Incidental Mutation 'IGL01910:Calr'
ID 179791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calr
Ensembl Gene ENSMUSG00000003814
Gene Name calreticulin
Synonyms Calregulin, CRT
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01910
Quality Score
Status
Chromosome 8
Chromosomal Location 85568717-85573560 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 85571598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003911] [ENSMUST00000003912] [ENSMUST00000109761] [ENSMUST00000128035]
AlphaFold P14211
Predicted Effect probably benign
Transcript: ENSMUST00000003911
SMART Domains Protein: ENSMUSP00000003911
Gene: ENSMUSG00000003813

DomainStartEndE-ValueType
UBQ 3 77 3.28e-23 SMART
low complexity region 123 151 N/A INTRINSIC
UBA 163 200 8.76e-11 SMART
STI1 229 272 5.7e-8 SMART
low complexity region 296 307 N/A INTRINSIC
UBA 319 356 9.11e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000003912
SMART Domains Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Calreticulin 23 258 2.7e-64 PFAM
Pfam:Calreticulin 257 332 3.3e-24 PFAM
low complexity region 358 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109761
SMART Domains Protein: ENSMUSP00000105383
Gene: ENSMUSG00000003813

DomainStartEndE-ValueType
UBQ 3 77 3.28e-23 SMART
low complexity region 123 151 N/A INTRINSIC
UBA 163 200 8.76e-11 SMART
STI1 230 273 5.7e-8 SMART
low complexity region 297 308 N/A INTRINSIC
UBA 320 357 9.11e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128028
Predicted Effect probably benign
Transcript: ENSMUST00000128035
SMART Domains Protein: ENSMUSP00000115664
Gene: ENSMUSG00000003813

DomainStartEndE-ValueType
UBQ 3 77 3.28e-23 SMART
low complexity region 123 151 N/A INTRINSIC
UBA 163 200 8.76e-11 SMART
STI1 230 273 5.7e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147538
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit decreased cardiac cell mass, increased apoptosis of cardiac myocytes, neural tube defects (sometimes associated with exencephaly), omphalocele, and mid- to late-gestational lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l A G 18: 31,904,995 (GRCm39) M79V probably benign Het
Arhgap5 T A 12: 52,563,644 (GRCm39) V205E probably benign Het
BC061237 T C 14: 44,743,445 (GRCm39) probably benign Het
Celsr1 T C 15: 85,814,096 (GRCm39) N1942S probably benign Het
Cfap100 T C 6: 90,386,606 (GRCm39) D373G probably damaging Het
Chst9 C A 18: 15,585,931 (GRCm39) A211S possibly damaging Het
Ephb1 T C 9: 101,879,056 (GRCm39) E478G probably benign Het
Fbrsl1 A T 5: 110,511,602 (GRCm39) V387D probably damaging Het
Fxyd5 T C 7: 30,734,643 (GRCm39) I161V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hmx2 C T 7: 131,157,401 (GRCm39) R172C probably damaging Het
Itgam C T 7: 127,682,948 (GRCm39) A320V probably damaging Het
Macrod2 T A 2: 142,138,485 (GRCm39) N361K probably benign Het
Mbl1 T C 14: 40,875,703 (GRCm39) probably null Het
Nudt9 G A 5: 104,202,175 (GRCm39) G79R probably damaging Het
Ppan C T 9: 20,802,232 (GRCm39) R208C probably damaging Het
Rpl23a-ps1 A G 1: 46,020,940 (GRCm39) noncoding transcript Het
Slc17a1 A G 13: 24,062,440 (GRCm39) probably benign Het
Tep1 T C 14: 51,081,569 (GRCm39) T1269A probably benign Het
Vmn2r16 A T 5: 109,487,951 (GRCm39) N275Y probably damaging Het
Wdr93 T C 7: 79,421,321 (GRCm39) S405P probably damaging Het
Xcl1 T A 1: 164,759,458 (GRCm39) I81F probably damaging Het
Other mutations in Calr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Calr APN 8 85,571,373 (GRCm39) missense possibly damaging 0.89
IGL00648:Calr APN 8 85,569,331 (GRCm39) unclassified probably benign
IGL01309:Calr APN 8 85,573,335 (GRCm39) critical splice donor site probably null
IGL01918:Calr APN 8 85,569,479 (GRCm39) unclassified probably benign
IGL02399:Calr APN 8 85,569,415 (GRCm39) unclassified probably benign
IGL02749:Calr APN 8 85,571,117 (GRCm39) missense probably damaging 1.00
IGL02858:Calr APN 8 85,571,528 (GRCm39) missense probably benign 0.07
IGL03090:Calr APN 8 85,573,373 (GRCm39) missense possibly damaging 0.82
K3955:Calr UTSW 8 85,572,902 (GRCm39) missense probably damaging 1.00
R0309:Calr UTSW 8 85,569,660 (GRCm39) missense probably benign 0.43
R1670:Calr UTSW 8 85,570,748 (GRCm39) missense probably benign 0.24
R1974:Calr UTSW 8 85,570,786 (GRCm39) missense probably benign
R6864:Calr UTSW 8 85,571,557 (GRCm39) missense probably damaging 0.98
R7120:Calr UTSW 8 85,569,457 (GRCm39) missense probably damaging 0.98
R9320:Calr UTSW 8 85,572,629 (GRCm39) nonsense probably null
Z1176:Calr UTSW 8 85,570,693 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07