Mutagenetix > Incidental Mutation

Incidental Mutation 'R0336:Ccn5'

34098

Institutional Source

Beutler Lab

Gene Symbol

Ccn5

Ensembl Gene

ENSMUSG00000027656

Gene Name

cellular communication network factor 5

Synonyms

CCN5, Wisp2, Crgr4, rCop1

MMRRC Submission

038545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163662781-163675066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 163674242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 214 (A214D)

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: A214D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: A214D

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

0.4324

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,481 (GRCm39)	I2743V	probably benign	Het
Adamts16	A	G	13: 70,939,913 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,458,998 (GRCm39)	I427V	probably benign	Het
Arhgef1	T	A	7: 24,621,382 (GRCm39)	F510I	possibly damaging	Het
B3glct	A	G	5: 149,670,057 (GRCm39)	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,159,353 (GRCm39)	V44F	probably damaging	Het
Brca1	A	G	11: 101,414,819 (GRCm39)	V1105A	probably benign	Het
Cep135	A	G	5: 76,749,349 (GRCm39)	H272R	probably benign	Het
Coa8	T	C	12: 111,700,092 (GRCm39)		probably benign	Het
Cog1	A	C	11: 113,553,076 (GRCm39)	H365P	probably benign	Het
Col12a1	A	T	9: 79,609,627 (GRCm39)	L293Q	probably damaging	Het
Col18a1	A	G	10: 76,894,570 (GRCm39)	L1493P	probably damaging	Het
Ctsh	A	G	9: 89,957,791 (GRCm39)	Y290C	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb39	G	T	8: 19,102,985 (GRCm39)	H37N	possibly damaging	Het
Epha3	A	G	16: 63,387,011 (GRCm39)	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fndc1	C	T	17: 7,983,939 (GRCm39)	R1329Q	unknown	Het
Fyn	C	A	10: 39,402,897 (GRCm39)	T223K	possibly damaging	Het
Galnt6	A	T	15: 100,597,087 (GRCm39)	S360T	probably damaging	Het
Grsf1	C	A	5: 88,811,012 (GRCm39)	V336F	probably damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hivep3	G	A	4: 119,961,044 (GRCm39)	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,746,178 (GRCm39)	S176P	probably damaging	Het
Lilrb4b	T	A	10: 51,357,389 (GRCm39)	L75Q	probably benign	Het
Lrig3	C	T	10: 125,802,574 (GRCm39)	T77I	probably benign	Het
Mpped1	C	T	15: 83,720,483 (GRCm39)	P135L	probably damaging	Het
Mss51	T	A	14: 20,533,254 (GRCm39)	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,155,040 (GRCm39)	N956D	probably damaging	Het
Or4a27	T	C	2: 88,559,498 (GRCm39)	I148M	possibly damaging	Het
Podxl2	G	A	6: 88,826,577 (GRCm39)	T243I	probably benign	Het
Polr2a	C	T	11: 69,627,719 (GRCm39)	R1396Q	possibly damaging	Het
Pramel51	T	C	12: 88,144,961 (GRCm39)	I122V	probably benign	Het
Pygm	C	T	19: 6,438,788 (GRCm39)	R205W	probably damaging	Het
Rfx3	A	G	19: 27,783,662 (GRCm39)	M428T	probably benign	Het
Ric1	A	T	19: 29,565,193 (GRCm39)	T647S	probably damaging	Het
Rictor	G	A	15: 6,806,234 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,152,350 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,935,892 (GRCm39)	I41K	probably damaging	Het
St8sia4	T	A	1: 95,581,283 (GRCm39)	D153V	probably benign	Het
Stk33	T	C	7: 108,930,681 (GRCm39)	N226S	probably benign	Het
Strn3	A	G	12: 51,708,391 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,111,289 (GRCm39)	N539K	probably benign	Het
Tmem129	G	T	5: 33,812,946 (GRCm39)	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,678,211 (GRCm39)	I145V	probably benign	Het
Trap1	A	C	16: 3,862,490 (GRCm39)	V596G	probably damaging	Het
Tspan2	A	G	3: 102,642,343 (GRCm39)	I11V	probably null	Het
Ttc23	A	T	7: 67,312,231 (GRCm39)	H46L	probably benign	Het
Txnip	T	A	3: 96,467,295 (GRCm39)	D292E	probably benign	Het
Vmn1r121	T	A	7: 20,832,387 (GRCm39)	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,614,066 (GRCm39)	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,039,248 (GRCm39)	S174P	probably benign	Het
Vmn2r79	A	C	7: 86,651,287 (GRCm39)	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,279 (GRCm39)	Y729*	probably null	Het
Xdh	C	T	17: 74,229,458 (GRCm39)	V332M	possibly damaging	Het
Xkr5	C	A	8: 18,990,652 (GRCm39)	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,169,103 (GRCm39)	S1071P	unknown	Het
Zc3h6	A	G	2: 128,857,332 (GRCm39)	H617R	possibly damaging	Het
Zfp597	A	G	16: 3,684,243 (GRCm39)	V171A	probably benign	Het
Zfp709	T	C	8: 72,644,449 (GRCm39)	F626S	probably damaging	Het
Zfp944	C	A	17: 22,558,009 (GRCm39)	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,697,592 (GRCm39)	S372R	possibly 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
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
R4049:Ccn5	UTSW	2	163,670,904 (GRCm39)	missense	probably damaging	1.00
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'- TGCATTGTGCTCAGACGCTCTC -3'
(R):5'- AATGGCAGGCCCTGTATCCACATC -3'

Sequencing Primer
(F):5'- CTACTGCTTGTTAGAAAGCCCAG -3'
(R):5'- CCCCGCAATGGCTCTAGAAG -3'

Posted On

2013-05-09