Incidental Mutation 'R5252:Canx'
ID 399123
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 042823-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R5252 (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 T at 50199621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 148 (I148N)
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: I148N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: I148N

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: I148N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: I148N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,056,762 (GRCm39) R386L probably damaging Het
Ano8 A T 8: 71,935,261 (GRCm39) Y346N probably damaging Het
Cabp4 T C 19: 4,186,067 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,962,593 (GRCm39) V117A probably benign Het
Cdk12 A T 11: 98,134,335 (GRCm39) N1078Y unknown Het
Cdk7 T A 13: 100,866,968 (GRCm39) K42* probably null Het
Col6a5 T C 9: 105,817,489 (GRCm39) D274G unknown Het
Cux1 T C 5: 136,337,151 (GRCm39) E696G probably damaging Het
Cxxc1 C T 18: 74,353,022 (GRCm39) A444V probably benign Het
Dll1 T C 17: 15,588,951 (GRCm39) K575E probably damaging Het
Dnah11 A G 12: 118,089,676 (GRCm39) F1130S probably damaging Het
Dnah2 A G 11: 69,420,295 (GRCm39) F140L probably damaging Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Evi5 T C 5: 107,943,618 (GRCm39) T592A probably benign Het
Fas T C 19: 34,294,043 (GRCm39) S133P probably damaging Het
Gpr139 A G 7: 118,744,427 (GRCm39) S53P probably benign Het
H2-Q4 T C 17: 35,599,411 (GRCm39) F165L probably benign Het
Ighv9-2 A G 12: 114,072,838 (GRCm39) V45A probably benign Het
Inpp1 T G 1: 52,833,706 (GRCm39) D130A probably benign Het
Lin54 C T 5: 100,628,063 (GRCm39) V47I probably benign Het
Nav3 TGAAGAAGAAGAAGA TGAAGAAGAAGA 10: 109,550,152 (GRCm39) probably benign Het
Nexn T C 3: 151,943,590 (GRCm39) T438A probably benign Het
Or4c112 A T 2: 88,853,598 (GRCm39) F250I probably damaging Het
Or8g4 T G 9: 39,661,784 (GRCm39) I34S probably damaging Het
Pilrb1 T A 5: 137,853,315 (GRCm39) M163L probably benign Het
Pkhd1 A T 1: 20,420,635 (GRCm39) probably null Het
Ppard G A 17: 28,517,822 (GRCm39) V297I probably benign Het
Rabgap1 T C 2: 37,365,369 (GRCm39) V214A probably benign Het
Serpinc1 T C 1: 160,817,191 (GRCm39) F95S probably damaging Het
Slc5a8 T C 10: 88,742,209 (GRCm39) Y302H probably damaging Het
Slco4a1 G A 2: 180,106,252 (GRCm39) A145T possibly damaging Het
Spata31g1 T A 4: 42,971,706 (GRCm39) F346L probably benign Het
Sptlc2 A T 12: 87,382,829 (GRCm39) M425K possibly damaging Het
Tent5c A G 3: 100,380,024 (GRCm39) L244P probably damaging Het
Trp53bp1 A G 2: 121,074,464 (GRCm39) S429P probably benign Het
Unc13a T A 8: 72,105,208 (GRCm39) T723S probably damaging Het
Ush2a A T 1: 188,553,914 (GRCm39) I3468F possibly damaging Het
Utp20 A T 10: 88,586,532 (GRCm39) D2547E probably benign Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Zfyve26 A G 12: 79,315,756 (GRCm39) L1240P 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
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
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'- TGCTTTTATGTGGCCACTCG -3'
(R):5'- TGTGGCTAACAGTCAAGAGC -3'

Sequencing Primer
(F):5'- GCAAAAGCCAGACATTTGTTTGC -3'
(R):5'- GCTAACAGTCAAGAGCCATTTTG -3'
Posted On 2016-07-06