Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Cthrc1'

56165

Institutional Source

Beutler Lab

Gene Symbol

Cthrc1

Ensembl Gene

ENSMUSG00000054196

Gene Name

collagen triple helix repeat containing 1

Synonyms

1110014B07Rik

MMRRC Submission

038784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0594 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

38940327-38950516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38940537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 47 (R47W)

Ref Sequence

ENSEMBL: ENSMUSP00000070018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067072] [ENSMUST00000226433]

AlphaFold

Q9D1D6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067072
AA Change: R47W

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: R47W

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000132192
AA Change: R21W

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226433
AA Change: R47W

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.0970

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,207,744 (GRCm39)	V41A	probably benign	Het
Acad11	A	G	9: 103,972,762 (GRCm39)	Q367R	probably benign	Het
Ackr4	A	G	9: 103,976,203 (GRCm39)	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,038,666 (GRCm39)	E945G	probably damaging	Het
Ano2	A	G	6: 125,959,728 (GRCm39)	M663V	probably damaging	Het
Apc2	T	A	10: 80,142,090 (GRCm39)	C336*	probably null	Het
Arhgap17	A	G	7: 122,893,741 (GRCm39)	S560P	probably benign	Het
Arl5a	T	C	2: 52,295,026 (GRCm39)	D128G	probably damaging	Het
Atp6v0a2	C	A	5: 124,795,046 (GRCm39)	R678S	probably benign	Het
B4galnt2	C	A	11: 95,782,735 (GRCm39)	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,337,454 (GRCm39)	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,036,784 (GRCm39)	F241L	probably benign	Het
Cdh19	A	T	1: 110,853,597 (GRCm39)	D281E	probably benign	Het
Cdk5rap2	T	C	4: 70,273,050 (GRCm39)	E241G	probably damaging	Het
Cherp	A	T	8: 73,216,246 (GRCm39)		probably null	Het
Cpne9	T	A	6: 113,267,361 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 38,986,663 (GRCm39)	E145G	probably benign	Het
Dcaf4	T	A	12: 83,584,817 (GRCm39)		probably null	Het
Dgka	A	C	10: 128,568,979 (GRCm39)		probably benign	Het
Dhrs13	T	A	11: 77,925,351 (GRCm39)	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577 (GRCm39)	Y88F	probably damaging	Het
Dpp8	A	G	9: 64,944,280 (GRCm39)	T16A	probably damaging	Het
Dscc1	A	T	15: 54,952,448 (GRCm39)	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,525,091 (GRCm39)		probably benign	Het
Elf2	T	C	3: 51,163,874 (GRCm39)	T504A	possibly damaging	Het
Elk3	G	A	10: 93,101,022 (GRCm39)	S243F	probably damaging	Het
Ell2	A	G	13: 75,898,112 (GRCm39)	D93G	probably damaging	Het
Eln	G	T	5: 134,741,252 (GRCm39)		probably benign	Het
Eme1	C	T	11: 94,541,256 (GRCm39)	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,319,668 (GRCm39)	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,273,544 (GRCm39)		probably benign	Het
Fam170b	A	G	14: 32,558,271 (GRCm39)	K369E	unknown	Het
Fam187b	T	A	7: 30,676,579 (GRCm39)	C29*	probably null	Het
Fam20c	T	C	5: 138,752,392 (GRCm39)	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,324,114 (GRCm39)	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,845,482 (GRCm39)	Y421*	probably null	Het
Farp2	T	C	1: 93,504,222 (GRCm39)	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,199,628 (GRCm39)	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,584,526 (GRCm39)	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,302,387 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,620,526 (GRCm39)	D96G	possibly damaging	Het
Glt8d1	G	A	14: 30,732,367 (GRCm39)		probably null	Het
Gm7579	T	A	7: 141,766,121 (GRCm39)	C176S	unknown	Het
Gmpr2	A	G	14: 55,915,445 (GRCm39)	E272G	probably damaging	Het
Grin2b	T	C	6: 135,710,927 (GRCm39)	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,271,027 (GRCm39)		probably benign	Het
Htr3b	A	T	9: 48,858,931 (GRCm39)	V69E	probably benign	Het
Icam5	A	G	9: 20,946,894 (GRCm39)	N474S	probably benign	Het
Itgal	T	A	7: 126,913,232 (GRCm39)	S610T	probably damaging	Het
Jag1	T	A	2: 136,929,000 (GRCm39)	I819L	probably damaging	Het
Kif9	A	T	9: 110,340,408 (GRCm39)	E467V	probably benign	Het
