Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Crtac1'

73139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crtac1

Ensembl Gene

ENSMUSG00000042401

Gene Name

cartilage acidic protein 1

Synonyms

Lotus, Crtac1B, 2810454P21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

42283037-42431783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42284213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 578 (C578S)

Ref Sequence

ENSEMBL: ENSMUSP00000044858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048630]

AlphaFold

Q8R555

Predicted Effect

probably damaging
Transcript: ENSMUST00000048630
AA Change: C578S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: C578S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:VCBS	63	133	6.6e-12	PFAM
Pfam:VCBS	254	311	2e-12	PFAM
Pfam:VCBS	300	364	4.9e-13	PFAM
low complexity region	403	417	N/A	INTRINSIC
Pfam:UnbV_ASPIC	459	528	8.9e-18	PFAM
Pfam:EGF_CA	560	606	2.1e-13	PFAM
low complexity region	630	646	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175493

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in Crtac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Crtac1	APN	19	42323794	missense	probably damaging	1.00
IGL01991:Crtac1	APN	19	42414121	missense	possibly damaging	0.96
IGL02811:Crtac1	APN	19	42333911	missense	probably damaging	1.00
R1957:Crtac1	UTSW	19	42287944	missense	possibly damaging	0.79
R2046:Crtac1	UTSW	19	42334053	missense	probably damaging	1.00
R2125:Crtac1	UTSW	19	42323732	missense	probably damaging	1.00
R2280:Crtac1	UTSW	19	42283567	missense	unknown
R2281:Crtac1	UTSW	19	42283567	missense	unknown
R3508:Crtac1	UTSW	19	42304741	missense	probably benign	0.09
R3923:Crtac1	UTSW	19	42333947	missense	probably damaging	1.00
R4072:Crtac1	UTSW	19	42304707	missense	probably damaging	1.00
R4798:Crtac1	UTSW	19	42323801	missense	possibly damaging	0.93
R4951:Crtac1	UTSW	19	42414131	missense	probably benign
R4965:Crtac1	UTSW	19	42318740	missense	probably damaging	1.00
R5190:Crtac1	UTSW	19	42333908	missense	possibly damaging	0.50
R5579:Crtac1	UTSW	19	42304806	missense	probably damaging	1.00
R5595:Crtac1	UTSW	19	42413951	missense	probably benign	0.08
R5739:Crtac1	UTSW	19	42302173	missense	probably damaging	1.00
R5872:Crtac1	UTSW	19	42309190	splice site	probably null
R5936:Crtac1	UTSW	19	42323837	missense	probably damaging	1.00
R6149:Crtac1	UTSW	19	42283609	missense	unknown
R6193:Crtac1	UTSW	19	42323797	missense	possibly damaging	0.47
R6858:Crtac1	UTSW	19	42318735	missense	possibly damaging	0.93
R7246:Crtac1	UTSW	19	42287926	missense	probably benign
R7726:Crtac1	UTSW	19	42302251	nonsense	probably null
R7991:Crtac1	UTSW	19	42333960	missense	probably benign	0.24
R8046:Crtac1	UTSW	19	42309053	splice site	probably benign
R8071:Crtac1	UTSW	19	42297800	missense	probably damaging	1.00
R8350:Crtac1	UTSW	19	42309186	missense	probably damaging	1.00
R8450:Crtac1	UTSW	19	42309186	missense	probably damaging	1.00
R9756:Crtac1	UTSW	19	42298341	missense	probably damaging	1.00
R9766:Crtac1	UTSW	19	42414118	missense	possibly damaging	0.96
X0018:Crtac1	UTSW	19	42309114	missense	probably damaging	1.00
Z1176:Crtac1	UTSW	19	42287926	missense	probably benign

Posted On

2013-10-07