Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Capg'

471114

Institutional Source

Beutler Lab

Gene Symbol

Capg

Ensembl Gene

ENSMUSG00000056737

Gene Name

capping actin protein, gelsolin like

Synonyms

mbh1, gCap39

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72521374-72539966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72532483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 16 (V16A)

Ref Sequence

ENSEMBL: ENSMUSP00000121221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071044] [ENSMUST00000114071] [ENSMUST00000114072] [ENSMUST00000126101] [ENSMUST00000126124] [ENSMUST00000134809] [ENSMUST00000155188] [ENSMUST00000155705]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071044
AA Change: V16A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART
GEL	136	228	1.86e-31	SMART
GEL	253	348	5.76e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114071
AA Change: V16A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART
GEL	136	228	1.86e-31	SMART
GEL	253	348	5.76e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114072
AA Change: V16A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART
GEL	136	228	1.86e-31	SMART
GEL	253	348	5.76e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126101
AA Change: V16A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART
GEL	136	228	1.86e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126124
AA Change: V16A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART
GEL	136	193	1.19e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127770

Predicted Effect

probably benign
Transcript: ENSMUST00000134809
AA Change: V16A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
Pfam:Gelsolin	28	90	4.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137435

Predicted Effect

probably benign
Transcript: ENSMUST00000155188
AA Change: V16A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155705
AA Change: V16A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
AA Change: V16A

Domain	Start	End	E-Value	Type
GEL	19	104	1.27e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156168

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Inactivation of this loci results in impaired immune cell motility which manifests in homozygous mutant mice as increased susceptibility to some bacterial infections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Acbd6	C	T	1: 155,463,205 (GRCm39)	A135V	probably benign	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Bhmt2	T	C	13: 93,799,705 (GRCm39)	T244A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gjb4	A	T	4: 127,245,745 (GRCm39)	Y65*	probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52w1	C	T	7: 105,017,776 (GRCm39)	A72V	probably damaging	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rps6kb1	T	C	11: 86,404,431 (GRCm39)	K241E	probably damaging	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Samd8	A	G	14: 21,843,152 (GRCm39)	H364R	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly damaging	Het

Other mutations in Capg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02529:Capg	APN	6	72,532,829 (GRCm39)	missense	probably benign	0.01
IGL02569:Capg	APN	6	72,538,032 (GRCm39)	missense	probably damaging	1.00
IGL02613:Capg	APN	6	72,532,594 (GRCm39)	missense	probably damaging	0.99
IGL02629:Capg	APN	6	72,532,737 (GRCm39)	missense	probably benign	0.34
IGL02964:Capg	APN	6	72,539,827 (GRCm39)	missense	probably damaging	0.99
R0014:Capg	UTSW	6	72,538,026 (GRCm39)	missense	possibly damaging	0.95
R1937:Capg	UTSW	6	72,535,236 (GRCm39)	splice site	probably null
R2378:Capg	UTSW	6	72,532,474 (GRCm39)	missense	probably benign	0.07
R4284:Capg	UTSW	6	72,538,082 (GRCm39)	missense	probably damaging	1.00
R5043:Capg	UTSW	6	72,535,237 (GRCm39)	nonsense	probably null
R5233:Capg	UTSW	6	72,532,509 (GRCm39)	missense	probably damaging	1.00
R6486:Capg	UTSW	6	72,534,733 (GRCm39)	nonsense	probably null
R6792:Capg	UTSW	6	72,532,537 (GRCm39)	missense	possibly damaging	0.54
R7760:Capg	UTSW	6	72,534,769 (GRCm39)	missense	probably damaging	1.00
R8241:Capg	UTSW	6	72,533,236 (GRCm39)	critical splice donor site	probably null
R9242:Capg	UTSW	6	72,532,869 (GRCm39)	missense	probably damaging	1.00
R9243:Capg	UTSW	6	72,538,070 (GRCm39)	missense	probably benign
Z1176:Capg	UTSW	6	72,532,459 (GRCm39)	critical splice acceptor site	probably null
Z1177:Capg	UTSW	6	72,533,213 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTAAGCAGTGTGCCTCAC -3'
(R):5'- AGGCAAGGTCCCTGAAATCC -3'

Sequencing Primer
(F):5'- GCCTCACCTTGGCTCTCC -3'
(R):5'- GTCCCTGAAATCCACGGCAG -3'

Posted On

2017-03-31