Mutagenetix > Incidental Mutation

Incidental Mutation 'R8046:Crtac1'

643745

Institutional Source

Beutler Lab

Gene Symbol

Crtac1

Ensembl Gene

ENSMUSG00000042401

Gene Name

cartilage acidic protein 1

Synonyms

Lotus, Crtac1B, 2810454P21Rik

MMRRC Submission

067483-MU

Accession Numbers

Essential gene?

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

Stock #

R8046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42271474-42421405 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 42297492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044858 (fasta)

Gene Model

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

AlphaFold

Q8R555

Predicted Effect

probably benign
Transcript: ENSMUST00000048630

SMART Domains

Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	T	5: 77,044,325 (GRCm39)	D188E	probably benign	Het
Ahcyl2	T	C	6: 29,878,619 (GRCm39)	L273P	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Angpt1	T	C	15: 42,359,752 (GRCm39)	T227A	probably benign	Het
Ankle1	C	T	8: 71,860,665 (GRCm39)	T374M	probably damaging	Het
Arhgap18	T	C	10: 26,763,853 (GRCm39)	V481A	probably damaging	Het
Astn2	A	T	4: 66,184,587 (GRCm39)	L170*	probably null	Het
Bms1	T	C	6: 118,385,105 (GRCm39)	T368A	probably benign	Het
Boll	A	G	1: 55,385,562 (GRCm39)	I121T	probably damaging	Het
Brca1	A	C	11: 101,416,296 (GRCm39)	C613G	probably benign	Het
Cdk14	T	A	5: 5,299,159 (GRCm39)	I65F	possibly damaging	Het
Chn1	T	C	2: 73,448,363 (GRCm39)	D335G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col12a1	A	G	9: 79,613,508 (GRCm39)		probably null	Het
Cplane2	A	C	4: 140,947,348 (GRCm39)	Q243P	probably damaging	Het
Dhx40	A	T	11: 86,675,766 (GRCm39)	C507*	probably null	Het
Dok2	A	G	14: 71,015,482 (GRCm39)	D403G	probably damaging	Het
Eif1ad14	T	C	12: 87,886,335 (GRCm39)	D98G	probably benign	Het
Eif2b5	A	G	16: 20,325,154 (GRCm39)	T556A	possibly damaging	Het
Eml6	A	T	11: 29,708,981 (GRCm39)	V1480E	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Glra1	A	G	11: 55,427,225 (GRCm39)	S120P	probably damaging	Het
Habp4	T	C	13: 64,322,656 (GRCm39)	S242P	probably benign	Het
Igkv12-46	A	G	6: 69,741,570 (GRCm39)	I95T	probably damaging	Het
Itch	G	T	2: 155,052,422 (GRCm39)	G674V	probably damaging	Het
Itpr2	A	G	6: 146,327,957 (GRCm39)	L92P	probably damaging	Het
Kcnk2	A	G	1: 188,990,933 (GRCm39)		probably null	Het
Krt75	T	C	15: 101,481,199 (GRCm39)	T192A	probably benign	Het
Lrp1b	T	A	2: 41,159,199 (GRCm39)	K1694N		Het
Lrrc14	A	G	15: 76,598,731 (GRCm39)	K456E	possibly damaging	Het
Map1lc3a	G	T	2: 155,119,129 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,358,741 (GRCm39)	M832L	probably benign	Het
Nectin1	A	G	9: 43,703,798 (GRCm39)	T263A	probably benign	Het
Nnt	A	T	13: 119,511,286 (GRCm39)	M330K	probably damaging	Het
Nrap	T	C	19: 56,308,683 (GRCm39)	N1711D	possibly damaging	Het
Olfm1	A	G	2: 28,119,135 (GRCm39)	N285D	possibly damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or51ab3	T	A	7: 103,201,584 (GRCm39)	S197R	possibly damaging	Het
Or8b8	A	T	9: 37,808,685 (GRCm39)		probably benign	Het
Pag1	A	G	3: 9,764,482 (GRCm39)	Y224H	probably damaging	Het
Pde8a	T	C	7: 80,958,587 (GRCm39)	C322R	possibly damaging	Het
Pde8a	A	T	7: 80,967,118 (GRCm39)	T420S	probably benign	Het
Per2	A	C	1: 91,363,425 (GRCm39)	L365R	possibly damaging	Het
Pml	A	G	9: 58,154,256 (GRCm39)		probably null	Het
Ppp1r1a	T	A	15: 103,446,305 (GRCm39)	M1L	possibly damaging	Het
Ppp3r2	G	T	4: 49,681,913 (GRCm39)	C12*	probably null	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Scyl1	C	T	19: 5,810,620 (GRCm39)	R531Q	possibly damaging	Het
Skp2	C	A	15: 9,139,687 (GRCm39)	V38F	probably damaging	Het
Slc27a3	A	G	3: 90,296,974 (GRCm39)	C42R	probably damaging	Het
Tekt5	A	G	16: 10,213,277 (GRCm39)	F3L	probably benign	Het
Tmem200c	A	G	17: 69,147,513 (GRCm39)	K32R	probably benign	Het
Tmprss11f	T	A	5: 86,676,132 (GRCm39)	R350W	probably damaging	Het
Tph2	A	T	10: 115,015,499 (GRCm39)	I121N	possibly damaging	Het
Trim37	A	G	11: 87,037,794 (GRCm39)	D176G	possibly damaging	Het
Trpc4	A	T	3: 54,102,335 (GRCm39)	I78F	probably damaging	Het
Ttn	T	C	2: 76,609,829 (GRCm39)	K17526E	probably damaging	Het
Tuba8	A	C	6: 121,199,832 (GRCm39)	Y172S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Urb2	A	T	8: 124,754,771 (GRCm39)	R159S	possibly damaging	Het
Usp25	T	A	16: 76,906,063 (GRCm39)	C840S	probably damaging	Het
Vmn1r36	T	A	6: 66,692,964 (GRCm39)	K304*	probably null	Het
Vmn1r37	C	A	6: 66,708,656 (GRCm39)	T94N	probably damaging	Het
Vmn2r7	T	C	3: 64,614,479 (GRCm39)	N445S	probably damaging	Het
Wnk4	G	A	11: 101,164,918 (GRCm39)	G749D	probably benign	Het
Wscd2	G	A	5: 113,689,176 (GRCm39)	V61I	probably benign	Het
Zfp85	T	A	13: 67,897,098 (GRCm39)	R325*	probably null	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
R6193:Crtac1	UTSW	19	42,312,236 (GRCm39)	missense	possibly damaging	0.47
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
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'- TTGTGCTAGCAAACAAAAGCAG -3'
(R):5'- AATTTATCTGGTGCCTCGGCTG -3'

Sequencing Primer
(F):5'- CAGACTCAGAGGTTCACAGGC -3'
(R):5'- ACCAGGCACTCACTGTGG -3'

Posted On

2020-08-10