Incidental Mutation 'R2088:Canx'
ID 231600
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 040093-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R2088 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50201217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 97 (E97K)
Ref Sequence ENSEMBL: ENSMUSP00000137440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]
AlphaFold P35564
Predicted Effect possibly damaging
Transcript: ENSMUST00000020637
AA Change: E97K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: E97K

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 possibly damaging
Transcript: ENSMUST00000179865
AA Change: E97K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: E97K

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
Meta Mutation Damage Score 0.1674 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,333,265 (GRCm39) probably benign Het
Ano5 T A 7: 51,237,454 (GRCm39) N759K possibly damaging Het
Arhgef10 A G 8: 15,033,898 (GRCm39) T1072A possibly damaging Het
BC107364 T C 3: 96,341,745 (GRCm39) T93A unknown Het
Casp8ap2 T C 4: 32,631,126 (GRCm39) L62P probably damaging Het
Cbfa2t3 C T 8: 123,364,725 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,811 (GRCm39) probably null Het
Cmya5 A T 13: 93,229,320 (GRCm39) S1923T probably damaging Het
Cntnap1 T A 11: 101,073,373 (GRCm39) I618N probably damaging Het
Cox17 C G 16: 38,167,542 (GRCm39) P27R probably damaging Het
Ctnna3 A G 10: 64,708,986 (GRCm39) E675G probably damaging Het
Cul9 A G 17: 46,837,575 (GRCm39) L990P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Fhdc1 T C 3: 84,382,033 (GRCm39) probably benign Het
Fryl T A 5: 73,222,804 (GRCm39) I1926F probably benign Het
Galnt4 A G 10: 98,945,046 (GRCm39) D257G probably damaging Het
Gatm A G 2: 122,428,629 (GRCm39) V344A probably benign Het
Gli1 T G 10: 127,167,369 (GRCm39) Y628S probably damaging Het
Gsdmc3 A C 15: 63,732,063 (GRCm39) probably null Het
Hap1 T C 11: 100,246,828 (GRCm39) T26A probably benign Het
Helz2 C T 2: 180,876,895 (GRCm39) G1200S probably benign Het
Insyn1 T C 9: 58,406,288 (GRCm39) F66S probably damaging Het
Iqgap2 C T 13: 96,028,171 (GRCm39) probably null Het
Itga3 T A 11: 94,943,320 (GRCm39) I895F probably benign Het
Klhl33 A T 14: 51,130,230 (GRCm39) C421* probably null Het
Klra2 T C 6: 131,219,789 (GRCm39) T131A probably damaging Het
Krt14 T C 11: 100,094,949 (GRCm39) E426G possibly damaging Het
Limd2 A G 11: 106,049,568 (GRCm39) F107L probably damaging Het
Lipo4 A T 19: 33,477,469 (GRCm39) N318K possibly damaging Het
Mab21l2 T G 3: 86,454,316 (GRCm39) D228A probably damaging Het
Moxd2 G A 6: 40,861,901 (GRCm39) H224Y probably damaging Het
Mpp4 T C 1: 59,162,624 (GRCm39) Y521C possibly damaging Het
Msto1 C T 3: 88,818,297 (GRCm39) A317T probably damaging Het
Mtmr4 T C 11: 87,501,793 (GRCm39) S559P probably damaging Het
Muc4 T A 16: 32,576,783 (GRCm39) H2094Q unknown Het
Ndufa11 C A 17: 57,024,922 (GRCm39) T28K probably damaging Het
Or2b4 A G 17: 38,116,686 (GRCm39) T217A probably benign Het
Or4f4b G T 2: 111,314,623 (GRCm39) A283S probably damaging Het
Orai2 C A 5: 136,179,610 (GRCm39) R155L probably damaging Het
Pde4c A G 8: 71,202,005 (GRCm39) D582G possibly damaging Het
Pde4dip T C 3: 97,661,749 (GRCm39) E609G probably null Het
Prune2 A G 19: 17,097,109 (GRCm39) D871G possibly damaging Het
Rbpms2 T A 9: 65,538,121 (GRCm39) L4Q probably damaging Het
Rhbg T C 3: 88,154,765 (GRCm39) Y213C probably damaging Het
Rplp0 T A 5: 115,700,562 (GRCm39) N243K possibly damaging Het
Rtp4 A T 16: 23,431,963 (GRCm39) H165L possibly damaging Het
Ryr2 C A 13: 11,677,115 (GRCm39) M3245I probably benign Het
Sh2b2 T A 5: 136,260,968 (GRCm39) M83L possibly damaging Het
Simc1 T C 13: 54,689,347 (GRCm39) I284T probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
St6galnac1 A G 11: 116,659,933 (GRCm39) S127P probably benign Het
Tatdn3 A G 1: 190,785,073 (GRCm39) I192T possibly damaging Het
Tmem25 C A 9: 44,707,383 (GRCm39) V239F possibly damaging Het
Tprkb A C 6: 85,909,922 (GRCm39) probably benign Het
Trappc10 A G 10: 78,032,168 (GRCm39) V1040A probably benign Het
Txnrd1 G A 10: 82,719,744 (GRCm39) probably benign Het
Uhrf1 A T 17: 56,625,089 (GRCm39) K544M probably damaging Het
Unc80 T A 1: 66,629,386 (GRCm39) H1294Q possibly damaging Het
Uspl1 T A 5: 149,146,560 (GRCm39) I437K probably damaging Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Vmn2r19 A T 6: 123,312,795 (GRCm39) I622F probably damaging Het
Znfx1 A G 2: 166,897,730 (GRCm39) F398S 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
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
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'- AGTGGCCTCTAAGTTAGGAGGG -3'
(R):5'- GAACTTGGCCTCTTGTTGC -3'

Sequencing Primer
(F):5'- CCTCTAAGTTAGGAGGGGTGAAC -3'
(R):5'- GGCCTCTTGTTGCTTTTATTTCCG -3'
Posted On 2014-09-18