Incidental Mutation 'R5002:Casq1'
ID 389980
Institutional Source Beutler Lab
Gene Symbol Casq1
Ensembl Gene ENSMUSG00000007122
Gene Name calsequestrin 1
Synonyms CSQ-1, CSQ, sCSQ, CSQ1
MMRRC Submission 042596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5002 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 172037461-172047435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172040945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 281 (D281V)
Ref Sequence ENSEMBL: ENSMUSP00000003554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000170700]
AlphaFold O09165
Predicted Effect possibly damaging
Transcript: ENSMUST00000003554
AA Change: D281V

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: D281V

DomainStartEndE-ValueType
Pfam:Calsequestrin 11 402 5.3e-238 PFAM
Pfam:Thioredoxin_6 186 379 2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170638
Predicted Effect probably benign
Transcript: ENSMUST00000170700
SMART Domains Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122

DomainStartEndE-ValueType
Pfam:Calsequestrin 11 94 9.7e-38 PFAM
Pfam:Calsequestrin 89 156 6.9e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171429
Meta Mutation Damage Score 0.4825 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 94% (44/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene exhibit structural alterations of the Ca2+ release units, an increased frequency of mitochondria, and significantly impaired calcium handling in skeletal muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,852,623 (GRCm39) P736S probably damaging Het
Apbb2 A G 5: 66,470,668 (GRCm39) I523T possibly damaging Het
Catsperb T C 12: 101,486,813 (GRCm39) F447L probably benign Het
Cenpe A T 3: 134,952,842 (GRCm39) M1511L probably benign Het
Cep128 T C 12: 91,222,497 (GRCm39) probably null Het
Col6a6 T C 9: 105,663,292 (GRCm39) T82A probably benign Het
Dna2 A G 10: 62,786,621 (GRCm39) D123G probably damaging Het
Ergic2 A G 6: 148,085,656 (GRCm39) I281T probably benign Het
Fcgbp T A 7: 27,785,528 (GRCm39) probably null Het
Filip1l T C 16: 57,391,466 (GRCm39) Y447H probably benign Het
Flnb T A 14: 7,945,882 (GRCm38) M2429K probably damaging Het
Fn1 T A 1: 71,668,887 (GRCm39) Q686L possibly damaging Het
Gm10644 T C 8: 84,660,216 (GRCm39) D43G possibly damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gpx6 A G 13: 21,497,858 (GRCm39) Y43C probably damaging Het
Hhat A T 1: 192,225,498 (GRCm39) F494I probably benign Het
Itga9 C A 9: 118,492,966 (GRCm39) S287* probably null Het
Lrrk1 C A 7: 65,982,111 (GRCm39) G177W probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Ms4a14 T C 19: 11,281,653 (GRCm39) I302V probably benign Het
Nepn A C 10: 52,267,850 (GRCm39) M39L probably benign Het
Nfil3 C A 13: 53,122,712 (GRCm39) R64L probably damaging Het
Ociad1 T C 5: 73,467,659 (GRCm39) V199A possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Or8k3b C A 2: 86,520,429 (GRCm39) V297L possibly damaging Het
Polk A G 13: 96,625,752 (GRCm39) Y431H probably damaging Het
Prss33 C T 17: 24,054,332 (GRCm39) probably benign Het
Semp2l2b G C 10: 21,943,716 (GRCm39) P88R probably damaging Het
Slc12a7 A G 13: 73,911,896 (GRCm39) N4S possibly damaging Het
Slc29a4 A T 5: 142,704,501 (GRCm39) I348F probably damaging Het
Smarce1 T C 11: 99,115,889 (GRCm39) N44S probably damaging Het
Spast C T 17: 74,676,221 (GRCm39) Q344* probably null Het
Stk11ip C A 1: 75,509,187 (GRCm39) probably benign Het
Tas2r131 T C 6: 132,934,114 (GRCm39) I232V probably benign Het
Tesk1 T C 4: 43,444,573 (GRCm39) Y126H probably damaging Het
Tmpo A G 10: 90,999,976 (GRCm39) V164A possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vwc2l T G 1: 70,768,205 (GRCm39) C43G probably damaging Het
Wnk1 G A 6: 119,914,924 (GRCm39) T1626I probably benign Het
Zpld2 T A 4: 133,924,231 (GRCm39) N438I probably benign Het
Other mutations in Casq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02165:Casq1 APN 1 172,040,948 (GRCm39) missense probably damaging 0.96
IGL02699:Casq1 APN 1 172,047,263 (GRCm39) start gained probably benign
IGL02756:Casq1 APN 1 172,042,672 (GRCm39) missense probably damaging 1.00
PIT4377001:Casq1 UTSW 1 172,039,568 (GRCm39) missense probably benign 0.15
R0026:Casq1 UTSW 1 172,046,967 (GRCm39) splice site probably benign
R0026:Casq1 UTSW 1 172,046,967 (GRCm39) splice site probably benign
R0124:Casq1 UTSW 1 172,037,992 (GRCm39) missense probably damaging 1.00
R0485:Casq1 UTSW 1 172,037,957 (GRCm39) unclassified probably benign
R1982:Casq1 UTSW 1 172,043,097 (GRCm39) missense probably damaging 1.00
R2095:Casq1 UTSW 1 172,043,529 (GRCm39) missense probably benign 0.26
R2097:Casq1 UTSW 1 172,037,988 (GRCm39) missense probably damaging 1.00
R3940:Casq1 UTSW 1 172,047,103 (GRCm39) missense possibly damaging 0.91
R4654:Casq1 UTSW 1 172,037,965 (GRCm39) unclassified probably benign
R4790:Casq1 UTSW 1 172,044,404 (GRCm39) missense probably damaging 1.00
R5187:Casq1 UTSW 1 172,040,641 (GRCm39) missense possibly damaging 0.54
R5307:Casq1 UTSW 1 172,046,983 (GRCm39) missense probably damaging 1.00
R5973:Casq1 UTSW 1 172,047,068 (GRCm39) missense probably damaging 1.00
R6251:Casq1 UTSW 1 172,044,407 (GRCm39) missense probably benign 0.17
R6768:Casq1 UTSW 1 172,047,245 (GRCm39) missense probably benign 0.04
R7380:Casq1 UTSW 1 172,044,416 (GRCm39) missense probably benign 0.07
R9014:Casq1 UTSW 1 172,038,064 (GRCm39) missense probably damaging 1.00
R9292:Casq1 UTSW 1 172,043,114 (GRCm39) missense probably damaging 1.00
R9739:Casq1 UTSW 1 172,043,051 (GRCm39) missense possibly damaging 0.93
Z1176:Casq1 UTSW 1 172,043,481 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATAGCCATCTTGGAGGGAGC -3'
(R):5'- CCTAGAGCAGAAAGGATGCC -3'

Sequencing Primer
(F):5'- GGAAATGAGTCCAGACCTATTTCC -3'
(R):5'- GGATGCCATTAGAAAAGTCACC -3'
Posted On 2016-06-06