Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Crtac1'

383979

Institutional Source

Beutler Lab

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: 0.399) question?

Stock #

R4965 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

42283037-42431783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42318740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 195 (Y195H)

Ref Sequence

ENSEMBL: ENSMUSP00000044858 (fasta)

Gene Model

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

AlphaFold

Q8R555

Predicted Effect

probably damaging
Transcript: ENSMUST00000048630
AA Change: Y195H

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

SMART Domains

Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: Y195H

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: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,672 (GRCm38)	T1541A	probably benign	Het
2810474O19Rik	G	T	6: 149,328,398 (GRCm38)	G981*	probably null	Het
4931423N10Rik	C	A	2: 23,245,115 (GRCm38)	T312K	probably benign	Het
9530002B09Rik	T	C	4: 122,700,492 (GRCm38)	M59T	probably benign	Het
Adam18	C	T	8: 24,641,811 (GRCm38)	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,278,502 (GRCm38)	E700G	possibly damaging	Het
Adprh	G	T	16: 38,445,780 (GRCm38)	Y333*	probably null	Het
Agfg2	C	A	5: 137,667,177 (GRCm38)		probably null	Het
Akip1	A	T	7: 109,711,754 (GRCm38)	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,580,305 (GRCm38)	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,365,789 (GRCm38)	A455E	probably damaging	Het
Amph	G	A	13: 19,137,699 (GRCm38)	S520N	probably benign	Het
Ankrd52	A	G	10: 128,390,507 (GRCm38)	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,467,676 (GRCm38)	Q133P	probably damaging	Het
Babam1	C	T	8: 71,404,388 (GRCm38)	A331V	possibly damaging	Het
Btc	T	C	5: 91,362,301 (GRCm38)		probably null	Het
Cacna2d3	A	G	14: 28,982,332 (GRCm38)	F831L	probably benign	Het
Cadm3	G	A	1: 173,337,097 (GRCm38)	P372L	probably damaging	Het
Capn5	A	T	7: 98,126,417 (GRCm38)	M439K	probably damaging	Het
Carf	T	C	1: 60,150,637 (GRCm38)	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250 (GRCm38)	R81C	probably benign	Het
Ces2e	G	T	8: 104,933,698 (GRCm38)	R555M	probably benign	Het
Cfap54	T	A	10: 93,066,799 (GRCm38)	I164F	probably benign	Het
Cltc	C	T	11: 86,707,501 (GRCm38)	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,095,787 (GRCm38)	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,774,474 (GRCm38)	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,177,425 (GRCm38)	I59F	possibly damaging	Het
Cop1	T	C	1: 159,239,597 (GRCm38)	M80T	probably damaging	Het
Cplx2	A	G	13: 54,379,647 (GRCm38)	S115G	possibly damaging	Het
Csn1s2a	A	C	5: 87,781,838 (GRCm38)	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,813,961 (GRCm38)	D41E	possibly damaging	Het
Cul9	C	T	17: 46,538,525 (GRCm38)	D565N	probably damaging	Het
Cux1	A	T	5: 136,311,556 (GRCm38)	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,011,762 (GRCm38)	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,809,285 (GRCm38)	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,624,421 (GRCm38)	V135M	probably damaging	Het
Dtl	T	C	1: 191,546,565 (GRCm38)	E395G	possibly damaging	Het
Dyrk1a	G	T	16: 94,691,995 (GRCm38)	G658*	probably null	Het
Erlin2	T	C	8: 27,029,595 (GRCm38)	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,531,523 (GRCm38)		probably null	Het
Fras1	T	C	5: 96,726,580 (GRCm38)	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,153,600 (GRCm38)	T240A	probably damaging	Het
H2-D1	A	G	17: 35,263,905 (GRCm38)	Y137C	probably damaging	Het
Helz2	A	G	2: 181,240,916 (GRCm38)	V28A	possibly damaging	Het
Hydin	A	G	8: 110,398,095 (GRCm38)	I579V	probably benign	Het
Il6	A	T	5: 30,013,493 (GRCm38)	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,307,840 (GRCm38)	D368G	probably damaging	Het
Junb	T	A	8: 84,978,159 (GRCm38)	I91F	probably damaging	Het
Kat2a	A	T	11: 100,712,204 (GRCm38)		probably benign	Het
Kat2a	C	A	11: 100,712,203 (GRCm38)		probably benign	Het
Kcnh5	T	A	12: 74,965,151 (GRCm38)	T665S	probably benign	Het
