Mutagenetix > Incidental Mutation

Incidental Mutation 'R3001:Casq2'

257312

Institutional Source

Beutler Lab

Gene Symbol

Casq2

Ensembl Gene

ENSMUSG00000027861

Gene Name

calsequestrin 2

Synonyms

cCSQ, Csq2, ESTM52, cardiac calsequestrin

MMRRC Submission

040530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101993731-102053830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102052517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 269 (D269G)

Ref Sequence

ENSEMBL: ENSMUSP00000131232 (fasta)

Gene Model

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

AlphaFold

O09161

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029454
AA Change: D340G

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: D340G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159833

Predicted Effect

probably damaging
Transcript: ENSMUST00000164123
AA Change: D269G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: D269G

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

possibly damaging
Transcript: ENSMUST00000165540
AA Change: D343G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: D343G

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

Meta Mutation Damage Score

0.8687

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (47/48)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt71	C	T	15: 101,648,906 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sacm1l	T	C	9: 123,414,149 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Xpo7	A	G	14: 70,930,085 (GRCm39)		probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	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
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'- TACTGTGCAAGACCATTTCTGC -3'
(R):5'- GAGCTATTCATCGTCATCATCGTC -3'

Sequencing Primer
(F):5'- GCAAGACCATTTCTGCAACTTGG -3'
(R):5'- GTCATCATCGTCATCATCACTG -3'

Posted On

2015-01-11