Mutagenetix > Incidental Mutation

Incidental Mutation 'R7957:Ccn3'

649913

Institutional Source

Beutler Lab

Gene Symbol

Ccn3

Ensembl Gene

ENSMUSG00000037362

Gene Name

cellular communication network factor 3

Synonyms

C130088N23Rik, CCN3, Nov

MMRRC Submission

046001-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R7957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54609306-54617158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54609734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 78 (S78I)

Ref Sequence

ENSEMBL: ENSMUSP00000054389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050027]

AlphaFold

Q64299

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050027
AA Change: S78I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: S78I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IB	27	98	8.2e-34	SMART
VWC	104	167	6.08e-18	SMART
low complexity region	172	181	N/A	INTRINSIC
TSP1	204	247	5.51e-7	SMART
CT	266	335	1.18e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,439 (GRCm39)	M1T	probably null	Het
Abhd2	T	A	7: 78,975,194 (GRCm39)	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,298 (GRCm39)	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,040,131 (GRCm39)	T438A	probably benign	Het
Cebpa	A	G	7: 34,819,867 (GRCm39)	I342V	possibly damaging	Het
Chd9	T	C	8: 91,778,326 (GRCm39)	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,661,221 (GRCm39)	P577T	probably benign	Het
Col17a1	T	C	19: 47,649,556 (GRCm39)	D755G	probably damaging	Het
Col5a3	A	G	9: 20,685,347 (GRCm39)	V1443A	unknown	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Fam193a	A	G	5: 34,619,430 (GRCm39)	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,399,267 (GRCm39)	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410 (GRCm39)	T149A	probably damaging	Het
Gm3667	T	C	14: 18,269,663 (GRCm39)	N156D	probably benign	Het
Hpcal1	T	A	12: 17,841,171 (GRCm39)	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,394,777 (GRCm39)	E342*	probably null	Het
Ints13	A	G	6: 146,452,264 (GRCm39)	S652P	probably damaging	Het
Kansl2	C	A	15: 98,422,499 (GRCm39)	E356D	probably benign	Het
Klhl6	T	C	16: 19,768,201 (GRCm39)	E448G	probably null	Het
Mmp14	A	G	14: 54,673,707 (GRCm39)	I124V	probably benign	Het
Morc2b	A	T	17: 33,354,747 (GRCm39)	D1008E	probably benign	Het
Muc16	A	C	9: 18,554,767 (GRCm39)	V3842G	unknown	Het
Myo9b	A	T	8: 71,807,405 (GRCm39)	I1614F	probably benign	Het
Nipa1	A	T	7: 55,629,547 (GRCm39)	C189S	probably damaging	Het
Ntn4	T	C	10: 93,480,335 (GRCm39)		probably benign	Het
Or12k5	A	G	2: 36,894,972 (GRCm39)	I218T	probably benign	Het
Or2t29	A	G	11: 58,433,624 (GRCm39)	L239P	probably damaging	Het
Or3a4	A	C	11: 73,944,982 (GRCm39)	L201R	probably damaging	Het
Or4x13	A	T	2: 90,231,395 (GRCm39)	Y130F	probably damaging	Het
Or8g17	T	G	9: 38,930,349 (GRCm39)	I163L	probably benign	Het
Pank1	T	A	19: 34,791,096 (GRCm39)	H528L	probably damaging	Het
Pappa2	A	T	1: 158,589,131 (GRCm39)	L1698*	probably null	Het
Park7	A	G	4: 150,988,341 (GRCm39)	S85P	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rapgef2	T	C	3: 79,122,276 (GRCm39)	E30G	probably benign	Het
Rhbdf1	A	G	11: 32,160,523 (GRCm39)	F676L	probably damaging	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scd4	G	T	19: 44,329,687 (GRCm39)	M219I	probably benign	Het
Slfn5	T	A	11: 82,847,613 (GRCm39)	I166N	probably benign	Het
Smim22	A	T	16: 4,826,089 (GRCm39)	D85V	probably damaging	Het
Socs2	T	C	10: 95,250,812 (GRCm39)	E7G	probably benign	Het
Thumpd2	T	C	17: 81,334,157 (GRCm39)	E477G	probably benign	Het
Tlr12	C	T	4: 128,510,483 (GRCm39)	G589D	probably benign	Het
Ttn	A	T	2: 76,595,199 (GRCm39)	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,599,690 (GRCm39)		probably null	Het
Ugt2a3	T	A	5: 87,475,050 (GRCm39)	D398V	probably damaging	Het
Vmn2r88	A	T	14: 51,650,589 (GRCm39)	M101L		Het
Vmn2r93	A	T	17: 18,545,954 (GRCm39)	R609*	probably null	Het
Zfp473	C	T	7: 44,381,916 (GRCm39)	E806K	probably damaging	Het
Zfp93	T	C	7: 23,974,999 (GRCm39)	L328P	probably damaging	Het

