Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Ccn6'

62027

Institutional Source

Beutler Lab

Gene Symbol

Ccn6

Ensembl Gene

ENSMUSG00000062074

Gene Name

cellular communication network factor 6

Synonyms

LOC327743, CCN6, Wisp3

MMRRC Submission

038851-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0666 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

39026966-39039790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39027285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 316 (R316G)

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: R316G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: R316G

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: ENSMUST00000213898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214493

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (89/89)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 52,958,591 (GRCm39)	V782E	probably damaging	Het
Atg9a	A	G	1: 75,161,734 (GRCm39)	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,689,974 (GRCm39)	I482V	probably benign	Het
Bltp2	T	G	11: 78,178,813 (GRCm39)	M2026R	probably damaging	Het
Bltp2	T	A	11: 78,168,038 (GRCm39)	L1491*	probably null	Het
Ccdc18	T	G	5: 108,311,530 (GRCm39)	V412G	probably benign	Het
Cct6a	A	G	5: 129,871,449 (GRCm39)		noncoding transcript	Het
Clpx	A	G	9: 65,217,507 (GRCm39)	N25S	probably damaging	Het
Cnpy2	T	A	10: 128,162,894 (GRCm39)	C171*	probably null	Het
Cntnap3	C	T	13: 64,905,211 (GRCm39)	D857N	probably damaging	Het
Col5a1	A	G	2: 27,922,697 (GRCm39)	Y255C	probably damaging	Het
Coro7	A	T	16: 4,449,775 (GRCm39)	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,673,153 (GRCm39)	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,119,063 (GRCm39)	I1842N	possibly damaging	Het
Dgkg	T	A	16: 22,381,480 (GRCm39)	D490V	probably damaging	Het
Dnah9	A	T	11: 65,976,284 (GRCm39)	M1255K	probably benign	Het
E2f1	A	G	2: 154,402,849 (GRCm39)	V306A	probably benign	Het
Entpd1	A	G	19: 40,648,350 (GRCm39)		probably benign	Het
Esrrb	T	A	12: 86,552,676 (GRCm39)	I222N	probably benign	Het
Flt4	G	T	11: 49,516,274 (GRCm39)	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,457,145 (GRCm39)	T237I	possibly damaging	Het
Galnt2l	A	T	8: 122,997,727 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,250,983 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,438,726 (GRCm39)	T222A	possibly damaging	Het
Herc1	T	A	9: 66,392,170 (GRCm39)		probably benign	Het
Hsph1	T	C	5: 149,554,967 (GRCm39)	Y105C	probably damaging	Het
Il23r	T	C	6: 67,411,664 (GRCm39)	T358A	probably benign	Het
Il2ra	C	T	2: 11,647,884 (GRCm39)		probably benign	Het
Kbtbd4	G	T	2: 90,744,459 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,781,255 (GRCm39)		probably benign	Het
Kng2	A	G	16: 22,815,872 (GRCm39)		probably benign	Het
Lap3	C	T	5: 45,669,270 (GRCm39)	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,641,273 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,366,696 (GRCm39)	N534D	possibly damaging	Het
Mtg1	G	A	7: 139,724,257 (GRCm39)	V122I	probably benign	Het
Myadm	T	A	7: 3,345,865 (GRCm39)	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,703,981 (GRCm39)	V75I	probably benign	Het
Or4b1b	A	T	2: 90,112,212 (GRCm39)	S236T	probably damaging	Het
Or8u10	G	A	2: 85,915,557 (GRCm39)	A188V	probably benign	Het
Pfn1	T	C	11: 70,545,192 (GRCm39)	T39A	probably benign	Het
Pipox	T	A	11: 77,774,651 (GRCm39)	K144M	probably benign	Het
Plekhh1	G	A	12: 79,115,889 (GRCm39)	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,063,506 (GRCm39)	W295R	probably benign	Het
Prkacb	T	A	3: 146,457,273 (GRCm39)	T136S	probably damaging	Het
Ralbp1	T	A	17: 66,161,124 (GRCm39)	N473I	probably benign	Het
Rbp4	G	A	19: 38,106,908 (GRCm39)	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,424 (GRCm39)		probably benign	Het
Scg3	G	T	9: 75,551,222 (GRCm39)	Y429*	probably null	Het
Shisal2b	G	T	13: 104,994,862 (GRCm39)	T95K	possibly damaging	Het
Spag5	T	C	11: 78,204,222 (GRCm39)	S492P	probably damaging	Het
St7	T	A	6: 17,934,238 (GRCm39)	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,712,618 (GRCm39)	V281F	possibly damaging	Het
Sun5	A	G	2: 153,700,968 (GRCm39)	V242A	possibly damaging	Het
Susd5	G	T	9: 113,924,852 (GRCm39)	R245L	possibly damaging	Het
Syne2	A	G	12: 75,969,787 (GRCm39)	E954G	probably damaging	Het
Synpo2	A	T	3: 122,907,708 (GRCm39)	V536E	probably damaging	Het
Tas2r140	T	C	6: 133,032,405 (GRCm39)	I118V	probably benign	Het
Tbx18	C	A	9: 87,606,462 (GRCm39)	V228L	probably benign	Het
Tdrd9	T	A	12: 111,974,014 (GRCm39)		probably benign	Het
Tektl1	C	A	10: 78,586,381 (GRCm39)	L223F	probably benign	Het
Tg	T	C	15: 66,609,370 (GRCm39)	M310T	probably benign	Het
Ticam2	T	A	18: 46,693,718 (GRCm39)	D123V	probably damaging	Het
Timm23	A	G	14: 31,920,993 (GRCm39)		probably benign	Het
Tinag	C	T	9: 76,912,969 (GRCm39)	R280H	probably benign	Het
Topbp1	G	A	9: 103,186,011 (GRCm39)	R51K	probably benign	Het
Tor1b	A	G	2: 30,843,925 (GRCm39)	I121V	probably damaging	Het
Tpmt	C	A	13: 47,185,930 (GRCm39)	G148V	probably damaging	Het
Tubb1	A	G	2: 174,299,548 (GRCm39)	E410G	probably damaging	Het
Ubash3b	C	A	9: 40,958,360 (GRCm39)	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,433,661 (GRCm39)	E686K	probably damaging	Het
Unc13d	T	A	11: 115,960,318 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,601 (GRCm39)	M135L	probably benign	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,168,697 (GRCm39)	N935K	unknown	Het
Zc3h7a	G	A	16: 10,974,167 (GRCm39)		probably benign	Het
Zfp84	C	T	7: 29,476,276 (GRCm39)	H323Y	probably damaging	Het
Zfp873	G	T	10: 81,896,595 (GRCm39)	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,061,606 (GRCm39)	L338P	probably damaging	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
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
R3833:Ccn6	UTSW	10	39,030,945 (GRCm39)	missense	probably benign	0.00
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'- ACCTGGAGCCATTTGCCTGTATATTACT -3'
(R):5'- CCTTTTCAGATCCCCAGAGGAGAAACAT -3'

Sequencing Primer
(F):5'- GCAAGCTAAGAATGGTCACTATCTC -3'
(R):5'- GAGAAACATGTCAACCCACTTTCC -3'

Posted On

2013-07-30