Incidental Mutation 'IGL02399:Calr'
| ID |
291802 |
| 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)
|
| Stock # |
IGL02399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85568717-85573560 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 85569415 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
| 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 |
unknown
Transcript: ENSMUST00000003912
AA Change: E371G
|
| SMART Domains |
Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814
AA Change: E371G
| 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: ENSMUST00000134395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144675
|
| SMART Domains |
Protein: ENSMUSP00000114431
Gene: ENSMUSG00000003813
| Domain | Start | End | E-Value | Type |
|---|
|
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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
C |
T |
2: 150,700,413 (GRCm39) |
|
probably benign |
Het |
| Adarb1 |
G |
A |
10: 77,131,588 (GRCm39) |
P624S |
probably benign |
Het |
| Afg3l2 |
A |
T |
18: 67,562,110 (GRCm39) |
F322I |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,381,831 (GRCm39) |
|
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,259,751 (GRCm39) |
N1114S |
probably damaging |
Het |
| C3ar1 |
T |
C |
6: 122,826,838 (GRCm39) |
N460D |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,279,493 (GRCm39) |
Y1988H |
probably damaging |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,529 (GRCm39) |
S289P |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,081,596 (GRCm39) |
|
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,845,936 (GRCm39) |
|
probably benign |
Het |
| Gm3739 |
A |
T |
14: 18,505,274 (GRCm39) |
D83E |
possibly damaging |
Het |
| Gm5420 |
A |
T |
10: 21,567,071 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,135,396 (GRCm39) |
V245A |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,861,038 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,735,661 (GRCm39) |
C86R |
probably damaging |
Het |
| Lrr1 |
T |
A |
12: 69,215,665 (GRCm39) |
C12* |
probably null |
Het |
| Mcf2 |
T |
C |
X: 59,180,812 (GRCm39) |
D255G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,174,771 (GRCm39) |
|
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,364,406 (GRCm39) |
T735M |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,809 (GRCm39) |
A196T |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,838 (GRCm39) |
I60V |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,285,719 (GRCm39) |
Q215K |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,513 (GRCm39) |
S117T |
probably benign |
Het |
| P2rx3 |
T |
C |
2: 84,853,571 (GRCm39) |
I140V |
probably benign |
Het |
| Patj |
A |
G |
4: 98,480,173 (GRCm39) |
N1293D |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,278,821 (GRCm39) |
|
probably benign |
Het |
| Ppp1r26 |
T |
G |
2: 28,343,292 (GRCm39) |
V974G |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,116,973 (GRCm39) |
L1376* |
probably null |
Het |
| Rab33a |
T |
A |
X: 47,608,584 (GRCm39) |
I36N |
probably damaging |
Het |
| Rab3gap1 |
A |
T |
1: 127,855,840 (GRCm39) |
N493I |
possibly damaging |
Het |
| Scara3 |
C |
A |
14: 66,170,559 (GRCm39) |
G107* |
probably null |
Het |
| Siglec1 |
T |
C |
2: 130,913,098 (GRCm39) |
E1606G |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,246,447 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,253,884 (GRCm39) |
I185N |
probably damaging |
Het |
| Slc47a2 |
C |
A |
11: 61,193,020 (GRCm39) |
|
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,639,711 (GRCm39) |
I506V |
probably damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,639,942 (GRCm39) |
I245L |
probably benign |
Het |
| Smarcb1 |
T |
C |
10: 75,733,328 (GRCm39) |
T357A |
probably damaging |
Het |
| Spata31d1d |
A |
G |
13: 59,877,954 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,639,573 (GRCm39) |
I874F |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,050 (GRCm39) |
I72F |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,129 (GRCm39) |
V605I |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,301 (GRCm39) |
L34P |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,949,204 (GRCm39) |
V532A |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,973,209 (GRCm39) |
D795E |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,913 (GRCm39) |
I288F |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,615,093 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,993,329 (GRCm39) |
F615L |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,137 (GRCm39) |
I370V |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation