Incidental Mutation 'R1876:Canx'
ID 211251
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 039898-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R1876 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50195186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 294 (I294T)
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: I294T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: I294T

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 noncoding transcript
Transcript: ENSMUST00000146979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155801
Predicted Effect probably damaging
Transcript: ENSMUST00000179865
AA Change: I294T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: I294T

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 0.9199 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.2%
Validation Efficiency 99% (82/83)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,025,396 (GRCm39) C961F probably damaging Het
Abca16 A C 7: 120,032,608 (GRCm39) D209A probably damaging Het
Adamts14 T C 10: 61,036,151 (GRCm39) I1047V probably benign Het
Ak1 A G 2: 32,520,282 (GRCm39) K27E probably damaging Het
Akap9 T A 5: 4,011,809 (GRCm39) D837E probably benign Het
Arfgef3 T C 10: 18,473,104 (GRCm39) Y1653C probably damaging Het
Atad2 T G 15: 57,970,264 (GRCm39) I446L probably benign Het
Atp8b3 T G 10: 80,365,912 (GRCm39) T313P possibly damaging Het
Btg4 T C 9: 51,028,489 (GRCm39) L72S probably damaging Het
Casp1 G A 9: 5,303,663 (GRCm39) E250K probably benign Het
Chchd10 T A 10: 75,772,166 (GRCm39) S46T probably benign Het
Col12a1 G T 9: 79,585,563 (GRCm39) Y1271* probably null Het
Col3a1 G A 1: 45,381,395 (GRCm39) probably null Het
Ctc1 A T 11: 68,922,390 (GRCm39) T872S probably benign Het
Cx3cl1 T C 8: 95,507,048 (GRCm39) F351S probably damaging Het
Cyb5r4 T A 9: 86,937,867 (GRCm39) H295Q probably damaging Het
Cyp2j7 T C 4: 96,105,656 (GRCm39) T285A probably benign Het
Dip2a G A 10: 76,153,925 (GRCm39) T135M probably damaging Het
Eif1ad18 T G 12: 88,050,810 (GRCm39) I115S probably damaging Het
Fgf10 A G 13: 118,925,695 (GRCm39) E158G probably damaging Het
Ftcd G T 10: 76,417,403 (GRCm39) A281S probably benign Het
Gpat4 A T 8: 23,669,486 (GRCm39) M333K possibly damaging Het
Gpcpd1 A G 2: 132,376,673 (GRCm39) L541P probably damaging Het
Grk5 T C 19: 61,071,663 (GRCm39) Y408H probably damaging Het
Hcrtr2 A G 9: 76,153,627 (GRCm39) probably null Het
Hsd17b13 T A 5: 104,116,633 (GRCm39) N127I probably damaging Het
Hspa4 T G 11: 53,174,983 (GRCm39) D158A probably benign Het
Ice2 G A 9: 69,322,857 (GRCm39) A451T possibly damaging Het
Inpp5e A T 2: 26,298,169 (GRCm39) I144K possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc49 T C 9: 60,495,060 (GRCm39) I652V possibly damaging Het
Man1a A T 10: 53,795,268 (GRCm39) W571R probably damaging Het
Mecom A G 3: 30,047,807 (GRCm39) S32P probably damaging Het
Mrpl40 A G 16: 18,691,224 (GRCm39) I162T probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr12 T C 15: 12,257,716 (GRCm39) W265R probably damaging Het
Mup21 C T 4: 62,067,663 (GRCm39) V79I probably benign Het
Myh11 G A 16: 14,086,967 (GRCm39) probably benign Het
Myom3 T A 4: 135,506,711 (GRCm39) F495I probably benign Het
Ncoa7 A T 10: 30,574,122 (GRCm39) probably benign Het
Nisch T C 14: 30,895,594 (GRCm39) Y45C probably damaging Het
Nkain2 T A 10: 32,766,435 (GRCm39) probably benign Het
Or1ak2 A T 2: 36,827,775 (GRCm39) I215F possibly damaging Het
Or4k1 A G 14: 50,377,629 (GRCm39) S156P probably damaging Het
Pdcl A C 2: 37,245,708 (GRCm39) H98Q probably damaging Het
Pink1 A G 4: 138,043,013 (GRCm39) V427A probably damaging Het
Plce1 T C 19: 38,769,067 (GRCm39) S2242P probably damaging Het
Plrg1 C A 3: 82,976,375 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,702,803 (GRCm39) F586S possibly damaging Het
Pnpla7 G A 2: 24,930,985 (GRCm39) V867M possibly damaging Het
Ppfia3 T A 7: 45,001,631 (GRCm39) D427V possibly damaging Het
Ppp6r3 A T 19: 3,521,971 (GRCm39) probably benign Het
Pros1 A T 16: 62,723,881 (GRCm39) S210C probably damaging Het
Ptk2b A G 14: 66,395,841 (GRCm39) S839P probably benign Het
Ptpre T C 7: 135,280,046 (GRCm39) V570A possibly damaging Het
Rbm48 C T 5: 3,645,259 (GRCm39) A142T probably damaging Het
Safb2 T C 17: 56,883,909 (GRCm39) probably null Het
Scnn1a A G 6: 125,315,801 (GRCm39) E384G probably benign Het
Sec23ip A G 7: 128,354,575 (GRCm39) Y277C probably benign Het
Slc25a29 G A 12: 108,793,637 (GRCm39) T42M probably damaging Het
Slc6a4 A T 11: 76,905,990 (GRCm39) T264S probably benign Het
Srgap3 A G 6: 112,752,527 (GRCm39) M319T probably damaging Het
Strn4 T A 7: 16,572,207 (GRCm39) I640N probably damaging Het
Tacc2 A G 7: 130,225,475 (GRCm39) D739G probably benign Het
Tigd4 T A 3: 84,501,242 (GRCm39) L53* probably null Het
Tlr6 T A 5: 65,112,763 (GRCm39) D48V probably damaging Het
Tmem125 T C 4: 118,399,101 (GRCm39) D110G probably damaging Het
Tmem198 A G 1: 75,461,567 (GRCm39) D341G probably damaging Het
Tnfaip3 A G 10: 18,880,682 (GRCm39) F462L possibly damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ush2a T A 1: 188,410,486 (GRCm39) I2378N possibly damaging Het
Usp47 A G 7: 111,654,127 (GRCm39) T108A probably damaging Het
Vmn1r236 T A 17: 21,506,900 (GRCm39) I6K probably benign Het
Vmn2r65 A T 7: 84,595,505 (GRCm39) V393D 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
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
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'- CCAGAGTAATTGGAACTTAAGTCC -3'
(R):5'- CTCTAGAAGGCATGATCTGTTGTG -3'

Sequencing Primer
(F):5'- CTTGCAAGCAAGCATAGGGTCTTAC -3'
(R):5'- AAGGCATGATCTGTTGTGTTAGATTG -3'
Posted On 2014-06-30