Incidental Mutation 'R4272:Capza3'
ID 322220
Institutional Source Beutler Lab
Gene Symbol Capza3
Ensembl Gene ENSMUSG00000041791
Gene Name capping actin protein of muscle Z-line subunit alpha 3
Synonyms Tex8, repro32, cp alpha3, Gsg3, Cappa3, 510-4
MMRRC Submission 041644-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4272 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139987283-139988563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139988264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 288 (I288V)
Ref Sequence ENSEMBL: ENSMUSP00000038562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000043797] [ENSMUST00000129986] [ENSMUST00000137148] [ENSMUST00000149931]
AlphaFold P70190
Predicted Effect probably benign
Transcript: ENSMUST00000032356
SMART Domains Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230

DomainStartEndE-ValueType
Pfam:EF-hand_like 80 162 9.6e-26 PFAM
PLCXc 163 307 5.17e-72 SMART
low complexity region 374 385 N/A INTRINSIC
PLCYc 386 502 1.52e-51 SMART
C2 521 625 2.06e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043797
AA Change: I288V

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
AA Change: I288V

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 12 278 7.3e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129986
Predicted Effect probably benign
Transcript: ENSMUST00000137148
Predicted Effect probably benign
Transcript: ENSMUST00000149931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204342
Meta Mutation Damage Score 0.0613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for an ENU-induced mutation are infertile, exhibit low epididymal sperm concentrations, and produce sperm with abnormally shaped heads and poor motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T A 17: 43,021,013 (GRCm39) T604S probably damaging Het
Ago3 T A 4: 126,248,884 (GRCm39) T556S possibly damaging Het
Arap2 T C 5: 62,828,322 (GRCm39) I950V possibly damaging Het
Arl5b A G 2: 15,077,990 (GRCm39) E105G probably damaging Het
Chka G A 19: 3,925,737 (GRCm39) probably benign Het
Cnpy4 G T 5: 138,190,853 (GRCm39) V159F probably damaging Het
Crb1 T C 1: 139,251,049 (GRCm39) I301V probably benign Het
Disp1 T A 1: 182,869,208 (GRCm39) I1071F possibly damaging Het
Dlec1 C T 9: 118,972,231 (GRCm39) A1417V probably damaging Het
Dlgap1 T A 17: 71,073,038 (GRCm39) S686T probably benign Het
Dync1li2 A G 8: 105,149,775 (GRCm39) S411P probably damaging Het
Efnb2 T A 8: 8,670,698 (GRCm39) S301C probably damaging Het
Enpp4 T C 17: 44,412,698 (GRCm39) N279D probably benign Het
Exoc3 A G 13: 74,340,763 (GRCm39) V347A probably damaging Het
Ezh1 A G 11: 101,085,734 (GRCm39) F641S probably damaging Het
Gcgr T A 11: 120,429,250 (GRCm39) probably benign Het
Gm4887 G T 7: 104,470,535 (GRCm39) noncoding transcript Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Htt G A 5: 35,006,413 (GRCm39) V1441I possibly damaging Het
Ift70a1 A G 2: 75,810,818 (GRCm39) Y422H probably damaging Het
Lmtk2 A G 5: 144,120,044 (GRCm39) M1398V probably benign Het
Lrrc15 T C 16: 30,092,673 (GRCm39) N222S probably benign Het
Mctp2 A T 7: 71,909,079 (GRCm39) V78E possibly damaging Het
Medag A G 5: 149,345,628 (GRCm39) Y103C probably damaging Het
Mphosph9 G A 5: 124,442,266 (GRCm39) P361S probably damaging Het
Npffr2 G A 5: 89,715,882 (GRCm39) V70M probably damaging Het
Obox3-ps8 A C 17: 36,763,909 (GRCm39) noncoding transcript Het
Or4c117 A G 2: 88,955,706 (GRCm39) V123A probably damaging Het
Pdgfra G A 5: 75,343,731 (GRCm39) V751I probably benign Het
Phykpl T C 11: 51,476,355 (GRCm39) L25P probably damaging Het
Rgl1 A T 1: 152,412,040 (GRCm39) I443N probably benign Het
Riok3 AGAAGCGG AG 18: 12,268,998 (GRCm39) probably benign Het
Rragd T C 4: 32,996,099 (GRCm39) probably null Het
Rtcb A T 10: 85,793,483 (GRCm39) M30K probably damaging Het
Rusc2 T A 4: 43,415,533 (GRCm39) C280S probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Skp2 C A 15: 9,116,947 (GRCm39) probably null Het
Slc52a3 T A 2: 151,847,660 (GRCm39) I256N possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Tas1r1 T C 4: 152,116,614 (GRCm39) E340G possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Trhr G A 15: 44,060,620 (GRCm39) V47I probably damaging Het
Trpm2 A T 10: 77,769,476 (GRCm39) N749K probably damaging Het
Ttc27 T A 17: 75,147,355 (GRCm39) W636R probably damaging Het
Ttn C A 2: 76,608,691 (GRCm39) R17775L probably damaging Het
Vmn2r55 A G 7: 12,402,106 (GRCm39) F394S probably benign Het
Zfp52 C A 17: 21,780,459 (GRCm39) Y102* probably null Het
Zyx A G 6: 42,327,880 (GRCm39) D70G probably damaging Het
Other mutations in Capza3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Capza3 APN 6 139,987,872 (GRCm39) missense probably benign
IGL02228:Capza3 APN 6 139,987,641 (GRCm39) missense probably benign
R1953:Capza3 UTSW 6 139,988,294 (GRCm39) missense possibly damaging 0.59
R4278:Capza3 UTSW 6 139,987,786 (GRCm39) nonsense probably null
R4421:Capza3 UTSW 6 139,987,768 (GRCm39) missense probably benign
R5504:Capza3 UTSW 6 139,988,165 (GRCm39) missense probably benign 0.42
R7070:Capza3 UTSW 6 139,987,646 (GRCm39) missense probably damaging 1.00
R7661:Capza3 UTSW 6 139,987,498 (GRCm39) missense probably benign 0.07
R8881:Capza3 UTSW 6 139,987,521 (GRCm39) missense probably damaging 1.00
R9595:Capza3 UTSW 6 139,987,712 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCAGTTTCGCAAGGCTTGTG -3'
(R):5'- TGGTGAATACTGACTGTATAACACG -3'

Sequencing Primer
(F):5'- TTTCGCAAGGCTTGTGGAAGAAC -3'
(R):5'- ATAACACGATTTCTTATTCTTCCCC -3'
Posted On 2015-06-20