Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4131001:Ccn2'

523231

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4131001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24471340-24474581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24471988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 70 (V70A)

Ref Sequence

ENSEMBL: ENSMUSP00000135212 (fasta)

Gene Model

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

AlphaFold

P29268

Predicted Effect

probably benign
Transcript: ENSMUST00000020171
AA Change: V93A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: V93A

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

noncoding transcript
Transcript: ENSMUST00000125158

Predicted Effect

probably damaging
Transcript: ENSMUST00000129142
AA Change: V70A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997
AA Change: V70A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141076

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176228
AA Change: V93A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: V93A

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (126/137)

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,561,599 (GRCm39)		probably benign	Het
Alpk2	G	A	18: 65,439,450 (GRCm39)	H648Y	possibly damaging	Het
Ambp	A	G	4: 63,062,502 (GRCm39)	Y246H	probably damaging	Het
Amz1	T	C	5: 140,735,088 (GRCm39)		probably null	Het
Anks6	G	A	4: 47,027,109 (GRCm39)	T703I	probably damaging	Het
Armc2	A	G	10: 41,823,883 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,484,672 (GRCm39)	I1347F	probably damaging	Het
Atp8a1	C	T	5: 67,779,945 (GRCm39)	W1149*	probably null	Het
Auh	A	G	13: 52,995,046 (GRCm39)	I173T	probably damaging	Het
Axin2	T	C	11: 108,814,829 (GRCm39)	L239P	possibly damaging	Het
Bbs1	A	T	19: 4,949,287 (GRCm39)	F257L	possibly damaging	Het
Cacna2d2	C	T	9: 107,401,867 (GRCm39)	P774L	probably damaging	Het
Card6	A	G	15: 5,137,788 (GRCm39)	L22P	probably damaging	Het
Ccdc171	C	T	4: 83,579,946 (GRCm39)			Het
Cdc14a	T	A	3: 116,122,310 (GRCm39)	N219I	possibly damaging	Het
Cfap65	G	T	1: 74,967,501 (GRCm39)	N192K	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Col6a5	T	C	9: 105,759,113 (GRCm39)	N2031S	probably damaging	Het
Col7a1	T	C	9: 108,794,989 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,473,543 (GRCm39)	S739P	probably damaging	Het
Dbr1	A	G	9: 99,466,072 (GRCm39)		probably null	Het
Dip2b	T	C	15: 100,100,233 (GRCm39)	L1267P	probably damaging	Het
Dolk	A	G	2: 30,175,586 (GRCm39)	M153T	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eef1d	C	T	15: 75,775,581 (GRCm39)	R26H	probably benign	Homo
Efcab5	C	T	11: 77,028,517 (GRCm39)			Het
Epc1	T	C	18: 6,449,246 (GRCm39)	D467G	probably damaging	Het
Fancm	T	G	12: 65,152,196 (GRCm39)	M884R	probably benign	Het
Fbxo24	G	T	5: 137,620,164 (GRCm39)	H15N	probably damaging	Het
Frem1	A	G	4: 82,924,045 (GRCm39)	F305L	probably damaging	Het
Fstl5	A	G	3: 76,567,006 (GRCm39)	D550G	probably damaging	Het
Gcnt3	T	G	9: 69,941,326 (GRCm39)	K414T	possibly damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	A	G,C	9: 3,001,414 (GRCm39)		probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Homo
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Homo
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Homo
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hmgcr	A	G	13: 96,795,562 (GRCm39)	Y336H	probably damaging	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Homo
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Homo
Igf2bp3	A	C	6: 49,094,084 (GRCm39)		probably null	Het
Kcnb2	A	T	1: 15,383,200 (GRCm39)	K175N	possibly damaging	Het
Kdr	T	C	5: 76,102,631 (GRCm39)		probably benign	Het
Kif5c	A	G	2: 49,584,044 (GRCm39)	K160E	probably damaging	Het
Kif7	A	T	7: 79,360,817 (GRCm39)	V186E	probably damaging	Het
Krt16	T	A	11: 100,139,575 (GRCm39)	T48S	unknown	Het
Liph	T	C	16: 21,814,119 (GRCm39)	M1V	probably null	Het
Mctp2	A	G	7: 71,740,005 (GRCm39)	F795S	probably damaging	Het
Muc4	T	A	16: 32,755,699 (GRCm38)		probably benign	Homo
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Homo
