Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Ccn5'

314020

Institutional Source

Beutler Lab

Gene Symbol

Ccn5

Ensembl Gene

ENSMUSG00000027656

Gene Name

cellular communication network factor 5

Synonyms

CCN5, Wisp2, Crgr4, rCop1

MMRRC Submission

041616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163662781-163675066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163670904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000029188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029188]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029188
AA Change: D137G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: D137G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IB	24	93	1.67e-16	SMART
VWC	100	163	5.9e-16	SMART
TSP1	195	239	9.68e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138730

Meta Mutation Damage Score

0.1625

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

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 (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viabe and overtly normal with no adult bone phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Nfe2	C	T	15: 103,159,364 (GRCm39)	E36K	possibly damaging	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Pphln1	C	A	15: 93,362,987 (GRCm39)	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,610,548 (GRCm39)		probably null	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Srsf4	T	C	4: 131,627,854 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,310,561 (GRCm39)	V397A	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably damaging	Het

Other mutations in Ccn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Ccn5	APN	2	163,670,942 (GRCm39)	missense	probably damaging	1.00
BB002:Ccn5	UTSW	2	163,670,961 (GRCm39)	missense	possibly damaging	0.82
BB012:Ccn5	UTSW	2	163,670,961 (GRCm39)	missense	possibly damaging	0.82
R0336:Ccn5	UTSW	2	163,674,242 (GRCm39)	missense	probably damaging	0.98
R0600:Ccn5	UTSW	2	163,667,233 (GRCm39)	missense	probably damaging	1.00
R1241:Ccn5	UTSW	2	163,670,997 (GRCm39)	missense	unknown
R1779:Ccn5	UTSW	2	163,670,906 (GRCm39)	missense	probably damaging	1.00
R2921:Ccn5	UTSW	2	163,674,266 (GRCm39)	missense	probably benign	0.11
R2923:Ccn5	UTSW	2	163,674,266 (GRCm39)	missense	probably benign	0.11
R4344:Ccn5	UTSW	2	163,670,906 (GRCm39)	missense	probably damaging	1.00
R5409:Ccn5	UTSW	2	163,667,158 (GRCm39)	missense	probably damaging	1.00
R5529:Ccn5	UTSW	2	163,667,279 (GRCm39)	critical splice donor site	probably null
R5663:Ccn5	UTSW	2	163,667,173 (GRCm39)	missense	probably damaging	1.00
R6401:Ccn5	UTSW	2	163,670,946 (GRCm39)	missense	probably benign	0.45
R6685:Ccn5	UTSW	2	163,670,868 (GRCm39)	missense	possibly damaging	0.87
R7242:Ccn5	UTSW	2	163,670,772 (GRCm39)	missense	probably benign	0.27
R7925:Ccn5	UTSW	2	163,670,961 (GRCm39)	missense	possibly damaging	0.82
R8066:Ccn5	UTSW	2	163,670,862 (GRCm39)	missense	probably damaging	1.00
R8701:Ccn5	UTSW	2	163,670,786 (GRCm39)	missense	probably damaging	1.00
R8962:Ccn5	UTSW	2	163,667,160 (GRCm39)	nonsense	probably null
R9215:Ccn5	UTSW	2	163,670,966 (GRCm39)	missense	probably damaging	1.00
R9656:Ccn5	UTSW	2	163,670,985 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTCTGTCTTGCTTAAGAGGGAG -3'
(R):5'- TCTAGGAGCTGCTGCAATGG -3'

Sequencing Primer
(F):5'- TGTGCTCTGACCTCAGGAC -3'
(R):5'- TGCTGCAATGGAGACCCTG -3'

Posted On

2015-04-30