Mutagenetix > Incidental Mutation

Incidental Mutation 'R6200:Capzb'

503141

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

044340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138920210-139019129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139007324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 145 (V145A)

Ref Sequence

ENSEMBL: ENSMUSP00000030518 (fasta)

Gene Model

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

AlphaFold

P47757

Predicted Effect

probably benign
Transcript: ENSMUST00000030518
AA Change: V145A

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745
AA Change: V145A

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: V104A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745
AA Change: V104A

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: V116A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745
AA Change: V116A

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: V116A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745
AA Change: V116A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131912
AA Change: V164A

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114973
Gene: ENSMUSG00000028745
AA Change: V164A

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: V104A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745
AA Change: V104A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150077

Meta Mutation Damage Score

0.6770

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

91% (32/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,980,876 (GRCm39)	Y54C	probably damaging	Het
Ash1l	A	G	3: 88,977,834 (GRCm39)	H2719R	probably damaging	Het
Atraid	A	G	5: 31,210,210 (GRCm39)	N127D	probably damaging	Het
Catspere2	A	G	1: 177,939,124 (GRCm39)	N666D	possibly damaging	Het
Cfhr4	T	A	1: 139,682,073 (GRCm39)	R174S	probably damaging	Het
Cldn17	A	C	16: 88,303,459 (GRCm39)	L90R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Fancc	A	C	13: 63,508,062 (GRCm39)	L158V	probably damaging	Het
Fcamr	T	C	1: 130,730,927 (GRCm39)	L60P	probably benign	Het
G6pd2	C	T	5: 61,967,214 (GRCm39)	R330C	probably benign	Het
Gpr158	A	T	2: 21,404,227 (GRCm39)	N333I	probably damaging	Het
Herpud2	A	G	9: 25,062,130 (GRCm39)	Y45H	probably damaging	Het
Icam5	A	G	9: 20,950,045 (GRCm39)	Y868C	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Homo
Luzp1	C	A	4: 136,268,577 (GRCm39)	Q267K	probably benign	Het
Nkpd1	C	A	7: 19,258,528 (GRCm39)	A769E	possibly damaging	Het
Or5p58	AACTCTGTCACT	AACT	7: 107,694,732 (GRCm39)		probably null	Het
Pabpc4l	C	A	3: 46,401,138 (GRCm39)	V169L	probably damaging	Het
Pcdhga7	A	G	18: 37,849,135 (GRCm39)	N381D	probably damaging	Het
Pcsk1	A	T	13: 75,263,374 (GRCm39)	N372Y	possibly damaging	Het
Ppp1r21	C	T	17: 88,876,613 (GRCm39)	T475M	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Psd2	G	A	18: 36,139,776 (GRCm39)		probably null	Het
Psip1	T	C	4: 83,392,610 (GRCm39)	K100E	probably benign	Het
Pxdn	A	G	12: 30,053,111 (GRCm39)	H1096R	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a8	C	T	15: 79,137,137 (GRCm39)	G91D	probably damaging	Het
Slc22a21	A	T	11: 53,848,864 (GRCm39)	I296N	probably damaging	Het
Smad9	A	G	3: 54,696,607 (GRCm39)	D224G	probably benign	Het
Tle2	G	A	10: 81,424,706 (GRCm39)	V678M	probably damaging	Het
Tmc1	C	T	19: 20,766,954 (GRCm39)	R749Q	possibly damaging	Het
Tmco3	T	A	8: 13,342,077 (GRCm39)		probably null	Het
Tspoap1	A	G	11: 87,652,529 (GRCm39)	E101G	possibly damaging	Het
Zfp57	A	T	17: 37,321,303 (GRCm39)	T386S	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
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'- GGTTAAAATGTCATCCCTGGGTTC -3'
(R):5'- AGCATGTCCCTTGCAGAAGC -3'

Sequencing Primer
(F):5'- AAAATGTCATCCCTGGGTTCTTGTG -3'
(R):5'- AAGAGCTGCACTGACGGTTC -3'

Posted On

2018-02-27