Mutagenetix > Incidental Mutation

Incidental Mutation 'R9036:Ccn2'

687406

Institutional Source

Beutler Lab

Gene Symbol

Ccn2

Ensembl Gene

ENSMUSG00000019997

Gene Name

cellular communication network factor 2

Synonyms

Ccn2, Fisp12, hypertrophic chondrocyte-specific gene product 24, Ctgf, Hcs24

MMRRC Submission

068865-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24471340-24474581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24472647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 186 (T186S)

Ref Sequence

ENSEMBL: ENSMUSP00000020171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020171] [ENSMUST00000129142] [ENSMUST00000176228]

AlphaFold

P29268

Predicted Effect

probably benign
Transcript: ENSMUST00000020171
AA Change: T186S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: T186S

Domain	Start	End	E-Value	Type
IB	26	96	1.45e-25	SMART
VWC	102	165	8.52e-22	SMART
TSP1	199	242	7.27e-7	SMART
CT	260	329	1.17e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129142

SMART Domains

Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997

Domain	Start	End	E-Value	Type
IB	3	73	1.45e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176228
AA Change: T186S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: T186S

Domain	Start	End	E-Value	Type
IB	26	96	1.45e-25	SMART
VWC	102	165	8.52e-22	SMART
TSP1	199	242	7.27e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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 mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice die at birth from respiratory failure due to axial skeletal defects and pulmonary hypoplasia associated with reduced cell proliferation, enhanced apoptosis and altered pneumocyte maturation. Osteogenesis is impaired due to impaired chondrogenesis and growth plate angiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	T	11: 54,227,840 (GRCm39)		probably null	Het
Anapc5	A	G	5: 122,957,716 (GRCm39)	L69P	possibly damaging	Het
Aoc1l3	CCTAAATTTCCTATCCCGATCAGCAAGGGTGGCCCTCGAGTGCCCCAGCCCCATGCTAAATTTCC	CCTAAATTTCC	6: 48,965,074 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,055 (GRCm39)	S681T	probably benign	Het
Arhgef19	A	G	4: 140,976,549 (GRCm39)	D437G	probably damaging	Het
Arhgef25	A	G	10: 127,019,089 (GRCm39)	V576A	probably benign	Het
Arl5b	T	C	2: 15,073,012 (GRCm39)		probably null	Het
Atg10	T	A	13: 91,189,071 (GRCm39)	T80S	probably benign	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Bicdl2	C	T	17: 23,887,158 (GRCm39)	R482C	probably damaging	Het
Ccdc63	G	A	5: 122,247,346 (GRCm39)	P500S	probably benign	Het
Ccng1	A	T	11: 40,643,078 (GRCm39)	I123K	possibly damaging	Het
Ccp110	C	T	7: 118,324,680 (GRCm39)	S734F	probably damaging	Het
Cds2	T	C	2: 132,139,614 (GRCm39)		probably null	Het
Cenpw	G	A	10: 30,074,523 (GRCm39)	T58I	probably benign	Het
Cfap61	T	A	2: 145,850,839 (GRCm39)	L326I	probably benign	Het
Cgn	T	A	3: 94,674,551 (GRCm39)	Q862L	possibly damaging	Het
Cntrl	T	A	2: 35,016,071 (GRCm39)	D362E	probably damaging	Het
Col22a1	C	T	15: 71,762,431 (GRCm39)	G76E	probably damaging	Het
Cplane1	C	T	15: 8,252,622 (GRCm39)	T1948I	possibly damaging	Het
Crip2	A	G	12: 113,108,030 (GRCm39)	T140A	probably benign	Het
Csde1	T	C	3: 102,950,976 (GRCm39)	V229A	probably damaging	Het
Cyp2d34	A	G	15: 82,500,523 (GRCm39)	F439L	probably damaging	Het
Dync1h1	A	G	12: 110,606,186 (GRCm39)	T2419A	probably benign	Het
Dync2h1	A	T	9: 7,051,495 (GRCm39)	F3147I	probably damaging	Het
Dynlt1f	T	C	17: 6,916,707 (GRCm39)	T101A	probably benign	Het
Efcab3	A	G	11: 104,927,601 (GRCm39)	H4790R	probably benign	Het
Efcab8	G	A	2: 153,622,888 (GRCm39)	S19N		Het
Eno2	A	T	6: 124,740,091 (GRCm39)	I315K	possibly damaging	Het
Erich3	A	G	3: 154,468,886 (GRCm39)	T1113A	unknown	Het
