Mutagenetix > Incidental Mutation

Incidental Mutation 'R8559:Ccn2'

660927

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

068522-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8559 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

24471340-24474581 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CCCGCCAACCGC to CCCGC at 24471966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020171 (fasta)

Gene Model

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

AlphaFold

P29268

Predicted Effect

probably null
Transcript: ENSMUST00000020171

SMART Domains

Protein: ENSMUSP00000020171
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
CT	260	329	1.17e-25	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000129142

SMART Domains

Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997

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

Predicted Effect

probably null
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	A	10: 89,568,048 (GRCm39)	H19L	probably benign	Het
Adamts9	A	T	6: 92,784,117 (GRCm39)	V1579E	probably benign	Het
Arhgap40	C	T	2: 158,383,721 (GRCm39)	R435C	probably damaging	Het
Atp1a4	T	C	1: 172,078,897 (GRCm39)	D207G	probably damaging	Het
Btaf1	A	G	19: 36,964,273 (GRCm39)	N948S	probably benign	Het
Calcr	G	A	6: 3,692,603 (GRCm39)	P417L	probably damaging	Het
Cep250	T	A	2: 155,834,656 (GRCm39)	S2194T	probably damaging	Het
Clcn6	C	T	4: 148,111,032 (GRCm39)	V102M	possibly damaging	Het
Cog2	T	C	8: 125,269,647 (GRCm39)	S396P	probably benign	Het
Col28a1	C	A	6: 8,166,681 (GRCm39)	R265L	unknown	Het
Cpa6	C	T	1: 10,478,574 (GRCm39)	W254*	probably null	Het
Crtc2	T	A	3: 90,170,904 (GRCm39)	M659K	possibly damaging	Het
Dnah7c	A	G	1: 46,764,299 (GRCm39)	Y3020C	probably damaging	Het
Dok2	C	A	14: 71,014,968 (GRCm39)	H232N	probably benign	Het
Edem3	A	G	1: 151,694,169 (GRCm39)	E834G	probably benign	Het
Elac2	T	A	11: 64,872,502 (GRCm39)		probably null	Het
Epx	T	A	11: 87,755,618 (GRCm39)	I689F	probably damaging	Het
Exd2	G	A	12: 80,522,631 (GRCm39)	R30H	probably benign	Het
Gja1	T	C	10: 56,264,304 (GRCm39)	L221P	probably damaging	Het
Gli3	T	A	13: 15,834,717 (GRCm39)	L400Q	probably damaging	Het
Gm8439	T	A	4: 120,458,008 (GRCm39)	W50R	unknown	Het
Greb1	T	A	12: 16,746,436 (GRCm39)	D1278V	probably damaging	Het
Grin3a	C	A	4: 49,770,555 (GRCm39)	C739F	probably damaging	Het
Gucy2g	C	A	19: 55,198,786 (GRCm39)	V786F	probably benign	Het
Hmcn1	G	A	1: 150,551,789 (GRCm39)	T2605I	probably benign	Het
Hmgxb3	T	A	18: 61,288,491 (GRCm39)	T459S	probably benign	Het
Ift172	T	C	5: 31,413,921 (GRCm39)	H1469R	probably damaging	Het
Il1rap	A	G	16: 26,530,884 (GRCm39)	I407V	probably benign	Het
Inppl1	G	T	7: 101,478,834 (GRCm39)	S555*	probably null	Het
Krt8	T	C	15: 101,909,979 (GRCm39)	M142V	probably benign	Het
Lrrk1	T	A	7: 65,932,075 (GRCm39)	N1049I	possibly damaging	Het
Megf10	G	A	18: 57,373,699 (GRCm39)	A166T	probably damaging	Het
Mei4	A	T	9: 81,907,684 (GRCm39)	H338L	probably benign	Het
Mfsd2b	T	C	12: 4,921,471 (GRCm39)	T33A	possibly damaging	Het
Mgat3	A	T	15: 80,096,370 (GRCm39)	Y399F	probably damaging	Het
Mtmr4	C	T	11: 87,494,950 (GRCm39)	T414I	probably damaging	Het
Muc4	T	C	16: 32,754,715 (GRCm38)	S1530P	unknown	Het
Myl4	T	C	11: 104,474,930 (GRCm39)	V93A	possibly damaging	Het
N4bp2	T	A	5: 65,982,628 (GRCm39)	S1627R	possibly damaging	Het
Narf	T	G	11: 121,141,258 (GRCm39)		probably null	Het
Nbas	A	C	12: 13,402,809 (GRCm39)	I788L	probably benign	Het
Nlrc3	A	G	16: 3,783,146 (GRCm39)	S104P	probably benign	Het
Or14j6	A	T	17: 38,214,719 (GRCm39)	Y94F	probably benign	Het
Or4a68	T	A	2: 89,270,528 (GRCm39)	I32F	probably benign	Het
Or4c11	A	T	2: 88,695,527 (GRCm39)	I193L	probably benign	Het
Or8k3	A	G	2: 86,058,988 (GRCm39)	V109A	probably benign	Het
Ppp4r4	A	T	12: 103,559,420 (GRCm39)	T534S	probably benign	Het
Prg3	A	G	2: 84,819,680 (GRCm39)	E58G	probably benign	Het
Prima1	A	G	12: 103,163,512 (GRCm39)	V153A	possibly damaging	Het
Rp1	A	T	1: 4,419,784 (GRCm39)	Y443N	probably damaging	Het
Rpgrip1	T	C	14: 52,386,714 (GRCm39)	S882P	unknown	Het
Scn1a	T	A	2: 66,118,077 (GRCm39)	D412V	probably damaging	Het
Srcin1	T	C	11: 97,427,975 (GRCm39)	T180A	probably damaging	Het
Suox	A	G	10: 128,506,600 (GRCm39)	L476P	probably damaging	Het
Tas2r104	T	C	6: 131,662,388 (GRCm39)	Y107C	probably damaging	Het
Tubg2	T	C	11: 101,047,610 (GRCm39)	V65A	probably damaging	Het
Ubn1	T	C	16: 4,882,634 (GRCm39)	V365A	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,646 (GRCm39)	M807V	probably benign	Het
Vmn2r75	T	A	7: 85,815,480 (GRCm39)	Y128F	possibly damaging	Het
Vps13b	A	T	15: 35,876,788 (GRCm39)	I2814F	probably damaging	Het
Vps54	T	C	11: 21,214,815 (GRCm39)	Y108H	probably damaging	Het
Wdr6	T	A	9: 108,452,593 (GRCm39)	E430V	probably benign	Het
Zfp619	T	A	7: 39,186,559 (GRCm39)	V863E	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
R4913:Ccn2	UTSW	10	24,473,225 (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
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'- TGCGATCACAGACTGACCTC -3'
(R):5'- GCTATATCACTGTACATGTCAAGGTG -3'

Sequencing Primer
(F):5'- TATGGGCCAGGACTGCAG -3'
(R):5'- AGCTAGGGTCAGGACTGC -3'

Posted On

2021-03-08