Incidental Mutation 'IGL03089:Canx'
ID 418290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # IGL03089
Quality Score
Status
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50195309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 253 (V253A)
Ref Sequence ENSEMBL: ENSMUSP00000137440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]
AlphaFold P35564
Predicted Effect possibly damaging
Transcript: ENSMUST00000020637
AA Change: V253A

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: V253A

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: ENSMUST00000155801
Predicted Effect possibly damaging
Transcript: ENSMUST00000179865
AA Change: V253A

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: V253A

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Ccn3 C T 15: 54,612,680 (GRCm39) R230C possibly damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Clptm1 A G 7: 19,371,072 (GRCm39) Y355H probably damaging Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Elmod3 A G 6: 72,546,299 (GRCm39) S254P probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fbxw4 T G 19: 45,580,160 (GRCm39) probably benign Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Klhl26 A T 8: 70,908,283 (GRCm39) N24K probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or2h1b A G 17: 37,462,534 (GRCm39) C110R probably damaging Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign Het
Other mutations in Canx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Canx APN 11 50,191,823 (GRCm39) missense possibly damaging 0.61
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
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
Posted On 2016-08-02