Mutagenetix > Incidental Mutation

Incidental Mutation 'R0653:Casq2'

62367

Institutional Source

Beutler Lab

Gene Symbol

Casq2

Ensembl Gene

ENSMUSG00000027861

Gene Name

calsequestrin 2

Synonyms

cCSQ, Csq2, ESTM52, cardiac calsequestrin

MMRRC Submission

038838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0653 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

101993731-102053830 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 102020482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029454] [ENSMUST00000164123] [ENSMUST00000165540]

AlphaFold

O09161

Predicted Effect

probably null
Transcript: ENSMUST00000029454

SMART Domains

Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861

Domain	Start	End	E-Value	Type
Pfam:Calsequestrin	1	382	1.4e-226	PFAM
Pfam:Thioredoxin_6	171	364	7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164123

SMART Domains

Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861

Domain	Start	End	E-Value	Type
Pfam:Calsequestrin	2	108	1.3e-46	PFAM
Pfam:Thioredoxin_6	101	293	6.1e-20	PFAM
Pfam:Calsequestrin	106	311	1.9e-127	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165540

SMART Domains

Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861

Domain	Start	End	E-Value	Type
Pfam:Calsequestrin	1	386	7.4e-224	PFAM
Pfam:Thioredoxin_6	171	367	9.1e-20	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,371 (GRCm39)	R612*	probably null	Het
Adgra1	A	G	7: 139,456,063 (GRCm39)	T564A	probably damaging	Het
Akr1c18	A	T	13: 4,195,307 (GRCm39)	D50E	probably damaging	Het
Atg9a	C	A	1: 75,166,972 (GRCm39)	L26F	probably damaging	Het
Atp11b	A	G	3: 35,893,343 (GRCm39)	T899A	probably damaging	Het
Atxn2	A	G	5: 121,910,841 (GRCm39)	E358G	probably damaging	Het
Bmp3	A	G	5: 99,019,970 (GRCm39)	Y131C	probably damaging	Het
Brip1	T	C	11: 86,043,484 (GRCm39)	E360G	possibly damaging	Het
Casd1	A	T	6: 4,608,075 (GRCm39)	I76L	probably benign	Het
Ccdc185	T	A	1: 182,575,129 (GRCm39)	Q520L	possibly damaging	Het
Cenpf	T	C	1: 189,392,183 (GRCm39)	K550E	probably damaging	Het
Ciz1	T	C	2: 32,262,418 (GRCm39)	S521P	probably damaging	Het
Clstn2	A	T	9: 97,340,257 (GRCm39)	V705E	probably damaging	Het
Dagla	A	G	19: 10,225,789 (GRCm39)	Y792H	probably damaging	Het
Dgke	A	T	11: 88,950,995 (GRCm39)	C73S	probably benign	Het
Egflam	A	G	15: 7,279,509 (GRCm39)		probably null	Het
Farp1	T	C	14: 121,471,258 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,790 (GRCm39)	E234G	probably benign	Het
Gtf3c5	A	T	2: 28,468,008 (GRCm39)	M151K	probably benign	Het
Hgs	G	A	11: 120,359,904 (GRCm39)	R36H	probably damaging	Het
Lats2	G	A	14: 57,937,653 (GRCm39)	Q279*	probably null	Het
Lysmd4	T	A	7: 66,875,788 (GRCm39)	D150E	probably benign	Het
Mex3b	A	G	7: 82,518,242 (GRCm39)	K186E	probably damaging	Het
Myo9a	A	C	9: 59,832,274 (GRCm39)	Q2601P	probably damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nr5a2	A	G	1: 136,876,543 (GRCm39)	V40A	probably benign	Het
Obscn	C	A	11: 58,898,534 (GRCm39)		probably benign	Het
Or2y1d	C	A	11: 49,322,078 (GRCm39)	Y258*	probably null	Het
Or4c114	A	G	2: 88,904,808 (GRCm39)	I209T	possibly damaging	Het
Or8g4	A	G	9: 39,661,934 (GRCm39)	N84S	probably benign	Het
Pclo	T	A	5: 14,732,269 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,118,228 (GRCm39)	I2939V	probably benign	Het
Rtn4	A	T	11: 29,657,256 (GRCm39)	K470I	probably damaging	Het
Sbno1	A	G	5: 124,524,955 (GRCm39)	I1050T	possibly damaging	Het
Scaf11	G	T	15: 96,316,522 (GRCm39)	S17*	probably null	Het
Scn9a	A	T	2: 66,363,721 (GRCm39)	N841K	probably damaging	Het
Slc35e3	C	A	10: 117,576,711 (GRCm39)	E207*	probably null	Het
Slc6a20b	A	G	9: 123,426,377 (GRCm39)	F503L	probably damaging	Het
Spag16	G	T	1: 69,909,504 (GRCm39)	K200N	probably damaging	Het
Supt6	G	T	11: 78,116,841 (GRCm39)	Q604K	probably benign	Het
Taok1	A	G	11: 77,469,550 (GRCm39)		probably null	Het
Tjp1	A	T	7: 64,964,503 (GRCm39)	H889Q	probably damaging	Het
Tmed6	A	T	8: 107,792,283 (GRCm39)		probably null	Het
Tsen54	A	T	11: 115,705,887 (GRCm39)	E68V	probably damaging	Het
Ttn	A	G	2: 76,559,878 (GRCm39)	S21181P	probably damaging	Het
Ube3d	A	T	9: 86,334,043 (GRCm39)	M33K	possibly damaging	Het
Umodl1	C	A	17: 31,203,002 (GRCm39)	Q452K	probably benign	Het
Wif1	G	T	10: 120,935,704 (GRCm39)	A354S	probably benign	Het
Wnk2	A	G	13: 49,210,492 (GRCm39)	F1788L	possibly damaging	Het
Zfhx3	A	T	8: 109,673,440 (GRCm39)	I1497F	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp30	G	A	7: 29,492,178 (GRCm39)	R225Q	probably damaging	Het
Zfp87	T	C	13: 74,520,190 (GRCm39)	E296G	probably damaging	Het
Zfp874b	A	G	13: 67,623,052 (GRCm39)	F86S	possibly damaging	Het
Zfyve19	A	G	2: 119,041,696 (GRCm39)	S88G	probably benign	Het

