Incidental Mutation 'R4383:Calr3'
| ID |
371164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calr3
|
| Ensembl Gene |
ENSMUSG00000019732 |
| Gene Name |
calreticulin 3 |
| Synonyms |
6330586I20Rik, calsperin, 1700031L01Rik, Crt2 |
| MMRRC Submission |
041123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4383 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73178020-73197638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73182008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 120
(D120V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019876]
[ENSMUST00000109974]
|
| AlphaFold |
Q9D9Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019876
AA Change: D228V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: D228V
| 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 damaging
Transcript: ENSMUST00000109974
AA Change: D120V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732
AA Change: D120V
| 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 |
0.7187 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
89% (32/36) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arih2 |
T |
G |
9: 108,521,476 (GRCm39) |
M1L |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,618,932 (GRCm39) |
T75A |
probably damaging |
Het |
| Baat |
C |
T |
4: 49,499,731 (GRCm39) |
A192T |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,081 (GRCm39) |
I552V |
probably benign |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Des |
T |
C |
1: 75,337,413 (GRCm39) |
F118L |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,280,128 (GRCm39) |
S130P |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,920,305 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Inmt |
C |
A |
6: 55,148,203 (GRCm39) |
C142F |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,060 (GRCm39) |
D1228E |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Msh2 |
G |
A |
17: 87,996,566 (GRCm39) |
E425K |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,043 (GRCm39) |
Y60H |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,992,161 (GRCm39) |
D326G |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,683 (GRCm39) |
K1272R |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,267,606 (GRCm39) |
A264T |
probably damaging |
Het |
| Ubr2 |
G |
C |
17: 47,250,313 (GRCm39) |
H1545D |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,678,529 (GRCm39) |
C1151S |
probably damaging |
Het |
| Zap70 |
C |
T |
1: 36,820,042 (GRCm39) |
R471W |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
T |
7: 12,227,928 (GRCm39) |
Y625F |
probably damaging |
Het |
|
| Other mutations in Calr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Calr3
|
APN |
8 |
73,185,240 (GRCm39) |
nonsense |
probably null |
|
|
IGL01358:Calr3
|
APN |
8 |
73,181,057 (GRCm39) |
nonsense |
probably null |
|
|
IGL02440:Calr3
|
APN |
8 |
73,185,276 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02646:Calr3
|
APN |
8 |
73,197,304 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02882:Calr3
|
APN |
8 |
73,188,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02945:Calr3
|
APN |
8 |
73,192,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Calr3
|
APN |
8 |
73,188,735 (GRCm39) |
splice site |
probably benign |
|
|
IGL03175:Calr3
|
APN |
8 |
73,197,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Calr3
|
UTSW |
8 |
73,188,732 (GRCm39) |
splice site |
probably benign |
|
|
R1518:Calr3
|
UTSW |
8 |
73,181,044 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1675:Calr3
|
UTSW |
8 |
73,185,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Calr3
|
UTSW |
8 |
73,188,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Calr3
|
UTSW |
8 |
73,181,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2202:Calr3
|
UTSW |
8 |
73,188,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2296:Calr3
|
UTSW |
8 |
73,178,469 (GRCm39) |
unclassified |
probably benign |
|
|
R2432:Calr3
|
UTSW |
8 |
73,192,270 (GRCm39) |
unclassified |
probably benign |
|
|
R3946:Calr3
|
UTSW |
8 |
73,197,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4382:Calr3
|
UTSW |
8 |
73,182,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Calr3
|
UTSW |
8 |
73,182,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Calr3
|
UTSW |
8 |
73,182,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Calr3
|
UTSW |
8 |
73,185,221 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5132:Calr3
|
UTSW |
8 |
73,185,212 (GRCm39) |
splice site |
probably null |
|
|
R7337:Calr3
|
UTSW |
8 |
73,185,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Calr3
|
UTSW |
8 |
73,178,487 (GRCm39) |
missense |
unknown |
|
|
R8132:Calr3
|
UTSW |
8 |
73,181,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Calr3
|
UTSW |
8 |
73,192,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Calr3
|
UTSW |
8 |
73,188,674 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9314:Calr3
|
UTSW |
8 |
73,178,535 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAGAGCACAAATGGGGC -3'
(R):5'- ATCTTCTGTAGGCCACTGGG -3'
Sequencing Primer
(F):5'- GCAGGAGCAAGGGCCAC -3'
(R):5'- GCAATGAGGACCCAAGTTTGATTTC -3'
|
| Posted On |
2016-02-29 |
Incidental Mutation