Kdm1b	A	T	13: 47,074,367 (GRCm38)	D608V	probably damaging	Het
Krcc1	A	G	6: 71,284,637 (GRCm38)	K218E	probably damaging	Het
Krt8	C	T	15: 101,996,951 (GRCm38)	V488M	probably benign	Het
Lzts1	C	T	8: 69,138,762 (GRCm38)	A245T	probably benign	Het
Mcm6	T	A	1: 128,359,486 (GRCm38)	Q27L	probably damaging	Het
Mfsd4b3	G	T	10: 39,947,690 (GRCm38)	Y191*	probably null	Het
Mgme1	T	C	2: 144,279,620 (GRCm38)	L332P	probably benign	Het
Mgme1	C	T	2: 144,276,404 (GRCm38)	Q199*	probably null	Het
Morc3	G	T	16: 93,860,587 (GRCm38)	E25*	probably null	Het
Mroh7	G	A	4: 106,690,987 (GRCm38)	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,406,587 (GRCm38)	R174H	probably benign	Het
Mybpc3	G	A	2: 91,119,247 (GRCm38)	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,504,938 (GRCm38)	N733K	probably damaging	Het
N4bp1	T	C	8: 86,851,686 (GRCm38)	I684V	possibly damaging	Het
Nav2	A	T	7: 49,552,877 (GRCm38)	R1470*	probably null	Het
Ndufa9	A	T	6: 126,822,063 (GRCm38)	S364T	probably benign	Het
Nipal4	C	A	11: 46,162,010 (GRCm38)	A43S	possibly damaging	Het
Nlrp1a	T	A	11: 71,092,315 (GRCm38)	Y1275F	possibly damaging	Het
Nova1	A	T	12: 46,720,835 (GRCm38)	L8*	probably null	Het
Odam	G	T	5: 87,890,108 (GRCm38)	G181*	probably null	Het
Olfr1111	T	A	2: 87,150,659 (GRCm38)	M1L	possibly damaging	Het
Olfr1297	T	C	2: 111,621,534 (GRCm38)	D180G	probably damaging	Het
Olfr15	T	C	16: 3,839,570 (GRCm38)	L199P	probably damaging	Het
Olfr186	A	T	16: 59,027,333 (GRCm38)	D191E	probably damaging	Het
Olfr283	T	C	15: 98,379,149 (GRCm38)		probably benign	Het
Olfr33	A	T	7: 102,713,495 (GRCm38)	I306N	probably damaging	Het
Olfr723	C	T	14: 49,928,897 (GRCm38)	V216I	probably benign	Het
Optn	T	A	2: 5,021,379 (GRCm38)	Q576L	probably benign	Het
Patl2	G	T	2: 122,128,848 (GRCm38)	S45*	probably null	Het
Pde2a	G	A	7: 101,502,933 (GRCm38)	G349E	probably benign	Het
Pdlim2	T	A	14: 70,168,015 (GRCm38)		probably benign	Het
Per1	T	C	11: 69,104,401 (GRCm38)	V653A	probably benign	Het
Phlda2	A	G	7: 143,502,268 (GRCm38)	S75P	probably damaging	Het
Poldip3	A	T	15: 83,137,505 (GRCm38)	M167K	possibly damaging	Het
Prpf38a	T	C	4: 108,579,081 (GRCm38)	I12V	probably benign	Het
Prrc1	G	A	18: 57,374,550 (GRCm38)	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,424,622 (GRCm38)	M1K	probably null	Het
Rdh5	A	G	10: 128,913,784 (GRCm38)	Y296H	probably damaging	Het
Rnf2	T	A	1: 151,473,217 (GRCm38)	K51*	probably null	Het
Rpusd3	C	A	6: 113,416,848 (GRCm38)	R215L	probably benign	Het
Rsph4a	A	T	10: 33,909,240 (GRCm38)	E382D	probably damaging	Het
S1pr2	G	A	9: 20,968,449 (GRCm38)	Q28*	probably null	Het
Sesn1	A	T	10: 41,895,009 (GRCm38)	I179F	probably damaging	Het
Setd3	T	A	12: 108,113,371 (GRCm38)	E291V	probably benign	Het
Shc1	G	T	3: 89,426,996 (GRCm38)	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,891,526 (GRCm38)	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,700,558 (GRCm38)	K26E	probably benign	Het
Slc9a3	A	G	13: 74,164,293 (GRCm38)	N670D	possibly damaging	Het
Spata19	A	T	9: 27,400,465 (GRCm38)	I127L	probably benign	Het
Speg	G	T	1: 75,427,703 (GRCm38)	V2751L	probably damaging	Het
Sptbn2	A	G	19: 4,729,309 (GRCm38)	D298G	probably benign	Het
Srm	T	C	4: 148,594,183 (GRCm38)	V289A	possibly damaging	Het
Stip1	C	T	19: 7,035,570 (GRCm38)	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,628 (GRCm38)	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,865,725 (GRCm38)	K284*	probably null	Het
Tfcp2	T	C	15: 100,525,650 (GRCm38)	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,373,073 (GRCm38)	V206A	probably damaging	Het
Tgtp2	A	G	11: 49,059,410 (GRCm38)	W112R	probably damaging	Het
Tmem71	T	G	15: 66,538,861 (GRCm38)	M221L	probably benign	Het
Tpcn1	T	C	5: 120,547,487 (GRCm38)	N436S	possibly damaging	Het
Usp4	C	T	9: 108,362,620 (GRCm38)	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,670,551 (GRCm38)	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,533,919 (GRCm38)	D669V	probably damaging	Het
Zfp108	A	T	7: 24,260,148 (GRCm38)	I55L	probably benign	Het
Zfp512b	A	T	2: 181,586,338 (GRCm38)	S8R	probably damaging	Het
Zfp827	T	C	8: 79,061,281 (GRCm38)	S359P	probably benign	Het

