Incidental Mutation 'R0729:Capzb'
ID 67370
Institutional Source Beutler Lab
Gene Symbol Capzb
Ensembl Gene ENSMUSG00000028745
Gene Name capping actin protein of muscle Z-line subunit beta
Synonyms CPB2, Cappb1, CPbeta1, CPB1, CPbeta2, 1700120C01Rik
MMRRC Submission 038910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0729 (G1)
Quality Score 182
Status Validated
Chromosome 4
Chromosomal Location 138920210-139019129 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 139016288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030518] [ENSMUST00000042675] [ENSMUST00000102507] [ENSMUST00000102508] [ENSMUST00000138045]
AlphaFold P47757
Predicted Effect probably benign
Transcript: ENSMUST00000030518
SMART Domains Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 35 269 6.2e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042675
SMART Domains Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 1 228 4.7e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102507
SMART Domains Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 6 240 4.6e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102508
SMART Domains Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 5 240 6.8e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132385
Predicted Effect probably benign
Transcript: ENSMUST00000138045
SMART Domains Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 1 204 9.8e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150077
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: This gene encodes the beta subunit of a highly conserved filamentous actin capping protein that binds the barbed end of filamentous actin to stabilize it and terminate elongation. Interaction of this protein with the barbed end of the actin filament occurs through binding of the amphipathic helix at the C-terminus to the hydrophobic cleft on the actin molecule. This gene is required for a variety of dynamic actin-mediated processes including organization of lamellipodia and filopodia, growth cone morphology and neurite outgrowth in hippocampal neurons, and asymmetric spindle migration and polar body extrusion during oocyte maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in the ear exhibit increased ABR threshold, absent DPOE, reduced vestibular function, head shaking and abnormal stereocilia length and width in the cochlea and utricle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,050,281 (GRCm39) A828S probably benign Het
Acsm3 T C 7: 119,383,207 (GRCm39) probably benign Het
Adamts12 G A 15: 11,255,769 (GRCm39) R446H possibly damaging Het
Adgrb1 A G 15: 74,420,398 (GRCm39) N849S probably damaging Het
Ankra2 A G 13: 98,408,235 (GRCm39) D228G probably damaging Het
Bicd1 T C 6: 149,414,412 (GRCm39) V375A probably damaging Het
Blvrb A G 7: 27,147,555 (GRCm39) K5E possibly damaging Het
Cacna2d2 A G 9: 107,394,456 (GRCm39) N573D probably benign Het
Calhm2 C A 19: 47,121,356 (GRCm39) G271V possibly damaging Het
Capn13 C T 17: 73,629,064 (GRCm39) G581E probably damaging Het
Casd1 T C 6: 4,619,753 (GRCm39) probably benign Het
Clca4b A G 3: 144,634,111 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crx A G 7: 15,605,058 (GRCm39) probably benign Het
Cyp2c68 T C 19: 39,727,994 (GRCm39) probably benign Het
Dcaf8 T A 1: 172,000,221 (GRCm39) D126E probably benign Het
Ddx31 T C 2: 28,764,186 (GRCm39) I464T probably damaging Het
Dhx32 G A 7: 133,339,150 (GRCm39) T155I probably benign Het
Elac2 C A 11: 64,889,349 (GRCm39) P567T possibly damaging Het
Fat4 A G 3: 39,054,444 (GRCm39) probably benign Het
Fh1 T G 1: 175,442,383 (GRCm39) N156H probably damaging Het
Gm10064 T C 5: 122,835,584 (GRCm39) noncoding transcript Het
Gm14137 A G 2: 119,005,834 (GRCm39) E131G probably benign Het
Gpr22 T A 12: 31,759,312 (GRCm39) K233M probably damaging Het
Gpr63 A G 4: 25,007,480 (GRCm39) N68S probably benign Het
Gypa C T 8: 81,223,421 (GRCm39) P66S unknown Het
