Incidental Mutation 'IGL03025:Calr3'
ID 408148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calr3
Ensembl Gene ENSMUSG00000019732
Gene Name calreticulin 3
Synonyms 6330586I20Rik, calsperin, 1700031L01Rik, Crt2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL03025
Quality Score
Status
Chromosome 8
Chromosomal Location 73178020-73197638 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 73188735 bp (GRCm39)
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 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: 151,315,405 (GRCm39) N91S possibly damaging Het
Adora1 T C 1: 134,130,807 (GRCm39) Y288C probably damaging Het
Avil A T 10: 126,849,446 (GRCm39) T581S probably benign Het
Cacna1h C T 17: 25,651,868 (GRCm39) W92* probably null Het
Cdan1 T C 2: 120,561,222 (GRCm39) E181G probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cnga1 T A 5: 72,762,756 (GRCm39) I253F probably benign Het
Cngb3 T G 4: 19,283,498 (GRCm39) probably benign Het
Cstf3 T A 2: 104,439,276 (GRCm39) Y30N possibly damaging Het
Cyp2a12 T A 7: 26,730,631 (GRCm39) S199T probably benign Het
Dlg1 A G 16: 31,624,545 (GRCm39) I412V probably benign Het
Fasn C T 11: 120,708,974 (GRCm39) V570M probably benign Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Frmd5 T A 2: 121,383,825 (GRCm39) M369L probably benign Het
Ftdc2 A C 16: 58,458,076 (GRCm39) I75S probably damaging Het
Gatb T C 3: 85,483,181 (GRCm39) W63R probably damaging Het
Gga1 G T 15: 78,772,382 (GRCm39) L227F probably damaging Het
Itgb1 A G 8: 129,449,065 (GRCm39) N557S possibly damaging Het
Ltf T C 9: 110,854,169 (GRCm39) V328A possibly damaging Het
Nefh T C 11: 4,895,289 (GRCm39) E300G probably damaging Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or1m1 T C 9: 18,666,665 (GRCm39) N89D probably benign Het
Pcdhb13 T G 18: 37,575,817 (GRCm39) V65G probably damaging Het
Pcdhb4 A T 18: 37,443,030 (GRCm39) Y780F possibly damaging Het
Plcd3 C T 11: 102,965,724 (GRCm39) E503K probably benign Het
Rbm6 T A 9: 107,651,918 (GRCm39) D903V possibly damaging Het
Rnf133 A G 6: 23,649,134 (GRCm39) M265T probably benign Het
Sbf1 T C 15: 89,173,848 (GRCm39) T1775A probably damaging Het
Serpina1f T A 12: 103,659,805 (GRCm39) D159V probably damaging Het
Skap1 C A 11: 96,593,508 (GRCm39) S118R probably damaging Het
Slc17a9 C A 2: 180,381,609 (GRCm39) probably null Het
Slc30a5 A G 13: 100,950,395 (GRCm39) S231P probably damaging Het
Stac2 A G 11: 97,934,548 (GRCm39) F52S probably damaging Het
Them7 T C 2: 105,128,150 (GRCm39) S44P probably benign Het
Tnmd A G X: 132,766,162 (GRCm39) probably benign Het
Trdmt1 A T 2: 13,528,246 (GRCm39) I105N probably damaging Het
Trpc1 C T 9: 95,592,313 (GRCm39) G554E probably damaging Het
Vmn1r37 A G 6: 66,708,740 (GRCm39) Y85C probably benign Het
Zim1 T C 7: 6,685,058 (GRCm39) T131A probably benign Het
Other mutations in Calr3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4383: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
Posted On 2016-08-02