Krit1	T	C	5: 3,873,694 (GRCm39)	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,724,302 (GRCm39)	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,497,207 (GRCm39)	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,042,687 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,339,985 (GRCm39)	D455E	probably damaging	Het
Mical2	A	T	7: 111,917,657 (GRCm39)	Y338F	probably damaging	Het
Mre11a	T	G	9: 14,726,505 (GRCm39)	S396A	probably benign	Het
Mrtfa	G	A	15: 80,901,375 (GRCm39)	T372I	probably damaging	Het
Mtarc2	T	C	1: 184,573,536 (GRCm39)	N121D	probably benign	Het
Myo3a	C	T	2: 22,436,370 (GRCm39)		probably benign	Het
Naca	T	C	10: 127,876,224 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,395,381 (GRCm39)	I996K	possibly damaging	Het
Ncbp1	A	G	4: 46,170,551 (GRCm39)	N742S	probably benign	Het
Ndufaf3	G	A	9: 108,444,122 (GRCm39)	A2V	probably benign	Het
Niban3	C	A	8: 72,051,779 (GRCm39)	A38E	probably benign	Het
Ntn5	G	T	7: 45,336,105 (GRCm39)	A47S	probably damaging	Het
Or10ag57	T	A	2: 87,218,298 (GRCm39)	I83N	probably damaging	Het
Or1e25	G	A	11: 73,494,218 (GRCm39)	E271K	probably benign	Het
Or1e32	T	C	11: 73,705,443 (GRCm39)	H155R	probably benign	Het
Or2a7	T	A	6: 43,151,541 (GRCm39)	V207E	possibly damaging	Het
Or6c207	T	C	10: 129,105,021 (GRCm39)	Y57C	possibly damaging	Het
Or9i1	G	T	19: 13,839,643 (GRCm39)	C162F	probably benign	Het
Otud7a	T	A	7: 63,377,220 (GRCm39)	L203*	probably null	Het
Pakap	A	G	4: 57,856,752 (GRCm39)	T694A	probably benign	Het
Pcdhb13	A	G	18: 37,576,984 (GRCm39)	Y454C	probably damaging	Het
Pdzph1	C	T	17: 59,261,474 (GRCm39)	V853M	possibly damaging	Het
Plec	A	G	15: 76,056,453 (GRCm39)	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746 (GRCm39)	E286K	probably damaging	Het
Polr2i	T	A	7: 29,932,170 (GRCm39)		probably null	Het
Ppp1r12b	A	G	1: 134,704,217 (GRCm39)	L879P	probably damaging	Het
Prf1	C	A	10: 61,139,501 (GRCm39)	Y486*	probably null	Het
Qsox2	T	G	2: 26,104,056 (GRCm39)	T325P	probably damaging	Het
Rab1b	G	T	19: 5,150,684 (GRCm39)		probably benign	Het
Rbm19	T	C	5: 120,266,381 (GRCm39)		probably null	Het
Rhobtb2	A	G	14: 70,031,397 (GRCm39)	V576A	probably benign	Het
Rnps1	G	A	17: 24,643,411 (GRCm39)	V215M	probably damaging	Het
Rps11	A	G	7: 44,773,706 (GRCm39)		probably benign	Het
Serpinb3d	C	T	1: 107,007,077 (GRCm39)	M210I	probably damaging	Het
Sgsm1	T	C	5: 113,458,428 (GRCm39)	T17A	probably benign	Het
Slc6a3	A	G	13: 73,686,761 (GRCm39)	T43A	probably damaging	Het
Sox4	C	G	13: 29,136,887 (GRCm39)	A40P	probably damaging	Het
Spry2	A	T	14: 106,130,744 (GRCm39)	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,246,742 (GRCm39)	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,150,375 (GRCm39)	D152G	probably benign	Het
Tbr1	T	C	2: 61,641,964 (GRCm39)	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,940,274 (GRCm39)	V258A	probably damaging	Het
Tirap	C	T	9: 35,100,057 (GRCm39)	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,431 (GRCm39)	V134D	probably damaging	Het
Tnr	A	G	1: 159,677,905 (GRCm39)	T97A	probably benign	Het
Tspan32	T	A	7: 142,569,347 (GRCm39)	F135L	probably damaging	Het
Ttn	T	C	2: 76,619,400 (GRCm39)	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,564,122 (GRCm39)	I251N	probably damaging	Het
Usp38	A	T	8: 81,731,995 (GRCm39)	I305N	probably damaging	Het
Usp4	T	A	9: 108,248,080 (GRCm39)		probably null	Het
Usp5	A	T	6: 124,794,387 (GRCm39)	D764E	probably damaging	Het
Vangl2	A	T	1: 171,832,224 (GRCm39)	V544E	probably damaging	Het
Vldlr	G	A	19: 27,212,219 (GRCm39)	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,284,757 (GRCm39)	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdfy3	T	A	5: 102,054,051 (GRCm39)	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,230,402 (GRCm39)	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,568,007 (GRCm39)	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,580,692 (GRCm39)	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,822,647 (GRCm39)	Y258*	probably null	Het
Zfp951	T	A	5: 104,962,438 (GRCm39)	Q376L	possibly damaging	Het

Other mutations in Cthrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGTTTCTGACCACTGTCAACCTGC -3'
(R):5'- ACTCAAGCTTCTTAACGTGCTGCC -3'

Sequencing Primer
(F):5'- GGCCTATAACAGTATGCAAGCTC -3'
(R):5'- TAACGTGCTGCCCTACAC -3'

Posted On

2013-07-11