Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02027:Ccn3'

184222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccn3

Ensembl Gene

ENSMUSG00000037362

Gene Name

cellular communication network factor 3

Synonyms

C130088N23Rik, CCN3, Nov

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL02027

Quality Score

Status

Chromosome

Chromosomal Location

54609306-54617158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54611330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 155 (V155A)

Ref Sequence

ENSEMBL: ENSMUSP00000054389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050027]

AlphaFold

Q64299

Predicted Effect

probably damaging
Transcript: ENSMUST00000050027
AA Change: V155A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: V155A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IB	27	98	8.2e-34	SMART
VWC	104	167	6.08e-18	SMART
low complexity region	172	181	N/A	INTRINSIC
TSP1	204	247	5.51e-7	SMART
CT	266	335	1.18e-21	SMART

Coding Region Coverage

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 small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	A	G	1: 134,358,923 (GRCm39)	T312A	probably benign	Het
Begain	T	G	12: 109,000,235 (GRCm39)	K384Q	possibly damaging	Het
C2cd6	T	C	1: 59,099,763 (GRCm39)	I393V	probably benign	Het
Catsperz	A	G	19: 6,902,664 (GRCm39)	V5A	probably benign	Het
Cbx1	T	A	11: 96,692,315 (GRCm39)	F67L	probably damaging	Het
Ccn2	A	G	10: 24,472,307 (GRCm39)	S117G	probably damaging	Het
Cerkl	T	C	2: 79,171,630 (GRCm39)		probably benign	Het
Cubn	G	T	2: 13,292,405 (GRCm39)	D3259E	probably damaging	Het
Cyp2u1	A	G	3: 131,091,600 (GRCm39)	Y307H	probably damaging	Het
Dcaf6	A	C	1: 165,251,910 (GRCm39)	D71E	probably damaging	Het
Dclk3	A	T	9: 111,296,911 (GRCm39)	K152*	probably null	Het
Fcgbp	G	A	7: 27,774,629 (GRCm39)	D68N	probably damaging	Het
Gm6576	A	G	15: 27,025,952 (GRCm39)		noncoding transcript	Het
Has2	T	C	15: 56,531,567 (GRCm39)	T383A	probably damaging	Het
Htr1f	T	A	16: 64,746,684 (GRCm39)	K203*	probably null	Het
Il36g	A	T	2: 24,082,797 (GRCm39)	I191L	probably benign	Het
Iqgap3	T	C	3: 87,994,649 (GRCm39)	I116T	possibly damaging	Het
Itga1	C	T	13: 115,126,591 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,209,089 (GRCm39)	D891G	possibly damaging	Het
Krt74	T	C	15: 101,665,229 (GRCm39)		noncoding transcript	Het
Lama3	A	G	18: 12,649,570 (GRCm39)	K1776E	probably damaging	Het
Lats1	T	C	10: 7,588,712 (GRCm39)	S1110P	probably benign	Het
Lipo3	T	A	19: 33,557,919 (GRCm39)	K158*	probably null	Het
Lrrc9	T	A	12: 72,517,108 (GRCm39)		probably benign	Het
Met	A	G	6: 17,563,726 (GRCm39)		probably benign	Het
Mmp13	A	G	9: 7,272,955 (GRCm39)	Y105C	probably damaging	Het
Mtus1	T	C	8: 41,446,638 (GRCm39)	E1151G	probably damaging	Het
Nptx1	T	C	11: 119,435,422 (GRCm39)	D298G	possibly damaging	Het
Odad4	C	T	11: 100,460,728 (GRCm39)	T495M	probably damaging	Het
Pdlim1	T	C	19: 40,231,910 (GRCm39)	N156S	probably benign	Het
Pdzk1	A	G	3: 96,761,989 (GRCm39)		probably benign	Het
Pex5	A	G	6: 124,375,847 (GRCm39)	S448P	probably benign	Het
Polr3e	G	T	7: 120,530,186 (GRCm39)	R124L	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,816 (GRCm39)	R392C	probably damaging	Het
Prpf4b	T	C	13: 35,073,554 (GRCm39)	I543T	probably benign	Het
Prr27	A	G	5: 87,991,302 (GRCm39)	S305G	possibly damaging	Het
Repin1	A	G	6: 48,573,407 (GRCm39)	H56R	probably damaging	Het
Ryr2	A	T	13: 11,611,998 (GRCm39)	L408H	probably damaging	Het
Sbf2	T	A	7: 110,060,348 (GRCm39)	Q205H	probably damaging	Het
Sgo2b	G	A	8: 64,379,863 (GRCm39)	P990S	probably benign	Het
Slc33a1	G	T	3: 63,855,562 (GRCm39)	P361Q	probably damaging	Het
Tmem98	T	C	11: 80,706,483 (GRCm39)		probably benign	Het
Vmn1r16	T	C	6: 57,300,044 (GRCm39)	T193A	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,640 (GRCm39)	I105K	probably damaging	Het
Zfp473	A	T	7: 44,387,462 (GRCm39)		probably benign	Het

Other mutations in Ccn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Ccn3	APN	15	54,612,656 (GRCm39)	missense	probably damaging	1.00
IGL01480:Ccn3	APN	15	54,615,687 (GRCm39)	missense	probably damaging	1.00
IGL01727:Ccn3	APN	15	54,609,634 (GRCm39)	missense	probably benign	0.17
IGL02690:Ccn3	APN	15	54,611,198 (GRCm39)	missense	probably damaging	1.00
IGL03089:Ccn3	APN	15	54,612,680 (GRCm39)	missense	possibly damaging	0.72
IGL03229:Ccn3	APN	15	54,612,704 (GRCm39)	missense	probably benign	0.19
R0556:Ccn3	UTSW	15	54,612,563 (GRCm39)	missense	probably damaging	1.00
R1162:Ccn3	UTSW	15	54,611,178 (GRCm39)	nonsense	probably null
R1321:Ccn3	UTSW	15	54,612,642 (GRCm39)	missense	probably damaging	1.00
R1572:Ccn3	UTSW	15	54,612,648 (GRCm39)	missense	possibly damaging	0.89
R1994:Ccn3	UTSW	15	54,612,750 (GRCm39)	missense	probably benign
R2151:Ccn3	UTSW	15	54,615,854 (GRCm39)	missense	probably benign	0.10
R4785:Ccn3	UTSW	15	54,615,603 (GRCm39)	critical splice acceptor site	probably null
R5165:Ccn3	UTSW	15	54,612,585 (GRCm39)	missense	probably damaging	1.00
R5577:Ccn3	UTSW	15	54,615,897 (GRCm39)	missense	possibly damaging	0.54
R6131:Ccn3	UTSW	15	54,612,756 (GRCm39)	missense	probably benign	0.28
R6307:Ccn3	UTSW	15	54,611,421 (GRCm39)	critical splice donor site	probably null
R6472:Ccn3	UTSW	15	54,612,668 (GRCm39)	missense	possibly damaging	0.95
R6557:Ccn3	UTSW	15	54,611,323 (GRCm39)	nonsense	probably null
R7000:Ccn3	UTSW	15	54,615,743 (GRCm39)	missense	probably damaging	1.00
R7029:Ccn3	UTSW	15	54,611,171 (GRCm39)	missense	possibly damaging	0.89
R7957:Ccn3	UTSW	15	54,609,734 (GRCm39)	missense	possibly damaging	0.93
R9030:Ccn3	UTSW	15	54,615,687 (GRCm39)	missense	probably damaging	1.00
X0063:Ccn3	UTSW	15	54,609,717 (GRCm39)	missense	probably benign	0.06

Posted On

2014-05-07