|Institutional Source||Beutler Lab|
|Gene Name||calreticulin 3|
|Synonyms||Crt2, 6330586I20Rik, calsperin, 1700031L01Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.101)|
|Stock #||R3946 (G1)|
|Chromosomal Location||72424176-72443870 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 72443620 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 22 (Y22H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019876 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000064853] [ENSMUST00000121902]|
AA Change: Y22H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y22H
|Meta Mutation Damage Score||0.1979|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
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||
|Other mutations in Calr3||
(F):5'- TTCCCCGATGAGACTCTGAAG -3'
(R):5'- ACGGGACCAGTAATTTCAGC -3'
(F):5'- TCTGAAGTGCCCAAACTGG -3'
(R):5'- GTAATTTCAGCGCACCCATTAG -3'