Incidental Mutation 'R3957:Canx'
ID 310774
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 040931-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R3957 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50199210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 153 (V153A)
Ref Sequence ENSEMBL: ENSMUSP00000137440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]
AlphaFold P35564
Predicted Effect probably damaging
Transcript: ENSMUST00000020637
AA Change: V153A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: V153A

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 damaging
Transcript: ENSMUST00000179865
AA Change: V153A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: V153A

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: 98.4%
  • 10x: 96.9%
  • 20x: 93.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Acsm4 A T 7: 119,302,588 (GRCm39) M238L possibly damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Atp13a5 T A 16: 29,117,012 (GRCm39) I579L probably benign Het
Cdan1 A G 2: 120,556,113 (GRCm39) Y718H probably damaging Het
Cdan1 G A 2: 120,561,501 (GRCm39) probably benign Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Dach1 T C 14: 98,077,545 (GRCm39) T561A probably damaging Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dhx29 C T 13: 113,067,455 (GRCm39) A112V probably benign Het
Fanca G A 8: 124,043,102 (GRCm39) R95C probably benign Het
Fat4 C A 3: 39,036,495 (GRCm39) N3382K probably benign Het
Fkbp15 A C 4: 62,252,489 (GRCm39) F290L probably benign Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Ighv3-4 T A 12: 114,217,300 (GRCm39) Q97L probably damaging Het
Igkv15-103 A T 6: 68,414,903 (GRCm39) Y114F probably benign Het
Kera G A 10: 97,448,707 (GRCm39) R309H probably benign Het
Kif1a T A 1: 92,953,416 (GRCm39) H1256L probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lmx1b T C 2: 33,459,106 (GRCm39) E149G probably damaging Het
Me2 A G 18: 73,914,203 (GRCm39) F443L probably damaging Het
Med12l T A 3: 58,980,589 (GRCm39) S307R probably damaging Het
Mettl25b T C 3: 87,834,135 (GRCm39) K116R possibly damaging Het
Mocs2 T A 13: 114,961,803 (GRCm39) probably null Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5d43 A G 2: 88,105,348 (GRCm39) F15S probably damaging Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Pan2 C T 10: 128,151,046 (GRCm39) R806C probably damaging Het
Plod3 A T 5: 137,023,046 (GRCm39) H616L probably damaging Het
Plxnb3 T C X: 72,814,826 (GRCm39) V1789A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tdrkh A G 3: 94,335,556 (GRCm39) N383S probably damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Trub1 G A 19: 57,473,798 (GRCm39) A239T possibly damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Unc13b A G 4: 43,256,834 (GRCm39) Y3962C probably damaging Het
Usp3 T C 9: 66,469,873 (GRCm39) T83A probably benign Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Zmym6 T C 4: 127,017,089 (GRCm39) S957P possibly damaging Het
Zmynd8 T C 2: 165,654,395 (GRCm39) T722A probably damaging 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
R2218: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
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'- TCACCAGCAGCAGCATTTC -3'
(R):5'- GCAAACAAATGTCTGGCTTTTGC -3'

Sequencing Primer
(F):5'- CAGCAGCAGCATTTCTTTTCATAGG -3'
(R):5'- TTTTTGATTTTTGTGTGGCCGAG -3'
Posted On 2015-04-29