Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:Ccn6'

564089

Institutional Source

Beutler Lab

Gene Symbol

Ccn6

Ensembl Gene

ENSMUSG00000062074

Gene Name

cellular communication network factor 6

Synonyms

LOC327743, CCN6, Wisp3

MMRRC Submission

045314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39026966-39039790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39031031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 164 (N164T)

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: N164T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: N164T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391 (GRCm39)	H199R	not run	Het
Ak9	A	G	10: 41,308,480 (GRCm39)	N1804S	unknown	Het
Akr1c21	C	A	13: 4,627,139 (GRCm39)	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,123,216 (GRCm39)	T30A	probably benign	Het
Alox15	T	C	11: 70,236,724 (GRCm39)	D447G	probably damaging	Het
Amigo2	T	C	15: 97,142,956 (GRCm39)	I489V	probably benign	Het
Ano9	A	T	7: 140,687,350 (GRCm39)	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,389,576 (GRCm39)	W583L	probably benign	Het
Atxn2	A	G	5: 121,916,084 (GRCm39)	E430G	probably damaging	Het
Brip1	T	C	11: 86,034,104 (GRCm39)	Y539C	possibly damaging	Het
C87436	T	A	6: 86,442,790 (GRCm39)	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868 (GRCm39)	Y227D	probably benign	Het
Chd4	T	A	6: 125,083,555 (GRCm39)		probably null	Het
Chrna10	A	G	7: 101,761,293 (GRCm39)	C433R	probably benign	Het
Cntln	A	T	4: 85,036,710 (GRCm39)	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922 (GRCm39)	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,255 (GRCm39)	I222T	probably benign	Het
Dagla	A	T	19: 10,239,945 (GRCm39)		probably null	Het
Dcaf7	C	A	11: 105,938,669 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
E2f7	A	G	10: 110,602,164 (GRCm39)		probably null	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Glyctk	T	C	9: 106,032,661 (GRCm39)	T451A	probably damaging	Het
Hectd4	A	G	5: 121,452,944 (GRCm39)	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,637,600 (GRCm39)	C243F	unknown	Het
Hspg2	A	C	4: 137,247,257 (GRCm39)	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,618,728 (GRCm39)	L48F	probably benign	Het
Jazf1	C	A	6: 52,754,637 (GRCm39)	E146D	probably benign	Het
Katnb1	C	T	8: 95,822,125 (GRCm39)	Q284*	probably null	Het
Kctd18	G	T	1: 58,001,115 (GRCm39)	Y213*	probably null	Het
Klk1b26	T	C	7: 43,664,213 (GRCm39)	S23P	possibly damaging	Het
Krt88	T	C	15: 101,348,392 (GRCm39)	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,629,522 (GRCm39)	V623I	probably benign	Het
Map3k4	T	A	17: 12,490,955 (GRCm39)	M159L	probably benign	Het
Mast3	C	A	8: 71,242,326 (GRCm39)		probably null	Het
Mier1	G	A	4: 102,996,544 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,431,207 (GRCm39)	D117G	probably damaging	Het
Ms4a6b	A	G	19: 11,497,760 (GRCm39)	S20G	probably benign	Het
Mup10	A	T	4: 60,538,077 (GRCm39)	M4K	unknown	Het
Nlrp5	C	T	7: 23,116,816 (GRCm39)	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,176,001 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,913,767 (GRCm39)	T2A	probably damaging	Het
Or2a52	T	C	6: 43,144,744 (GRCm39)	F251L	probably damaging	Het
Or2t45	T	C	11: 58,669,822 (GRCm39)	Y290H	probably damaging	Het
Or4c103	T	C	2: 88,513,969 (GRCm39)	T36A	possibly damaging	Het
Or51aa2	C	T	7: 103,187,995 (GRCm39)	A149T	probably benign	Het
Or5af2	T	A	11: 58,708,366 (GRCm39)	C177*	probably null	Het
Or5ak22	A	G	2: 85,229,983 (GRCm39)	I298T	probably benign	Het
Otud1	C	A	2: 19,663,742 (GRCm39)	D290E	probably damaging	Het
Pank4	A	G	4: 155,055,377 (GRCm39)	N249S	probably benign	Het
Pccb	G	T	9: 100,913,966 (GRCm39)	S84R	probably benign	Het
Pemt	A	T	11: 59,862,081 (GRCm39)	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,970,856 (GRCm39)	I634T	possibly damaging	Het
Pias2	T	G	18: 77,207,811 (GRCm39)	I232R	probably damaging	Het
Plce1	A	G	19: 38,686,952 (GRCm39)	E620G	probably damaging	Het
Pramel17	A	T	4: 101,692,725 (GRCm39)	V425E	probably benign	Het
Ptpn13	G	A	5: 103,713,150 (GRCm39)	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,444,134 (GRCm39)	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,132,368 (GRCm39)	M296I	probably benign	Het
R3hdm2	C	T	10: 127,317,644 (GRCm39)	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,589,733 (GRCm39)	E258G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Senp8	T	C	9: 59,644,478 (GRCm39)	N226S	probably benign	Het
Six5	C	T	7: 18,828,901 (GRCm39)	R114C	probably damaging	Het
Slc10a1	T	C	12: 81,004,958 (GRCm39)	T195A	probably benign	Het
Slpi	G	T	2: 164,197,467 (GRCm39)	Q51K	probably benign	Het
Smarca4	T	C	9: 21,570,256 (GRCm39)	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,074,537 (GRCm39)	M225I	probably benign	Het
Tent5a	C	A	9: 85,208,770 (GRCm39)	G18C	probably benign	Het
Tnfrsf21	G	A	17: 43,348,558 (GRCm39)	V57I	probably benign	Het
Trim44	G	T	2: 102,177,313 (GRCm39)	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,703,633 (GRCm39)	I264V	probably damaging	Het
Xirp2	A	C	2: 67,343,826 (GRCm39)	E2022D	probably benign	Het
Zfp975	A	G	7: 42,311,036 (GRCm39)	*526R	probably null	Het
Zp1	A	G	19: 10,893,933 (GRCm39)	L424P	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
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
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
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'- AAGTTCCTACTGCCTGTGGTAC -3'
(R):5'- ACAGTTACAACCGGAGTAGGTC -3'

Sequencing Primer
(F):5'- CTACTGCCTGTGGTACATAAAATGGG -3'
(R):5'- CCGGAGTAGGTCTAACTAACTATAG -3'

Posted On

2019-06-26