Mutagenetix > Incidental Mutation

Incidental Mutation 'R6193:Crtac1'

502761

Institutional Source

Beutler Lab

Gene Symbol

Crtac1

Ensembl Gene

ENSMUSG00000042401

Gene Name

cartilage acidic protein 1

Synonyms

Lotus, Crtac1B, 2810454P21Rik

MMRRC Submission

044333-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.334) question?

Stock #

R6193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42271474-42421405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42312236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 159 (E159V)

Ref Sequence

ENSEMBL: ENSMUSP00000044858 (fasta)

Gene Model

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

AlphaFold

Q8R555

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048630
AA Change: E159V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: E159V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,792,629 (GRCm39)	I106T	probably benign	Het
Aagab	A	C	9: 63,524,795 (GRCm39)	N35H	possibly damaging	Het
Abcf1	A	C	17: 36,274,464 (GRCm39)	N161K	possibly damaging	Het
Adam11	T	A	11: 102,662,087 (GRCm39)	H140Q	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,247,213 (GRCm39)	D99V	possibly damaging	Het
Arhgef28	A	G	13: 98,121,888 (GRCm39)	S559P	probably damaging	Het
Capn11	A	G	17: 45,964,430 (GRCm39)		probably null	Het
Ccdc157	T	C	11: 4,101,912 (GRCm39)	H3R	probably damaging	Het
Cd101	A	G	3: 100,927,778 (GRCm39)	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,464,993 (GRCm39)	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,570,850 (GRCm39)	I381F	probably benign	Het
Cntn3	T	A	6: 102,185,092 (GRCm39)	I675F	probably benign	Het
Cplx2	C	T	13: 54,527,406 (GRCm39)	P97S	probably damaging	Het
Cyp27a1	A	G	1: 74,776,231 (GRCm39)	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,014 (GRCm39)		noncoding transcript	Het
Cyp2d9	A	G	15: 82,336,728 (GRCm39)	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,083,440 (GRCm39)	R503S	probably damaging	Het
Dclk1	A	T	3: 55,424,292 (GRCm39)		probably null	Het
Dgkq	A	T	5: 108,803,366 (GRCm39)	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679 (GRCm39)	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,231,081 (GRCm39)		probably benign	Het
Ephx2	A	T	14: 66,326,961 (GRCm39)	D411E	probably benign	Het
Ephx2	T	G	14: 66,349,669 (GRCm39)	Q34P	probably benign	Het
Fer1l5	A	T	1: 36,448,517 (GRCm39)	N1092Y	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fzd4	A	T	7: 89,057,197 (GRCm39)	K415*	probably null	Het
Gfi1	A	T	5: 107,869,397 (GRCm39)	Y278N	probably benign	Het
Gm11565	T	C	11: 99,806,070 (GRCm39)	M154T	probably benign	Het
Gm7247	A	G	14: 51,759,299 (GRCm39)	I93V	possibly damaging	Het
Golm1	T	G	13: 59,792,972 (GRCm39)	I178L	probably benign	Het
Grip1	A	T	10: 119,874,219 (GRCm39)	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,456,254 (GRCm39)		probably null	Het
Herc2	C	A	7: 55,806,649 (GRCm39)	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,298,786 (GRCm39)	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,186,445 (GRCm39)	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,407,031 (GRCm39)	Q222K	probably benign	Het
Klra6	A	T	6: 129,995,881 (GRCm39)	M159K	probably benign	Het
Lzts3	T	C	2: 130,479,306 (GRCm39)	T36A	probably damaging	Het
Mgam	T	A	6: 40,724,854 (GRCm39)	Y443*	probably null	Het
Mmp23	T	A	4: 155,735,990 (GRCm39)	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,519 (GRCm39)	V132E	probably damaging	Het
Npas2	C	A	1: 39,331,843 (GRCm39)	T86N	probably damaging	Het
Or1e32	T	A	11: 73,705,650 (GRCm39)	H86L	probably benign	Het
Or5al7	C	T	2: 85,992,628 (GRCm39)	V222M	possibly damaging	Het
Papola	A	T	12: 105,786,605 (GRCm39)	E103V	probably benign	Het
Parp9	A	T	16: 35,767,921 (GRCm39)	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,877,666 (GRCm39)	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,455,080 (GRCm39)	Y487D	probably damaging	Het
Pira12	C	G	7: 3,901,049 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,778,181 (GRCm39)	D5G	probably damaging	Het
Plxnb1	T	C	9: 108,933,971 (GRCm39)	L733P	probably benign	Het
Ppfia4	T	C	1: 134,251,899 (GRCm39)	D425G	probably benign	Het
Prss2	T	G	6: 41,498,754 (GRCm39)	I6S	unknown	Het
Psme3ip1	A	G	8: 95,302,348 (GRCm39)	S228P	probably damaging	Het
Qrfprl	T	A	6: 65,433,142 (GRCm39)	F321I	probably damaging	Het
Qrich2	T	A	11: 116,344,979 (GRCm39)	I1693L	probably benign	Het
Rad52	T	C	6: 119,897,143 (GRCm39)	V324A	probably benign	Het
Rapgef2	A	T	3: 78,976,751 (GRCm39)	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Scaf1	A	G	7: 44,656,204 (GRCm39)		probably benign	Het
Sfxn5	T	C	6: 85,246,918 (GRCm39)	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,073,701 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,164,183 (GRCm39)	D62G	possibly damaging	Het
Syt1	A	G	10: 108,336,597 (GRCm39)	V357A	probably benign	Het
Tenm2	T	A	11: 35,937,621 (GRCm39)	D1685V	probably damaging	Het
Tmc3	A	G	7: 83,252,543 (GRCm39)	T315A	probably benign	Het
Tmem266	T	C	9: 55,344,493 (GRCm39)	L375P	probably benign	Het
Tsks	T	G	7: 44,603,263 (GRCm39)	L355R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,203,041 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,532,087 (GRCm39)	V102D	probably damaging	Het
Usp44	G	A	10: 93,683,010 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,575,983 (GRCm39)	F527S	probably benign	Het
Zfp101	A	C	17: 33,600,720 (GRCm39)	Y345*	probably null	Het
Zfp160	C	A	17: 21,247,124 (GRCm39)	A558E	probably benign	Het
Zfp236	T	C	18: 82,622,372 (GRCm39)	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,181,586 (GRCm39)	D481E	probably benign	Het
Zswim4	A	G	8: 84,952,774 (GRCm39)	V396A	probably benign	Het