Other mutations in Casq2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Casq2	APN	3	102,017,547 (GRCm39)	splice site	probably benign
IGL02597:Casq2	APN	3	102,033,953 (GRCm39)	missense	probably damaging	1.00
IGL02863:Casq2	APN	3	102,051,491 (GRCm39)	missense	possibly damaging	0.84
IGL02902:Casq2	APN	3	101,994,113 (GRCm39)	nonsense	probably null
IGL03176:Casq2	APN	3	102,033,970 (GRCm39)	missense	possibly damaging	0.50
R0126:Casq2	UTSW	3	102,040,715 (GRCm39)	missense	probably damaging	1.00
R1036:Casq2	UTSW	3	102,049,531 (GRCm39)	missense	probably damaging	1.00
R1052:Casq2	UTSW	3	102,051,550 (GRCm39)	splice site	probably null
R1158:Casq2	UTSW	3	102,024,199 (GRCm39)	missense	probably damaging	1.00
R2886:Casq2	UTSW	3	102,051,534 (GRCm39)	missense	probably damaging	1.00
R3001:Casq2	UTSW	3	102,052,517 (GRCm39)	missense	probably damaging	0.99
R3002:Casq2	UTSW	3	102,052,517 (GRCm39)	missense	probably damaging	0.99
R4155:Casq2	UTSW	3	102,040,418 (GRCm39)	splice site	probably null
R4715:Casq2	UTSW	3	102,017,560 (GRCm39)	missense	probably benign	0.00
R6013:Casq2	UTSW	3	102,052,945 (GRCm39)	splice site	probably null
R6778:Casq2	UTSW	3	102,035,247 (GRCm39)	splice site	probably null
R6836:Casq2	UTSW	3	101,994,076 (GRCm39)	missense	probably damaging	1.00
R6844:Casq2	UTSW	3	102,017,578 (GRCm39)	missense	possibly damaging	0.70
R7055:Casq2	UTSW	3	102,049,561 (GRCm39)	missense	probably damaging	1.00
R7638:Casq2	UTSW	3	101,994,016 (GRCm39)	missense	possibly damaging	0.73
R7761:Casq2	UTSW	3	102,052,580 (GRCm39)	missense	probably damaging	1.00
R7997:Casq2	UTSW	3	101,994,158 (GRCm39)	missense	probably damaging	0.98
R8169:Casq2	UTSW	3	102,017,628 (GRCm39)	missense	possibly damaging	0.69
R9060:Casq2	UTSW	3	102,052,619 (GRCm39)	missense	unknown
R9303:Casq2	UTSW	3	102,052,700 (GRCm39)	missense	unknown
R9305:Casq2	UTSW	3	102,052,700 (GRCm39)	missense	unknown
R9600:Casq2	UTSW	3	102,052,622 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATGCCAGCTCTGACAGACTGACC -3'
(R):5'- ACCAATGTCAAGGGAATGCCAGTG -3'

Sequencing Primer
(F):5'- CAGACTGACCTGTCTGTGTGAG -3'
(R):5'- CCAGTGGGTATCAGGGTATAAC -3'

Posted On

2013-07-30