Fam217a	A	T	13: 35,095,007 (GRCm39)	Y251N	possibly damaging	Het
Fcrlb	A	T	1: 170,734,938 (GRCm39)	H396Q	probably benign	Het
Fcsk	A	G	8: 111,614,064 (GRCm39)	V693A	probably benign	Het
Fgd5	A	T	6: 92,046,447 (GRCm39)	K1397*	probably null	Het
Frem1	C	A	4: 82,831,785 (GRCm39)	L2010F	probably benign	Het
Fzd8	A	G	18: 9,214,661 (GRCm39)	Y581C	probably damaging	Het
Gcc2	T	C	10: 58,106,411 (GRCm39)	V549A	possibly damaging	Het
Gcnt4	G	A	13: 97,083,042 (GRCm39)	V113I	probably benign	Het
Gldn	A	G	9: 54,245,747 (GRCm39)	I433V	probably benign	Het
Gm3336	A	G	8: 71,173,069 (GRCm39)	D27G	unknown	Het
Gm6133	T	A	18: 78,393,146 (GRCm39)	Y47N	probably damaging	Het
Gm8257	A	T	14: 44,893,877 (GRCm39)	N62K	probably benign	Het
Gpr18	T	G	14: 122,149,667 (GRCm39)	R119S	probably damaging	Het
Grm5	A	T	7: 87,685,397 (GRCm39)	I505F	possibly damaging	Het
Hdgfl1	T	C	13: 26,953,428 (GRCm39)	E215G	probably benign	Het
Heg1	T	A	16: 33,527,339 (GRCm39)	C100S	probably benign	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Lrrc49	A	T	9: 60,495,150 (GRCm39)	C694S	probably benign	Het
Map7d1	A	T	4: 126,133,911 (GRCm39)	I217N	probably damaging	Het
Mbnl2	A	T	14: 120,562,712 (GRCm39)	Q21L	probably benign	Het
Mfsd10	A	T	5: 34,792,751 (GRCm39)	F220Y	probably benign	Het
Mmp1b	A	C	9: 7,387,909 (GRCm39)	N28K	probably null	Het
Muc16	A	T	9: 18,555,975 (GRCm39)	N3439K	unknown	Het
Myef2l	C	A	3: 10,157,341 (GRCm39)	Q495K	unknown	Het
Myo9a	A	T	9: 59,687,584 (GRCm39)	K230*	probably null	Het
Mysm1	T	C	4: 94,835,294 (GRCm39)	T790A	probably benign	Het
Nell2	C	T	15: 95,194,117 (GRCm39)	C532Y	probably damaging	Het
Nmnat1	T	A	4: 149,553,482 (GRCm39)	N210I	probably damaging	Het
Or14j7	T	G	17: 38,235,168 (GRCm39)	V237G	probably benign	Het
Or2aj6	A	T	16: 19,443,295 (GRCm39)	L185*	probably null	Het
Or4k41	T	C	2: 111,280,343 (GRCm39)	I286T	probably damaging	Het
Or7g16	G	A	9: 18,727,569 (GRCm39)	T7I	probably damaging	Het
Pabpc6	T	C	17: 9,888,281 (GRCm39)	D90G	probably damaging	Het
Pacs2	A	T	12: 113,026,104 (GRCm39)	I554F	possibly damaging	Het
Padi3	C	A	4: 140,523,004 (GRCm39)	V323L	probably benign	Het
Piezo1	G	A	8: 123,215,090 (GRCm39)	P1484L		Het
Pogk	A	G	1: 166,227,254 (GRCm39)	I299T	possibly damaging	Het
Ptprk	A	G	10: 28,461,928 (GRCm39)	I1164V	probably benign	Het
Raph1	A	G	1: 60,542,124 (GRCm39)	M278T	unknown	Het
Rasa3	T	A	8: 13,645,851 (GRCm39)	Q163L	probably benign	Het
Rbm6	T	A	9: 107,660,911 (GRCm39)	K884I	probably damaging	Het
Rtl1	A	G	12: 109,559,691 (GRCm39)	V716A	probably benign	Het
Sag	A	G	1: 87,749,054 (GRCm39)	K151R	probably damaging	Het
Scara5	G	A	14: 66,000,197 (GRCm39)	V456M	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc4a1	A	T	11: 102,243,279 (GRCm39)	V784D	probably damaging	Het
Sstr1	T	C	12: 58,259,569 (GRCm39)	I64T	possibly damaging	Het
Steap1	A	G	5: 5,790,708 (GRCm39)	I80T	probably benign	Het
Tbc1d24	T	A	17: 24,427,491 (GRCm39)	D157V	probably benign	Het
Thsd7a	T	C	6: 12,418,249 (GRCm39)	E660G		Het
Trappc3l	A	G	10: 33,932,786 (GRCm39)		probably benign	Het
Tsc22d2	T	C	3: 58,323,497 (GRCm39)	S130P	probably benign	Het
Tti2	T	A	8: 31,645,814 (GRCm39)	I376N	probably damaging	Het
Ttll2	C	A	17: 7,619,054 (GRCm39)	W291L	probably benign	Het
Ttll3	G	A	6: 113,376,657 (GRCm39)	V345I	possibly damaging	Het
Ttn	A	G	2: 76,565,046 (GRCm39)	Y28394H	probably damaging	Het
Usp45	A	G	4: 21,832,201 (GRCm39)	Y684C	probably damaging	Het
Vdr	A	G	15: 97,765,089 (GRCm39)	S217P	probably benign	Het
Xpot	A	G	10: 121,447,580 (GRCm39)	L105P	probably damaging	Het
Zan	A	G	5: 137,464,206 (GRCm39)	I533T	probably damaging	Het
Zbtb8a	T	C	4: 129,248,059 (GRCm39)	E404G	probably benign	Het
Zfp106	T	A	2: 120,369,906 (GRCm39)	I62F	probably damaging	Het
Zfp451	A	T	1: 33,815,562 (GRCm39)	F796Y	probably damaging	Het

