Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02690:Ccn3'

303713

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: 0.120) question?

Stock #

IGL02690

Quality Score

Status

Chromosome

Chromosomal Location

54609306-54617158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54611198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 111 (Y111C)

Ref Sequence

ENSEMBL: ENSMUSP00000054389 (fasta)

Gene Model

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

AlphaFold

Q64299

Predicted Effect

probably damaging
Transcript: ENSMUST00000050027
AA Change: Y111C

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

SMART Domains

Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: Y111C

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,787,921 (GRCm39)	V896A	probably damaging	Het
Ahnak	C	A	19: 8,989,948 (GRCm39)	S3744*	probably null	Het
Aldh7a1	A	G	18: 56,661,427 (GRCm39)		probably benign	Het
Ankk1	T	A	9: 49,333,200 (GRCm39)	I95F	probably damaging	Het
Borcs8	C	A	8: 70,617,738 (GRCm39)	A32D	probably damaging	Het
Cdh1	T	A	8: 107,384,516 (GRCm39)	I328N	probably damaging	Het
Cebpz	C	T	17: 79,229,986 (GRCm39)	D856N	probably damaging	Het
Clip2	T	A	5: 134,539,013 (GRCm39)		probably benign	Het
Dock7	C	A	4: 98,857,872 (GRCm39)	V1451F	possibly damaging	Het
Edem3	T	G	1: 151,680,550 (GRCm39)	C558W	probably damaging	Het
Eif3f	T	C	7: 108,533,925 (GRCm39)	V96A	probably damaging	Het
Gen1	A	G	12: 11,291,576 (GRCm39)	S738P	probably damaging	Het
Ipo8	A	T	6: 148,678,861 (GRCm39)	S912R	probably benign	Het
Kcp	G	T	6: 29,484,998 (GRCm39)		probably benign	Het
Larp7-ps	T	A	4: 92,079,248 (GRCm39)	D191V	probably damaging	Het
Lrrfip1	A	G	1: 90,981,383 (GRCm39)	T2A	probably damaging	Het
Lyst	A	G	13: 13,815,710 (GRCm39)	E1198G	possibly damaging	Het
Maml1	A	G	11: 50,149,457 (GRCm39)	L761P	probably damaging	Het
Mon2	T	A	10: 122,845,532 (GRCm39)	E1392V	possibly damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Or13c7b	G	A	4: 43,821,190 (GRCm39)	T57M	possibly damaging	Het
Or5k17	G	A	16: 58,746,214 (GRCm39)	T240I	possibly damaging	Het
Rag2	A	T	2: 101,459,839 (GRCm39)	I50L	probably benign	Het
Rasgrf2	T	C	13: 92,167,273 (GRCm39)	N267D	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsc1a1	A	T	4: 141,412,612 (GRCm39)	V100D	probably damaging	Het
Rtp1	T	C	16: 23,250,132 (GRCm39)	Y166H	probably damaging	Het
Scly	A	T	1: 91,233,047 (GRCm39)	T109S	probably benign	Het
Scn8a	A	T	15: 100,868,135 (GRCm39)	S327C	probably damaging	Het
Sgsm1	T	C	5: 113,434,633 (GRCm39)		probably benign	Het
Slc4a9	A	G	18: 36,665,040 (GRCm39)	Y463C	probably damaging	Het
Speer1j	C	T	5: 11,555,228 (GRCm39)	Q66*	probably null	Het
Sptan1	A	G	2: 29,888,195 (GRCm39)	M936V	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tbx20	T	A	9: 24,685,033 (GRCm39)	N37Y	probably benign	Het
Tent4a	T	A	13: 69,658,744 (GRCm39)	M364L	probably benign	Het
Tex14	C	T	11: 87,377,100 (GRCm39)	T148I	probably benign	Het
Ubxn7	A	G	16: 32,200,423 (GRCm39)	E371G	probably benign	Het
Ugt2b35	T	C	5: 87,149,096 (GRCm39)	F116L	probably benign	Het
Vmn2r111	C	T	17: 22,778,023 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,003,091 (GRCm39)	L167P	probably benign	Het
Vps13b	T	C	15: 35,917,288 (GRCm39)	W3711R	probably damaging	Het
Wdr5	A	T	2: 27,424,840 (GRCm39)	T326S	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
IGL02027:Ccn3	APN	15	54,611,330 (GRCm39)	missense	probably damaging	0.98
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

2015-04-16