Incidental Mutation 'R7661:Capza3'
ID 591565
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 045736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7661 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 139987283-139988563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 139987498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 32 (D32E)
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: D32E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
AA Change: D32E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik A T 12: 107,455,215 (GRCm39) K100N unknown Het
Abi3bp T A 16: 56,453,263 (GRCm39) probably null Het
Akr1c20 T C 13: 4,558,218 (GRCm39) D210G probably benign Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Ascc1 A C 10: 59,885,629 (GRCm39) N227H probably damaging Het
Atp5f1a G T 18: 77,861,802 (GRCm39) A18S possibly damaging Het
Bcl2l13 A G 6: 120,842,558 (GRCm39) T84A possibly damaging Het
Blmh T A 11: 76,877,341 (GRCm39) V419D probably damaging Het
Cacna1d G A 14: 29,769,177 (GRCm39) P1918S probably benign Het
Calr4 T C 4: 109,110,951 (GRCm39) V339A probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cldn20 T A 17: 3,583,133 (GRCm39) M102K possibly damaging Het
Dennd1a T C 2: 37,734,841 (GRCm39) Q479R probably benign Het
Dpp10 A T 1: 123,312,681 (GRCm39) I432N probably damaging Het
Dst T A 1: 34,295,434 (GRCm39) probably null Het
Efcab3 T A 11: 104,617,503 (GRCm39) D741E probably benign Het
Fam135a C T 1: 24,111,843 (GRCm39) probably null Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Focad G A 4: 88,221,772 (GRCm39) R714H unknown Het
Hace1 T G 10: 45,481,649 (GRCm39) V124G probably damaging Het
Ifit1bl2 T A 19: 34,596,428 (GRCm39) Y396F probably damaging Het
Il22ra2 A G 10: 19,497,826 (GRCm39) I13M probably benign Het
Kif21a A G 15: 90,865,122 (GRCm39) F517L possibly damaging Het
Lrrc4 T C 6: 28,829,762 (GRCm39) T618A probably benign Het
Mdn1 A G 4: 32,691,229 (GRCm39) T952A probably benign Het
Mindy3 A T 2: 12,402,328 (GRCm39) I208K probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 A G 14: 103,450,059 (GRCm39) I1744T probably damaging Het
Nanog A T 6: 122,690,431 (GRCm39) R279W probably damaging Het
Ncoa2 T A 1: 13,244,761 (GRCm39) T646S probably damaging Het
Ndufa5 A G 6: 24,518,724 (GRCm39) *117R probably null Het
Nudt18 A T 14: 70,817,276 (GRCm39) E293D probably benign Het
Or1e22 A G 11: 73,377,426 (GRCm39) S75P probably damaging Het
Or51aa2 A T 7: 103,187,826 (GRCm39) V205E probably damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Pih1d2 T C 9: 50,529,558 (GRCm39) probably null Het
Ppp2r3d A G 9: 124,442,696 (GRCm38) F17L Het
Ptprk T C 10: 28,342,036 (GRCm39) I481T probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Raet1d T C 10: 22,248,156 (GRCm39) S225P possibly damaging Het
Rnf24 T C 2: 131,164,135 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,687 (GRCm39) S687G probably damaging Het
Rsph9 A G 17: 46,446,013 (GRCm39) S186P probably damaging Het
Sash1 C T 10: 8,605,155 (GRCm39) M1078I probably benign Het
Scd4 C A 19: 44,327,510 (GRCm39) D195E probably benign Het
Spopfm3 C T 3: 94,105,709 (GRCm39) T9I probably damaging Het
Syn3 A G 10: 85,904,940 (GRCm39) C348R probably damaging Het
Uspl1 T C 5: 149,151,827 (GRCm39) F1009S probably benign Het
Vmn1r2 T A 4: 3,172,149 (GRCm39) F23I probably benign Het
Vmn1r257 A G 7: 22,391,229 (GRCm39) S172P probably benign Het
Vmn2r-ps158 T A 7: 42,672,582 (GRCm39) N72K probably benign Het
Zfp747l1 A T 7: 126,984,135 (GRCm39) C322* probably null Het
Zfp839 C T 12: 110,835,226 (GRCm39) T827I 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
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
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'- CTTGAATGGGCAAGGTATCCC -3'
(R):5'- TGGATATCCCTCAGTTGATTCTGG -3'

Sequencing Primer
(F):5'- AAGGTATCCCATGGACCGTTTTC -3'
(R):5'- CAGTTGATTCTGGAGTAGGTCAAACC -3'
Posted On 2019-11-12