Other mutations in Ccn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Ccn3	APN	15	54,612,656 (GRCm39)	missense	probably damaging	1.00
IGL01480:Ccn3	APN	15	54,615,687 (GRCm39)	missense	probably damaging	1.00
IGL01727:Ccn3	APN	15	54,609,634 (GRCm39)	missense	probably benign	0.17
IGL02027:Ccn3	APN	15	54,611,330 (GRCm39)	missense	probably damaging	0.98
IGL02690:Ccn3	APN	15	54,611,198 (GRCm39)	missense	probably damaging	1.00
IGL03089:Ccn3	APN	15	54,612,680 (GRCm39)	missense	possibly damaging	0.72
IGL03229:Ccn3	APN	15	54,612,704 (GRCm39)	missense	probably benign	0.19
R0556:Ccn3	UTSW	15	54,612,563 (GRCm39)	missense	probably damaging	1.00
R1162:Ccn3	UTSW	15	54,611,178 (GRCm39)	nonsense	probably null
R1321:Ccn3	UTSW	15	54,612,642 (GRCm39)	missense	probably damaging	1.00
R1572:Ccn3	UTSW	15	54,612,648 (GRCm39)	missense	possibly damaging	0.89
R1994:Ccn3	UTSW	15	54,612,750 (GRCm39)	missense	probably benign
R2151:Ccn3	UTSW	15	54,615,854 (GRCm39)	missense	probably benign	0.10
R4785:Ccn3	UTSW	15	54,615,603 (GRCm39)	critical splice acceptor site	probably null
R5165:Ccn3	UTSW	15	54,612,585 (GRCm39)	missense	probably damaging	1.00
R5577:Ccn3	UTSW	15	54,615,897 (GRCm39)	missense	possibly damaging	0.54
R6131:Ccn3	UTSW	15	54,612,756 (GRCm39)	missense	probably benign	0.28
R6307:Ccn3	UTSW	15	54,611,421 (GRCm39)	critical splice donor site	probably null
R6472:Ccn3	UTSW	15	54,612,668 (GRCm39)	missense	possibly damaging	0.95
R6557:Ccn3	UTSW	15	54,611,323 (GRCm39)	nonsense	probably null
R7000:Ccn3	UTSW	15	54,615,743 (GRCm39)	missense	probably damaging	1.00
R7029:Ccn3	UTSW	15	54,611,171 (GRCm39)	missense	possibly damaging	0.89
R9030:Ccn3	UTSW	15	54,615,687 (GRCm39)	missense	probably damaging	1.00
X0063:Ccn3	UTSW	15	54,609,717 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CTTGGTTCGCCCCTGATAAC -3'
(R):5'- TGAAAGCTCTCCACACATGTC -3'

Sequencing Primer
(F):5'- GCCCCTGATAACCTGAGTTCG -3'
(R):5'- CACACATGTCAATTACTGTACTGC -3'

Posted On

2020-09-15