Mutagenetix > Incidental Mutation

Incidental Mutation 'R9303:Casq2'

705051

Institutional Source

Beutler Lab

Gene Symbol

Casq2

Ensembl Gene

ENSMUSG00000027861

Gene Name

calsequestrin 2

Synonyms

cCSQ, Csq2, ESTM52, cardiac calsequestrin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101993731-102053830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102052700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 404 (D404G)

Ref Sequence

ENSEMBL: ENSMUSP00000130482 (fasta)

Gene Model

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

AlphaFold

O09161

Predicted Effect

unknown
Transcript: ENSMUST00000029454
AA Change: D401G

SMART Domains

Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: D401G

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

unknown
Transcript: ENSMUST00000165540
AA Change: D404G

SMART Domains

Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: D404G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adcy1	T	C	11: 7,094,766 (GRCm39)	V564A	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Arv1	T	A	8: 125,457,685 (GRCm39)	H196Q	probably damaging	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Chrna5	T	C	9: 54,912,156 (GRCm39)	F319L	probably benign	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ctnnd2	T	C	15: 30,967,037 (GRCm39)	M996T	probably damaging	Het
Dbf4	T	C	5: 8,448,102 (GRCm39)	T328A	unknown	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fat1	T	A	8: 45,463,498 (GRCm39)	W1347R	probably damaging	Het
Fbxw21	A	G	9: 108,986,727 (GRCm39)	F51L	probably benign	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Inpp4b	C	T	8: 82,759,758 (GRCm39)	A601V	probably damaging	Het
Kdm2a	A	G	19: 4,395,606 (GRCm39)	Y342H	probably benign	Het
Kidins220	C	A	12: 25,107,110 (GRCm39)	T1430K	probably benign	Het
Knl1	T	C	2: 118,898,829 (GRCm39)	C177R	possibly damaging	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lama4	T	C	10: 38,973,137 (GRCm39)	L1568P	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or5h23	A	G	16: 58,906,802 (GRCm39)	S15P	probably benign	Het
Or8c19-ps1	C	T	9: 38,220,463 (GRCm39)	T124M	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Raet1e	C	T	10: 22,057,872 (GRCm39)	T213I	possibly damaging	Het
Reln	T	A	5: 22,193,705 (GRCm39)	S1418C	possibly damaging	Het
Reln	T	C	5: 22,285,689 (GRCm39)	S427G	probably benign	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Sorl1	G	T	9: 41,900,739 (GRCm39)	Q1658K	probably damaging	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfp354b	T	A	11: 50,820,256 (GRCm39)	R36S	probably damaging	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
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
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'- TCCTCATTGCAGGCTGACAG -3'
(R):5'- AATGTACCACTCCTGCCAAG -3'

Sequencing Primer
(F):5'- CTCATTGCAGGCTGACAGTATCTG -3'
(R):5'- TGTACCACTCCTGCCAAGAACAG -3'

Posted On

2022-03-25