Mutagenetix > Incidental Mutation

Incidental Mutation 'R9467:Cthrc1'

715235

Institutional Source

Beutler Lab

Gene Symbol

Cthrc1

Ensembl Gene

ENSMUSG00000054196

Gene Name

collagen triple helix repeat containing 1

Synonyms

1110014B07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9467 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38940327-38950516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38947689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 136 (N136S)

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: N136S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196
AA Change: N136S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132192

Predicted Effect

probably benign
Transcript: ENSMUST00000226433
AA Change: N62S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	C	2: 68,423,934 (GRCm39)	M46L		Het
Aars2	A	G	17: 45,827,410 (GRCm39)	E484G	probably benign	Het
Abcd2	C	T	15: 91,075,825 (GRCm39)		probably benign	Het
Acap2	A	G	16: 30,929,901 (GRCm39)	S361P	possibly damaging	Het
Arap2	T	C	5: 62,887,900 (GRCm39)	E482G	probably benign	Het
Axin2	G	T	11: 108,833,782 (GRCm39)	L576F	possibly damaging	Het
B4galt2	T	A	4: 117,738,123 (GRCm39)	Y161F	probably damaging	Het
Cdh3	A	T	8: 107,266,425 (GRCm39)		probably null	Het
Cfap61	A	T	2: 145,971,149 (GRCm39)	I920F	probably benign	Het
Chaf1b	T	C	16: 93,681,394 (GRCm39)	I4T	probably benign	Het
Clptm1	T	C	7: 19,371,449 (GRCm39)	N328S	probably benign	Het
Dlec1	G	T	9: 118,971,652 (GRCm39)	R1279L	probably damaging	Het
Dnah5	A	T	15: 28,366,293 (GRCm39)	T2669S	possibly damaging	Het
Efcab14	C	A	4: 115,610,208 (GRCm39)	L190I	probably damaging	Het
Eml6	A	T	11: 29,769,076 (GRCm39)	C690S	probably damaging	Het
Fignl1	T	C	11: 11,751,483 (GRCm39)	E524G	probably damaging	Het
Fmo4	A	G	1: 162,631,238 (GRCm39)	V243A	probably benign	Het
Ghr	A	G	15: 3,357,506 (GRCm39)	V254A	probably benign	Het
Igkv8-28	A	G	6: 70,120,691 (GRCm39)	V84A	probably damaging	Het
Itgb7	T	C	15: 102,131,989 (GRCm39)	D198G	probably damaging	Het
Klra2	A	G	6: 131,197,070 (GRCm39)		probably null	Het
Klrc2	A	T	6: 129,633,363 (GRCm39)	Y230N	probably damaging	Het
Lacc1	A	G	14: 77,267,024 (GRCm39)	V413A	probably damaging	Het
Muc16	T	C	9: 18,508,331 (GRCm39)	N6355S	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ncor1	CTG	CTGGTG	11: 62,324,448 (GRCm39)		probably benign	Het
Ndn	A	G	7: 61,998,903 (GRCm39)	K250E	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5e	A	G	9: 88,249,416 (GRCm39)	E450G	probably benign	Het
Or4d6	A	T	19: 12,086,313 (GRCm39)	M199K	possibly damaging	Het
Or5p75-ps1	T	A	7: 108,107,790 (GRCm39)	*176K	probably null	Het
Or8k16	G	T	2: 85,520,626 (GRCm39)	M284I		Het
Palld	A	G	8: 61,968,264 (GRCm39)	S1343P	unknown	Het
Pcdha8	T	A	18: 37,126,843 (GRCm39)	S442T	possibly damaging	Het
Pole2	T	C	12: 69,255,719 (GRCm39)	I349V	probably benign	Het
Ptprb	C	T	10: 116,158,390 (GRCm39)	T487M	probably benign	Het
Ptprc	C	T	1: 137,993,960 (GRCm39)	D1020N	probably damaging	Het
Relch	C	T	1: 105,669,039 (GRCm39)	T1023I	probably damaging	Het
Rnf26rt	C	T	6: 76,473,615 (GRCm39)	E334K	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,571,490 (GRCm39)	N4916S	possibly damaging	Het
Selp	C	T	1: 163,957,674 (GRCm39)	P268S	probably damaging	Het
Sema7a	T	A	9: 57,864,608 (GRCm39)	C333S	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	CAGCCACGGGGACCAGCT	CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT	7: 126,066,754 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Shisa5	G	A	9: 108,867,712 (GRCm39)		probably benign	Het
Snx27	A	G	3: 94,489,723 (GRCm39)	V45A	possibly damaging	Het
Srcap	T	C	7: 127,139,531 (GRCm39)	V1284A	probably damaging	Het
Ssrp1	A	G	2: 84,872,610 (GRCm39)	D416G	probably damaging	Het
Tcstv1b	C	T	13: 120,634,061 (GRCm39)		probably benign	Het
Tectb	A	G	19: 55,181,093 (GRCm39)	Y144C		Het
Thap12	G	T	7: 98,359,348 (GRCm39)	V76F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Tsg101	A	G	7: 46,558,772 (GRCm39)	Y80H	probably benign	Het
Unc5cl	T	A	17: 48,770,656 (GRCm39)	M368K	probably damaging	Het
Utp20	G	T	10: 88,640,390 (GRCm39)	Q717K	possibly damaging	Het
Vmn1r159	T	A	7: 22,542,141 (GRCm39)	D297V	possibly damaging	Het
Vmn2r98	G	T	17: 19,287,517 (GRCm39)	S450I	probably benign	Het
Zbtb8b	T	C	4: 129,326,319 (GRCm39)	E282G	probably benign	Het
Zfp831	T	C	2: 174,486,789 (GRCm39)	V488A	probably benign	Het
Zng1	T	A	19: 24,930,684 (GRCm39)	M122L	possibly damaging	Het
Zzef1	G	A	11: 72,807,251 (GRCm39)	V2710I	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
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
R9625:Cthrc1	UTSW	15	38,947,874 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAGCACAGGTTAGATGGG -3'
(R):5'- AGGCAGATTTGAGGCTCAC -3'

Sequencing Primer
(F):5'- AGGAGCTAAATGGTGTTTCCCTAGAC -3'
(R):5'- TTATACATACCAGAGGAAGTACGATG -3'

Posted On

2022-06-15