Incidental Mutation 'R5797:Canx'
ID 447284
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 043209-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R5797 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50191844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 356 (I356V)
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: I356V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: I356V

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: ENSMUST00000153068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155801
Predicted Effect probably benign
Transcript: ENSMUST00000179865
AA Change: I356V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: I356V

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T C 3: 40,887,986 (GRCm39) F277L probably benign Het
Acsf2 A G 11: 94,462,505 (GRCm39) V170A probably damaging Het
Amz2 G T 11: 109,317,905 (GRCm39) probably benign Het
Atp4a A G 7: 30,412,074 (GRCm39) Y65C probably damaging Het
Cfap54 T A 10: 92,803,438 (GRCm39) T1535S probably benign Het
Cts3 A T 13: 61,716,206 (GRCm39) W52R probably damaging Het
Cyb5rl A T 4: 106,941,404 (GRCm39) E276D possibly damaging Het
Dhx30 T C 9: 109,927,888 (GRCm39) N78S probably damaging Het
Dmap1 A T 4: 117,532,677 (GRCm39) V333E possibly damaging Het
Dnah10 A G 5: 124,898,450 (GRCm39) E3744G probably benign Het
Efcab6 C T 15: 83,808,478 (GRCm39) C828Y possibly damaging Het
Fam227b A C 2: 125,849,254 (GRCm39) I326S probably benign Het
Fbrs C A 7: 127,086,463 (GRCm39) H604Q probably damaging Het
Fshr T G 17: 89,318,503 (GRCm39) N129T probably damaging Het
Gja3 T C 14: 57,273,170 (GRCm39) R401G probably damaging Het
Gm572 G A 4: 148,751,255 (GRCm39) M209I probably benign Het
Gne G A 4: 44,060,030 (GRCm39) T121M probably damaging Het
Gnmt T C 17: 47,037,305 (GRCm39) N160D probably damaging Het
Kalrn T C 16: 34,032,619 (GRCm39) Y1125C probably damaging Het
Kif2a A T 13: 107,111,884 (GRCm39) C524S probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lrrtm2 C T 18: 35,346,759 (GRCm39) R181H probably damaging Het
Mkln1 A G 6: 31,410,004 (GRCm39) D214G probably benign Het
Muc5b C A 7: 141,405,319 (GRCm39) T909N unknown Het
Myh13 T A 11: 67,225,828 (GRCm39) D335E possibly damaging Het
Myo5b A G 18: 74,834,592 (GRCm39) E884G probably benign Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nxpe4 T A 9: 48,307,838 (GRCm39) I314N possibly damaging Het
Pcnt T C 10: 76,228,590 (GRCm39) E1525G probably benign Het
Pkd1 T A 17: 24,811,615 (GRCm39) H153Q possibly damaging Het
Prkdc T A 16: 15,555,698 (GRCm39) Y2157* probably null Het
Scd3 T C 19: 44,203,950 (GRCm39) I46T probably benign Het
Sdha A T 13: 74,482,476 (GRCm39) M279K probably damaging Het
Slco4c1 A G 1: 96,746,829 (GRCm39) V671A probably benign Het
Slitrk3 T A 3: 72,955,962 (GRCm39) T937S probably damaging Het
Sncaip A T 18: 53,031,276 (GRCm39) T442S probably benign Het
Sptb T C 12: 76,650,473 (GRCm39) D1748G possibly damaging Het
Trmt9b A T 8: 36,965,569 (GRCm39) K30* probably null Het
Vmn2r12 A T 5: 109,233,736 (GRCm39) C825* probably null 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
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
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'- GCTTTTGCCCAGACACGAAC -3'
(R):5'- GCAATAGCTATGTGCCCCTCTC -3'

Sequencing Primer
(F):5'- CAATCATTGGAGGCTTCC -3'
(R):5'- GATCACTGAGTTCTAGGACAGCC -3'
Posted On 2016-12-15