Incidental Mutation 'R4402:Canx'
ID 326684
Institutional Source Beutler Lab
Gene Symbol Canx
Ensembl Gene ENSMUSG00000020368
Gene Name calnexin
Synonyms CNX, 1110069N15Rik
MMRRC Submission 042003-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R4402 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50184788-50216500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50195265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 268 (T268A)
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: T268A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020637
Gene: ENSMUSG00000020368
AA Change: T268A

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 probably benign
Transcript: ENSMUST00000179865
AA Change: T268A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137440
Gene: ENSMUSG00000020368
AA Change: T268A

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
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (61/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,020 (GRCm39) H167Q probably benign Het
Adamts20 T C 15: 94,277,827 (GRCm39) T212A probably benign Het
Ap3b1 C A 13: 94,554,607 (GRCm39) L248I probably damaging Het
Atl1 T G 12: 70,005,973 (GRCm39) D426E probably benign Het
Cage1 T A 13: 38,207,078 (GRCm39) I256F probably damaging Het
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Chd7 A T 4: 8,866,353 (GRCm39) M842L possibly damaging Het
Clca4a T C 3: 144,658,609 (GRCm39) T787A probably benign Het
Clstn3 T C 6: 124,433,939 (GRCm39) Y407C probably damaging Het
Copa C A 1: 171,929,791 (GRCm39) T286N probably damaging Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Def6 A G 17: 28,438,950 (GRCm39) K219E probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Eif5 A T 12: 111,508,183 (GRCm39) K161N probably benign Het
Fras1 C A 5: 96,790,479 (GRCm39) T951K probably damaging Het
Gen1 A T 12: 11,292,363 (GRCm39) N475K possibly damaging Het
Gm14569 T C X: 35,697,146 (GRCm39) Y521C probably benign Het
Gm6124 T A 7: 38,870,529 (GRCm39) noncoding transcript Het
Gpt2 A T 8: 86,252,188 (GRCm39) D501V probably benign Het
Gstm2 T C 3: 107,893,370 (GRCm39) K31R probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Itga1 T A 13: 115,138,102 (GRCm39) M428L probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnn4 T C 7: 24,076,867 (GRCm39) W139R probably benign Het
Kdm7a T A 6: 39,143,602 (GRCm39) R380W probably null Het
Khdrbs1 T G 4: 129,635,889 (GRCm39) D22A possibly damaging Het
Liph A T 16: 21,795,000 (GRCm39) I204N probably damaging Het
Loxhd1 A G 18: 77,529,456 (GRCm39) E2033G possibly damaging Het
M6pr C T 6: 122,291,982 (GRCm39) probably benign Het
Mrm1 A G 11: 84,709,915 (GRCm39) I95T probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mug1 C A 6: 121,856,311 (GRCm39) F1030L probably damaging Het
Naca C T 10: 127,879,341 (GRCm39) probably benign Het
Nob1 A T 8: 108,145,120 (GRCm39) probably benign Het
Nutm1 A C 2: 112,080,154 (GRCm39) I587R probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Pcdhb2 A G 18: 37,428,455 (GRCm39) K143E probably benign Het
Pcnt T C 10: 76,228,227 (GRCm39) Q1646R probably benign Het
Piwil2 A T 14: 70,646,365 (GRCm39) D390E probably benign Het
Pkhd1 A G 1: 20,309,635 (GRCm39) L2771P probably damaging Het
Pla2g1b T A 5: 115,608,947 (GRCm39) Y47* probably null Het
Plekhn1 T C 4: 156,309,813 (GRCm39) T135A probably damaging Het
Pola1 T C X: 92,605,029 (GRCm39) Y968C probably damaging Het
Ppp1r26 C A 2: 28,341,618 (GRCm39) T416K probably benign Het
Psmd1 A G 1: 86,003,673 (GRCm39) I153V possibly damaging Het
Rcan2 A G 17: 44,264,361 (GRCm39) D7G probably benign Het
Rexo5 T C 7: 119,433,599 (GRCm39) I326T possibly damaging Het
Rps6kc1 A G 1: 190,530,802 (GRCm39) probably benign Het
Shc1 T C 3: 89,333,985 (GRCm39) S273P probably benign Het
Slc9b2 T C 3: 135,042,305 (GRCm39) V528A probably benign Het
Tas2r118 T C 6: 23,969,293 (GRCm39) K256R probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tnfaip2 T C 12: 111,416,285 (GRCm39) F516L probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Wdr35 A G 12: 9,039,981 (GRCm39) D362G probably damaging Het
Wwp2 T C 8: 108,184,610 (GRCm39) V106A probably benign Het
Zfp40 T A 17: 23,395,693 (GRCm39) H230L possibly damaging Het
Zkscan17 T A 11: 59,393,848 (GRCm39) M1L possibly 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
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'- AGAGTAATTGGAACTTAAGTCCCC -3'
(R):5'- TCCTCTAGAAGGCATGATCTGTTG -3'

Sequencing Primer
(F):5'- CTTGCAAGCAAGCATAGGGTCTTAC -3'
(R):5'- CTAGAAGGCATGATCTGTTGTGTTAG -3'
Posted On 2015-07-07