Mutagenetix > Incidental Mutations

Incidental Mutation 'R2077:Caps2'

229222

Institutional Source

Beutler Lab

Gene Symbol

Caps2

Ensembl Gene

ENSMUSG00000035694

Gene Name

calcyphosphine 2

Synonyms

MMRRC Submission

040082-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112163621-112216555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112199727 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 371 (T371I)

Ref Sequence

ENSEMBL: ENSMUSP00000129887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092176] [ENSMUST00000170013]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092176
AA Change: T329I

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: T329I

Domain	Start	End	E-Value	Type
Pfam:EF-hand_6	384	420	2e-4	PFAM
Blast:EFh	457	485	5e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132994

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170013
AA Change: T371I

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: T371I

Domain	Start	End	E-Value	Type
PDB:3E3R\|B	403	592	4e-27	PDB
Blast:EFh	425	453	1e-7	BLAST
SCOP:d1hqva_	430	522	4e-10	SMART
Blast:EFh	461	491	3e-6	BLAST
Blast:EFh	499	527	6e-11	BLAST

Meta Mutation Damage Score

0.1292

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,457,034		probably benign	Het
Abhd16b	A	C	2: 181,493,416	D37A	probably benign	Het
Acp7	T	C	7: 28,629,482	E91G	probably damaging	Het
Alms1	T	A	6: 85,622,309	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,460,008	D620V	probably damaging	Het
Ccdc175	A	G	12: 72,140,020	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,299,196	L1434P	probably damaging	Het
Cdkl3	A	T	11: 52,026,839	E321V	probably damaging	Het
Clec2d	G	T	6: 129,183,190	V56L	possibly damaging	Het
Cops3	A	T	11: 59,824,310	S301T	possibly damaging	Het
Crygd	T	C	1: 65,063,246	D19G	probably damaging	Het
Dnah2	T	C	11: 69,496,606	I931M	possibly damaging	Het
Dst	A	T	1: 34,211,170	R4068S	probably damaging	Het
Fas	C	T	19: 34,320,553		probably benign	Het
G6pd2	T	A	5: 61,810,251	D456E	probably damaging	Het
Galnt18	G	A	7: 111,554,602	R272W	probably damaging	Het
Grb2	C	A	11: 115,645,825	G200W	probably damaging	Het
Herc4	A	G	10: 63,264,053	N85S	probably benign	Het
Ighv7-2	T	C	12: 113,912,107	D92G	probably damaging	Het
Itih3	A	G	14: 30,909,835	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,363,120	N247D	probably benign	Het
Kcnd3	T	C	3: 105,666,999	V500A	probably benign	Het
Lrp2	C	T	2: 69,507,843	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,761,987	T22A	probably damaging	Het
Mdga2	A	G	12: 66,655,362	V355A	probably damaging	Het
Megf8	T	A	7: 25,353,738	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,944,966	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,963,992	C534R	probably benign	Het
Nup155	A	G	15: 8,143,026	E832G	probably damaging	Het
Olfr1131	A	G	2: 87,628,829	Y122C	probably damaging	Het
Plcl2	A	G	17: 50,606,829	T289A	probably benign	Het
Ptprs	C	T	17: 56,434,990	R7Q	probably null	Het
Rab3ip	A	T	10: 116,918,960	D198E	possibly damaging	Het
Scaf4	A	T	16: 90,252,435	F255I	unknown	Het
Senp6	T	C	9: 80,126,155	S475P	probably benign	Het
Shpk	T	C	11: 73,203,959	L67P	probably damaging	Het
Sik3	T	A	9: 46,219,503	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,353,724	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,700,566	V23A	probably benign	Het
Slit3	A	T	11: 35,544,748	I169F	possibly damaging	Het
Stxbp5l	A	G	16: 37,236,275	V379A	possibly damaging	Het
Tex2	T	C	11: 106,506,864		probably null	Het
Tnpo3	A	G	6: 29,586,144	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,790,390	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,815,399	C562S	probably damaging	Het
Wipi1	T	C	11: 109,577,664	N368S	probably benign	Het
Zbtb41	T	C	1: 139,424,093	S315P	probably damaging	Het

Other mutations in Caps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01888:Caps2	APN	10	112183060	missense	probably damaging	1.00
IGL02159:Caps2	APN	10	112204023	missense	probably benign	0.25
IGL02412:Caps2	APN	10	112204036	critical splice donor site	probably null
IGL03380:Caps2	APN	10	112200696	missense	probably benign	0.05
R0601:Caps2	UTSW	10	112195790	missense	possibly damaging	0.95
R0658:Caps2	UTSW	10	112204038	splice site	probably benign
R0846:Caps2	UTSW	10	112215585	missense	probably damaging	1.00
R1472:Caps2	UTSW	10	112179472	missense	probably benign	0.26
R1711:Caps2	UTSW	10	112190978	missense	possibly damaging	0.86
R1834:Caps2	UTSW	10	112195718	missense	possibly damaging	0.89
R1990:Caps2	UTSW	10	112200686	missense	probably benign	0.01
R1996:Caps2	UTSW	10	112204003	missense	probably damaging	1.00
R3161:Caps2	UTSW	10	112182486	nonsense	probably null
R3162:Caps2	UTSW	10	112182486	nonsense	probably null
R3162:Caps2	UTSW	10	112182486	nonsense	probably null
R3716:Caps2	UTSW	10	112200732	missense	probably benign	0.00
R4702:Caps2	UTSW	10	112208347	missense	probably damaging	1.00
R4978:Caps2	UTSW	10	112182494	missense	probably benign	0.04
R5285:Caps2	UTSW	10	112208311	missense	probably benign
R5911:Caps2	UTSW	10	112165686	start gained	probably benign
R5933:Caps2	UTSW	10	112215446	missense	probably benign	0.38
R6368:Caps2	UTSW	10	112194968	nonsense	probably null
R6476:Caps2	UTSW	10	112175560	missense	possibly damaging	0.66
R7442:Caps2	UTSW	10	112208354	missense	probably damaging	0.99
R7899:Caps2	UTSW	10	112165761	missense	possibly damaging	0.86
R8130:Caps2	UTSW	10	112182476	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- ATCTCTTCCATCAGAATGAGCTG -3'
(R):5'- TGATAGCCTAACTTTTAAAGCCCC -3'

Sequencing Primer
(F):5'- CAGGGTGCAACTTTGACA -3'
(R):5'- TTTAAAGCCCCACTTTTGATAGC -3'

Posted On

2014-09-17