Other mutations in Ccn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Ccn2	APN	10	24,472,307 (GRCm39)	missense	probably damaging	1.00
IGL02994:Ccn2	APN	10	24,472,763 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Ccn2	UTSW	10	24,471,988 (GRCm39)	missense	probably damaging	0.97
R0443:Ccn2	UTSW	10	24,471,701 (GRCm39)	splice site	probably benign
R0496:Ccn2	UTSW	10	24,473,413 (GRCm39)	missense	possibly damaging	0.51
R0538:Ccn2	UTSW	10	24,472,364 (GRCm39)	missense	probably damaging	1.00
R1599:Ccn2	UTSW	10	24,473,297 (GRCm39)	missense	probably benign	0.08
R1721:Ccn2	UTSW	10	24,472,695 (GRCm39)	missense	probably damaging	1.00
R2095:Ccn2	UTSW	10	24,472,377 (GRCm39)	missense	probably benign	0.41
R2230:Ccn2	UTSW	10	24,472,371 (GRCm39)	missense	possibly damaging	0.61
R2322:Ccn2	UTSW	10	24,472,732 (GRCm39)	missense	probably damaging	1.00
R4913:Ccn2	UTSW	10	24,473,225 (GRCm39)	missense	probably damaging	1.00
R5697:Ccn2	UTSW	10	24,473,354 (GRCm39)	missense	probably benign
R6705:Ccn2	UTSW	10	24,471,853 (GRCm39)	missense	probably damaging	0.99
R7067:Ccn2	UTSW	10	24,472,873 (GRCm39)	missense	probably benign	0.14
R7427:Ccn2	UTSW	10	24,473,397 (GRCm39)	missense	probably damaging	0.99
R8559:Ccn2	UTSW	10	24,471,966 (GRCm39)	frame shift	probably null
R9223:Ccn2	UTSW	10	24,471,856 (GRCm39)	missense	probably benign	0.37
R9375:Ccn2	UTSW	10	24,473,501 (GRCm39)	missense	possibly damaging	0.88
R9383:Ccn2	UTSW	10	24,471,883 (GRCm39)	missense	possibly damaging	0.94
R9727:Ccn2	UTSW	10	24,471,820 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAAGCTGCCTGGGAAATGC -3'
(R):5'- ATGTTTTCCTCCAGGTCAGC -3'

Sequencing Primer
(F):5'- CAAGGACCGCACAGCAGTTG -3'
(R):5'- TCCAGGTCAGCTTCGCAG -3'

Posted On

2021-11-19