Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Ccn4'

230822

Institutional Source

Beutler Lab

Gene Symbol

Ccn4

Ensembl Gene

ENSMUSG00000005124

Gene Name

cellular communication network factor 4

Synonyms

Wisp1, Elm1, CCN4

MMRRC Submission

040108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66763337-66795050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66791176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 326 (E326G)

Ref Sequence

ENSEMBL: ENSMUSP00000005255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005255] [ENSMUST00000118823] [ENSMUST00000147079]

AlphaFold

O54775

Predicted Effect

probably benign
Transcript: ENSMUST00000005255
AA Change: E326G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124
AA Change: E326G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IB	49	117	6.39e-13	SMART
VWC	123	185	5.63e-13	SMART
TSP1	217	260	4.34e-5	SMART
CT	278	347	1.42e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118823

SMART Domains

Protein: ENSMUSP00000113144
Gene: ENSMUSG00000005124

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IB	49	117	3.19e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133863

Predicted Effect

probably benign
Transcript: ENSMUST00000147079

SMART Domains

Protein: ENSMUSP00000117402
Gene: ENSMUSG00000005124

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230535

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

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 may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,383,527 (GRCm39)	V563I	probably benign	Het
Amer3	T	C	1: 34,627,759 (GRCm39)	V666A	probably benign	Het
Ankrd16	A	G	2: 11,784,711 (GRCm39)		probably benign	Het
Ankub1	G	T	3: 57,580,296 (GRCm39)	C120*	probably null	Het
Arhgap31	T	C	16: 38,445,941 (GRCm39)	I135V	probably benign	Het
Atp2c2	G	A	8: 120,476,584 (GRCm39)	G633D	probably benign	Het
Camta1	T	A	4: 151,537,751 (GRCm39)	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727 (GRCm39)	S1267P	probably benign	Het
Cdh1	T	A	8: 107,380,391 (GRCm39)		probably benign	Het
Cdhr4	C	A	9: 107,873,460 (GRCm39)	D397E	probably damaging	Het
Cdk6	T	G	5: 3,394,387 (GRCm39)	S7R	probably benign	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cilp2	C	A	8: 70,335,442 (GRCm39)	E519*	probably null	Het
Clybl	A	G	14: 122,548,718 (GRCm39)	Y40C	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329 (GRCm39)	*732W	probably null	Het
Ctns	A	T	11: 73,083,907 (GRCm39)	S38R	probably benign	Het
Cwh43	A	T	5: 73,578,873 (GRCm39)	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,385,635 (GRCm39)	D830E	probably benign	Het
Dmxl2	A	G	9: 54,322,848 (GRCm39)	V1512A	probably damaging	Het
Dnah9	A	T	11: 65,951,950 (GRCm39)	C1850S	probably damaging	Het
Dpp8	C	T	9: 64,981,849 (GRCm39)		probably null	Het
Enam	A	T	5: 88,649,646 (GRCm39)	Q385L	probably damaging	Het
Etv3	A	G	3: 87,443,369 (GRCm39)	T318A	possibly damaging	Het
Exd2	T	G	12: 80,543,575 (GRCm39)	I586S	probably benign	Het
Fat3	A	G	9: 15,909,813 (GRCm39)	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,734 (GRCm39)		probably null	Het
Foxc2	A	G	8: 121,844,819 (GRCm39)	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,308,028 (GRCm39)	E540G	probably damaging	Het
Hrg	T	C	16: 22,774,949 (GRCm39)	I193T	probably benign	Het
Ifih1	G	A	2: 62,440,889 (GRCm39)	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,596,920 (GRCm39)	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Inpp1	T	G	1: 52,838,577 (GRCm39)	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,545,454 (GRCm39)	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,639,177 (GRCm39)	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,755,224 (GRCm39)	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,730,744 (GRCm39)	A165D	probably benign	Het
Mcub	T	A	3: 129,712,337 (GRCm39)	R179S	probably benign	Het
Mdfi	G	C	17: 48,135,562 (GRCm39)	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843 (GRCm39)		probably null	Het
Meox2	A	G	12: 37,217,476 (GRCm39)	T226A	probably damaging	Het
Mipol1	A	G	12: 57,352,842 (GRCm39)		probably null	Het
Mms22l	T	G	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Mn1	T	C	5: 111,602,617 (GRCm39)	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,614,547 (GRCm39)	S277R	probably damaging	Het
Muc6	C	A	7: 141,213,991 (GRCm39)	V2845L	probably benign	Het
Mup5	C	A	4: 61,751,962 (GRCm39)	G96C	probably damaging	Het
Neb	T	A	2: 52,146,826 (GRCm39)	M2813L	probably benign	Het
Neb	C	A	2: 52,161,570 (GRCm39)	R2074L	probably damaging	Het
Oasl2	A	T	5: 115,049,063 (GRCm39)	K168*	probably null	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
P2rx2	C	T	5: 110,489,007 (GRCm39)	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897 (GRCm38)		probably null	Het
Rims4	C	T	2: 163,706,785 (GRCm39)		probably null	Het
Rtn4ip1	T	A	10: 43,808,402 (GRCm39)	W60R	probably benign	Het
Sccpdh	T	C	1: 179,498,162 (GRCm39)	S69P	probably benign	Het
Serpina3b	T	A	12: 104,105,069 (GRCm39)	I415N	probably benign	Het
Slc22a4	T	C	11: 53,874,436 (GRCm39)		probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slit1	T	C	19: 41,590,686 (GRCm39)	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,548,826 (GRCm39)	F138V	probably benign	Het
Taar7a	T	C	10: 23,868,959 (GRCm39)	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,946,588 (GRCm39)	E339G	probably benign	Het
Tep1	A	G	14: 51,088,037 (GRCm39)		probably benign	Het
Tgds	A	T	14: 118,359,149 (GRCm39)	Y146*	probably null	Het
Tgm3	G	A	2: 129,879,403 (GRCm39)	V332I	probably benign	Het
Tnnt2	A	G	1: 135,771,547 (GRCm39)		probably benign	Het
Top1	T	A	2: 160,546,739 (GRCm39)	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,195,181 (GRCm39)		probably benign	Het
Tpst1	A	G	5: 130,131,202 (GRCm39)	N224S	probably benign	Het
Traf4	A	G	11: 78,050,840 (GRCm39)	F439L	probably damaging	Het
Trim58	A	G	11: 58,533,964 (GRCm39)		probably benign	Het
Tspan31	T	C	10: 126,904,004 (GRCm39)	N205S	probably damaging	Het
Ube3a	T	A	7: 58,926,225 (GRCm39)	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,477,541 (GRCm39)		probably null	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Yipf7	T	A	5: 69,678,462 (GRCm39)	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,414,190 (GRCm39)	T75S	probably benign	Het