Other mutations in Crtac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Crtac1	APN	19	42,323,794 (GRCm38)	missense	probably damaging	1.00
IGL01296:Crtac1	APN	19	42,284,213 (GRCm38)	missense	probably damaging	1.00
IGL01991:Crtac1	APN	19	42,414,121 (GRCm38)	missense	possibly damaging	0.96
IGL02811:Crtac1	APN	19	42,333,911 (GRCm38)	missense	probably damaging	1.00
R1957:Crtac1	UTSW	19	42,287,944 (GRCm38)	missense	possibly damaging	0.79
R2046:Crtac1	UTSW	19	42,334,053 (GRCm38)	missense	probably damaging	1.00
R2125:Crtac1	UTSW	19	42,323,732 (GRCm38)	missense	probably damaging	1.00
R2280:Crtac1	UTSW	19	42,283,567 (GRCm38)	missense	unknown
R2281:Crtac1	UTSW	19	42,283,567 (GRCm38)	missense	unknown
R3508:Crtac1	UTSW	19	42,304,741 (GRCm38)	missense	probably benign	0.09
R3923:Crtac1	UTSW	19	42,333,947 (GRCm38)	missense	probably damaging	1.00
R4072:Crtac1	UTSW	19	42,304,707 (GRCm38)	missense	probably damaging	1.00
R4798:Crtac1	UTSW	19	42,323,801 (GRCm38)	missense	possibly damaging	0.93
R4951:Crtac1	UTSW	19	42,414,131 (GRCm38)	missense	probably benign
R5190:Crtac1	UTSW	19	42,333,908 (GRCm38)	missense	possibly damaging	0.50
R5579:Crtac1	UTSW	19	42,304,806 (GRCm38)	missense	probably damaging	1.00
R5595:Crtac1	UTSW	19	42,413,951 (GRCm38)	missense	probably benign	0.08
R5739:Crtac1	UTSW	19	42,302,173 (GRCm38)	missense	probably damaging	1.00
R5872:Crtac1	UTSW	19	42,309,190 (GRCm38)	splice site	probably null
R5936:Crtac1	UTSW	19	42,323,837 (GRCm38)	missense	probably damaging	1.00
R6149:Crtac1	UTSW	19	42,283,609 (GRCm38)	missense	unknown
R6193:Crtac1	UTSW	19	42,323,797 (GRCm38)	missense	possibly damaging	0.47
R6858:Crtac1	UTSW	19	42,318,735 (GRCm38)	missense	possibly damaging	0.93
R7246:Crtac1	UTSW	19	42,287,926 (GRCm38)	missense	probably benign
R7726:Crtac1	UTSW	19	42,302,251 (GRCm38)	nonsense	probably null
R7991:Crtac1	UTSW	19	42,333,960 (GRCm38)	missense	probably benign	0.24
R8046:Crtac1	UTSW	19	42,309,053 (GRCm38)	splice site	probably benign
R8071:Crtac1	UTSW	19	42,297,800 (GRCm38)	missense	probably damaging	1.00
R8350:Crtac1	UTSW	19	42,309,186 (GRCm38)	missense	probably damaging	1.00
R8450:Crtac1	UTSW	19	42,309,186 (GRCm38)	missense	probably damaging	1.00
R9756:Crtac1	UTSW	19	42,298,341 (GRCm38)	missense	probably damaging	1.00
R9766:Crtac1	UTSW	19	42,414,118 (GRCm38)	missense	possibly damaging	0.96
X0018:Crtac1	UTSW	19	42,309,114 (GRCm38)	missense	probably damaging	1.00
Z1176:Crtac1	UTSW	19	42,287,926 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGTTGCTGATGACTTAGACAC -3'
(R):5'- TCATTTGCACGCAGCTTTTG -3'

Sequencing Primer
(F):5'- GTTGCTGATGACTTAGACACAGCTC -3'
(R):5'- CACGCAGCTTTTGTGATGAGC -3'

Posted On

2016-04-27