Mutagenetix > Incidental Mutation

Incidental Mutation 'R6131:Ccn3'

487151

Institutional Source

Beutler Lab

Gene Symbol

Ccn3

Ensembl Gene

ENSMUSG00000037362

Gene Name

cellular communication network factor 3

Synonyms

C130088N23Rik, CCN3, Nov

MMRRC Submission

044278-MU

Accession Numbers

Essential gene?

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

Stock #

R6131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54609306-54617158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54612756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 255 (D255G)

Ref Sequence

ENSEMBL: ENSMUSP00000054389 (fasta)

Gene Model

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

AlphaFold

Q64299

Predicted Effect

probably benign
Transcript: ENSMUST00000050027
AA Change: D255G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: D255G

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

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,844,793 (GRCm39)	W75R	probably damaging	Het
Aadacl2fm3	A	G	3: 59,776,324 (GRCm39)	K165R	possibly damaging	Het
Abca15	T	C	7: 119,939,428 (GRCm39)	V274A	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ap1m2	T	C	9: 21,207,797 (GRCm39)	Y396C	probably damaging	Het
Apob	T	C	12: 8,065,874 (GRCm39)	S405P	probably benign	Het
Arhgap26	G	T	18: 39,419,638 (GRCm39)	G533*	probably null	Het
Atxn2l	T	C	7: 126,102,337 (GRCm39)		probably benign	Het
Ccdc88c	A	T	12: 100,907,387 (GRCm39)	L995H	probably damaging	Het
Cep192	A	G	18: 67,971,068 (GRCm39)	H1023R	possibly damaging	Het
Cog5	T	A	12: 31,936,220 (GRCm39)	M589K	possibly damaging	Het
Col25a1	C	A	3: 130,329,114 (GRCm39)	P337Q	probably damaging	Het
Cyfip1	T	G	7: 55,523,228 (GRCm39)	V51G	possibly damaging	Het
Dnah7b	A	T	1: 46,292,626 (GRCm39)	I3004F	probably damaging	Het
Dsg3	A	T	18: 20,671,569 (GRCm39)	D758V	probably damaging	Het
Dsg3	A	G	18: 20,653,534 (GRCm39)		probably null	Het
Eml5	A	T	12: 98,827,510 (GRCm39)	H573Q	probably damaging	Het
Erp27	T	C	6: 136,885,201 (GRCm39)	D199G	probably damaging	Het
Flnb	A	G	14: 7,894,635 (GRCm38)	Y811C	possibly damaging	Het
G6pd2	A	T	5: 61,966,593 (GRCm39)	S123C	probably benign	Het
Gm1818	T	A	12: 48,602,319 (GRCm39)		noncoding transcript	Het
Gm29340	C	T	2: 116,798,519 (GRCm39)		noncoding transcript	Het
H2bc7	C	A	13: 23,758,310 (GRCm39)		probably benign	Het
Hcn2	G	T	10: 79,569,742 (GRCm39)	G581W	probably damaging	Het
Kidins220	T	C	12: 25,042,313 (GRCm39)		probably null	Het
Lonp1	T	C	17: 56,921,457 (GRCm39)	E926G	probably benign	Het
Lrp1	T	C	10: 127,396,026 (GRCm39)	I2415V	probably benign	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Mmp10	A	G	9: 7,503,633 (GRCm39)		probably null	Het
Myo16	T	A	8: 10,619,877 (GRCm39)	I1476N	probably benign	Het
Nectin3	G	T	16: 46,215,515 (GRCm39)	H76N	probably damaging	Het
Nphs2	G	A	1: 156,153,521 (GRCm39)	R204Q	probably damaging	Het
Or5ac15	T	C	16: 58,940,256 (GRCm39)	Y59C	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b53	T	A	9: 38,667,362 (GRCm39)	I126N	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pate10	T	A	9: 35,652,840 (GRCm39)	C27*	probably null	Het
Psme2b	T	C	11: 48,836,752 (GRCm39)	D65G	probably damaging	Het
Rlf	T	C	4: 121,012,172 (GRCm39)	K214E	probably damaging	Het
Rnasel	A	T	1: 153,630,206 (GRCm39)	T241S	probably damaging	Het
Samd9l	C	G	6: 3,377,252 (GRCm39)	G3A	probably benign	Het
Smg7	A	G	1: 152,720,962 (GRCm39)		probably null	Het
Spag16	A	G	1: 70,764,242 (GRCm39)		probably null	Het
Spata31d1c	T	A	13: 65,183,485 (GRCm39)	D342E	probably benign	Het
Stab2	A	G	10: 86,719,642 (GRCm39)		probably null	Het
Taar7b	A	T	10: 23,876,615 (GRCm39)	Y260F	probably benign	Het
Vcpip1	T	C	1: 9,817,517 (GRCm39)	I289V	probably damaging	Het
Vmn2r130	C	T	17: 23,282,629 (GRCm39)	A103V	probably benign	Het
Vmn2r39	A	G	7: 9,017,963 (GRCm39)	V791A	probably damaging	Het
Vmn2r66	T	A	7: 84,644,224 (GRCm39)	I729F	probably damaging	Het
Zfp536	T	A	7: 37,269,137 (GRCm39)	D93V	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTCTGACTCCAGCATTAACTG -3'
(R):5'- GTAGACCTGCTGTGAGTTTCC -3'

Sequencing Primer
(F):5'- GCATTGAGCAGACGACGG -3'
(R):5'- GGGAGCATTTGTGTATGTTAAAAATG -3'

Posted On

2017-10-10