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Homo
Myo15a	G	T	11: 60,373,953 (GRCm39)	A1267S	probably damaging	Het
Myo15a	T	C	11: 60,386,280 (GRCm39)	Y1802H	probably damaging	Het
Myo7b	G	A	18: 32,094,259 (GRCm39)	T1963I	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Homo
Naip5	T	C	13: 100,356,268 (GRCm39)	N1116D	probably benign	Het
Naip5	T	C	13: 100,356,247 (GRCm39)	R1123G	probably benign	Het
Nap1l1	A	G	10: 111,322,583 (GRCm39)	D61G	probably null	Het
Napsa	A	T	7: 44,230,875 (GRCm39)	T81S	probably damaging	Het
Ngp	T	C	9: 110,251,337 (GRCm39)		probably benign	Het
Nktr	T	A	9: 121,570,687 (GRCm39)	V143E	probably damaging	Het
Obscn	A	G	11: 58,957,890 (GRCm39)		probably null	Het
Or10ag53	G	A	2: 87,082,973 (GRCm39)	A231T	probably benign	Het
Or11i1	T	C	3: 106,729,282 (GRCm39)	I198V	probably benign	Het
Or4f56	G	A	2: 111,703,649 (GRCm39)	L184F	probably benign	Het
Or52ab2	C	T	7: 102,970,076 (GRCm39)	R153*	probably null	Het
Or52d3	G	A	7: 104,229,237 (GRCm39)	R128Q	probably damaging	Het
Or6p1	A	G	1: 174,258,390 (GRCm39)	Y132C	probably damaging	Het
Paip2b	A	G	6: 83,785,823 (GRCm39)	Y136H	probably damaging	Het
Pde2a	G	T	7: 101,160,361 (GRCm39)	R845L	probably damaging	Het
Pgap2	A	G	7: 101,886,405 (GRCm39)	Y197C	possibly damaging	Het
Phf11b	A	G	14: 59,560,611 (GRCm39)		probably benign	Het
Pitpnm2	A	T	5: 124,269,178 (GRCm39)	D481E	probably benign	Het
Pxk	A	T	14: 8,152,130 (GRCm38)	H482L	probably benign	Het
Rad50	A	G	11: 53,585,726 (GRCm39)		probably null	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rbmyf5	T	C	Y: 3,297,411 (GRCm39)	H235R	probably benign	Het
Rbmyf6	C	T	Y: 3,328,944 (GRCm39)	A241T	possibly damaging	Het
Rnf220	A	G	4: 117,134,566 (GRCm39)		probably null	Het
Saxo5	T	A	8: 3,526,062 (GRCm39)	S72T	possibly damaging	Het
Selenbp1	C	T	3: 94,844,607 (GRCm39)	T88M	probably damaging	Het
Sft2d1	T	C	17: 8,609,863 (GRCm39)	I104T	possibly damaging	Het
Sik1	A	G	17: 32,070,305 (GRCm39)	S135P	probably damaging	Het
Slc16a3	T	C	11: 120,846,172 (GRCm39)	F34L	probably damaging	Het
Slc6a20b	T	C	9: 123,612,126 (GRCm38)	N85S	probably benign	Homo
Snrnp27	T	C	6: 86,659,893 (GRCm39)	R34G	unknown	Het
Sos2	T	C	12: 69,664,851 (GRCm39)	H393R	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Ssrp1	G	A	2: 84,868,760 (GRCm39)	V40M	probably damaging	Het
Tada2a	T	C	11: 83,970,563 (GRCm39)	E202G	probably damaging	Het
Tcf20	C	A	15: 82,735,785 (GRCm39)	A1889S	probably damaging	Het
Tdrd12	A	T	7: 35,180,528 (GRCm39)	Y828*	probably null	Het
Tlr2	T	A	3: 83,745,756 (GRCm39)	D109V	probably benign	Het
Tomm40	G	A	7: 19,437,016 (GRCm39)	T17M	probably damaging	Het
Tsga10ip	T	C	19: 5,440,161 (GRCm39)	T135A	possibly damaging	Het
Tspan8	G	A	10: 115,653,515 (GRCm39)	V4M	probably damaging	Het
Ttc28	A	T	5: 111,040,719 (GRCm39)	T36S	probably benign	Het
Ugt1a6b	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Ugt1a6b	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Ugt1a6b	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc45a	A	G	7: 79,976,109 (GRCm39)	M790T	possibly damaging	Het
Vav3	T	C	3: 109,571,751 (GRCm39)		probably null	Het
Vcpkmt	G	A	12: 69,629,552 (GRCm39)	S70L	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn2r66	T	C	7: 84,644,301 (GRCm39)	Q703R	probably damaging	Het
Vmn2r98	G	T	17: 19,301,223 (GRCm39)	V742F	probably benign	Het
Wfdc8	A	G	2: 164,439,696 (GRCm39)	S229P	possibly damaging	Het
Xpo4	A	T	14: 57,822,068 (GRCm39)	C1083S	probably null	Het
Zbtb38	T	C	9: 96,568,369 (GRCm39)	D905G	probably damaging	Het
Zbtb8b	A	G	4: 129,321,308 (GRCm39)	*518Q	probably null	Het
Zfp600	TC	T	4: 146,131,802 (GRCm39)		probably null	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	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
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
R9036:Ccn2	UTSW	10	24,472,647 (GRCm39)	missense	probably benign	0.01
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'- AGCTGCGATCACAGACTGAC -3'
(R):5'- GCTATATCACTGTACATGTCAAGGTG -3'

Sequencing Primer
(F):5'- AGCGCGCAATGTCAGTG -3'
(R):5'- TCAAGGTGACGAGCTAGGGTC -3'

Posted On

2018-06-12