Mutagenetix > Incidental Mutation

Incidental Mutation 'R8130:Caps2'

631981

Institutional Source

Beutler Lab

Gene Symbol

Caps2

Ensembl Gene

ENSMUSG00000035694

Gene Name

calcyphosphine 2

Synonyms

D630005B03Rik

MMRRC Submission

067559-MU

Accession Numbers

Essential gene?

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

Stock #

R8130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111999526-112052460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112018381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 177 (D177V)

Ref Sequence

ENSEMBL: ENSMUSP00000129887 (fasta)

Gene Model

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

AlphaFold

Q8BUG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092176
AA Change: D135V

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: D135V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170013
AA Change: D177V

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: D177V

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

96% (52/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,271 (GRCm39)	I130M	probably damaging	Het
4921539E11Rik	T	C	4: 103,092,895 (GRCm39)	D142G	probably damaging	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Arfgef2	T	A	2: 166,678,170 (GRCm39)	S218T	possibly damaging	Het
Armc8	C	T	9: 99,433,600 (GRCm39)	V40I	probably benign	Het
Cdh8	A	T	8: 99,757,676 (GRCm39)	F641I	probably damaging	Het
Cemip	T	C	7: 83,596,384 (GRCm39)	S1127G	probably benign	Het
Cmtm1	C	A	8: 105,036,088 (GRCm39)	Q180H	unknown	Het
Col15a1	C	T	4: 47,312,196 (GRCm39)	T1337I	probably damaging	Het
Col18a1	A	T	10: 76,910,284 (GRCm39)	M555K	probably benign	Het
Ctrb1	A	G	8: 112,415,823 (GRCm39)	F89L	possibly damaging	Het
Disp1	T	C	1: 182,917,199 (GRCm39)	T76A	probably benign	Het
Dpep1	T	C	8: 123,926,965 (GRCm39)	V263A	probably damaging	Het
Dysf	G	A	6: 84,114,358 (GRCm39)	E1216K	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,052 (GRCm39)	Y45C	probably benign	Het
Fam186a	CGG	CG	15: 99,841,914 (GRCm39)		probably null	Het
Gcm1	T	A	9: 77,971,816 (GRCm39)	D252E	probably benign	Het
Gm11559	A	G	11: 99,755,416 (GRCm39)	T22A	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Hypk	A	G	2: 121,286,859 (GRCm39)		probably benign	Het
I830077J02Rik	C	T	3: 105,834,233 (GRCm39)	C64Y	possibly damaging	Het
Igkv4-86	T	C	6: 68,887,650 (GRCm39)	I30V	probably benign	Het
Il17ra	A	G	6: 120,455,416 (GRCm39)	I342V	probably benign	Het
Kcnip3	C	T	2: 127,352,828 (GRCm39)	A64T	possibly damaging	Het
Kdm5d	T	A	Y: 940,658 (GRCm39)	D1056E	possibly damaging	Het
Kif19b	C	T	5: 140,460,716 (GRCm39)	R461C	probably damaging	Het
Krtap19-2	C	T	16: 88,670,903 (GRCm39)	G81R	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lpin1	A	T	12: 16,629,965 (GRCm39)	I69N		Het
Matcap1	G	A	8: 106,012,145 (GRCm39)	R101W	probably benign	Het
Mki67	C	T	7: 135,299,293 (GRCm39)	D1914N	probably damaging	Het
Mmrn1	A	T	6: 60,937,707 (GRCm39)	Q235L	probably damaging	Het
Mndal	T	A	1: 173,699,111 (GRCm39)	K185*	probably null	Het
Muc6	T	C	7: 141,233,354 (GRCm39)	T802A	probably damaging	Het
Necab1	A	T	4: 15,005,073 (GRCm39)	F130L	probably damaging	Het
Nemf	A	T	12: 69,402,826 (GRCm39)	M70K	possibly damaging	Het
Nploc4	A	G	11: 120,280,240 (GRCm39)	I436T	possibly damaging	Het
Obscn	C	A	11: 59,015,439 (GRCm39)	R1011M	probably damaging	Het
Or4k44	A	T	2: 111,367,825 (GRCm39)	F270I	probably damaging	Het
Or5aq1b	T	C	2: 86,901,570 (GRCm39)	K303E	probably benign	Het
Or8k24	T	A	2: 86,215,911 (GRCm39)	M284L	probably benign	Het
Ormdl1	T	A	1: 53,338,139 (GRCm39)	M1K	probably null	Het
Pramel34	A	T	5: 93,784,597 (GRCm39)	L289Q	probably damaging	Het
Psmb3	A	G	11: 97,594,723 (GRCm39)	D38G	probably benign	Het
Psme4	T	A	11: 30,792,026 (GRCm39)	L1171Q	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc22a18	G	A	7: 143,052,911 (GRCm39)	V379I	probably damaging	Het
Speg	T	A	1: 75,392,240 (GRCm39)	F1632L	probably damaging	Het
Taok1	G	A	11: 77,470,659 (GRCm39)	R49C	possibly damaging	Het
Ttll6	T	C	11: 96,047,425 (GRCm39)	S675P	probably benign	Het
Usp8	A	T	2: 126,559,918 (GRCm39)		probably benign	Het
Vmn2r81	T	A	10: 79,110,538 (GRCm39)	N550K	possibly damaging	Het
Zfp119a	A	T	17: 56,172,971 (GRCm39)	C291S	probably damaging	Het
Zfp329	C	A	7: 12,544,313 (GRCm39)	G404C	probably damaging	Het
Zfp934	C	A	13: 62,667,985 (GRCm39)		probably null	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
R5285:Caps2	UTSW	10	112,044,216 (GRCm39)	missense	probably benign
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
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'- TAAGATGCTTGGTGGTCTATTCCC -3'
(R):5'- CATGTCCTGGAAACCCCATC -3'

Sequencing Primer
(F):5'- GGTCTATTCCCATGCTTTGTTAAAAG -3'
(R):5'- GAAGTAAGACCTGTCTGCATTCC -3'

Posted On

2020-06-30