Incidental Mutation 'R7983:Cthrc1'
ID 651335
Institutional Source Beutler Lab
Gene Symbol Cthrc1
Ensembl Gene ENSMUSG00000054196
Gene Name collagen triple helix repeat containing 1
Synonyms 1110014B07Rik
MMRRC Submission 046024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7983 (G1)
Quality Score 98.0078
Status Validated
Chromosome 15
Chromosomal Location 38940327-38950516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38940550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 51 (D51G)
Ref Sequence ENSEMBL: ENSMUSP00000070018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067072] [ENSMUST00000226433]
AlphaFold Q9D1D6
Predicted Effect probably benign
Transcript: ENSMUST00000067072
AA Change: D51G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: D51G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000226433
AA Change: D51G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (39/41)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casd1 G T 6: 4,624,472 (GRCm39) E422* probably null Het
Ccdc7a T C 8: 129,607,559 (GRCm39) T1007A possibly damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cds2 T G 2: 132,105,430 (GRCm39) probably null Het
Cfap100 G A 6: 90,392,687 (GRCm39) T141I Het
Chd7 T A 4: 8,752,628 (GRCm39) M375K unknown Het
Chd7 T A 4: 8,844,609 (GRCm39) S1573T possibly damaging Het
Cplane1 T A 15: 8,251,299 (GRCm39) V1857E probably benign Het
Crybb2 T C 5: 113,209,946 (GRCm39) E139G probably benign Het
Csn2 T C 5: 87,842,356 (GRCm39) T224A probably benign Het
Csnk2b T C 17: 35,335,304 (GRCm39) H231R possibly damaging Het
Cyp2a5 A T 7: 26,539,866 (GRCm39) T305S probably benign Het
Cyp4a29 A T 4: 115,108,099 (GRCm39) D307V probably damaging Het
Dhrs7b T C 11: 60,743,287 (GRCm39) V188A possibly damaging Het
Dna2 A G 10: 62,791,173 (GRCm39) D224G probably benign Het
Dnah7b T A 1: 46,282,584 (GRCm39) L2906M probably damaging Het
Eif4g3 A T 4: 137,878,904 (GRCm39) E545D probably benign Het
Foxq1 T C 13: 31,743,972 (GRCm39) F358S possibly damaging Het
Galnt16 C T 12: 80,648,598 (GRCm39) H557Y probably benign Het
Kcnb2 T C 1: 15,383,004 (GRCm39) M110T probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Nalcn T C 14: 123,830,409 (GRCm39) I144V probably benign Het
Napsa T A 7: 44,234,751 (GRCm39) N295K possibly damaging Het
Nup50l C A 6: 96,142,888 (GRCm39) G52V probably damaging Het
Or2ag20 T C 7: 106,464,958 (GRCm39) V257A probably benign Het
Or5k1b G A 16: 58,581,377 (GRCm39) S54F probably benign Het
Plch1 T C 3: 63,615,164 (GRCm39) D778G probably damaging Het
Pnlip G A 19: 58,668,491 (GRCm39) V361I probably benign Het
Pou4f2 G T 8: 79,161,568 (GRCm39) A345E probably benign Het
Prr11 C T 11: 86,982,637 (GRCm39) D365N possibly damaging Het
Ptprq G T 10: 107,444,272 (GRCm39) S1444* probably null Het
R3hdm4 A T 10: 79,748,557 (GRCm39) V129E probably damaging Het
Retnlg T C 16: 48,693,261 (GRCm39) S13P probably damaging Het
Rgmb T C 17: 16,041,189 (GRCm39) T133A possibly damaging Het
Rin3 A C 12: 102,335,418 (GRCm39) H443P probably benign Het
Rnf152 T C 1: 105,212,089 (GRCm39) D156G probably benign Het
Sfmbt1 A G 14: 30,519,673 (GRCm39) probably null Het
Slc25a46 G A 18: 31,716,483 (GRCm39) R340C probably damaging Het
Sp4 A T 12: 118,264,967 (GRCm39) M1K probably null Het
Ss18l2 T C 9: 121,541,675 (GRCm39) I64T probably damaging Het
Sult2a4 G A 7: 13,649,152 (GRCm39) S219F probably damaging Het
Tnip3 A C 6: 65,515,630 (GRCm39) D25A probably damaging Het
Trac A G 14: 54,458,214 (GRCm39) T79A Het
Vmn2r36 A G 7: 7,905,415 (GRCm39) L16P probably damaging Het
Zswim2 A G 2: 83,753,911 (GRCm39) probably null Het
Other mutations in Cthrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Cthrc1 APN 15 38,943,894 (GRCm39) missense possibly damaging 0.95
IGL02532:Cthrc1 APN 15 38,940,560 (GRCm39) splice site probably benign
IGL02954:Cthrc1 APN 15 38,940,389 (GRCm39) utr 5 prime probably benign
IGL03390:Cthrc1 APN 15 38,940,529 (GRCm39) missense probably benign 0.00
R0390:Cthrc1 UTSW 15 38,950,159 (GRCm39) makesense probably null
R0594:Cthrc1 UTSW 15 38,940,537 (GRCm39) missense possibly damaging 0.95
R1491:Cthrc1 UTSW 15 38,950,072 (GRCm39) missense probably damaging 1.00
R4454:Cthrc1 UTSW 15 38,940,408 (GRCm39) missense probably benign 0.18
R5096:Cthrc1 UTSW 15 38,947,815 (GRCm39) missense probably damaging 0.99
R5860:Cthrc1 UTSW 15 38,950,080 (GRCm39) missense probably damaging 1.00
R7082:Cthrc1 UTSW 15 38,940,495 (GRCm39) missense probably benign
R7717:Cthrc1 UTSW 15 38,940,511 (GRCm39) missense probably benign
R8710:Cthrc1 UTSW 15 38,947,821 (GRCm39) missense probably damaging 1.00
R8812:Cthrc1 UTSW 15 38,947,866 (GRCm39) missense probably damaging 1.00
R8889:Cthrc1 UTSW 15 38,940,445 (GRCm39) missense probably damaging 0.99
R9449:Cthrc1 UTSW 15 38,947,868 (GRCm39) missense probably benign 0.19
R9467:Cthrc1 UTSW 15 38,947,689 (GRCm39) missense probably benign 0.00
R9625:Cthrc1 UTSW 15 38,947,874 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCAGTGAAAGGCGCATTG -3'
(R):5'- AGCGGTTCAAGACTCTGCTG -3'

Sequencing Primer
(F):5'- CATTGATGCGGCAGGCTG -3'
(R):5'- TTCAAGACTCTGCTGCAGGC -3'
Posted On 2020-09-15