Incidental Mutation 'R5132:Calr3'
| ID |
395874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calr3
|
| Ensembl Gene |
ENSMUSG00000019732 |
| Gene Name |
calreticulin 3 |
| Synonyms |
Crt2, 6330586I20Rik, calsperin, 1700031L01Rik |
| MMRRC Submission |
042720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72424176-72443870 bp(-) (GRCm38) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 72431368 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019876]
[ENSMUST00000109974]
|
| AlphaFold |
Q9D9Q6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019876
|
| SMART Domains |
Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
23 |
256 |
5.7e-40 |
PFAM |
|
Pfam:Calreticulin
|
255 |
315 |
6.6e-7 |
PFAM |
|
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109974
|
| SMART Domains |
Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calreticulin
|
23 |
207 |
7.9e-32 |
PFAM |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120752
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with impaired zona pellucida binding and fertilization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
T |
1: 156,641,832 (GRCm38) |
K785* |
probably null |
Het |
| Acad11 |
A |
T |
9: 104,126,592 (GRCm38) |
I628L |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,461,723 (GRCm38) |
I98V |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,563,396 (GRCm38) |
|
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,651,689 (GRCm38) |
V7L |
unknown |
Het |
| Cdc42ep3 |
C |
T |
17: 79,335,374 (GRCm38) |
R39H |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,629,496 (GRCm38) |
Y493C |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,022,408 (GRCm38) |
D66E |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,837,291 (GRCm38) |
D287G |
unknown |
Het |
| Gm8888 |
A |
G |
15: 96,767,011 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr25 |
G |
T |
1: 136,260,365 (GRCm38) |
A170E |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,289,399 (GRCm38) |
Y656C |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 25,065,204 (GRCm38) |
V145I |
probably benign |
Het |
| Htt |
T |
C |
5: 34,905,679 (GRCm38) |
V2885A |
possibly damaging |
Het |
| Larp6 |
A |
G |
9: 60,737,210 (GRCm38) |
E211G |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,683,091 (GRCm38) |
|
probably null |
Het |
| Mtbp |
A |
G |
15: 55,558,569 (GRCm38) |
S63G |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,247,769 (GRCm38) |
S513T |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 25,678,839 (GRCm38) |
D670G |
possibly damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,308,938 (GRCm38) |
M50L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,664,999 (GRCm38) |
Y258N |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,755,270 (GRCm38) |
V138A |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,728,121 (GRCm38) |
V1061A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,796,735 (GRCm38) |
I560T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,110,347 (GRCm38) |
F733L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,072,682 (GRCm38) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,192,117 (GRCm38) |
|
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,723,250 (GRCm38) |
S473T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 34,989,812 (GRCm38) |
|
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,468,204 (GRCm38) |
V1384I |
probably benign |
Het |
| Serpinb6a |
C |
T |
13: 33,918,322 (GRCm38) |
D307N |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,973,173 (GRCm38) |
E255G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,178 (GRCm38) |
|
probably benign |
Het |
| St7 |
A |
T |
6: 17,854,957 (GRCm38) |
I298F |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 121,104,219 (GRCm38) |
F93L |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 32,193,945 (GRCm38) |
D56E |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 111,869,725 (GRCm38) |
M56K |
probably benign |
Het |
|
| Other mutations in Calr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Calr3
|
APN |
8 |
72,431,396 (GRCm38) |
nonsense |
probably null |
|
|
IGL01358:Calr3
|
APN |
8 |
72,427,213 (GRCm38) |
nonsense |
probably null |
|
|
IGL02440:Calr3
|
APN |
8 |
72,431,432 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL02646:Calr3
|
APN |
8 |
72,443,460 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02882:Calr3
|
APN |
8 |
72,434,821 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02945:Calr3
|
APN |
8 |
72,438,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03025:Calr3
|
APN |
8 |
72,434,891 (GRCm38) |
splice site |
probably benign |
|
|
IGL03175:Calr3
|
APN |
8 |
72,443,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0140:Calr3
|
UTSW |
8 |
72,434,888 (GRCm38) |
splice site |
probably benign |
|
|
R1518:Calr3
|
UTSW |
8 |
72,427,200 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1675:Calr3
|
UTSW |
8 |
72,431,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2006:Calr3
|
UTSW |
8 |
72,434,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2111:Calr3
|
UTSW |
8 |
72,427,268 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2202:Calr3
|
UTSW |
8 |
72,434,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2296:Calr3
|
UTSW |
8 |
72,424,625 (GRCm38) |
unclassified |
probably benign |
|
|
R2432:Calr3
|
UTSW |
8 |
72,438,426 (GRCm38) |
unclassified |
probably benign |
|
|
R3946:Calr3
|
UTSW |
8 |
72,443,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4382:Calr3
|
UTSW |
8 |
72,428,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4383:Calr3
|
UTSW |
8 |
72,428,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4384:Calr3
|
UTSW |
8 |
72,428,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4385:Calr3
|
UTSW |
8 |
72,428,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4943:Calr3
|
UTSW |
8 |
72,431,377 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7337:Calr3
|
UTSW |
8 |
72,431,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7879:Calr3
|
UTSW |
8 |
72,424,643 (GRCm38) |
missense |
unknown |
|
|
R8132:Calr3
|
UTSW |
8 |
72,427,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8703:Calr3
|
UTSW |
8 |
72,438,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9064:Calr3
|
UTSW |
8 |
72,434,830 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9314:Calr3
|
UTSW |
8 |
72,424,691 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGCAGCAGTCAGGC -3'
(R):5'- CTACACCCTGATCTTAAGACCAG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGTGCTCAGAGGCAG -3'
(R):5'- AGACCAGATCTTTCTTACGAGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation