Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Caps2'

403001

Institutional Source

Beutler Lab

Gene Symbol

Caps2

Ensembl Gene

ENSMUSG00000035694

Gene Name

calcyphosphine 2

Synonyms

D630005B03Rik

MMRRC Submission

042869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111999526-112052460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112044216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 472 (Y472N)

Ref Sequence

ENSEMBL: ENSMUSP00000129887 (fasta)

Gene Model

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

AlphaFold

Q8BUG5

Predicted Effect

probably benign
Transcript: ENSMUST00000092176
AA Change: Y430N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: Y430N

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

probably benign
Transcript: ENSMUST00000170013
AA Change: Y472N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: Y472N

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,097 (GRCm39)	T12A	probably benign	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adcy8	G	T	15: 64,639,706 (GRCm39)	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,553,752 (GRCm39)	K539*	probably null	Het
Ap1m2	G	T	9: 21,216,933 (GRCm39)	Y134*	probably null	Het
Apobr	A	G	7: 126,184,175 (GRCm39)		probably benign	Het
Atl1	A	G	12: 70,001,273 (GRCm39)	K345R	probably benign	Het
Avil	T	C	10: 126,854,328 (GRCm39)	L765P	probably damaging	Het
Catspere2	A	G	1: 177,931,454 (GRCm39)	K458E	unknown	Het
Cd177	A	T	7: 24,445,674 (GRCm39)	S590T	probably benign	Het
Cep295	T	C	9: 15,233,887 (GRCm39)	D2223G	probably benign	Het
Cfh	T	C	1: 140,028,636 (GRCm39)	T493A	probably benign	Het
Chek1	T	C	9: 36,625,748 (GRCm39)	D299G	probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Crhr1	A	T	11: 104,061,323 (GRCm39)	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,791,893 (GRCm39)	V500A	probably benign	Het
Dcdc5	A	T	2: 106,198,500 (GRCm39)		noncoding transcript	Het
Ergic3	A	G	2: 155,859,957 (GRCm39)		probably benign	Het
Fabp3-ps1	T	G	10: 86,568,066 (GRCm39)		probably benign	Het
Gm6445	C	A	19: 9,585,032 (GRCm39)		noncoding transcript	Het
Gucy2d	C	A	7: 98,107,474 (GRCm39)		probably null	Het
Ighv1-19-1	C	A	12: 114,667,872 (GRCm39)		probably benign	Het
Igkv2-116	G	T	6: 68,129,463 (GRCm39)	R75L	probably benign	Het
Inhbc	C	A	10: 127,193,269 (GRCm39)	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Lyst	T	C	13: 13,809,011 (GRCm39)	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Msh4	T	C	3: 153,579,350 (GRCm39)	N587S	probably benign	Het
Mug1	G	A	6: 121,818,066 (GRCm39)	E126K	probably benign	Het
Nav2	T	C	7: 49,197,982 (GRCm39)	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,283,475 (GRCm39)	I413T	probably damaging	Het
Nipa2	A	T	7: 55,582,760 (GRCm39)	Y328*	probably null	Het
Or1e25	T	A	11: 73,493,767 (GRCm39)	Y120*	probably null	Het
Or51a24	A	G	7: 103,733,340 (GRCm39)	*316R	probably null	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or5k15	A	T	16: 58,710,471 (GRCm39)	Y37*	probably null	Het
Or5k3	T	C	16: 58,969,633 (GRCm39)	L140P	probably damaging	Het
Pla2g4e	T	C	2: 120,019,985 (GRCm39)	D155G	probably damaging	Het
Plxnb1	C	T	9: 108,937,527 (GRCm39)	T1176I	probably damaging	Het
Polg	A	G	7: 79,114,973 (GRCm39)		probably benign	Het
Prl8a2	G	A	13: 27,534,116 (GRCm39)		probably null	Het
Prmt7	G	A	8: 106,974,991 (GRCm39)	R529Q	probably benign	Het
Psg17	T	A	7: 18,554,126 (GRCm39)	L41F	probably benign	Het
Rad18	T	C	6: 112,663,726 (GRCm39)	R73G	probably benign	Het
Rhpn2	G	T	7: 35,080,990 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sarm1	A	G	11: 78,388,265 (GRCm39)	F7S	probably benign	Het
Sgip1	T	A	4: 102,778,674 (GRCm39)		probably benign	Het
Sh3gl2	A	G	4: 85,294,686 (GRCm39)	K99R	probably benign	Het
Sorbs1	G	A	19: 40,310,334 (GRCm39)	T1018I	probably damaging	Het
Spns2	G	A	11: 72,380,305 (GRCm39)	A106V	possibly damaging	Het
Stab1	A	G	14: 30,865,433 (GRCm39)		probably benign	Het
Steap3	T	C	1: 120,169,610 (GRCm39)	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,674,019 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,034,191 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,509,200 (GRCm39)	S2G	possibly damaging	Het
Usp24	T	A	4: 106,264,230 (GRCm39)	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,579,457 (GRCm39)	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,843,703 (GRCm39)	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,365,442 (GRCm39)	N544S	probably damaging	Het
Vwa1	C	T	4: 155,855,352 (GRCm39)	A254T	probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,545,025 (GRCm39)	L294H	probably damaging	Het

Other mutations in Caps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01888:Caps2	APN	10	112,018,965 (GRCm39)	missense	probably damaging	1.00
IGL02159:Caps2	APN	10	112,039,928 (GRCm39)	missense	probably benign	0.25
IGL02412:Caps2	APN	10	112,039,941 (GRCm39)	critical splice donor site	probably null
IGL03380:Caps2	APN	10	112,036,601 (GRCm39)	missense	probably benign	0.05
R0601:Caps2	UTSW	10	112,031,695 (GRCm39)	missense	possibly damaging	0.95
R0658:Caps2	UTSW	10	112,039,943 (GRCm39)	splice site	probably benign
R0846:Caps2	UTSW	10	112,051,490 (GRCm39)	missense	probably damaging	1.00
R1472:Caps2	UTSW	10	112,015,377 (GRCm39)	missense	probably benign	0.26
R1711:Caps2	UTSW	10	112,026,883 (GRCm39)	missense	possibly damaging	0.86
R1834:Caps2	UTSW	10	112,031,623 (GRCm39)	missense	possibly damaging	0.89
R1990:Caps2	UTSW	10	112,036,591 (GRCm39)	missense	probably benign	0.01
R1996:Caps2	UTSW	10	112,039,908 (GRCm39)	missense	probably damaging	1.00
R2077:Caps2	UTSW	10	112,035,632 (GRCm39)	missense	possibly damaging	0.71
R3161:Caps2	UTSW	10	112,018,391 (GRCm39)	nonsense	probably null
R3162:Caps2	UTSW	10	112,018,391 (GRCm39)	nonsense	probably null
R3162:Caps2	UTSW	10	112,018,391 (GRCm39)	nonsense	probably null
R3716:Caps2	UTSW	10	112,036,637 (GRCm39)	missense	probably benign	0.00
R4702:Caps2	UTSW	10	112,044,252 (GRCm39)	missense	probably damaging	1.00
R4978:Caps2	UTSW	10	112,018,399 (GRCm39)	missense	probably benign	0.04
R5911:Caps2	UTSW	10	112,001,591 (GRCm39)	start gained	probably benign
R5933:Caps2	UTSW	10	112,051,351 (GRCm39)	missense	probably benign	0.38
R6368:Caps2	UTSW	10	112,030,873 (GRCm39)	nonsense	probably null
R6476:Caps2	UTSW	10	112,011,465 (GRCm39)	missense	possibly damaging	0.66
R7442:Caps2	UTSW	10	112,044,259 (GRCm39)	missense	probably damaging	0.99
R7899:Caps2	UTSW	10	112,001,666 (GRCm39)	missense	possibly damaging	0.86
R8130:Caps2	UTSW	10	112,018,381 (GRCm39)	missense	probably benign	0.38
R8880:Caps2	UTSW	10	112,030,824 (GRCm39)	splice site	probably benign
R9151:Caps2	UTSW	10	112,031,829 (GRCm39)	missense	possibly damaging	0.92
R9516:Caps2	UTSW	10	112,036,637 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTAGGTTACCTTGTCTAGAGCC -3'
(R):5'- ACTAAACCCAGTGTGTATTACAGC -3'

Sequencing Primer
(F):5'- GTTACCTTGTCTAGAGCCACAGATG -3'
(R):5'- CCCAGTGTGTATTACAGCCAAAATG -3'

Posted On

2016-07-22