Other mutations in Crtac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Crtac1	APN	19	42,312,233 (GRCm39)	missense	probably damaging	1.00
IGL01296:Crtac1	APN	19	42,272,652 (GRCm39)	missense	probably damaging	1.00
IGL01991:Crtac1	APN	19	42,402,560 (GRCm39)	missense	possibly damaging	0.96
IGL02811:Crtac1	APN	19	42,322,350 (GRCm39)	missense	probably damaging	1.00
R1957:Crtac1	UTSW	19	42,276,383 (GRCm39)	missense	possibly damaging	0.79
R2046:Crtac1	UTSW	19	42,322,492 (GRCm39)	missense	probably damaging	1.00
R2125:Crtac1	UTSW	19	42,312,171 (GRCm39)	missense	probably damaging	1.00
R2280:Crtac1	UTSW	19	42,272,006 (GRCm39)	missense	unknown
R2281:Crtac1	UTSW	19	42,272,006 (GRCm39)	missense	unknown
R3508:Crtac1	UTSW	19	42,293,180 (GRCm39)	missense	probably benign	0.09
R3923:Crtac1	UTSW	19	42,322,386 (GRCm39)	missense	probably damaging	1.00
R4072:Crtac1	UTSW	19	42,293,146 (GRCm39)	missense	probably damaging	1.00
R4798:Crtac1	UTSW	19	42,312,240 (GRCm39)	missense	possibly damaging	0.93
R4951:Crtac1	UTSW	19	42,402,570 (GRCm39)	missense	probably benign
R4965:Crtac1	UTSW	19	42,307,179 (GRCm39)	missense	probably damaging	1.00
R5190:Crtac1	UTSW	19	42,322,347 (GRCm39)	missense	possibly damaging	0.50
R5579:Crtac1	UTSW	19	42,293,245 (GRCm39)	missense	probably damaging	1.00
R5595:Crtac1	UTSW	19	42,402,390 (GRCm39)	missense	probably benign	0.08
R5739:Crtac1	UTSW	19	42,290,612 (GRCm39)	missense	probably damaging	1.00
R5872:Crtac1	UTSW	19	42,297,629 (GRCm39)	splice site	probably null
R5936:Crtac1	UTSW	19	42,312,276 (GRCm39)	missense	probably damaging	1.00
R6149:Crtac1	UTSW	19	42,272,048 (GRCm39)	missense	unknown
R6858:Crtac1	UTSW	19	42,307,174 (GRCm39)	missense	possibly damaging	0.93
R7246:Crtac1	UTSW	19	42,276,365 (GRCm39)	missense	probably benign
R7726:Crtac1	UTSW	19	42,290,690 (GRCm39)	nonsense	probably null
R7991:Crtac1	UTSW	19	42,322,399 (GRCm39)	missense	probably benign	0.24
R8046:Crtac1	UTSW	19	42,297,492 (GRCm39)	splice site	probably benign
R8071:Crtac1	UTSW	19	42,286,239 (GRCm39)	missense	probably damaging	1.00
R8350:Crtac1	UTSW	19	42,297,625 (GRCm39)	missense	probably damaging	1.00
R8450:Crtac1	UTSW	19	42,297,625 (GRCm39)	missense	probably damaging	1.00
R9756:Crtac1	UTSW	19	42,286,780 (GRCm39)	missense	probably damaging	1.00
R9766:Crtac1	UTSW	19	42,402,557 (GRCm39)	missense	possibly damaging	0.96
X0018:Crtac1	UTSW	19	42,297,553 (GRCm39)	missense	probably damaging	1.00
Z1176:Crtac1	UTSW	19	42,276,365 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCCCAGTTAAGCCACTTAGTATC -3'
(R):5'- AAGGAGCTTTGCCTGCAGAG -3'

Sequencing Primer
(F):5'- AGTTAAGCCACTTAGTATCTTGCTTC -3'
(R):5'- TTTGCCTGCAGAGAGCCTC -3'

Posted On

2018-02-27