Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Ccn2'

379714

Institutional Source

Beutler Lab

Gene Symbol

Ccn2

Ensembl Gene

ENSMUSG00000019997

Gene Name

cellular communication network factor 2

Synonyms

Ccn2, Fisp12, hypertrophic chondrocyte-specific gene product 24, Ctgf, Hcs24

MMRRC Submission

042515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24471340-24474581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24473225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 255 (C255R)

Ref Sequence

ENSEMBL: ENSMUSP00000020171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]

AlphaFold

P29268

Predicted Effect

probably damaging
Transcript: ENSMUST00000020171
AA Change: C255R

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

SMART Domains

Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: C255R

Domain	Start	End	E-Value	Type
IB	26	96	1.45e-25	SMART
VWC	102	165	8.52e-22	SMART
TSP1	199	242	7.27e-7	SMART
CT	260	329	1.17e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125158

Predicted Effect

probably benign
Transcript: ENSMUST00000129142

SMART Domains

Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997

Domain	Start	End	E-Value	Type
IB	3	73	1.45e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141076

Predicted Effect

probably benign
Transcript: ENSMUST00000176228

SMART Domains

Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997

Domain	Start	End	E-Value	Type
IB	26	96	1.45e-25	SMART
VWC	102	165	8.52e-22	SMART
TSP1	199	242	7.27e-7	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice die at birth from respiratory failure due to axial skeletal defects and pulmonary hypoplasia associated with reduced cell proliferation, enhanced apoptosis and altered pneumocyte maturation. Osteogenesis is impaired due to impaired chondrogenesis and growth plate angiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Arnt	A	G	3: 95,397,965 (GRCm39)	R588G	probably damaging	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Ido1	T	C	8: 25,074,533 (GRCm39)	D279G	probably benign	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Malt1	G	T	18: 65,609,351 (GRCm39)	C774F	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Mybpc3	A	G	2: 90,956,609 (GRCm39)	E637G	possibly damaging	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sec24b	A	T	3: 129,796,028 (GRCm39)	S367T	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Uhrf1	T	C	17: 56,622,478 (GRCm39)	V431A	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	probably benign	Het

Other mutations in Ccn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Ccn2	APN	10	24,472,307 (GRCm39)	missense	probably damaging	1.00
IGL02994:Ccn2	APN	10	24,472,763 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Ccn2	UTSW	10	24,471,988 (GRCm39)	missense	probably damaging	0.97
R0443:Ccn2	UTSW	10	24,471,701 (GRCm39)	splice site	probably benign
R0496:Ccn2	UTSW	10	24,473,413 (GRCm39)	missense	possibly damaging	0.51
R0538:Ccn2	UTSW	10	24,472,364 (GRCm39)	missense	probably damaging	1.00
R1599:Ccn2	UTSW	10	24,473,297 (GRCm39)	missense	probably benign	0.08
R1721:Ccn2	UTSW	10	24,472,695 (GRCm39)	missense	probably damaging	1.00
R2095:Ccn2	UTSW	10	24,472,377 (GRCm39)	missense	probably benign	0.41
R2230:Ccn2	UTSW	10	24,472,371 (GRCm39)	missense	possibly damaging	0.61
R2322:Ccn2	UTSW	10	24,472,732 (GRCm39)	missense	probably damaging	1.00
R5697:Ccn2	UTSW	10	24,473,354 (GRCm39)	missense	probably benign
R6705:Ccn2	UTSW	10	24,471,853 (GRCm39)	missense	probably damaging	0.99
R7067:Ccn2	UTSW	10	24,472,873 (GRCm39)	missense	probably benign	0.14
R7427:Ccn2	UTSW	10	24,473,397 (GRCm39)	missense	probably damaging	0.99
R8559:Ccn2	UTSW	10	24,471,966 (GRCm39)	frame shift	probably null
R9036:Ccn2	UTSW	10	24,472,647 (GRCm39)	missense	probably benign	0.01
R9223:Ccn2	UTSW	10	24,471,856 (GRCm39)	missense	probably benign	0.37
R9375:Ccn2	UTSW	10	24,473,501 (GRCm39)	missense	possibly damaging	0.88
R9383:Ccn2	UTSW	10	24,471,883 (GRCm39)	missense	possibly damaging	0.94
R9727:Ccn2	UTSW	10	24,471,820 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCCAAATGAGGCCATGGC -3'
(R):5'- GACAGTTGTAATGGCAGGCAC -3'

Sequencing Primer
(F):5'- GAGGCCATGGCTATTTTTGGAAAAC -3'
(R):5'- GCACAGGTCTTGATGAACATC -3'

Posted On

2016-04-15