Mutagenetix > Incidental Mutation

Incidental Mutation 'R3716:Caps2'

259921

Institutional Source

Beutler Lab

Gene Symbol

Caps2

Ensembl Gene

ENSMUSG00000035694

Gene Name

calcyphosphine 2

Synonyms

D630005B03Rik

Accession Numbers

Essential gene?

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

Stock #

R3716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111999526-112052460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112036637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 399 (H399R)

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: H357R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000089815
Gene: ENSMUSG00000035694
AA Change: H357R

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: H399R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129887
Gene: ENSMUSG00000035694
AA Change: H399R

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,363 (GRCm39)	L690H	probably damaging	Het
Abtb3	C	T	10: 85,397,392 (GRCm39)	H442Y	probably damaging	Het
Acaa1b	A	G	9: 118,985,709 (GRCm39)	V72A	probably benign	Het
Actl7a	T	C	4: 56,744,295 (GRCm39)	L274P	possibly damaging	Het
Ankrd50	T	C	3: 38,508,299 (GRCm39)	E433G	probably damaging	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Col6a6	A	C	9: 105,659,373 (GRCm39)	L524R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dglucy	A	T	12: 100,816,375 (GRCm39)	N339I	probably damaging	Het
Dhrs4	G	T	14: 55,716,362 (GRCm39)	M1I	probably null	Het
Disp1	A	T	1: 182,869,315 (GRCm39)	L1035Q	probably damaging	Het
Ephb1	T	C	9: 102,071,999 (GRCm39)	E260G	probably damaging	Het
Fetub	T	A	16: 22,754,443 (GRCm39)	C217S	probably damaging	Het
Firrm	T	C	1: 163,784,457 (GRCm39)	I779M	probably damaging	Het
Frem2	T	C	3: 53,479,781 (GRCm39)	S1971G	probably damaging	Het
Gria2	A	G	3: 80,648,311 (GRCm39)	Y142H	possibly damaging	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il21r	A	G	7: 125,231,441 (GRCm39)	K290E	probably damaging	Het
Inpp5f	C	G	7: 128,292,394 (GRCm39)	L17V	probably damaging	Het
Kcnh3	A	G	15: 99,130,646 (GRCm39)	N421S	possibly damaging	Het
Krt33a	A	C	11: 99,904,991 (GRCm39)	C172G	probably benign	Het
Lrp6	A	T	6: 134,484,410 (GRCm39)	H404Q	probably damaging	Het
Macf1	T	C	4: 123,367,295 (GRCm39)	T924A	probably benign	Het
Mepe	C	A	5: 104,485,294 (GRCm39)	H145N	probably benign	Het
Mesp2	T	G	7: 79,462,542 (GRCm39)	L366R	possibly damaging	Het
Mink1	T	A	11: 70,498,587 (GRCm39)	L584Q	probably damaging	Het
Mms19	A	G	19: 41,933,174 (GRCm39)	V997A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Myo15b	G	T	11: 115,754,239 (GRCm39)	C913F	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Nelfcd	T	C	2: 174,264,798 (GRCm39)	V179A	possibly damaging	Het
Obscn	C	T	11: 58,973,487 (GRCm39)	C2157Y	probably damaging	Het
Or8i2	A	T	2: 86,852,707 (GRCm39)	Y60*	probably null	Het
Orc1	C	T	4: 108,471,656 (GRCm39)	A836V	probably damaging	Het
Pcdhb6	G	T	18: 37,469,259 (GRCm39)	V43L	probably benign	Het
Prkcd	G	T	14: 30,321,669 (GRCm39)	D393E	probably benign	Het
Rb1cc1	G	C	1: 6,340,914 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,419,988 (GRCm39)	T375S	probably benign	Het
Slc9c1	A	T	16: 45,400,582 (GRCm39)	M731L	probably benign	Het
Sox21	A	T	14: 118,472,842 (GRCm39)	M69K	probably benign	Het
Spata18	A	T	5: 73,824,193 (GRCm39)		probably null	Het
Taok1	A	G	11: 77,432,636 (GRCm39)	F726L	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Usp32	A	G	11: 84,933,389 (GRCm39)	Y40H	probably damaging	Het
Usp37	A	T	1: 74,532,145 (GRCm39)	S83T	possibly damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	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
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
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'- TCTCCAGGGAATCAAAAGCAAT -3'
(R):5'- GGGATTTATCAGTGATTCAACATTCAC -3'

Sequencing Primer
(F):5'- ATGGGCAGAAGTGGGGCTTTC -3'
(R):5'- GAGGGGTCCTACCATTTATGACAAC -3'

Posted On

2015-01-23