Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Casq2'

363644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Casq2

Ensembl Gene

ENSMUSG00000027861

Gene Name

calsequestrin 2

Synonyms

cCSQ, Csq2, ESTM52, cardiac calsequestrin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

101993731-102053830 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 101994113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 53 (C53*)

Ref Sequence

ENSEMBL: ENSMUSP00000130482 (fasta)

Gene Model

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

AlphaFold

O09161

Predicted Effect

probably null
Transcript: ENSMUST00000029454
AA Change: C53*

SMART Domains

Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: C53*

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 null
Transcript: ENSMUST00000164123
AA Change: C53*

SMART Domains

Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: C53*

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
AA Change: C53*

SMART Domains

Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: C53*

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Afm	A	G	5: 90,674,222 (GRCm39)	K245E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Ift56	A	C	6: 38,402,097 (GRCm39)	S530R	probably benign	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,119,745 (GRCm39)	V935E	probably benign	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,042,141 (GRCm39)	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,360,142 (GRCm39)	D531N	probably benign	Het
Sox13	A	G	1: 133,317,204 (GRCm39)	L143P	probably damaging	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		probably null	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
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
R0653:Casq2	UTSW	3	102,020,482 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-12-18