Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Capzb'

587199

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

045712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138920210-139019129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138989334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 85 (D85E)

Ref Sequence

ENSEMBL: ENSMUSP00000114973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030518] [ENSMUST00000042675] [ENSMUST00000102507] [ENSMUST00000102508] [ENSMUST00000131912] [ENSMUST00000138045] [ENSMUST00000145368]

AlphaFold

P47757

Predicted Effect

probably benign
Transcript: ENSMUST00000030518
AA Change: D114E

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745
AA Change: D114E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	35	269	6.2e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042675
AA Change: D73E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745
AA Change: D73E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	1	228	4.7e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102507
AA Change: D85E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745
AA Change: D85E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	6	240	4.6e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102508
AA Change: D85E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745
AA Change: D85E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	5	240	6.8e-115	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131912
AA Change: D85E

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114973
Gene: ENSMUSG00000028745
AA Change: D85E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	5	113	1.5e-53	PFAM
low complexity region	115	126	N/A	INTRINSIC
Pfam:F_actin_cap_B	143	188	4.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138045
AA Change: D73E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745
AA Change: D73E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	1	204	9.8e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145368
AA Change: D85E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119252
Gene: ENSMUSG00000028745
AA Change: D85E

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	6	110	2.2e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150077

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	Het

Other mutations in Capzb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0729:Capzb	UTSW	4	139,016,288 (GRCm39)	unclassified	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
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'- TGTATTAGTCAGTCTGCCGGC -3'
(R):5'- AGGGAGCTCCAACTTTTAGCAAG -3'

Sequencing Primer
(F):5'- AGTCTGCCGGCTTCTGAAC -3'
(R):5'- GAGCTCCAACTTTTAGCAAGCTAGG -3'

Posted On

2019-10-24