Incidental Mutation 'IGL02532: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 #IGL02532
Quality Score
Chromosomal Location39076932-39087121 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 39077165 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067072] [ENSMUST00000226433]
Predicted Effect probably benign
Transcript: ENSMUST00000067072
SMART Domains Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196

signal peptide 1 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132192
Predicted Effect probably benign
Transcript: ENSMUST00000226433
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A C 6: 96,164,790 S424R probably damaging Het
2200002D01Rik T C 7: 29,248,220 K15E possibly damaging Het
Abca2 A G 2: 25,435,136 T381A probably benign Het
Adcy1 T A 11: 7,144,737 N554K probably benign Het
Adcy5 A G 16: 35,272,083 I605V possibly damaging Het
Arhgap11a G T 2: 113,833,676 S754* probably null Het
Arhgef28 T A 13: 98,029,883 D319V probably damaging Het
Brca2 A G 5: 150,550,862 D2410G probably damaging Het
Carmil2 T A 8: 105,692,431 probably null Het
Catip A G 1: 74,364,616 N189S probably damaging Het
Cd177 T C 7: 24,745,249 K636E probably benign Het
Cep290 A G 10: 100,545,065 T145A probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fas C A 19: 34,316,599 T118N probably damaging Het
Fgd3 G A 13: 49,285,761 A253V probably damaging Het
Fig4 A G 10: 41,285,281 probably benign Het
Fubp3 T C 2: 31,600,559 probably benign Het
Gria2 T A 3: 80,706,999 E578V probably damaging Het
Gtpbp1 T A 15: 79,720,077 V662E probably benign Het
Hbb-bt T C 7: 103,813,874 probably benign Het
Ighv6-5 T A 12: 114,416,804 D50V probably benign Het
Inpp5k T C 11: 75,633,184 probably benign Het
Kalrn T C 16: 34,360,846 N141D probably damaging Het
Kbtbd8 A G 6: 95,126,536 T389A probably benign Het
Klhl6 C A 16: 19,957,082 R242L possibly damaging Het
Kmt2b T C 7: 30,586,889 probably benign Het
Krt13 A T 11: 100,119,369 L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 K270E possibly damaging Het
Mroh7 A G 4: 106,720,591 S297P probably benign Het
Ndufs1 G A 1: 63,170,139 R22C probably damaging Het
Nlrp5 T A 7: 23,409,973 S115T possibly damaging Het
Pfpl A T 19: 12,428,845 R153S probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Psme1 T A 14: 55,581,138 Y223* probably null Het
R3hdm1 T C 1: 128,197,099 probably null Het
Rnf103 T G 6: 71,509,652 S422R probably damaging Het
Rnf103 A G 6: 71,509,825 D480G probably benign Het
Rps6ka2 T C 17: 7,255,966 V213A probably damaging Het
Sort1 G T 3: 108,325,720 K203N probably benign Het
Sugp1 A T 8: 70,059,819 K239N possibly damaging Het
Sult2a8 C T 7: 14,416,258 R176K probably benign Het
Usp34 T A 11: 23,370,291 N888K probably damaging Het
Vmn1r4 A C 6: 56,957,150 H213P possibly damaging Het
Wdr45b G T 11: 121,328,813 T303K probably benign Het
Other mutations in Cthrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Cthrc1 APN 15 39080499 missense possibly damaging 0.95
IGL02954:Cthrc1 APN 15 39076994 utr 5 prime probably benign
IGL03390:Cthrc1 APN 15 39077134 missense probably benign 0.00
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
R7983:Cthrc1 UTSW 15 39077155 missense probably benign 0.00
Posted On2015-04-16