Incidental Mutation 'R4019:Canx'
ID 312690
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 040953-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R4019 (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 50190072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 429 (S429T)
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: S429T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: S429T

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 damaging
Transcript: ENSMUST00000179865
AA Change: S429T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: S429T

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: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T C 9: 106,313,978 (GRCm39) T61A possibly damaging Het
Ap4e1 C T 2: 126,903,846 (GRCm39) S916F probably benign Het
Brpf1 G A 6: 113,287,243 (GRCm39) R157Q probably damaging Het
Casz1 C T 4: 149,017,335 (GRCm39) P208L probably benign Het
Ctnnd1 C T 2: 84,450,302 (GRCm39) R306H probably damaging Het
Dip2c T C 13: 9,664,401 (GRCm39) V909A probably damaging Het
Epg5 C A 18: 78,073,665 (GRCm39) Q2511K probably damaging Het
Ghitm G A 14: 36,852,651 (GRCm39) A143V probably damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Ifitm3 T C 7: 140,589,772 (GRCm39) T94A possibly damaging Het
Ift81 G A 5: 122,731,192 (GRCm39) T321M probably benign Het
Ikbkb C T 8: 23,161,728 (GRCm39) V387I probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lpar5 A G 6: 125,058,638 (GRCm39) N120D probably damaging Het
Lrrc37 A G 11: 103,506,119 (GRCm39) S1950P probably benign Het
Lrrtm2 T C 18: 35,345,923 (GRCm39) I460V possibly damaging Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Nbas A G 12: 13,532,520 (GRCm39) R1743G probably damaging Het
Nherf4 A T 9: 44,162,117 (GRCm39) probably null Het
Notch1 T C 2: 26,371,154 (GRCm39) T311A probably benign Het
Oplah A G 15: 76,181,476 (GRCm39) Y1155H probably damaging Het
Or4c15 A G 2: 88,760,080 (GRCm39) I193T probably benign Het
Or52k2 T C 7: 102,253,849 (GRCm39) F96S probably damaging Het
Pcnx1 C T 12: 81,965,018 (GRCm39) T395I probably damaging Het
Pdgfb A C 15: 79,885,923 (GRCm39) V108G probably damaging Het
Prpf40b T C 15: 99,214,357 (GRCm39) S846P probably benign Het
Ptprc T A 1: 138,006,254 (GRCm39) H752L probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Scn3a A G 2: 65,356,295 (GRCm39) probably benign Het
Sco1 T G 11: 66,954,846 (GRCm39) S284A probably benign Het
Slc25a10 T A 11: 120,388,265 (GRCm39) M227K probably damaging Het
Sox8 A G 17: 25,789,271 (GRCm39) Y76H probably damaging Het
Spdya A C 17: 71,863,309 (GRCm39) K19N possibly damaging Het
Syngap1 C T 17: 27,171,315 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tbl3 A G 17: 24,923,695 (GRCm39) V239A probably damaging Het
Tenm2 T C 11: 35,937,901 (GRCm39) I1592V probably benign Het
Vmn2r109 T A 17: 20,774,074 (GRCm39) D427V probably benign Het
Vmn2r115 A G 17: 23,579,017 (GRCm39) K830R probably damaging Het
Vmn2r45 A T 7: 8,474,580 (GRCm39) L816* probably null Het
Zfp335 C T 2: 164,743,380 (GRCm39) R536H probably damaging Het
Zfp777 T A 6: 48,019,046 (GRCm39) Q296L 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
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'- TGGAAAGCCAGAATAGGAGTCT -3'
(R):5'- CTGTGCTTGTTTAAATTTGGCAG -3'

Sequencing Primer
(F):5'- CTCCCCCAAAAGTGGATA -3'
(R):5'- TGCTTGTTTAAATTTGGCAGTTAATG -3'
Posted On 2015-04-30