Mutagenetix > Incidental Mutation

Incidental Mutation 'R5043:Capg'

393298

Institutional Source

Beutler Lab

Gene Symbol

Capg

Ensembl Gene

ENSMUSG00000056737

Gene Name

capping actin protein, gelsolin like

Synonyms

mbh1, gCap39

MMRRC Submission

042633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R5043 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

72521374-72539966 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 72535237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 253 (Y253*)

Ref Sequence

ENSEMBL: ENSMUSP00000121121 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000071044
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: Y253*

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 null
Transcript: ENSMUST00000114071
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: Y253*

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 null
Transcript: ENSMUST00000114072
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: Y253*

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 null
Transcript: ENSMUST00000126101
AA Change: Y253*

SMART Domains

Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: Y253*

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

SMART Domains

Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737

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

SMART Domains

Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156168

Predicted Effect

probably benign
Transcript: ENSMUST00000155705

SMART Domains

Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155188

SMART Domains

Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,980,910 (GRCm39)	Y106*	probably null	Het
Acsbg3	A	G	17: 57,192,198 (GRCm39)	Y587C	probably damaging	Het
Akap12	G	C	10: 4,305,047 (GRCm39)	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,767,653 (GRCm39)	K32E	probably benign	Het
Cntnap3	A	T	13: 64,942,162 (GRCm39)	F189L	probably damaging	Het
Cp	T	C	3: 20,028,081 (GRCm39)	S496P	probably benign	Het
Cxcl11	T	C	5: 92,511,011 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,399,785 (GRCm39)	L217P	probably benign	Het
Dip2c	G	T	13: 9,601,863 (GRCm39)	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,606,147 (GRCm39)	S3776L	probably damaging	Het
Emcn	A	G	3: 137,097,362 (GRCm39)	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,400,174 (GRCm39)	Y397*	probably null	Het
Gabrp	T	C	11: 33,518,072 (GRCm39)	N79D	probably benign	Het
Glmp	T	G	3: 88,233,983 (GRCm39)		probably benign	Het
Gm5921	C	T	9: 115,267,087 (GRCm39)		noncoding transcript	Het
Gm6483	A	G	8: 19,743,686 (GRCm39)	T104A	probably benign	Het
Ifi206	A	T	1: 173,314,284 (GRCm39)	M52K	probably damaging	Het
Iqcc	T	C	4: 129,512,070 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,135 (GRCm39)	H288L	probably benign	Het
Myo5b	T	C	18: 74,771,224 (GRCm39)		probably null	Het
Nisch	A	G	14: 30,898,422 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,824 (GRCm39)	N575S	probably benign	Het
Or1n2	A	C	2: 36,796,977 (GRCm39)	R6S	probably benign	Het
Or8b49	A	G	9: 38,506,137 (GRCm39)	I207V	probably damaging	Het
Phlda1	T	A	10: 111,343,152 (GRCm39)	L296Q	unknown	Het
Pramel19	T	C	4: 101,797,721 (GRCm39)	F40L	possibly damaging	Het
Rab36	G	A	10: 74,886,837 (GRCm39)	E182K	probably benign	Het
Rasa3	G	A	8: 13,620,368 (GRCm39)	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,297,195 (GRCm39)	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,291,615 (GRCm39)	N221T	probably damaging	Het
Smg6	T	C	11: 74,820,721 (GRCm39)	S331P	possibly damaging	Het
Snx1	C	T	9: 66,004,718 (GRCm39)	A183T	probably benign	Het
Srpk2	T	C	5: 23,729,515 (GRCm39)	T375A	probably benign	Het
Tecpr1	T	C	5: 144,134,672 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,577,469 (GRCm39)	E126D	probably benign	Het
Ugt2b1	C	G	5: 87,065,503 (GRCm39)	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,399,719 (GRCm39)	W263*	probably null	Het
Utp20	A	T	10: 88,634,608 (GRCm39)	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,608,109 (GRCm39)	Y1257C	probably 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
R5233:Capg	UTSW	6	72,532,509 (GRCm39)	missense	probably damaging	1.00
R5955:Capg	UTSW	6	72,532,483 (GRCm39)	missense	probably benign	0.21
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'- TGCTTTTCCCAGTGCAGAAC -3'
(R):5'- ATTAGCATCTGACCTTCACCAG -3'

Sequencing Primer
(F):5'- TGCAGAACACAGGTGGCC -3'
(R):5'- GGCTGGAAGTGAATACCATTCTC -3'

Posted On

2016-06-15