Mutagenetix > Incidental Mutation

Incidental Mutation 'R2424:Capzb'

249478

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

040386-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138920210-139019129 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 138921441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000030518 (fasta)

Gene Model

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

AlphaFold

P47757

Predicted Effect

probably null
Transcript: ENSMUST00000030518
AA Change: M1V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745
AA Change: M1V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102507

SMART Domains

Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102508

SMART Domains

Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131793

Predicted Effect

probably benign
Transcript: ENSMUST00000131912

SMART Domains

Protein: ENSMUSP00000114973
Gene: ENSMUSG00000028745

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

noncoding transcript
Transcript: ENSMUST00000150077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156760

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,590,159 (GRCm39)		probably null	Het
Acot3	G	T	12: 84,100,638 (GRCm39)	R138L	probably damaging	Het
Ago3	A	G	4: 126,298,040 (GRCm39)	V160A	probably damaging	Het
Akap9	A	C	5: 4,115,279 (GRCm39)	E166D	probably damaging	Het
Arid5a	T	C	1: 36,357,582 (GRCm39)	Y136H	probably damaging	Het
Ascc3	T	C	10: 50,494,297 (GRCm39)	V244A	probably benign	Het
Atp10a	A	T	7: 58,444,303 (GRCm39)	H560L	probably benign	Het
Btbd6	A	G	12: 112,941,980 (GRCm39)	T482A	probably benign	Het
Cacna1d	A	T	14: 29,770,980 (GRCm39)	Y1828N	probably damaging	Het
Cdh9	T	G	15: 16,850,440 (GRCm39)	F524L	probably damaging	Het
Ctnna1	T	C	18: 35,386,760 (GRCm39)	S846P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dock7	T	A	4: 98,833,544 (GRCm39)	R1886*	probably null	Het
Dpp3	A	T	19: 4,957,735 (GRCm39)	L711*	probably null	Het
Dst	T	A	1: 34,206,141 (GRCm39)	I566N	probably damaging	Het
Eif2b3	T	A	4: 116,928,045 (GRCm39)	S421R	probably benign	Het
Epg5	T	C	18: 78,011,828 (GRCm39)	V825A	probably benign	Het
Eya1	T	A	1: 14,341,072 (GRCm39)		probably benign	Het
Fam187a	T	C	11: 102,776,780 (GRCm39)	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,336,859 (GRCm39)	C132Y	probably damaging	Het
Fbxw21	A	T	9: 108,986,587 (GRCm39)	Y97*	probably null	Het
Grin1	A	T	2: 25,208,664 (GRCm39)	C79S	probably null	Het
Haao	T	A	17: 84,142,991 (GRCm39)	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222 (GRCm39)	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,234,116 (GRCm39)	N66K	probably damaging	Het
Kif21a	T	A	15: 90,855,399 (GRCm39)	N668I	probably damaging	Het
Kprp	A	T	3: 92,732,912 (GRCm39)	L46Q	probably damaging	Het
Lama1	C	T	17: 68,105,660 (GRCm39)	T2056I	probably benign	Het
Madd	G	C	2: 90,996,967 (GRCm39)	D824E	probably damaging	Het
Mapk9	A	G	11: 49,754,499 (GRCm39)	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,527,748 (GRCm39)	V160A	probably benign	Het
Mrpl9	T	C	3: 94,351,113 (GRCm39)	S98P	probably benign	Het
Mybpc3	A	T	2: 90,966,138 (GRCm39)	M1233L	probably benign	Het
Neb	A	G	2: 52,099,671 (GRCm39)		probably benign	Het
Ngly1	A	G	14: 16,290,721 (GRCm38)		probably null	Het
Nt5c1b	A	T	12: 10,420,072 (GRCm39)	T4S	probably damaging	Het
Obscn	T	C	11: 58,885,277 (GRCm39)		probably benign	Het
Or2h2c	T	C	17: 37,422,408 (GRCm39)	I155M	probably benign	Het
Or4k15b	T	C	14: 50,272,281 (GRCm39)	Y193C	probably damaging	Het
Or8b1b	T	C	9: 38,376,128 (GRCm39)	S264P	probably damaging	Het
Or8g53	A	G	9: 39,683,593 (GRCm39)	F168L	probably benign	Het
Otog	A	T	7: 45,947,593 (GRCm39)	K64*	probably null	Het
Papola	A	G	12: 105,793,311 (GRCm39)	T544A	probably benign	Het
Phc1	A	G	6: 122,297,002 (GRCm39)	V790A	probably damaging	Het
Phf3	G	T	1: 30,845,430 (GRCm39)	R1252S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,730 (GRCm39)	T691A	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rgs17	T	A	10: 5,783,111 (GRCm39)	I159F	probably damaging	Het
Rgs17	T	A	10: 5,792,560 (GRCm39)	E62V	probably benign	Het
Rnase1	A	G	14: 51,383,004 (GRCm39)	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,811,096 (GRCm39)	D189G	probably damaging	Het
Sema4b	A	G	7: 79,869,023 (GRCm39)	N365S	probably damaging	Het
Setd2	A	G	9: 110,446,590 (GRCm39)	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,738,189 (GRCm39)	C415F	probably benign	Het
Stim1	A	G	7: 102,057,612 (GRCm39)	I142V	probably benign	Het
Supt5	T	C	7: 28,014,590 (GRCm39)	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,733,795 (GRCm39)	F174L	possibly damaging	Het
Tex26	A	G	5: 149,393,913 (GRCm39)		probably benign	Het
Tmem132d	A	G	5: 127,941,663 (GRCm39)	V479A	probably benign	Het
Ttn	T	C	2: 76,711,489 (GRCm39)		probably benign	Het
Urb2	T	A	8: 124,757,165 (GRCm39)	N957K	probably benign	Het
Usp24	T	C	4: 106,256,310 (GRCm39)		probably null	Het
Vmn2r114	T	C	17: 23,515,842 (GRCm39)	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,400,161 (GRCm39)	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,356,431 (GRCm39)	Y699*	probably null	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
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'- AGGCAGAACAGGGCATTTCC -3'
(R):5'- CTCCTCAAATAAGTTGCTAGCATAGTG -3'

Sequencing Primer
(F):5'- CCTAGTGGTAGTGCGGCTAATAGAG -3'
(R):5'- AGTGTGCCTGTCTTCATTACCAAAAC -3'

Posted On

2014-11-12