Incidental Mutation 'R1675:Calr3'
ID 188003
Institutional Source Beutler Lab
Gene Symbol Calr3
Ensembl Gene ENSMUSG00000019732
Gene Name calreticulin 3
Synonyms 6330586I20Rik, calsperin, 1700031L01Rik, Crt2
MMRRC Submission 039711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1675 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 73178020-73197638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73185302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
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: D199G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: D199G

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 damaging
Transcript: ENSMUST00000109974
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732
AA Change: D91G

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 93.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,302,570 (GRCm39) probably null Het
Adam6b T C 12: 113,454,664 (GRCm39) Y494H probably benign Het
Adamtsl2 GC G 2: 26,972,497 (GRCm39) probably null Het
Anapc2 G A 2: 25,162,651 (GRCm39) V42M possibly damaging Het
Aph1a T A 3: 95,802,211 (GRCm39) D64E possibly damaging Het
Arhgef11 C T 3: 87,638,518 (GRCm39) A1111V possibly damaging Het
Atoh1 T C 6: 64,707,141 (GRCm39) S279P probably benign Het
Atp10b A G 11: 43,116,475 (GRCm39) T941A probably damaging Het
Barhl1 C T 2: 28,805,423 (GRCm39) R90Q possibly damaging Het
Ccdc148 T C 2: 58,870,566 (GRCm39) D317G probably damaging Het
Cnn3 C T 3: 121,250,818 (GRCm39) Q19* probably null Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp4x1 T C 4: 114,984,757 (GRCm39) E41G possibly damaging Het
Dagla T A 19: 10,246,687 (GRCm39) M138L probably benign Het
Dnah6 A T 6: 73,106,523 (GRCm39) M1738K probably damaging Het
Eif4enif1 T A 11: 3,165,686 (GRCm39) S88T probably benign Het
Eno3 T C 11: 70,549,492 (GRCm39) probably null Het
Erbb3 C A 10: 128,407,073 (GRCm39) S1029I probably damaging Het
Erbin C A 13: 103,977,686 (GRCm39) V624L probably damaging Het
Fam170b C T 14: 32,557,359 (GRCm39) Q65* probably null Het
Gin1 T A 1: 97,713,780 (GRCm39) L360* probably null Het
Gldc A T 19: 30,120,853 (GRCm39) D359E probably damaging Het
Gpr107 A T 2: 31,057,063 (GRCm39) T52S possibly damaging Het
Hip1r A G 5: 124,132,883 (GRCm39) Y227C probably damaging Het
Hmgxb3 A G 18: 61,268,631 (GRCm39) L1004P probably damaging Het
Hspa1l A G 17: 35,196,419 (GRCm39) N153D probably damaging Het
Itga8 C A 2: 12,204,974 (GRCm39) V488L probably damaging Het
Kcnk10 G A 12: 98,462,547 (GRCm39) A134V probably benign Het
Kif18a T A 2: 109,128,748 (GRCm39) C406S probably benign Het
Klhl28 A T 12: 64,998,593 (GRCm39) S300R probably damaging Het
Kmt2e C T 5: 23,687,451 (GRCm39) Q434* probably null Het
Lilrb4a A G 10: 51,372,281 (GRCm39) T222A probably benign Het
Lipn G A 19: 34,058,110 (GRCm39) R277Q probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Lrrc74a G A 12: 86,787,800 (GRCm39) E144K probably damaging Het
Mal T C 2: 127,476,964 (GRCm39) Y77C probably benign Het
Map1a T A 2: 121,133,136 (GRCm39) C1079* probably null Het
Mbd5 T A 2: 49,146,230 (GRCm39) S147T possibly damaging Het
Nsd2 T A 5: 34,018,493 (GRCm39) M509K probably benign Het
Or13p4 C T 4: 118,547,145 (GRCm39) R168H probably benign Het
Or1ad8 T C 11: 50,898,464 (GRCm39) F222L probably benign Het
Or5an1c C T 19: 12,218,195 (GRCm39) V277I probably benign Het
Or6p1 T C 1: 174,258,663 (GRCm39) V223A probably benign Het
Rcor2 C T 19: 7,247,546 (GRCm39) L45F probably damaging Het
Rpl12 T A 2: 32,853,537 (GRCm39) D107E probably benign Het
Rpl7l1 A T 17: 47,089,117 (GRCm39) F205I probably damaging Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Sema4a A T 3: 88,362,073 (GRCm39) F18I possibly damaging Het
Slc37a1 A T 17: 31,557,048 (GRCm39) T405S probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt14 T C 1: 192,579,790 (GRCm39) D781G probably damaging Het
Tasor2 T C 13: 3,619,507 (GRCm39) I2241M possibly damaging Het
Tprn T G 2: 25,154,421 (GRCm39) D574E probably benign Het
Trim75 T A 8: 65,435,163 (GRCm39) E429V probably damaging Het
Trit1 C T 4: 122,948,029 (GRCm39) R450C possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Unc13c A G 9: 73,546,332 (GRCm39) probably null Het
Usp49 C A 17: 47,984,335 (GRCm39) L447I probably damaging Het
Vmn1r20 T C 6: 57,408,937 (GRCm39) C88R probably benign Het
Zfp94 T A 7: 24,002,259 (GRCm39) K394N probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GCAGAAGCTACAGTGCAAGCAGG -3'
(R):5'- AGTCAGGTATAGTGGTACAGTGCTCG -3'

Sequencing Primer
(F):5'- CTGGACTTTACTGCCTTCCA -3'
(R):5'- tgtgccacccccaacag -3'
Posted On 2014-05-09