Incidental Mutation 'R2218:Canx'
ID 241275
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 040220-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R2218 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50201694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 59 (V59I)
Ref Sequence ENSEMBL: ENSMUSP00000137440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]
AlphaFold P35564
Predicted Effect probably benign
Transcript: ENSMUST00000020637
AA Change: V59I

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: V59I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Calreticulin 72 441 1.7e-170 PFAM
transmembrane domain 484 506 N/A INTRINSIC
coiled coil region 525 560 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179865
AA Change: V59I

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: V59I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Calreticulin 70 441 4.7e-166 PFAM
transmembrane domain 484 506 N/A INTRINSIC
coiled coil region 525 560 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit motor defects, loss of large myelinated nerve fibers, small size, and very high mortality between birth and 4 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram G T 4: 56,802,693 (GRCm39) V26L probably damaging Het
Acap3 A G 4: 155,988,319 (GRCm39) probably null Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atp13a5 A T 16: 29,140,464 (GRCm39) V319D probably damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Brinp1 A G 4: 68,680,952 (GRCm39) L526P probably damaging Het
Cacna1d C T 14: 29,845,048 (GRCm39) D679N probably damaging Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
F13b G T 1: 139,434,582 (GRCm39) S116I probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gcn1 C A 5: 115,757,720 (GRCm39) S2475Y probably benign Het
Gls2 T C 10: 128,040,583 (GRCm39) L328P probably damaging Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Htr3a T C 9: 48,819,911 (GRCm39) Y73C probably damaging Het
Iapp G A 6: 142,249,096 (GRCm39) A50T probably benign Het
Il10ra T C 9: 45,176,914 (GRCm39) D137G probably benign Het
Krt35 T C 11: 99,986,988 (GRCm39) S9G probably null Het
Lamc2 T A 1: 153,006,525 (GRCm39) R875S probably benign Het
Mcoln1 C A 8: 3,555,813 (GRCm39) T36K possibly damaging Het
Muc6 T C 7: 141,233,227 (GRCm39) H885R probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or10al4 A T 17: 38,037,145 (GRCm39) I77F probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Rag1 T C 2: 101,474,491 (GRCm39) H217R probably benign Het
Ramp2 A G 11: 101,138,457 (GRCm39) E86G probably benign Het
Rcbtb2 T C 14: 73,416,005 (GRCm39) probably null Het
Sema5a A T 15: 32,631,455 (GRCm39) I613F probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slc39a11 C A 11: 113,450,376 (GRCm39) probably null Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tkt G T 14: 30,289,018 (GRCm39) probably null Het
Tle1 A T 4: 72,117,556 (GRCm39) F35I possibly damaging Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Ttll13 A G 7: 79,902,250 (GRCm39) K109R probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp608 T C 18: 55,120,756 (GRCm39) N277S probably benign Het
Other mutations in Canx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Canx APN 11 50,191,823 (GRCm39) missense possibly damaging 0.61
IGL03089:Canx APN 11 50,195,309 (GRCm39) missense possibly damaging 0.85
R1428:Canx UTSW 11 50,199,221 (GRCm39) splice site probably benign
R1876:Canx UTSW 11 50,195,186 (GRCm39) missense probably damaging 1.00
R2057:Canx UTSW 11 50,195,252 (GRCm39) missense probably damaging 0.97
R2058:Canx UTSW 11 50,195,252 (GRCm39) missense probably damaging 0.97
R2088:Canx UTSW 11 50,201,217 (GRCm39) missense possibly damaging 0.89
R2126:Canx UTSW 11 50,195,185 (GRCm39) missense probably damaging 1.00
R2217:Canx UTSW 11 50,201,694 (GRCm39) missense probably benign 0.24
R2386:Canx UTSW 11 50,187,933 (GRCm39) missense probably benign
R3716:Canx UTSW 11 50,195,301 (GRCm39) missense probably benign 0.14
R3957:Canx UTSW 11 50,199,210 (GRCm39) missense probably damaging 1.00
R4019:Canx UTSW 11 50,190,072 (GRCm39) missense probably damaging 1.00
R4402:Canx UTSW 11 50,195,265 (GRCm39) missense probably benign 0.13
R4825:Canx UTSW 11 50,199,636 (GRCm39) missense probably benign 0.42
R5252:Canx UTSW 11 50,199,621 (GRCm39) missense probably damaging 1.00
R5385:Canx UTSW 11 50,192,639 (GRCm39) missense probably damaging 1.00
R5797:Canx UTSW 11 50,191,844 (GRCm39) missense probably benign 0.00
R5820:Canx UTSW 11 50,199,210 (GRCm39) missense probably damaging 1.00
R6052:Canx UTSW 11 50,187,946 (GRCm39) missense possibly damaging 0.49
R7259:Canx UTSW 11 50,192,643 (GRCm39) missense probably damaging 1.00
R7603:Canx UTSW 11 50,202,455 (GRCm39) missense probably benign
R7715:Canx UTSW 11 50,201,631 (GRCm39) missense probably benign 0.13
R7735:Canx UTSW 11 50,191,866 (GRCm39) missense probably damaging 0.97
R8063:Canx UTSW 11 50,199,173 (GRCm39) nonsense probably null
R8069:Canx UTSW 11 50,202,531 (GRCm39) missense possibly damaging 0.93
R8494:Canx UTSW 11 50,202,609 (GRCm39) critical splice acceptor site probably null
R8508:Canx UTSW 11 50,202,474 (GRCm39) missense possibly damaging 0.85
R8941:Canx UTSW 11 50,195,270 (GRCm39) missense possibly damaging 0.90
R9153:Canx UTSW 11 50,188,162 (GRCm39) missense probably benign
R9722:Canx UTSW 11 50,195,301 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- ACTATGTTCAGCCCCAATACTGC -3'
(R):5'- GGATTGAATTTAAGGGCAGCTATG -3'

Sequencing Primer
(F):5'- TACTGCTTAAAAAGGGTCCAGTGC -3'
(R):5'- GTGACAATTGAAACCAAATCCTGAG -3'
Posted On 2014-10-15