Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Cthrc1'

453866

Institutional Source

Beutler Lab

Gene Symbol

Cthrc1

Ensembl Gene

ENSMUSG00000054196

Gene Name

collagen triple helix repeat containing 1

Synonyms

1110014B07Rik

MMRRC Submission

044072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38940327-38950516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38950080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 146 (C146R)

Ref Sequence

ENSEMBL: ENSMUSP00000153886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022908] [ENSMUST00000067072] [ENSMUST00000226433]

AlphaFold

Q9D1D6

Predicted Effect

probably benign
Transcript: ENSMUST00000022908

SMART Domains

Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:Mito_carr	20	113	4.5e-24	PFAM
Pfam:Mito_carr	116	214	1e-24	PFAM
Pfam:Mito_carr	220	311	3.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067072
AA Change: C220R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: C220R

Domain	Start	End	E-Value	Type
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: C146R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.9535

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,524,661 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,518,024 (GRCm39)	T1421A	probably benign	Het
Actr8	T	A	14: 29,708,242 (GRCm39)	Y150*	probably null	Het
Adamts1	A	G	16: 85,595,432 (GRCm39)	C249R	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Atf6	A	T	1: 170,669,344 (GRCm39)	L119H	probably damaging	Het
Atf6	G	A	1: 170,669,345 (GRCm39)	L119F	possibly damaging	Het
B3gat2	G	A	1: 23,854,400 (GRCm39)	W33*	probably null	Het
Bach2	A	G	4: 32,580,268 (GRCm39)	D831G	probably damaging	Het
Ccnk	A	T	12: 108,153,466 (GRCm39)	I76F	probably damaging	Het
Cdyl	A	C	13: 36,042,066 (GRCm39)	K368T	possibly damaging	Het
Chi3l1	A	G	1: 134,112,909 (GRCm39)	T114A	probably benign	Het
Cnppd1	A	G	1: 75,113,131 (GRCm39)	V379A	probably benign	Het
Col11a2	C	A	17: 34,283,159 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,854,399 (GRCm39)	S18G	probably benign	Het
Crybg3	A	C	16: 59,385,632 (GRCm39)	D197E	probably damaging	Het
Cryga	T	C	1: 65,142,527 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,525,270 (GRCm39)	D191V	probably damaging	Het
Dchs1	C	T	7: 105,421,242 (GRCm39)	A393T	probably damaging	Het
Dhx30	G	A	9: 109,913,645 (GRCm39)	T1126I	probably damaging	Het
Dock2	C	T	11: 34,206,562 (GRCm39)	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,228,081 (GRCm39)	E425G	probably damaging	Het
Dynlt2b	A	G	16: 32,247,614 (GRCm39)	Y143C	probably damaging	Het
Exosc8	C	T	3: 54,642,463 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,504,166 (GRCm39)	A4553V	probably benign	Het
Flnb	T	A	14: 7,931,135 (GRCm38)	L2119Q	probably damaging	Het
Fnbp4	T	A	2: 90,587,826 (GRCm39)	D401E	probably benign	Het
Glyctk	T	C	9: 106,032,906 (GRCm39)	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,066,225 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,387,174 (GRCm39)	L1432P	probably damaging	Het
Gtpbp4	A	T	13: 9,023,196 (GRCm39)	S623T	probably benign	Het
Insc	A	C	7: 114,390,383 (GRCm39)	S85R	probably damaging	Het
Lgr4	G	A	2: 109,821,496 (GRCm39)	R126H	probably damaging	Het
M1ap	T	A	6: 82,980,795 (GRCm39)	L227Q	probably damaging	Het
Marchf7	T	C	2: 60,067,187 (GRCm39)	I569T	probably damaging	Het
Mbd1	C	A	18: 74,409,768 (GRCm39)	C339*	probably null	Het
Moxd2	T	A	6: 40,857,341 (GRCm39)	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 46,839,099 (GRCm39)	H2R	probably benign	Het
Mtus1	T	G	8: 41,529,303 (GRCm39)	L742F	probably damaging	Het
Nek11	A	G	9: 105,270,160 (GRCm39)	Y21H	probably benign	Het
Notch4	G	T	17: 34,801,392 (GRCm39)	C1080F	probably damaging	Het
Nsd3	C	A	8: 26,156,107 (GRCm39)	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,930,015 (GRCm39)	S168T	probably benign	Het
Ogfr	T	C	2: 180,234,285 (GRCm39)	S119P	probably damaging	Het
Or2y15	A	G	11: 49,350,563 (GRCm39)	D19G	probably damaging	Het
Or8g20	T	A	9: 39,395,767 (GRCm39)	M261L	probably benign	Het
Pde4dip	A	G	3: 97,631,504 (GRCm39)	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,486,604 (GRCm39)		probably benign	Het
Ptprf	T	C	4: 118,068,486 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,875,859 (GRCm39)	V359A	probably damaging	Het
Ric1	A	G	19: 29,577,245 (GRCm39)	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,366,868 (GRCm39)	I290T	possibly damaging	Het
Senp7	C	A	16: 55,975,722 (GRCm39)	A476E	possibly damaging	Het
Serpinh1	G	A	7: 98,995,571 (GRCm39)	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,427,969 (GRCm39)	A8D	probably benign	Het
Smg5	T	A	3: 88,250,214 (GRCm39)	C109S	probably damaging	Het
Speer4b	T	C	5: 27,705,226 (GRCm39)	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,957,664 (GRCm39)	I89V	probably benign	Het
Tet1	A	G	10: 62,648,399 (GRCm39)		probably null	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,505,545 (GRCm39)	G101D	probably damaging	Het
Trim13	T	G	14: 61,842,188 (GRCm39)	S68R	probably damaging	Het
Vwf	A	G	6: 125,620,053 (GRCm39)	N1577S		Het
Vwf	G	T	6: 125,656,228 (GRCm39)		probably benign	Het
Xpr1	T	C	1: 155,207,868 (GRCm39)		probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	Het
Zftraf1	T	C	15: 76,540,615 (GRCm39)	Y101C	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably 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
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
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'- AGCAATCATGGAAATGCCTCC -3'
(R):5'- CATTCAGCTGAGCACTTCATTTAAG -3'

Sequencing Primer
(F):5'- GGAAATGCCTCCAAAAATGTCTGTG -3'
(R):5'- ACTGAAATCGTCAGAGGC -3'

Posted On

2017-02-10