Incidental Mutation 'IGL03390:Cthrc1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cthrc1
Ensembl Gene ENSMUSG00000054196
Gene Namecollagen triple helix repeat containing 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03390
Quality Score
Chromosomal Location39076932-39087121 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39077134 bp
Amino Acid Change Isoleucine to Asparagine at position 44 (I44N)
Ref Sequence ENSEMBL: ENSMUSP00000070018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067072] [ENSMUST00000226433]
Predicted Effect probably benign
Transcript: ENSMUST00000067072
AA Change: I44N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: I44N

signal peptide 1 32 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000132192
AA Change: I18N
Predicted Effect probably benign
Transcript: ENSMUST00000226433
AA Change: I44N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Adult mice homozygous for a null allele exhibit decreased bone, decreased osteoblast number and decreased bone formation. Mice homozygous for a different knock-out allele exhibit increased hepatocyte size, decreased cell density in the liver, hepatic steatosis and increased glycogen storage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 124,839,825 probably benign Het
Ccdc18 A G 5: 108,212,131 Y1127C probably damaging Het
Cdnf T A 2: 3,523,826 L134* probably null Het
Col11a1 A G 3: 114,090,253 D257G unknown Het
Dlec1 T C 9: 119,123,220 Y545H probably benign Het
Drosha T G 15: 12,884,983 probably null Het
Ebf2 A G 14: 67,424,109 N562S probably benign Het
Fem1b G A 9: 62,796,964 A338V probably benign Het
Gga3 A T 11: 115,586,994 probably null Het
Gm7247 A T 14: 51,523,457 H161L probably benign Het
Gm7367 A G 7: 60,155,769 noncoding transcript Het
Inpp5a T G 7: 139,525,748 V213G probably benign Het
Kcns3 T C 12: 11,091,232 T489A probably benign Het
Kifc3 G A 8: 95,108,613 A211V probably damaging Het
Krt71 T C 15: 101,734,552 D507G possibly damaging Het
Lama5 T C 2: 180,207,218 Y224C probably damaging Het
Lrrc37a A G 11: 103,496,031 L2421P unknown Het
Mtch2 C T 2: 90,859,550 T205I probably benign Het
Olfr108 T C 17: 37,446,364 V281A probably benign Het
Prkdc T A 16: 15,670,626 C537* probably null Het
Prl2a1 T C 13: 27,801,716 V5A probably benign Het
Prob1 T C 18: 35,654,139 Y354C probably benign Het
Rimklb C T 6: 122,456,321 S347N possibly damaging Het
Rnase2a T C 14: 51,255,488 D140G probably damaging Het
Ryr2 G A 13: 11,772,416 P1017S probably benign Het
Slc3a1 A G 17: 85,032,777 D209G probably damaging Het
Sntn T A 14: 13,682,205 probably benign Het
Tal2 G T 4: 53,785,994 L58F probably damaging Het
Trim39 T C 17: 36,260,571 K432E probably damaging Het
Trmt5 A T 12: 73,282,727 M219K probably benign Het
Vmn2r3 T A 3: 64,275,346 I311L possibly damaging Het
Wfdc17 A T 11: 83,704,785 probably benign Het
Zbtb6 T G 2: 37,429,572 I115L probably damaging Het
Zfp750 A T 11: 121,511,944 C659* probably null Het
Other mutations in Cthrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Cthrc1 APN 15 39080499 missense possibly damaging 0.95
IGL02532:Cthrc1 APN 15 39077165 splice site probably benign
IGL02954:Cthrc1 APN 15 39076994 utr 5 prime probably benign
R0390:Cthrc1 UTSW 15 39086764 makesense probably null
R0594:Cthrc1 UTSW 15 39077142 missense possibly damaging 0.95
R1491:Cthrc1 UTSW 15 39086677 missense probably damaging 1.00
R4454:Cthrc1 UTSW 15 39077013 missense probably benign 0.18
R5096:Cthrc1 UTSW 15 39084420 missense probably damaging 0.99
R5860:Cthrc1 UTSW 15 39086685 missense probably damaging 1.00
R7082:Cthrc1 UTSW 15 39077100 missense probably benign
R7717:Cthrc1 UTSW 15 39077116 missense probably benign
Posted On2016-08-02