Incidental Mutation 'IGL03025:Calr3'
ID408148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calr3
Ensembl Gene ENSMUSG00000019732
Gene Namecalreticulin 3
SynonymsCrt2, 6330586I20Rik, calsperin, 1700031L01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL03025
Quality Score
Status
Chromosome8
Chromosomal Location72424176-72443870 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 72434891 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000109974]
Predicted Effect probably benign
Transcript: ENSMUST00000019876
SMART Domains Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000109974
SMART Domains Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,485 N91S possibly damaging Het
Adora1 T C 1: 134,203,069 Y288C probably damaging Het
Avil A T 10: 127,013,577 T581S probably benign Het
Cacna1h C T 17: 25,432,894 W92* probably null Het
Cdan1 T C 2: 120,730,741 E181G probably damaging Het
Clca4a T C 3: 144,957,318 N590S probably benign Het
Cnga1 T A 5: 72,605,413 I253F probably benign Het
Cngb3 T G 4: 19,283,498 probably benign Het
Cstf3 T A 2: 104,608,931 Y30N possibly damaging Het
Cyp2a12 T A 7: 27,031,206 S199T probably benign Het
Dlg1 A G 16: 31,805,727 I412V probably benign Het
E330017A01Rik A C 16: 58,637,713 I75S probably damaging Het
Fasn C T 11: 120,818,148 V570M probably benign Het
Fhit A G 14: 10,421,534 S85P probably damaging Het
Frmd5 T A 2: 121,553,344 M369L probably benign Het
Gatb T C 3: 85,575,874 W63R probably damaging Het
Gga1 G T 15: 78,888,182 L227F probably damaging Het
Itgb1 A G 8: 128,722,584 N557S possibly damaging Het
Ltf T C 9: 111,025,101 V328A possibly damaging Het
Nefh T C 11: 4,945,289 E300G probably damaging Het
Nrip1 A G 16: 76,294,465 V68A probably benign Het
Olfr24 T C 9: 18,755,369 N89D probably benign Het
Pcdhb13 T G 18: 37,442,764 V65G probably damaging Het
Pcdhb4 A T 18: 37,309,977 Y780F possibly damaging Het
Plcd3 C T 11: 103,074,898 E503K probably benign Het
Rbm6 T A 9: 107,774,719 D903V possibly damaging Het
Rnf133 A G 6: 23,649,135 M265T probably benign Het
Sbf1 T C 15: 89,289,645 T1775A probably damaging Het
Serpina1f T A 12: 103,693,546 D159V probably damaging Het
Skap1 C A 11: 96,702,682 S118R probably damaging Het
Slc17a9 C A 2: 180,739,816 probably null Het
Slc30a5 A G 13: 100,813,887 S231P probably damaging Het
Stac2 A G 11: 98,043,722 F52S probably damaging Het
Them7 T C 2: 105,297,805 S44P probably benign Het
Tnmd A G X: 133,865,413 probably benign Het
Trdmt1 A T 2: 13,523,435 I105N probably damaging Het
Trpc1 C T 9: 95,710,260 G554E probably damaging Het
Vmn1r37 A G 6: 66,731,756 Y85C probably benign Het
Zim1 T C 7: 6,682,059 T131A probably benign Het
Other mutations in Calr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Calr3 APN 8 72431396 nonsense probably null
IGL01358:Calr3 APN 8 72427213 nonsense probably null
IGL02440:Calr3 APN 8 72431432 missense probably benign 0.30
IGL02646:Calr3 APN 8 72443460 missense possibly damaging 0.89
IGL02882:Calr3 APN 8 72434821 missense probably damaging 0.99
IGL02945:Calr3 APN 8 72438557 missense probably damaging 1.00
IGL03175:Calr3 APN 8 72443605 missense probably damaging 1.00
R0140:Calr3 UTSW 8 72434888 splice site probably benign
R1518:Calr3 UTSW 8 72427200 missense probably damaging 0.97
R1675:Calr3 UTSW 8 72431458 missense probably damaging 1.00
R2006:Calr3 UTSW 8 72434851 missense probably damaging 1.00
R2111:Calr3 UTSW 8 72427268 missense probably damaging 0.99
R2202:Calr3 UTSW 8 72434839 missense probably damaging 1.00
R2296:Calr3 UTSW 8 72424625 unclassified probably benign
R2432:Calr3 UTSW 8 72438426 unclassified probably benign
R3946:Calr3 UTSW 8 72443620 missense probably damaging 1.00
R4382:Calr3 UTSW 8 72428164 missense probably damaging 1.00
R4383:Calr3 UTSW 8 72428164 missense probably damaging 1.00
R4384:Calr3 UTSW 8 72428164 missense probably damaging 1.00
R4385:Calr3 UTSW 8 72428164 missense probably damaging 1.00
R4943:Calr3 UTSW 8 72431377 missense probably benign 0.18
R5132:Calr3 UTSW 8 72431368 splice site probably null
R7337:Calr3 UTSW 8 72431495 missense probably damaging 1.00
R7879:Calr3 UTSW 8 72424643 missense unknown
R7962:Calr3 UTSW 8 72424643 missense unknown
Posted On2016-08-02