Htr2a A T 14: 74,879,587 (GRCm39) Q72L probably benign Het
Klhdc7b C T 15: 89,271,598 (GRCm39) R827* probably null Het
Leo1 G A 9: 75,364,420 (GRCm39) R520Q possibly damaging Het
Lrrc66 T C 5: 73,765,757 (GRCm39) M429V probably benign Het
Lrrc74a C T 12: 86,792,353 (GRCm39) Q225* probably null Het
Mamdc4 T A 2: 25,460,048 (GRCm39) N68Y probably damaging Het
Map3k10 G A 7: 27,360,992 (GRCm39) P507L probably damaging Het
Methig1 T A 15: 100,272,870 (GRCm39) C68S probably benign Het
Metrn C T 17: 26,015,202 (GRCm39) probably benign Het
Mmp12 C T 9: 7,358,290 (GRCm39) T392I possibly damaging Het
Mss51 A T 14: 20,533,160 (GRCm39) I437N probably damaging Het
Mtus2 A G 5: 148,014,097 (GRCm39) T297A probably benign Het
Myo10 T C 15: 25,722,243 (GRCm39) probably benign Het
Ncoa7 G A 10: 30,567,575 (GRCm39) P319S probably benign Het
Nlrp4d A T 7: 10,111,612 (GRCm39) probably benign Het
Obscn A G 11: 58,923,535 (GRCm39) S6455P probably damaging Het
Or5b97 T C 19: 12,878,259 (GRCm39) N295S probably damaging Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Pcdh12 A G 18: 38,415,517 (GRCm39) I536T probably benign Het
Pex5l G T 3: 33,008,685 (GRCm39) probably benign Het
Pla2g2e A C 4: 138,608,046 (GRCm39) K43Q possibly damaging Het
Rasa4 T C 5: 136,130,924 (GRCm39) probably benign Het
Rsf1 C T 7: 97,328,234 (GRCm39) R1079W probably damaging Het
Sez6 A G 11: 77,867,411 (GRCm39) T803A probably benign Het
Shcbp1 T A 8: 4,786,297 (GRCm39) N602Y probably benign Het
Slc16a13 G A 11: 70,109,857 (GRCm39) P215S probably damaging Het
Slc39a6 T C 18: 24,734,527 (GRCm39) Q54R probably benign Het
Smg1 C A 7: 117,745,512 (GRCm39) probably benign Het
Spg7 A G 8: 123,797,156 (GRCm39) N110D probably damaging Het
Sptbn1 A T 11: 30,060,902 (GRCm39) S2010T probably damaging Het
Sun1 T A 5: 139,223,619 (GRCm39) probably benign Het
Sytl5 A G X: 9,860,736 (GRCm39) E717G probably damaging Het
Tle1 A T 4: 72,044,679 (GRCm39) probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Tmem63b A G 17: 45,985,060 (GRCm39) S179P probably damaging Het
Trpm3 T A 19: 22,965,153 (GRCm39) F1549L probably benign Het
Ubr4 A T 4: 139,212,631 (GRCm39) Y5063F possibly damaging Het
Uroc1 T A 6: 90,313,937 (GRCm39) Y75N probably damaging Het
Vmn2r70 T C 7: 85,215,112 (GRCm39) T141A probably benign Het
Vps13c A G 9: 67,868,931 (GRCm39) K3128E probably damaging Het
Wdr26 T C 1: 181,013,470 (GRCm39) probably null Het
Wrn T A 8: 33,738,946 (GRCm39) probably null Het
Zfp106 C T 2: 120,385,729 (GRCm39) V13M probably damaging Het
Zfp456 G A 13: 67,514,663 (GRCm39) H348Y probably damaging Het
Zfpm1 G A 8: 123,063,398 (GRCm39) R819H probably benign Het
Other mutations in Capzb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Capzb APN 4 139,016,258 (GRCm39) missense probably benign 0.00
IGL00885:Capzb APN 4 139,014,361 (GRCm39) missense probably benign 0.00
R0612:Capzb UTSW 4 139,018,340 (GRCm39) missense probably benign
R1547:Capzb UTSW 4 138,989,409 (GRCm39) splice site probably null
R1731:Capzb UTSW 4 139,007,341 (GRCm39) missense probably damaging 1.00
R1748:Capzb UTSW 4 138,984,679 (GRCm39) missense probably damaging 1.00
R2234:Capzb UTSW 4 138,989,334 (GRCm39) missense possibly damaging 0.80
R2424:Capzb UTSW 4 138,921,441 (GRCm39) start codon destroyed probably null 0.01
R4799:Capzb UTSW 4 138,920,310 (GRCm39) utr 5 prime probably benign
R5076:Capzb UTSW 4 139,015,125 (GRCm39) missense possibly damaging 0.85
R5596:Capzb UTSW 4 139,006,738 (GRCm39) intron probably benign
R6200:Capzb UTSW 4 139,007,324 (GRCm39) missense probably benign 0.33
R7587:Capzb UTSW 4 138,989,334 (GRCm39) missense possibly damaging 0.80
R7763:Capzb UTSW 4 139,007,864 (GRCm39) missense probably benign
X0012:Capzb UTSW 4 138,984,602 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ACGAGGAACATCTGAGCCTGTGTG -3'
(R):5'- AACCTGGCTTTTGCCCAGAGTG -3'

Sequencing Primer
(F):5'- TCGGGTGTGAACCCCTAAAG -3'
(R):5'- TTTGCCCAGAGTGCAGAG -3'
Posted On 2013-09-03