Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Ccn6'

164208

Institutional Source

Beutler Lab

Gene Symbol

Ccn6

Ensembl Gene

ENSMUSG00000062074

Gene Name

cellular communication network factor 6

Synonyms

LOC327743, CCN6, Wisp3

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39026966-39039790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39029239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 230 (R230W)

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 damaging
Transcript: ENSMUST00000076713
AA Change: R230W

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

SMART Domains

Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: R230W

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,201,059 (GRCm39)	N326K	probably benign	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dclk3	G	A	9: 111,297,614 (GRCm39)	S386N	probably benign	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,711,314 (GRCm39)	N241D	probably damaging	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prdx6	G	A	1: 161,071,833 (GRCm39)	A111V	probably damaging	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,332,311 (GRCm39)	H2295P	probably benign	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,153,019 (GRCm39)	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	possibly 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
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
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'- CTGCCGCCCTCTGAGATAATTCAC -3'
(R):5'- ACAAGGCCACACTTGACTGGAAG -3'

Sequencing Primer
(F):5'- TTGATGAGATCCGAGTATAACCCC -3'
(R):5'- TCCTTTCACGTAAAAAGCCTGAG -3'

Posted On

2014-03-28