Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02858:Calr'

362029

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 #

IGL02858

Quality Score

Status

Chromosome

Chromosomal Location

85568717-85573560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85571528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 155 (V155E)

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 benign
Transcript: ENSMUST00000003912
AA Change: V155E

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814
AA Change: V155E

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,596,599 (GRCm39)	V126A	probably damaging	Het
Akap9	T	C	5: 4,119,130 (GRCm39)	Y3546H	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arhgap45	C	A	10: 79,853,768 (GRCm39)	T94N	probably benign	Het
Arid1b	T	C	17: 5,392,166 (GRCm39)	S1899P	possibly damaging	Het
Atad5	T	A	11: 79,980,601 (GRCm39)	V2E	probably damaging	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cetn1	T	C	18: 9,619,422 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,618,949 (GRCm39)	L6F	probably damaging	Het
Chrnb1	C	T	11: 69,675,935 (GRCm39)	V436I	possibly damaging	Het
Col4a4	T	C	1: 82,506,204 (GRCm39)	E292G	unknown	Het
Ddx56	A	G	11: 6,217,667 (GRCm39)	L18P	probably damaging	Het
Dhx36	A	C	3: 62,384,797 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,453,358 (GRCm39)	R4376S	possibly damaging	Het
Dnah6	T	A	6: 73,185,582 (GRCm39)	D113V	probably benign	Het
Dnah7a	A	G	1: 53,512,118 (GRCm39)		probably benign	Het
Dock7	T	A	4: 98,833,442 (GRCm39)	K1920*	probably null	Het
Dysf	A	G	6: 84,076,471 (GRCm39)	D628G	probably benign	Het
Exoc3l2	A	G	7: 19,229,109 (GRCm39)	I176V	probably benign	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Fzd4	C	T	7: 89,057,162 (GRCm39)	T403M	probably damaging	Het
Gpr171	A	T	3: 59,005,288 (GRCm39)	N162K	probably benign	Het
Impdh1	T	A	6: 29,206,924 (GRCm39)	K132*	probably null	Het
Itgb2l	A	T	16: 96,223,850 (GRCm39)	W730R	possibly damaging	Het
Jmjd8	T	C	17: 26,049,134 (GRCm39)	F230S	probably damaging	Het
Krt72	G	A	15: 101,690,556 (GRCm39)	T232M	probably damaging	Het
Lpin3	T	C	2: 160,740,540 (GRCm39)		probably benign	Het
Nup214	A	C	2: 31,900,384 (GRCm39)		probably benign	Het
Or11g7	A	T	14: 50,690,507 (GRCm39)		probably benign	Het
Or7d10	A	G	9: 19,831,747 (GRCm39)	M81V	probably damaging	Het
Or8c20	A	G	9: 38,260,469 (GRCm39)	Q24R	probably benign	Het
Or8g26	A	G	9: 39,095,822 (GRCm39)	Y113C	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Sall3	G	T	18: 81,012,728 (GRCm39)	A1236E	probably damaging	Het
Sipa1	T	C	19: 5,705,736 (GRCm39)	T411A	probably damaging	Het
Thsd7a	T	G	6: 12,500,994 (GRCm39)	D471A	probably benign	Het
Tm2d1	T	A	4: 98,263,192 (GRCm39)	E100D	probably damaging	Het
Tmcc1	A	G	6: 116,110,849 (GRCm39)	V148A	probably damaging	Het
Tubgcp6	A	T	15: 88,986,518 (GRCm39)	Y19*	probably null	Het
Ubr3	A	G	2: 69,783,203 (GRCm39)	Y713C	probably damaging	Het
Uevld	A	G	7: 46,605,377 (GRCm39)	V39A	probably benign	Het
Vmn2r28	A	T	7: 5,484,003 (GRCm39)	H732Q	probably damaging	Het
Zfp629	A	T	7: 127,209,484 (GRCm39)	F775Y	probably damaging	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
IGL02749:Calr	APN	8	85,571,117 (GRCm39)	missense	probably damaging	1.00
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

2015-12-18