Incidental Mutation 'R8063:Canx'
ID 619856
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 067499-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R8063 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 50199173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 165 (Y165*)
Ref Sequence ENSEMBL: ENSMUSP00000020637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]
AlphaFold P35564
Predicted Effect probably null
Transcript: ENSMUST00000020637
AA Change: Y165*
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: Y165*

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
AA Change: Y165*
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: Y165*

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 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,190 (GRCm39) I248N possibly damaging Het
Agk T A 6: 40,306,490 (GRCm39) C20S possibly damaging Het
Alpk2 G A 18: 65,483,417 (GRCm39) S197L probably benign Het
Armc10 T C 5: 21,853,768 (GRCm39) probably null Het
Asxl2 A G 12: 3,550,768 (GRCm39) T837A probably benign Het
Atp12a A G 14: 56,603,545 (GRCm39) E50G probably damaging Het
Bend5 G T 4: 111,317,031 (GRCm39) C398F probably damaging Het
Bicra A G 7: 15,712,969 (GRCm39) V1026A probably benign Het
Casp14 A G 10: 78,549,865 (GRCm39) F210L probably damaging Het
Cep70 T A 9: 99,178,175 (GRCm39) D458E probably benign Het
Cisd3 T C 11: 97,576,710 (GRCm39) V12A probably benign Het
Cnot4 A T 6: 35,045,578 (GRCm39) M211K probably damaging Het
Cyp4f18 A G 8: 72,752,075 (GRCm39) L197P probably damaging Het
Dnah5 T A 15: 28,230,729 (GRCm39) I209N probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Edem2 A T 2: 155,544,376 (GRCm39) M458K probably benign Het
Eif2ak4 G A 2: 118,241,382 (GRCm39) E178K possibly damaging Het
Fars2 G A 13: 36,388,880 (GRCm39) W123* probably null Het
Ighv1-20 T C 12: 114,687,405 (GRCm39) Y113C probably damaging Het
Il18r1 T A 1: 40,526,198 (GRCm39) I248N probably benign Het
Impg2 T A 16: 56,081,819 (GRCm39) probably benign Het
Kcnh2 T C 5: 24,526,670 (GRCm39) E1042G probably benign Het
Krt42 G C 11: 100,155,865 (GRCm39) R294G possibly damaging Het
Lasp1 T C 11: 97,724,957 (GRCm39) Y188H probably benign Het
Lrrc37 T C 11: 103,433,087 (GRCm39) T3361A unknown Het
Lrrc52 A G 1: 167,294,090 (GRCm39) I65T probably damaging Het
Megf9 A G 4: 70,406,495 (GRCm39) C224R probably damaging Het
Ms4a10 T C 19: 10,942,136 (GRCm39) T162A probably benign Het
Mstn T A 1: 53,105,607 (GRCm39) F316L probably benign Het
Ndufs8 T C 19: 3,961,019 (GRCm39) Y86C probably damaging Het
Or10d4b A T 9: 39,534,823 (GRCm39) I133F probably damaging Het
Pappa2 C T 1: 158,764,126 (GRCm39) D462N possibly damaging Het
Rad51d A G 11: 82,780,597 (GRCm39) S62P probably benign Het
Ralgapa2 A G 2: 146,285,775 (GRCm39) Y388H probably damaging Het
Rdm1 C A 11: 101,521,694 (GRCm39) Q150K probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Sctr T C 1: 119,991,005 (GRCm39) V446A probably benign Het
Sin3b G A 8: 73,452,169 (GRCm39) D71N probably damaging Het
Sirt5 A T 13: 43,524,323 (GRCm39) T32S probably benign Het
Slc17a1 T C 13: 24,059,524 (GRCm39) V85A probably benign Het
Snx1 C T 9: 66,004,676 (GRCm39) probably benign Het
Sorcs1 T A 19: 50,132,415 (GRCm39) D1181V unknown Het
Tcof1 A G 18: 60,971,834 (GRCm39) S158P probably damaging Het
Tet3 T C 6: 83,379,723 (GRCm39) D815G probably damaging Het
Tnfsf11 A T 14: 78,516,098 (GRCm39) I290N probably damaging Het
Uba6 A T 5: 86,300,544 (GRCm39) N225K probably benign Het
Usp30 A G 5: 114,238,524 (GRCm39) T11A probably benign Het
Vmn1r5 T G 6: 56,962,583 (GRCm39) M86R probably damaging Het
Vmn2r26 T A 6: 124,001,914 (GRCm39) H66Q probably benign Het
Vps13d T C 4: 144,841,327 (GRCm39) E2647G Het
Wdr5b T A 16: 35,862,158 (GRCm39) D92E possibly damaging Het
Zfp960 C A 17: 17,308,623 (GRCm39) R446S probably benign Het
Zscan20 C T 4: 128,480,028 (GRCm39) S821N probably benign 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
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'- GTGCCAAGTCTCCATGGTTC -3'
(R):5'- AGACAATGGAACCTTTTGTGTG -3'

Sequencing Primer
(F):5'- GGTTCACCAGCAGCAGCATTTC -3'
(R):5'- GTGTGGGTATGACATCTGATAAAAC -3'
Posted On 2020-01-23