Incidental Mutation 'R4454:Cthrc1'
ID 371161
Institutional Source Beutler Lab
Gene Symbol Cthrc1
Ensembl Gene ENSMUSG00000054196
Gene Name collagen triple helix repeat containing 1
Synonyms 1110014B07Rik
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4454 (G1)
Quality Score 78
Status Validated
Chromosome 15
Chromosomal Location 38940327-38950516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38940408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 4 (Q4K)
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: Q4K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: Q4K

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132192
Predicted Effect unknown
Transcript: ENSMUST00000226433
AA Change: Q4K
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Ddo A T 10: 40,523,543 (GRCm39) I178F probably damaging Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Or8b1b C A 9: 38,375,938 (GRCm39) F200L probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Shoc1 T C 4: 59,092,383 (GRCm39) D266G possibly damaging Het
Snapc3 A G 4: 83,336,996 (GRCm39) E119G probably damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfp995 G A 17: 22,098,932 (GRCm39) T434I probably benign Het
Zfy1 G T Y: 725,518 (GRCm39) T749K possibly 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
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
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'- TAACAGTATGCAAGCTCCGGG -3'
(R):5'- ATCTATACTGATGCCCTCCCGG -3'

Sequencing Primer
(F):5'- CTCAGTGAAAGGCGCATT -3'
(R):5'- GCGATCCTGGCTGAGTCTTC -3'
Posted On 2016-02-29