Mutagenetix > Incidental Mutation

Incidental Mutation 'R9756:Crtac1'

732776

Institutional Source

Beutler Lab

Gene Symbol

Crtac1

Ensembl Gene

ENSMUSG00000042401

Gene Name

cartilage acidic protein 1

Synonyms

Lotus, Crtac1B, 2810454P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R9756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42271474-42421405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42286780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 421 (L421P)

Ref Sequence

ENSEMBL: ENSMUSP00000044858 (fasta)

Gene Model

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

AlphaFold

Q8R555

Predicted Effect

probably damaging
Transcript: ENSMUST00000048630
AA Change: L421P

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

SMART Domains

Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: L421P

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,906 (GRCm39)	Y94F	possibly damaging	Het
Abcb5	A	G	12: 118,881,873 (GRCm39)	S619P	probably damaging	Het
Adgrf5	A	G	17: 43,761,137 (GRCm39)	N944S	probably benign	Het
Ano1	T	A	7: 144,162,666 (GRCm39)	M689L	probably benign	Het
Antxr1	T	A	6: 87,217,936 (GRCm39)	H314L	probably benign	Het
Atp13a5	CA	C	16: 29,051,583 (GRCm39)		probably null	Het
Blmh	T	A	11: 76,859,509 (GRCm39)	M370K	probably damaging	Het
Cdh8	G	A	8: 99,759,976 (GRCm39)	T591M	probably damaging	Het
Cep290	G	A	10: 100,352,034 (GRCm39)	E747K	probably damaging	Het
Chd6	T	C	2: 160,802,259 (GRCm39)	S2192G	probably benign	Het
Cldn8	T	G	16: 88,359,917 (GRCm39)	T3P	probably benign	Het
Ddx59	G	T	1: 136,345,069 (GRCm39)	A247S	probably damaging	Het
Defa38	C	T	8: 21,585,943 (GRCm39)	V42I	possibly damaging	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dnhd1	A	T	7: 105,353,135 (GRCm39)	T2763S	probably benign	Het
Evpl	T	C	11: 116,112,077 (GRCm39)	D1871G	probably damaging	Het
Fat1	T	A	8: 45,496,974 (GRCm39)	I4153N	probably damaging	Het
Fbxl17	A	G	17: 63,367,310 (GRCm39)	Y688H	probably damaging	Het
Fntb	A	G	12: 76,966,938 (GRCm39)	E424G	probably benign	Het
Gabra4	A	G	5: 71,729,067 (GRCm39)	M571T	probably damaging	Het
Hoxb5	T	C	11: 96,194,449 (GRCm39)	Y4H	probably damaging	Het
Htr1a	T	C	13: 105,581,450 (GRCm39)	V230A	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-4	T	C	12: 114,217,448 (GRCm39)	T48A	probably damaging	Het
Il15ra	A	G	2: 11,728,259 (GRCm39)	M53V	probably benign	Het
Ipo9	A	C	1: 135,314,057 (GRCm39)	D945E	probably benign	Het
Klk1b22	A	T	7: 43,765,254 (GRCm39)		probably null	Het
Klkb1	T	C	8: 45,735,811 (GRCm39)	N184S	possibly damaging	Het
Lbhd2	G	A	12: 111,376,774 (GRCm39)	A74T	probably damaging	Het
Lpcat3	A	G	6: 124,679,967 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Mbd5	C	A	2: 49,169,283 (GRCm39)	P1485T	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mical2	C	T	7: 111,902,928 (GRCm39)	T133I	probably damaging	Het
Mylk	T	C	16: 34,734,387 (GRCm39)	S663P	probably damaging	Het
Or2ag13	A	T	7: 106,313,002 (GRCm39)	N295K	probably benign	Het
Or2j3	A	G	17: 38,615,971 (GRCm39)	V127A	probably benign	Het
Or4x11	A	T	2: 89,867,674 (GRCm39)	N137I	probably benign	Het
Or5ak22	T	A	2: 85,230,682 (GRCm39)	H65L	probably damaging	Het
Or5b119	G	A	19: 13,456,986 (GRCm39)	T192I	probably benign	Het
Or8b12	G	A	9: 37,658,314 (GRCm39)	D295N	possibly damaging	Het
Patj	G	T	4: 98,565,535 (GRCm39)	A1656S	probably benign	Het
Peg10	GC	GCGCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigz	G	T	16: 31,763,787 (GRCm39)	G282C	probably damaging	Het
Pomk	G	A	8: 26,472,918 (GRCm39)	T345M	possibly damaging	Het
Psap	T	C	10: 60,130,784 (GRCm39)	S205P	possibly damaging	Het
Ptpn6	A	T	6: 124,705,592 (GRCm39)	F186L	probably damaging	Het
Rnase2b	T	C	14: 51,400,302 (GRCm39)	S128P	probably damaging	Het
Rnf112	C	T	11: 61,340,667 (GRCm39)	V536I	probably damaging	Het
Rnf31	A	T	14: 55,836,582 (GRCm39)	E805D	probably damaging	Het
Rps6kc1	A	T	1: 190,604,021 (GRCm39)	D200E	probably benign	Het
Rufy2	T	C	10: 62,818,519 (GRCm39)	L25P	probably damaging	Het
Sec14l2	T	A	11: 4,053,978 (GRCm39)	K230*	probably null	Het
Senp1	A	G	15: 97,957,806 (GRCm39)	I364T	possibly damaging	Het
Sod1	T	A	16: 90,017,753 (GRCm39)	M3K	probably benign	Het
Stab2	T	C	10: 86,803,553 (GRCm39)	D332G	possibly damaging	Het
Tcf4	G	T	18: 69,790,830 (GRCm39)	E408*	probably null	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Tmem39a	T	C	16: 38,396,126 (GRCm39)	Y120H	probably benign	Het
Trav16	C	A	14: 53,980,886 (GRCm39)	T25K	possibly damaging	Het
Unc13c	T	A	9: 73,839,526 (GRCm39)	N442Y	probably benign	Het
Vmn2r71	A	T	7: 85,268,573 (GRCm39)	K259*	probably null	Het
Yipf1	T	C	4: 107,176,247 (GRCm39)	V47A	probably benign	Het
Zeb2	T	C	2: 44,887,414 (GRCm39)	T548A	possibly damaging	Het
Zmym4	A	G	4: 126,771,502 (GRCm39)	F1291L	probably damaging	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
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
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'- ACTAGGTTCTCTATCATGTTGGCC -3'
(R):5'- AAGTCTGTCAGTGGATTCCTGG -3'

Sequencing Primer
(F):5'- CTATCATGTTGGCCAGTGAGCC -3'
(R):5'- CAGTGGATTCCTGGATGATGGACAG -3'

Posted On

2022-11-14