Incidental Mutation 'R5504:Capza3'
ID 430823
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 043065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5504 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 139987283-139988563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139988165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 255 (I255L)
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: I255L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
AA Change: I255L

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C T 8: 44,078,319 (GRCm39) C635Y probably damaging Het
Akr1b7 A G 6: 34,396,453 (GRCm39) probably null Het
Amy2a1 T G 3: 113,325,318 (GRCm39) D92A probably benign Het
Angel2 A G 1: 190,676,083 (GRCm39) T455A probably damaging Het
Angptl2 T C 2: 33,119,050 (GRCm39) probably benign Het
Ankrd40 A G 11: 94,219,153 (GRCm39) E25G probably benign Het
Asb18 T A 1: 89,920,746 (GRCm39) D136V probably damaging Het
Asphd1 T C 7: 126,545,350 (GRCm39) I336V possibly damaging Het
Birc6 C T 17: 74,962,208 (GRCm39) P58S probably damaging Het
Bsx A T 9: 40,785,460 (GRCm39) probably benign Het
Cabin1 A G 10: 75,488,843 (GRCm39) L1965P probably benign Het
Ccdc185 G T 1: 182,575,192 (GRCm39) A499E probably damaging Het
Cfhr4 A T 1: 139,629,558 (GRCm39) S749T probably benign Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Colgalt2 G A 1: 152,276,054 (GRCm39) V56M possibly damaging Het
Dennd1b A T 1: 139,018,246 (GRCm39) T197S probably benign Het
Dhx30 A G 9: 109,914,278 (GRCm39) Y1000H probably benign Het
Dlg2 C T 7: 92,091,865 (GRCm39) A910V probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dock5 T C 14: 68,040,535 (GRCm39) D884G probably benign Het
Fhad1 A G 4: 141,712,846 (GRCm39) S198P probably benign Het
Gabpa T C 16: 84,649,446 (GRCm39) S218P probably benign Het
Gm17654 A T 14: 43,815,494 (GRCm39) N104K unknown Het
Gm4775 T C 14: 106,338,389 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,951 (GRCm39) noncoding transcript Het
Heatr1 T A 13: 12,421,500 (GRCm39) S467T possibly damaging Het
Hecw1 A G 13: 14,515,487 (GRCm39) M215T probably benign Het
Hmgn2 A T 4: 133,694,114 (GRCm39) probably benign Het
Kncn T A 4: 115,742,062 (GRCm39) I43N possibly damaging Het
Lgals3bp G T 11: 118,284,811 (GRCm39) T256N probably benign Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Myom2 G A 8: 15,178,879 (GRCm39) E1304K probably damaging Het
Npat T A 9: 53,481,564 (GRCm39) F1091I probably benign Het
Nrcam T G 12: 44,610,915 (GRCm39) probably null Het
Or2a7 T A 6: 43,151,572 (GRCm39) Y217* probably null Het
Or4c114 C T 2: 88,905,024 (GRCm39) R137Q probably benign Het
Or56a4 T C 7: 104,806,383 (GRCm39) K169E probably benign Het
Pappa2 A G 1: 158,675,615 (GRCm39) S1044P probably benign Het
Pcnx4 T C 12: 72,621,222 (GRCm39) L1014S probably damaging Het
Pear1 G A 3: 87,660,002 (GRCm39) probably benign Het
Piwil2 T A 14: 70,627,348 (GRCm39) Y797F probably benign Het
Ppp2r1b T G 9: 50,770,187 (GRCm39) L81R probably damaging Het
Pxdn C A 12: 30,052,800 (GRCm39) H812Q probably damaging Het
Rad21l A T 2: 151,510,357 (GRCm39) F33I probably damaging Het
Rgs13 A T 1: 144,015,358 (GRCm39) C120S possibly damaging Het
Rp1 G A 1: 4,420,113 (GRCm39) T333M probably damaging Het
Sema6d T A 2: 124,499,941 (GRCm39) V339E probably damaging Het
Serpina3i T A 12: 104,232,862 (GRCm39) Y256N probably damaging Het
Slc13a1 A T 6: 24,150,743 (GRCm39) M65K possibly damaging Het
Slco6d1 A G 1: 98,349,064 (GRCm39) K45R probably damaging Het
Src T C 2: 157,306,641 (GRCm39) Y215H probably damaging Het
Synj2 T C 17: 6,086,750 (GRCm39) V384A possibly damaging Het
Tmeff1 T C 4: 48,650,396 (GRCm39) S285P probably damaging Het
Vmn2r125 A G 4: 156,703,456 (GRCm39) D278G possibly damaging Het
Vmn2r45 T C 7: 8,486,176 (GRCm39) K371E probably benign Het
Zfp866 A T 8: 70,218,341 (GRCm39) H426Q probably benign 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
R4272:Capza3 UTSW 6 139,988,264 (GRCm39) missense probably benign 0.33
R4278:Capza3 UTSW 6 139,987,786 (GRCm39) nonsense probably null
R4421:Capza3 UTSW 6 139,987,768 (GRCm39) missense probably benign
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'- TCTAACCCAAGTCACAGGGAG -3'
(R):5'- AAAACACTTTAGCTTGAGCCG -3'

Sequencing Primer
(F):5'- CCCAAGTCACAGGGAGAATTTTTGTG -3'
(R):5'- CTTTAGCTTGAGCCGATAACCAGG -3'
Posted On 2016-10-05