Other mutations in Ccn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03051:Ccn4	APN	15	66,778,399 (GRCm39)	nonsense	probably null
IGL03057:Ccn4	APN	15	66,763,489 (GRCm39)	splice site	probably benign
R0029:Ccn4	UTSW	15	66,784,713 (GRCm39)	missense	probably damaging	1.00
R0125:Ccn4	UTSW	15	66,789,194 (GRCm39)	missense	possibly damaging	0.82
R0164:Ccn4	UTSW	15	66,791,059 (GRCm39)	missense	probably damaging	1.00
R0164:Ccn4	UTSW	15	66,791,059 (GRCm39)	missense	probably damaging	1.00
R0470:Ccn4	UTSW	15	66,789,227 (GRCm39)	missense	probably benign	0.13
R0847:Ccn4	UTSW	15	66,791,124 (GRCm39)	missense	probably damaging	1.00
R1463:Ccn4	UTSW	15	66,791,120 (GRCm39)	missense	possibly damaging	0.52
R1623:Ccn4	UTSW	15	66,763,448 (GRCm39)	missense	possibly damaging	0.46
R1785:Ccn4	UTSW	15	66,778,338 (GRCm39)	missense	probably damaging	1.00
R1786:Ccn4	UTSW	15	66,778,338 (GRCm39)	missense	probably damaging	1.00
R2027:Ccn4	UTSW	15	66,789,258 (GRCm39)	missense	possibly damaging	0.50
R2440:Ccn4	UTSW	15	66,784,706 (GRCm39)	missense	possibly damaging	0.71
R3791:Ccn4	UTSW	15	66,791,137 (GRCm39)	missense	probably damaging	1.00
R4748:Ccn4	UTSW	15	66,778,489 (GRCm39)	nonsense	probably null
R5317:Ccn4	UTSW	15	66,789,131 (GRCm39)	missense	probably benign
R6960:Ccn4	UTSW	15	66,791,047 (GRCm39)	missense	probably benign	0.00
R7144:Ccn4	UTSW	15	66,784,879 (GRCm39)	missense	probably damaging	0.99
R8237:Ccn4	UTSW	15	66,791,083 (GRCm39)	missense	probably benign	0.23
R9140:Ccn4	UTSW	15	66,791,157 (GRCm39)	missense	probably damaging	0.96
R9364:Ccn4	UTSW	15	66,784,900 (GRCm39)	missense	probably benign	0.01
R9554:Ccn4	UTSW	15	66,784,900 (GRCm39)	missense	probably benign	0.01
R9598:Ccn4	UTSW	15	66,784,764 (GRCm39)	missense	possibly damaging	0.55
R9644:Ccn4	UTSW	15	66,784,785 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AGTACTAACCAAGGCTCCTTTCC -3'
(R):5'- GAAGTCCTGGACCACAAAGG -3'

Sequencing Primer
(F):5'- AAGGCTCCTTTCCCTTCCTGAAG -3'
(R):5'- CACAAAGGGCTGGCTGCTTTG -3'

Posted On

2014-09-18