Incidental Mutation 'R8494:Canx'
ID 658197
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 067936-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R8494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 50202609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]
AlphaFold P35564
Predicted Effect probably benign
Transcript: ENSMUST00000020637
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368

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 null
Transcript: ENSMUST00000179865
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,327,821 (GRCm39) M1420L probably benign Het
Adamts14 T A 10: 61,038,708 (GRCm39) H934L probably benign Het
Adamtsl1 T C 4: 86,240,221 (GRCm39) C661R probably damaging Het
Akap5 A G 12: 76,376,455 (GRCm39) D629G probably benign Het
Anapc16 A T 10: 59,832,340 (GRCm39) probably benign Het
Ankar T C 1: 72,697,953 (GRCm39) I758V probably benign Het
Apc2 G T 10: 80,150,313 (GRCm39) R1760L probably damaging Het
C1qb T C 4: 136,608,115 (GRCm39) T83A probably benign Het
Cblb T A 16: 52,025,003 (GRCm39) I966K probably damaging Het
Crocc2 A T 1: 93,144,788 (GRCm39) Q1444L probably damaging Het
Dennd4c C T 4: 86,759,312 (GRCm39) P1781S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah5 A C 15: 28,345,977 (GRCm39) N2439T probably benign Het
Dsg3 T A 18: 20,673,271 (GRCm39) Y981N probably benign Het
Esrp2 C T 8: 106,861,350 (GRCm39) V150M probably damaging Het
Fbxo15 T G 18: 84,982,252 (GRCm39) F235V probably damaging Het
Ffar2 A T 7: 30,519,164 (GRCm39) Y125* probably null Het
Gm1110 T A 9: 26,792,154 (GRCm39) D622V probably benign Het
Gpcpd1 A G 2: 132,386,355 (GRCm39) V341A probably damaging Het
Gpx3 G A 11: 54,793,846 (GRCm39) V19I probably benign Het
Hadha T C 5: 30,347,810 (GRCm39) I160M probably damaging Het
Igkv3-4 G T 6: 70,649,147 (GRCm39) V49F probably damaging Het
Kcng1 A G 2: 168,105,018 (GRCm39) V276A probably damaging Het
Kif7 A T 7: 79,360,145 (GRCm39) V364D probably benign Het
Kirrel3 A G 9: 34,902,341 (GRCm39) I182V probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mcm9 G A 10: 53,501,856 (GRCm39) T243M possibly damaging Het
Micall1 T C 15: 79,005,080 (GRCm39) L184P probably damaging Het
Mief1 T A 15: 80,133,593 (GRCm39) C217S probably benign Het
Mier2 T C 10: 79,377,546 (GRCm39) D469G probably damaging Het
Mst1r T G 9: 107,791,718 (GRCm39) W799G possibly damaging Het
Mybpc1 C T 10: 88,362,291 (GRCm39) V950I probably benign Het
Neurl4 A G 11: 69,801,871 (GRCm39) D1296G probably benign Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Parg T A 14: 31,930,978 (GRCm39) H199Q probably benign Het
Pcnx3 C A 19: 5,725,404 (GRCm39) D1170Y probably damaging Het
Phactr1 T A 13: 43,250,144 (GRCm39) V487E probably damaging Het
Selp T G 1: 163,957,835 (GRCm39) probably null Het
Smpd3 T C 8: 106,981,982 (GRCm39) E626G probably damaging Het
Syn3 A G 10: 86,190,265 (GRCm39) L188P probably damaging Het
Tle1 T C 4: 72,043,241 (GRCm39) I543V possibly damaging Het
Trp53rkb A G 2: 166,637,779 (GRCm39) *245W probably null Het
Ttc28 A G 5: 111,383,506 (GRCm39) R1336G probably damaging Het
Vps13b T A 15: 35,422,594 (GRCm39) W185R 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
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
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'- ACTGATCTGCTTCAAACCTTTG -3'
(R):5'- GGGAAACAGTACATTTCACATTCC -3'

Sequencing Primer
(F):5'- TTCAAACCTTTGGAGATGGAGG -3'
(R):5'- TGAGACAGGGTTTCTCTG -3'
Posted On 2021-01-18