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) question?
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

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

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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2016-06-21