Mutagenetix > Incidental Mutation

Incidental Mutation 'R8710:Cthrc1'

669527

Institutional Source

Beutler Lab

Gene Symbol

Cthrc1

Ensembl Gene

ENSMUSG00000054196

Gene Name

collagen triple helix repeat containing 1

Synonyms

1110014B07Rik

MMRRC Submission

068564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8710 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38940327-38950516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38947821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 180 (L180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070018 (fasta)

Gene Model

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

AlphaFold

Q9D1D6

Predicted Effect

probably damaging
Transcript: ENSMUST00000067072
AA Change: L180Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: L180Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132192

Predicted Effect

probably damaging
Transcript: ENSMUST00000226433
AA Change: L106Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,005,495 (GRCm39)	N1126S	probably damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Agpat5	T	A	8: 18,928,105 (GRCm39)	D223E	possibly damaging	Het
Anks3	A	C	16: 4,775,976 (GRCm39)	Y75*	probably null	Het
Ano5	T	G	7: 51,243,419 (GRCm39)	D847E	probably damaging	Het
Asb6	G	T	2: 30,717,072 (GRCm39)	T51K	probably benign	Het
Bahcc1	A	G	11: 120,174,953 (GRCm39)	E1702G	probably damaging	Het
Bend7	A	G	2: 4,767,925 (GRCm39)	M294V	probably benign	Het
Cadm1	T	A	9: 47,759,466 (GRCm39)	D392E	probably damaging	Het
Camkmt	T	C	17: 85,421,277 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,785,501 (GRCm39)	T149A	probably benign	Het
Cd69	A	T	6: 129,246,573 (GRCm39)	W153R	possibly damaging	Het
Cdc25c	T	A	18: 34,882,666 (GRCm39)		probably benign	Het
Clnk	A	C	5: 38,931,940 (GRCm39)	C40W	possibly damaging	Het
Cyld	A	G	8: 89,436,523 (GRCm39)	N271S	probably damaging	Het
Dnah14	T	C	1: 181,517,876 (GRCm39)	I2070T	probably benign	Het
Dnah17	A	C	11: 117,932,973 (GRCm39)	L3595R	probably damaging	Het
Edrf1	A	G	7: 133,245,495 (GRCm39)	Y211C	probably damaging	Het
Efcab6	A	G	15: 83,902,849 (GRCm39)	I167T	probably benign	Het
Elavl3	A	T	9: 21,937,849 (GRCm39)	Y148N	probably damaging	Het
Ermardl2	A	T	17: 15,209,194 (GRCm39)	N342I	probably damaging	Het
Fam83c	A	G	2: 155,671,642 (GRCm39)	S598P	probably benign	Het
Gm38119	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	3: 92,645,197 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,941,872 (GRCm39)	L272P	probably damaging	Het
Iars2	A	C	1: 185,027,783 (GRCm39)	V715G	probably benign	Het
Iqgap2	T	G	13: 95,796,756 (GRCm39)	N1133H	probably benign	Het
Kifc5b	T	A	17: 27,139,880 (GRCm39)	M43K	probably damaging	Het
Krtap7-1	T	A	16: 89,305,008 (GRCm39)	Y48F	possibly damaging	Het
Lag3	G	A	6: 124,885,408 (GRCm39)	T324I	probably damaging	Het
Mapkapk2	C	A	1: 130,986,448 (GRCm39)	A97S	possibly damaging	Het
Mettl4	A	G	17: 95,041,072 (GRCm39)	S361P	probably damaging	Het
Myh4	A	G	11: 67,143,158 (GRCm39)	T1029A	probably benign	Het
Nsl1	C	A	1: 190,795,420 (GRCm39)	A62D	probably benign	Het
Oas1e	T	A	5: 120,930,027 (GRCm39)	K164*	probably null	Het
Obsl1	A	G	1: 75,469,326 (GRCm39)	F1205S	probably benign	Het
Or14j2	G	T	17: 37,885,540 (GRCm39)	A258E	probably benign	Het
Or1e1b-ps1	G	A	11: 73,845,694 (GRCm39)	M59I	possibly damaging	Het
Or8c15	C	T	9: 38,121,066 (GRCm39)	A237V	possibly damaging	Het
Or8g18	T	A	9: 39,149,306 (GRCm39)	Y138F	probably benign	Het
Pald1	A	G	10: 61,183,232 (GRCm39)	F334S	probably benign	Het
Pikfyve	A	G	1: 65,255,155 (GRCm39)	E325G	possibly damaging	Het
Plekha8	A	G	6: 54,599,245 (GRCm39)	T215A	probably benign	Het
Ptprq	T	C	10: 107,411,919 (GRCm39)	R1816G	possibly damaging	Het
Ralgps1	G	A	2: 33,035,433 (GRCm39)	L472F	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Rfx6	A	G	10: 51,601,501 (GRCm39)	T607A	probably damaging	Het
Rnf214	T	A	9: 45,778,748 (GRCm39)		probably benign	Het
Rtca	A	T	3: 116,291,303 (GRCm39)	Y226N	probably benign	Het
Sash1	T	A	10: 8,656,285 (GRCm39)	N236Y	possibly damaging	Het
Skint11	A	G	4: 114,051,951 (GRCm39)	I100V	probably benign	Het
Skint5	A	T	4: 113,483,787 (GRCm39)	S948R	unknown	Het
Slc25a13	A	T	6: 6,114,238 (GRCm39)	Y279N	probably benign	Het
Slc5a2	T	C	7: 127,864,966 (GRCm39)	L33P	probably damaging	Het
Slco1a5	A	T	6: 142,198,828 (GRCm39)	V279E	probably benign	Het
Ssh3	G	T	19: 4,313,833 (GRCm39)	H475Q	probably benign	Het
Tapt1	A	G	5: 44,351,743 (GRCm39)	S107P	probably benign	Het
Tjp2	T	C	19: 24,072,796 (GRCm39)	E1166G	probably damaging	Het
Tll1	A	G	8: 64,577,940 (GRCm39)	L89P	possibly damaging	Het
Tmc4	G	T	7: 3,678,463 (GRCm39)	T123N	probably benign	Het
Tmem139	A	G	6: 42,241,021 (GRCm39)	D202G	probably damaging	Het
Trim35	T	C	14: 66,545,367 (GRCm39)	S313P	probably damaging	Het
Ttc23l	A	G	15: 10,540,021 (GRCm39)	I154T	probably damaging	Het
Ttc9c	T	C	19: 8,795,860 (GRCm39)	T60A	probably benign	Het
Wdfy3	G	T	5: 102,030,349 (GRCm39)	N2386K	probably damaging	Het
Wdpcp	C	A	11: 21,610,924 (GRCm39)	Q49K	probably benign	Het
Xrn1	A	T	9: 95,884,285 (GRCm39)	Y867F		Het
Zfp423	C	T	8: 88,507,549 (GRCm39)	E932K	possibly damaging	Het
Zfp592	T	C	7: 80,673,321 (GRCm39)	F95S	probably damaging	Het
Zfp644	T	G	5: 106,782,997 (GRCm39)	N1095H	probably damaging	Het
Zfp983	A	T	17: 21,880,234 (GRCm39)	N54I	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
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
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'- TGGCAGGAGTGTACATTCAC -3'
(R):5'- TCAGAGATGACACCCTAGCATC -3'

Sequencing Primer
(F):5'- GTGTACATTCACGAAGATGCGCTC -3'
(R):5'- CCAGCTAGAGGACTATGGACC -3'

Posted On

2021-04-30