Incidental Mutation 'IGL03090:Calr'
ID 418353
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 # IGL03090
Quality Score
Status
Chromosome 8
Chromosomal Location 85568717-85573560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85573373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 19 (P19S)
Ref Sequence ENSEMBL: ENSMUSP00000003912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003912]
AlphaFold P14211
PDB Structure Crystal structure of the calreticulin lectin domain [X-RAY DIFFRACTION]
Structural basis of carbohydrate recognition by calreticulin [X-RAY DIFFRACTION]
Structural basis of carbohydrate recognition by calreticulin [X-RAY DIFFRACTION]
Structural and functional relationships between the lectin and arm domains of calreticulin [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003912
AA Change: P19S

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814
AA Change: P19S

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 noncoding transcript
Transcript: ENSMUST00000125998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154774
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,247,965 (GRCm39) Y25C probably benign Het
Agap3 A C 5: 24,706,204 (GRCm39) T823P possibly damaging Het
Arap3 T C 18: 38,122,165 (GRCm39) E641G probably benign Het
Armc6 C T 8: 70,684,004 (GRCm39) R16Q probably benign Het
Asb15 T A 6: 24,567,185 (GRCm39) I502K possibly damaging Het
Atp8b3 T A 10: 80,366,438 (GRCm39) N275I probably damaging Het
Cdc6 T A 11: 98,810,122 (GRCm39) L477* probably null Het
Clba1 T C 12: 112,779,340 (GRCm39) probably null Het
Cnnm4 A G 1: 36,510,952 (GRCm39) D60G probably benign Het
Col12a1 G T 9: 79,585,652 (GRCm39) Q1242K probably damaging Het
Dusp18 T A 11: 3,847,466 (GRCm39) I152N probably damaging Het
Eef1akmt1 T C 14: 57,795,543 (GRCm39) T69A probably damaging Het
Efhb T C 17: 53,769,958 (GRCm39) Q117R probably benign Het
Fancd2 T A 6: 113,514,558 (GRCm39) probably null Het
Fat3 C T 9: 16,288,535 (GRCm39) W329* probably null Het
Frem3 A G 8: 81,344,858 (GRCm39) Y1727C probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gatb C A 3: 85,526,330 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,809 (GRCm39) S77T probably damaging Het
Gramd1c A T 16: 43,802,463 (GRCm39) D649E probably benign Het
Herc2 T A 7: 55,854,221 (GRCm39) L3745H probably damaging Het
Klk1b11 T A 7: 43,426,977 (GRCm39) M87K probably benign Het
Krt39 T G 11: 99,409,833 (GRCm39) probably benign Het
Lamc3 T A 2: 31,798,710 (GRCm39) probably benign Het
Lars2 T G 9: 123,285,025 (GRCm39) M786R probably damaging Het
Lmcd1 T A 6: 112,287,460 (GRCm39) S49T probably benign Het
Lrba T C 3: 86,680,448 (GRCm39) Y2689H probably benign Het
Map3k6 T C 4: 132,970,677 (GRCm39) V188A probably benign Het
Mbd6 A C 10: 127,123,013 (GRCm39) L49W probably damaging Het
Myo5a A T 9: 75,028,115 (GRCm39) Y100F probably damaging Het
Myo9a T A 9: 59,801,418 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,538,396 (GRCm39) D663G probably damaging Het
Nup214 A T 2: 31,908,254 (GRCm39) M1075L probably benign Het
Pkd1l3 C A 8: 110,382,165 (GRCm39) Y240* probably null Het
Pomk T A 8: 26,473,338 (GRCm39) N205I probably damaging Het
Sdr16c5 A G 4: 4,006,575 (GRCm39) probably benign Het
Setd1a A G 7: 127,385,672 (GRCm39) E250G possibly damaging Het
Slc26a6 A G 9: 108,737,890 (GRCm39) E541G probably benign Het
Slc4a3 A G 1: 75,531,661 (GRCm39) E876G probably benign Het
Srrm4 A G 5: 116,587,643 (GRCm39) probably benign Het
Stx12 A G 4: 132,590,540 (GRCm39) V119A probably benign Het
Tmem8b T A 4: 43,689,721 (GRCm39) S333T probably damaging Het
Usp31 T C 7: 121,278,753 (GRCm39) probably benign Het
Utp18 T C 11: 93,759,245 (GRCm39) R410G probably damaging Het
Vmn1r172 T C 7: 23,359,463 (GRCm39) I116T probably damaging Het
Vwa8 T A 14: 79,172,041 (GRCm39) L274Q possibly damaging Het
Wdfy3 A T 5: 102,014,142 (GRCm39) F2655I probably damaging Het
Zfp423 A T 8: 88,508,071 (GRCm39) Y737N probably damaging Het
Zyx C A 6: 42,334,276 (GRCm39) S500* probably null 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
IGL01910:Calr APN 8 85,571,598 (GRCm39) unclassified probably benign
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
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 2016-08-02