Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Casq2'

590042

Institutional Source

Beutler Lab

Gene Symbol

Casq2

Ensembl Gene

ENSMUSG00000027861

Gene Name

calsequestrin 2

Synonyms

ESTM52, cCSQ, cardiac calsequestrin

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102086415-102146514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102086700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000130482 (fasta)

Gene Model

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

AlphaFold

O09161

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029454
AA Change: E21G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029454
Gene: ENSMUSG00000027861
AA Change: E21G

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 damaging
Transcript: ENSMUST00000164123
AA Change: E21G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131232
Gene: ENSMUSG00000027861
AA Change: E21G

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: E21G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130482
Gene: ENSMUSG00000027861
AA Change: E21G

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

0.2534

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly damaging	Het

Other mutations in Casq2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Casq2	APN	3	102110231	splice site	probably benign
IGL02597:Casq2	APN	3	102126637	missense	probably damaging	1.00
IGL02863:Casq2	APN	3	102144175	missense	possibly damaging	0.84
IGL02902:Casq2	APN	3	102086797	nonsense	probably null
IGL03176:Casq2	APN	3	102126654	missense	possibly damaging	0.50
R0126:Casq2	UTSW	3	102133399	missense	probably damaging	1.00
R0653:Casq2	UTSW	3	102113166	critical splice donor site	probably null
R1036:Casq2	UTSW	3	102142215	missense	probably damaging	1.00
R1052:Casq2	UTSW	3	102144234	splice site	probably null
R1158:Casq2	UTSW	3	102116883	missense	probably damaging	1.00
R2886:Casq2	UTSW	3	102144218	missense	probably damaging	1.00
R3001:Casq2	UTSW	3	102145201	missense	probably damaging	0.99
R3002:Casq2	UTSW	3	102145201	missense	probably damaging	0.99
R4155:Casq2	UTSW	3	102133102	splice site	probably null
R4715:Casq2	UTSW	3	102110244	missense	probably benign	0.00
R6013:Casq2	UTSW	3	102145629	splice site	probably null
R6778:Casq2	UTSW	3	102127931	splice site	probably null
R6836:Casq2	UTSW	3	102086760	missense	probably damaging	1.00
R6844:Casq2	UTSW	3	102110262	missense	possibly damaging	0.70
R7055:Casq2	UTSW	3	102142245	missense	probably damaging	1.00
R7761:Casq2	UTSW	3	102145264	missense	probably damaging	1.00
R7997:Casq2	UTSW	3	102086842	missense	probably damaging	0.98
R8169:Casq2	UTSW	3	102110312	missense	possibly damaging	0.69
R9060:Casq2	UTSW	3	102145303	missense	unknown
R9303:Casq2	UTSW	3	102145384	missense	unknown
R9305:Casq2	UTSW	3	102145384	missense	unknown
R9600:Casq2	UTSW	3	102145306	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATGTGTGCATTTGAGCCTCC -3'
(R):5'- CCAGTACAATCTCCTTCAGCTG -3'

Sequencing Primer
(F):5'- GAGCCTCCACAGTTTGTTCTGAG -3'
(R):5'- AGTACAATCTCCTTCAGCTGGAACTG -3'

Posted On

2019-10-24