Incidental Mutation 'R5096:Cthrc1'
ID 388055
Institutional Source Beutler Lab
Gene Symbol Cthrc1
Ensembl Gene ENSMUSG00000054196
Gene Name collagen triple helix repeat containing 1
Synonyms 1110014B07Rik
MMRRC Submission 042685-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5096 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 38940327-38950516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38947815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 104 (I104N)
Ref Sequence ENSEMBL: ENSMUSP00000153886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067072] [ENSMUST00000226433]
AlphaFold Q9D1D6
Predicted Effect probably damaging
Transcript: ENSMUST00000067072
AA Change: I178N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: I178N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144800
Predicted Effect probably damaging
Transcript: ENSMUST00000226433
AA Change: I104N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.4766 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 95% (61/64)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,916,679 (GRCm39) probably benign Het
Adar T A 3: 89,654,598 (GRCm39) *728C probably null Het
Ap3b1 A G 13: 94,616,357 (GRCm39) R753G unknown Het
Atp9b C T 18: 80,805,399 (GRCm39) V720I probably benign Het
AY358078 A C 14: 52,063,575 (GRCm39) D407A probably benign Het
Ccdc185 A G 1: 182,576,354 (GRCm39) S112P possibly damaging Het
Cir1 A G 2: 73,134,105 (GRCm39) S155P probably damaging Het
Colq C T 14: 31,274,911 (GRCm39) E76K possibly damaging Het
D930020B18Rik A T 10: 121,503,709 (GRCm39) I92L probably benign Het
Eif3i C T 4: 129,494,237 (GRCm39) E21K probably damaging Het
Fam114a1 T A 5: 65,137,234 (GRCm39) M59K probably benign Het
Fam163b A G 2: 27,002,761 (GRCm39) S79P probably benign Het
Fam181b T G 7: 92,730,452 (GRCm39) probably benign Het
Fsip2 G A 2: 82,821,460 (GRCm39) S5731N probably benign Het
Fzd9 C T 5: 135,278,713 (GRCm39) V391I probably damaging Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm10715 T C 9: 3,038,157 (GRCm39) probably benign Het
Grhl1 A T 12: 24,653,049 (GRCm39) K418M probably damaging Het
H2-Q4 T A 17: 35,598,689 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,486,420 (GRCm39) A4329S probably damaging Het
Hspa8 T C 9: 40,714,197 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,313 (GRCm39) T26A possibly damaging Het
Ifi209 T A 1: 173,472,300 (GRCm39) N380K probably benign Het
Inpp5e G T 2: 26,289,537 (GRCm39) N482K probably damaging Het
Iqsec3 C T 6: 121,363,657 (GRCm39) V866M probably damaging Het
Kbtbd2 A G 6: 56,756,260 (GRCm39) V492A probably benign Het
Kcnb2 A G 1: 15,781,068 (GRCm39) R647G probably benign Het
Lcmt1 T G 7: 123,000,691 (GRCm39) V75G probably damaging Het
Lrp4 A G 2: 91,316,137 (GRCm39) I752V possibly damaging Het
Mmp17 C A 5: 129,682,627 (GRCm39) P422Q probably damaging Het
Myo3a A T 2: 22,464,254 (GRCm39) H165L probably benign Het
Nos3 C T 5: 24,576,955 (GRCm39) T494I probably damaging Het
Or1ak2 T C 2: 36,827,815 (GRCm39) V228A possibly damaging Het
Or4p22 C T 2: 88,317,646 (GRCm39) T190I possibly damaging Het
Or51q1c T C 7: 103,652,667 (GRCm39) Y68H probably benign Het
Or8u8 A G 2: 86,012,276 (GRCm39) Y60H probably damaging Het
Pkn2 A C 3: 142,545,092 (GRCm39) V27G probably damaging Het
Scube2 T C 7: 109,398,451 (GRCm39) probably benign Het
Skint7 A G 4: 111,839,152 (GRCm39) I149V probably damaging Het
Smc4 T A 3: 68,928,612 (GRCm39) I412K probably damaging Het
Snx19 T A 9: 30,340,082 (GRCm39) C407S probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sytl2 T A 7: 90,025,290 (GRCm39) I426N possibly damaging Het
Tbce A T 13: 14,203,990 (GRCm39) probably benign Het
Tdpoz2 T C 3: 93,559,819 (GRCm39) E51G possibly damaging Het
Tmem221 A G 8: 72,011,353 (GRCm39) L34P probably damaging Het
Tmem92 T C 11: 94,669,862 (GRCm39) T90A probably benign Het
Tpr A G 1: 150,321,953 (GRCm39) D42G probably damaging Het
Wt1 A G 2: 104,973,470 (GRCm39) T237A probably damaging 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
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
R7983:Cthrc1 UTSW 15 38,940,550 (GRCm39) missense probably benign 0.00
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'- ACCAGCACAGGTTAGATGGG -3'
(R):5'- CAGCTAGAGGACTATGGACCAG -3'

Sequencing Primer
(F):5'- ATCAGTGGAGTCTCAAAGGCCTC -3'
(R):5'- GGACCAGCTAGAGGTTTATTTCTAAC -3'
Posted On 2016-06-06