Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Calr'

306186

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 #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

85568717-85573560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85571117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 236 (W236G)

Ref Sequence

ENSEMBL: ENSMUSP00000003912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003911] [ENSMUST00000003912] [ENSMUST00000109761] [ENSMUST00000128035]

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

probably benign
Transcript: ENSMUST00000003911

SMART Domains

Protein: ENSMUSP00000003911
Gene: ENSMUSG00000003813

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000003912
AA Change: W236G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814
AA Change: W236G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000141347

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104M06Rik	T	C	12: 112,963,795 (GRCm39)	D61G	probably benign	Het
Albfm1	T	C	5: 90,719,624 (GRCm39)	V240A	possibly damaging	Het
Ascc2	G	A	11: 4,590,481 (GRCm39)		probably null	Het
Atrn	C	T	2: 130,812,064 (GRCm39)	Q670*	probably null	Het
Atrn	G	T	2: 130,789,654 (GRCm39)		probably benign	Het
Camk2g	T	A	14: 20,816,084 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,927,715 (GRCm39)	T122K	probably damaging	Het
Cert1	T	A	13: 96,765,643 (GRCm39)	N469K	possibly damaging	Het
Cryl1	T	C	14: 57,541,181 (GRCm39)	T168A	probably benign	Het
Diaph3	A	G	14: 87,156,261 (GRCm39)	I684T	probably damaging	Het
Ednrb	A	T	14: 104,060,495 (GRCm39)	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,668,146 (GRCm39)	D3G	probably damaging	Het
Eny2	C	T	15: 44,293,031 (GRCm39)	R28C	possibly damaging	Het
Epsti1	A	G	14: 78,177,363 (GRCm39)	E181G	probably damaging	Het
Ezh2	A	G	6: 47,510,698 (GRCm39)	F598S	probably damaging	Het
Fat3	G	T	9: 15,918,007 (GRCm39)	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,795,490 (GRCm39)	I262F	probably benign	Het
Gpat4	A	T	8: 23,670,886 (GRCm39)	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,229,687 (GRCm39)	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,585,097 (GRCm39)	V36I	possibly damaging	Het
Hip1	T	C	5: 135,473,605 (GRCm39)	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,369,420 (GRCm39)	M1K	probably null	Het
Irx2	G	A	13: 72,779,429 (GRCm39)	D238N	probably damaging	Het
Kcnip4	T	A	5: 48,567,127 (GRCm39)		probably benign	Het
Lair1	G	A	7: 4,031,900 (GRCm39)	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,125,599 (GRCm39)	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,862,580 (GRCm39)	E639K	probably benign	Het
Mc4r	A	G	18: 66,992,733 (GRCm39)	S127P	probably damaging	Het
Mmp23	A	G	4: 155,735,989 (GRCm39)	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,737,887 (GRCm39)	S587P	possibly damaging	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Nek9	C	A	12: 85,352,281 (GRCm39)	A861S	probably benign	Het
Nup155	T	A	15: 8,163,560 (GRCm39)	Y576N	probably damaging	Het
Or5w10	C	T	2: 87,375,001 (GRCm39)	V296M	probably damaging	Het
Pcca	A	T	14: 122,771,800 (GRCm39)	T8S	probably benign	Het
Pcdh15	A	G	10: 74,466,900 (GRCm39)	D1573G	probably benign	Het
Pdpr	T	A	8: 111,844,722 (GRCm39)	V373E	probably benign	Het
Pdzph1	A	T	17: 59,239,478 (GRCm39)	L950Q	possibly damaging	Het
Pira13	A	G	7: 3,825,624 (GRCm39)	I415T	probably damaging	Het
Prss35	A	C	9: 86,638,297 (GRCm39)	K356Q	probably damaging	Het
Psg22	A	T	7: 18,456,944 (GRCm39)	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,430,703 (GRCm39)	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,613,112 (GRCm39)		probably benign	Het
Slc35b2	G	A	17: 45,877,493 (GRCm39)	V207I	probably benign	Het
Sparcl1	T	G	5: 104,240,746 (GRCm39)	E226A	possibly damaging	Het
Srms	C	A	2: 180,851,302 (GRCm39)	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,636,917 (GRCm39)	I44N	probably damaging	Het
Tmem236	C	T	2: 14,224,132 (GRCm39)	T307M	probably damaging	Het
Ush2a	C	T	1: 188,679,155 (GRCm39)	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,305,716 (GRCm39)	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,947,122 (GRCm39)	*121R	probably null	Het

Other mutations in Calr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16