Incidental Mutation 'IGL01918:Calr'
ID 180029
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 # IGL01918
Quality Score
Status
Chromosome 8
Chromosomal Location 85568717-85573560 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 85569479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: ENSMUST00000154774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134395
Predicted Effect probably benign
Transcript: ENSMUST00000144675
SMART Domains Protein: ENSMUSP00000114431
Gene: ENSMUSG00000003813

DomainStartEndE-ValueType
SCOP:d1ifya_ 2 18 3e-3 SMART
STI1 44 87 5.7e-8 SMART
low complexity region 111 122 N/A INTRINSIC
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,097,098 (GRCm39) Q71R probably benign Het
Ankfy1 T C 11: 72,631,281 (GRCm39) V409A probably benign Het
Ap4m1 A G 5: 138,171,106 (GRCm39) T69A probably damaging Het
B3gat2 A T 1: 23,884,209 (GRCm39) K306* probably null Het
Ccdc54 C T 16: 50,411,215 (GRCm39) W17* probably null Het
Cd68 T C 11: 69,555,927 (GRCm39) S204G possibly damaging Het
Cep128 A T 12: 91,200,984 (GRCm39) I342K probably damaging Het
Ces1d T A 8: 93,904,703 (GRCm39) I346L probably benign Het
Cfap70 T A 14: 20,475,467 (GRCm39) D418V possibly damaging Het
Cntnap4 A T 8: 113,478,866 (GRCm39) R197S possibly damaging Het
Ddx31 G T 2: 28,764,176 (GRCm39) V461F probably damaging Het
Eps15l1 T C 8: 73,121,756 (GRCm39) M714V possibly damaging Het
Fshb A T 2: 106,889,272 (GRCm39) F11I probably benign Het
Fsip2 T G 2: 82,822,482 (GRCm39) C6072G possibly damaging Het
Fuz T G 7: 44,546,383 (GRCm39) L93R 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
Gm8991 G A 5: 16,935,678 (GRCm39) noncoding transcript Het
Itga11 C A 9: 62,680,278 (GRCm39) N973K probably benign Het
Lca5 T A 9: 83,305,201 (GRCm39) T202S probably damaging Het
Lrp1 G A 10: 127,390,458 (GRCm39) L3053F probably damaging Het
Mapk13 T C 17: 28,994,304 (GRCm39) Y129H probably damaging Het
Mast1 T A 8: 85,647,838 (GRCm39) H512L probably damaging Het
Mlip T C 9: 77,081,281 (GRCm39) N213S probably damaging Het
Mtcl1 C T 17: 66,675,263 (GRCm39) G734R possibly damaging Het
Myo9a T A 9: 59,686,985 (GRCm39) I30N probably damaging Het
Or4b13 A G 2: 90,082,675 (GRCm39) I219T probably damaging Het
Pctp T C 11: 89,878,162 (GRCm39) D124G probably benign Het
Phc3 A G 3: 30,968,565 (GRCm39) probably null Het
Plat T A 8: 23,270,453 (GRCm39) F457I possibly damaging Het
Snw1 T C 12: 87,502,438 (GRCm39) K319E probably benign Het
Sox8 A G 17: 25,789,111 (GRCm39) L129P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stc1 A T 14: 69,269,103 (GRCm39) probably benign Het
Szt2 A G 4: 118,241,450 (GRCm39) probably benign Het
Tmem81 T A 1: 132,435,698 (GRCm39) V168D probably damaging Het
Ttc41 C A 10: 86,549,054 (GRCm39) Q83K probably damaging Het
Ugt1a5 T C 1: 88,094,267 (GRCm39) V165A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b A G 7: 79,937,560 (GRCm39) probably null Het
Zap70 T C 1: 36,817,868 (GRCm39) Y290H possibly 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
IGL01910:Calr APN 8 85,571,598 (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