Mutagenetix > Incidental Mutation

Incidental Mutation 'R3833:Ccn6'

275487

Institutional Source

Beutler Lab

Gene Symbol

Ccn6

Ensembl Gene

ENSMUSG00000062074

Gene Name

cellular communication network factor 6

Synonyms

LOC327743, CCN6, Wisp3

MMRRC Submission

040888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39026966-39039790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39030945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 193 (K193E)

Ref Sequence

ENSEMBL: ENSMUSP00000076003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019991] [ENSMUST00000076713] [ENSMUST00000213459]

AlphaFold

D3Z5L9

Predicted Effect

probably benign
Transcript: ENSMUST00000019991

SMART Domains

Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845

Domain	Start	End	E-Value	Type
Tubulin	55	277	1.08e-38	SMART
Tubulin_C	279	414	9.81e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076713
AA Change: K193E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: K193E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IB	46	116	1.01e-15	SMART
Blast:VWC	122	179	1e-27	BLAST
TSP1	211	253	6.58e-5	SMART
CT	273	342	1.23e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214493

Meta Mutation Damage Score

0.1387

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with no obvious abnormalities in size, weight, skeletal development, ossification, or the occurrence of joint disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	A	9: 101,820,062 (GRCm39)	G161S	probably damaging	Het
Acp7	T	C	7: 28,314,519 (GRCm39)	D282G	probably benign	Het
Atp10d	T	A	5: 72,396,568 (GRCm39)	C258S	possibly damaging	Het
Atp6ap1	T	C	X: 73,340,813 (GRCm39)	I10T	possibly damaging	Het
Atp6v0d2	T	G	4: 19,922,395 (GRCm39)	N35H	probably damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Ccr1	T	C	9: 123,764,324 (GRCm39)	T69A	possibly damaging	Het
Cenpe	T	G	3: 134,928,083 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,178,946 (GRCm39)	G53R	probably damaging	Het
Cstb	T	C	10: 78,263,184 (GRCm39)	F70L	probably benign	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Cyp8b1	C	A	9: 121,745,109 (GRCm39)	Q74H	probably benign	Het
Dennd2a	G	A	6: 39,483,651 (GRCm39)	P403L	probably damaging	Het
Dennd2a	G	T	6: 39,483,657 (GRCm39)	S401Y	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gtf2b	T	A	3: 142,477,153 (GRCm39)	D8E	probably benign	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Herc4	A	G	10: 63,081,739 (GRCm39)	I21V	probably benign	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Igsf8	G	T	1: 172,145,837 (GRCm39)	A315S	probably benign	Het
Il1a	T	C	2: 129,148,599 (GRCm39)	D37G	possibly damaging	Het
Iqcb1	T	A	16: 36,652,276 (GRCm39)	C62*	probably null	Het
Itgad	A	T	7: 127,785,405 (GRCm39)	T381S	probably damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kalrn	T	A	16: 33,860,259 (GRCm39)	R199*	probably null	Het
Kif24	G	T	4: 41,395,064 (GRCm39)	A603D	probably damaging	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klrc3	A	G	6: 129,620,181 (GRCm39)	L24P	probably damaging	Het
Lmnb1	A	C	18: 56,861,598 (GRCm39)	D163A	probably benign	Het
Lrrc9	T	C	12: 72,529,765 (GRCm39)	L912P	probably damaging	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh1	C	T	15: 76,285,819 (GRCm39)	T71I	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgap1	A	G	1: 54,596,624 (GRCm39)	M39T	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r12c	T	A	7: 4,485,785 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rhbdf2	T	A	11: 116,495,250 (GRCm39)	D251V	probably damaging	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Sdsl	C	A	5: 120,601,183 (GRCm39)	A30S	probably benign	Het
Slc26a6	C	T	9: 108,733,117 (GRCm39)	T32I	possibly damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Tmem121b	C	T	6: 120,469,841 (GRCm39)	G292E	probably damaging	Het
Trim63	A	G	4: 134,048,507 (GRCm39)	N172S	probably benign	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Zdhhc16	T	A	19: 41,926,553 (GRCm39)		probably null	Het
Zfp1010	T	C	2: 176,956,998 (GRCm39)	S167G	possibly damaging	Het
Zfp709	G	A	8: 72,642,906 (GRCm39)	V112M	probably benign	Het

Other mutations in Ccn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Ccn6	APN	10	39,034,306 (GRCm39)	missense	probably damaging	1.00
IGL02429:Ccn6	APN	10	39,030,989 (GRCm39)	missense	probably benign	0.03
IGL02675:Ccn6	APN	10	39,027,236 (GRCm39)	missense	possibly damaging	0.77
IGL03160:Ccn6	APN	10	39,029,233 (GRCm39)	missense	probably damaging	1.00
IGL03214:Ccn6	APN	10	39,029,163 (GRCm39)	missense	probably benign	0.04
R0666:Ccn6	UTSW	10	39,027,285 (GRCm39)	missense	probably benign	0.45
R1350:Ccn6	UTSW	10	39,034,302 (GRCm39)	missense	probably damaging	1.00
R1478:Ccn6	UTSW	10	39,029,239 (GRCm39)	missense	probably damaging	1.00
R1479:Ccn6	UTSW	10	39,029,239 (GRCm39)	missense	probably damaging	1.00
R1624:Ccn6	UTSW	10	39,029,239 (GRCm39)	missense	probably damaging	1.00
R3975:Ccn6	UTSW	10	39,031,094 (GRCm39)	missense	probably damaging	1.00
R5051:Ccn6	UTSW	10	39,031,152 (GRCm39)	missense	probably benign	0.00
R6000:Ccn6	UTSW	10	39,034,296 (GRCm39)	missense	probably damaging	1.00
R6492:Ccn6	UTSW	10	39,030,983 (GRCm39)	missense	probably benign	0.01
R6775:Ccn6	UTSW	10	39,027,351 (GRCm39)	missense	probably damaging	0.99
R7053:Ccn6	UTSW	10	39,034,297 (GRCm39)	missense	probably damaging	1.00
R7138:Ccn6	UTSW	10	39,034,473 (GRCm39)	missense	possibly damaging	0.80
R7253:Ccn6	UTSW	10	39,031,031 (GRCm39)	missense	probably benign	0.04
R7367:Ccn6	UTSW	10	39,034,261 (GRCm39)	missense	probably damaging	1.00
R7475:Ccn6	UTSW	10	39,034,296 (GRCm39)	missense	probably damaging	1.00
R8417:Ccn6	UTSW	10	39,027,207 (GRCm39)	nonsense	probably null
R8547:Ccn6	UTSW	10	39,027,194 (GRCm39)	missense	probably damaging	1.00
R9781:Ccn6	UTSW	10	39,027,167 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTTCCCGAAGAAGCAGAGGTG -3'
(R):5'- GCCAAGTATTTCAGCCCCAC -3'

Sequencing Primer
(F):5'- CAGAAGTTTCCTGATCAAGTAAGG -3'
(R):5'- AGTATTTCAGCCCCACCCACTG -3'

Posted On

2015-04-06