Domains Protein: ENSMUSP00000123398
Gene: ENSMUSG00000015733
AA Change: Y57*

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 12 173 1.3e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152005
AA Change: Y57*
SMART Domains Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733
AA Change: Y57*

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 145 2.1e-42 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Add3 C T 19: 53,205,330 (GRCm39) R27* probably null Het
Armc3 T A 2: 19,297,947 (GRCm39) Y573N probably damaging Het
Bod1l A C 5: 41,977,281 (GRCm39) N1344K probably benign Het
Camta1 T G 4: 151,232,980 (GRCm39) N231T possibly damaging Het
Ccdc168 A C 1: 44,100,775 (GRCm39) S108A probably benign Het
Ccdc186 T A 19: 56,780,432 (GRCm39) I871F probably damaging Het
Cntnap5b A G 1: 100,359,574 (GRCm39) probably null Het
Dnah2 G T 11: 69,439,923 (GRCm39) probably null Het
Fhod3 T C 18: 25,223,812 (GRCm39) F1053L probably damaging Het
Foxj1 A G 11: 116,223,201 (GRCm39) Y201H possibly damaging Het
Gatad2b T A 3: 90,257,722 (GRCm39) I210N probably benign Het
Gba1 T A 3: 89,111,669 (GRCm39) I112N probably damaging Het
Gbp2 T C 3: 142,339,208 (GRCm39) V420A probably benign Het
Golga3 T A 5: 110,357,721 (GRCm39) H1072Q probably damaging Het
Gpr150 C T 13: 76,203,992 (GRCm39) A318T probably benign Het
Gpr6 T C 10: 40,946,956 (GRCm39) N209D probably damaging Het
Grin2b T C 6: 135,709,946 (GRCm39) N1200S possibly damaging Het
Ifi207 G A 1: 173,557,818 (GRCm39) H307Y unknown Het
Il20ra A T 10: 19,618,689 (GRCm39) I46F probably damaging Het
Lvrn A G 18: 47,033,570 (GRCm39) D927G probably benign Het
Nlrc4 G T 17: 74,752,198 (GRCm39) D728E probably damaging Het
Nup107 T C 10: 117,598,040 (GRCm39) D630G probably benign Het
Or1e19 A T 11: 73,315,990 (GRCm39) I273N probably benign Het
Or6c5c T C 10: 129,298,626 (GRCm39) I27T probably benign Het
Pclo C A 5: 14,729,743 (GRCm39) A2867D unknown Het
Perm1 A G 4: 156,304,272 (GRCm39) T754A possibly damaging Het
Plpbp G T 8: 27,541,325 (GRCm39) V162L probably benign Het
Plscr4 A T 9: 92,370,694 (GRCm39) E220D probably benign Het
Ppp2r3d A T 9: 101,089,726 (GRCm39) M199K probably benign Het
Pramel38 T G 5: 94,366,096 (GRCm39) N71K probably benign Het
Rassf6 T C 5: 90,754,666 (GRCm39) E204G probably damaging Het
Reln A C 5: 22,252,945 (GRCm39) D667E probably damaging Het
Rere A G 4: 150,695,410 (GRCm39) I462V unknown Het
Rpain A G 11: 70,862,735 (GRCm39) E76G possibly damaging Het
Strc T G 2: 121,199,507 (GRCm39) I1311L probably benign Het
Svil A G 18: 5,092,937 (GRCm39) M1385V probably benign Het
Syne2 T A 12: 76,113,361 (GRCm39) D1083E probably benign Het
Szt2 T A 4: 118,246,203 (GRCm39) H986L probably damaging Het
Tcl1b2 G T 12: 105,113,493 (GRCm39) probably null Het
Thy1 T A 9: 43,958,222 (GRCm39) S117T possibly damaging Het
Tmem183a A T 1: 134,282,496 (GRCm39) I203N probably damaging Het
Tmprss11g T C 5: 86,644,491 (GRCm39) I118V probably benign Het
Tsen34 T C 7: 3,697,806 (GRCm39) V69A possibly damaging Het
Ttn T C 2: 76,717,143 (GRCm39) Q7506R unknown Het
Vmn1r184 T C 7: 25,967,105 (GRCm39) S284P probably damaging Het
Wdr19 A G 5: 65,398,205 (GRCm39) D810G probably benign Het
Zer1 T C 2: 29,993,444 (GRCm39) D554G probably damaging Het
Zfp626 A T 7: 27,517,768 (GRCm39) T250S probably benign 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
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
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'- GCCATGGCATGTATTTACTGG -3'
(R):5'- AACCACTACACCTGACTTTCTG -3'

Sequencing Primer
(F):5'- ATCATTACTTGGTTTTTAAAACAGCC -3'
(R):5'- ACTACACCTGACTTTCTGATACTAC -3'
Posted On 2019-06-26