Mutagenetix > Incidental Mutation

Incidental Mutation 'R5792:Ccn1'

447011

Institutional Source

Beutler Lab

Gene Symbol

Ccn1

Ensembl Gene

ENSMUSG00000028195

Gene Name

cellular communication network factor 1

Synonyms

Cyr61, CCN1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R5792 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145352731-145355736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145354413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 166 (D166G)

Ref Sequence

ENSEMBL: ENSMUSP00000029846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029846]

AlphaFold

P18406

Predicted Effect

probably benign
Transcript: ENSMUST00000029846
AA Change: D166G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: D166G

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
IB	24	93	1.16e-24	SMART
VWC	100	163	9.94e-23	SMART
low complexity region	164	184	N/A	INTRINSIC
TSP1	229	271	1.34e-5	SMART
CT	289	358	3.74e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197148

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (56/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]
PHENOTYPE: Targeted null mice die pre- or perinatally, and none survive beyond 24 hrs of birth. About 30% of embryos die by E10.5 from defects in chorioallantoic fusion, whereas 70% die from placental vascular defects, including impaired allantoic vessel bifurcation, and loss of large-vessel integrity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,945 (GRCm39)	I296F	possibly damaging	Het
Adamts19	C	T	18: 58,970,584 (GRCm39)	T56M	possibly damaging	Het
Axdnd1	T	G	1: 156,169,459 (GRCm39)	E802D	probably damaging	Het
Birc6	T	C	17: 74,938,048 (GRCm39)	V2630A	probably benign	Het
Capn5	A	T	7: 97,780,402 (GRCm39)	F323I	probably benign	Het
Cdc25b	A	G	2: 131,033,679 (GRCm39)	E206G	probably damaging	Het
Cmah	T	G	13: 24,640,898 (GRCm39)	N382K	probably benign	Het
Col11a1	A	T	3: 113,925,242 (GRCm39)	D25V	probably damaging	Het
Cyp2d41-ps	G	T	15: 82,663,421 (GRCm39)		noncoding transcript	Het
Cyp3a59	A	G	5: 146,036,661 (GRCm39)	K288E	possibly damaging	Het
Dclre1a	A	C	19: 56,518,022 (GRCm39)	I1019S	probably damaging	Het
Fat2	G	T	11: 55,153,151 (GRCm39)	A3687D	possibly damaging	Het
Flg2	T	A	3: 93,110,804 (GRCm39)	V944E	unknown	Het
Galntl5	T	C	5: 25,403,461 (GRCm39)	V177A	possibly damaging	Het
Gm12695	T	C	4: 96,616,520 (GRCm39)	T438A	probably benign	Het
Gm14295	A	T	2: 176,502,807 (GRCm39)	N766Y	probably benign	Het
Gm15433	T	A	1: 84,941,833 (GRCm39)		noncoding transcript	Het
Gm2431	C	T	7: 141,812,069 (GRCm39)	G8E	unknown	Het
Gm5435	T	A	12: 82,542,200 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grip1	T	C	10: 119,821,385 (GRCm39)	I350T	probably benign	Het
Guf1	T	A	5: 69,717,829 (GRCm39)	F196I	probably damaging	Het
Kcng4	G	T	8: 120,353,018 (GRCm39)	D297E	probably damaging	Het
Khdrbs2	G	A	1: 32,511,773 (GRCm39)	R246Q	probably damaging	Het
Layn	T	C	9: 50,979,461 (GRCm39)	E148G	probably damaging	Het
Lrig3	T	A	10: 125,845,788 (GRCm39)	V739E	probably damaging	Het
Lyg1	A	G	1: 37,986,348 (GRCm39)	W129R	probably benign	Het
Nup210l	C	T	3: 90,107,164 (GRCm39)	T1567I	probably damaging	Het
Nus1	T	A	10: 52,305,352 (GRCm39)	L12*	probably null	Het
Odad2	T	C	18: 7,217,965 (GRCm39)	N583S	probably benign	Het
Or1n2	A	G	2: 36,797,113 (GRCm39)	I52V	probably benign	Het
Or6a2	A	T	7: 106,600,650 (GRCm39)	V139D	possibly damaging	Het
Otop1	A	G	5: 38,455,260 (GRCm39)	N218S	probably benign	Het
Pcif1	T	A	2: 164,727,299 (GRCm39)	N90K	probably damaging	Het
Phf2	T	C	13: 48,973,518 (GRCm39)		probably null	Het
Piezo2	T	A	18: 63,279,927 (GRCm39)	I215F	probably damaging	Het
Pitpnm2	G	T	5: 124,268,384 (GRCm39)	C553*	probably null	Het
Prdm1	A	G	10: 44,326,224 (GRCm39)	V115A	probably damaging	Het
Prkdc	A	G	16: 15,634,616 (GRCm39)	D3587G	probably damaging	Het
Sez6l	A	T	5: 112,569,890 (GRCm39)	Y883*	probably null	Het
Sh3rf2	A	C	18: 42,244,203 (GRCm39)	H223P	probably damaging	Het
Slco1a5	C	T	6: 142,187,839 (GRCm39)	C500Y	probably damaging	Het
Slf1	T	A	13: 77,214,856 (GRCm39)	H610L	probably benign	Het
Syn3	T	C	10: 86,130,492 (GRCm39)	*244W	probably null	Het
Sytl2	A	T	7: 90,024,897 (GRCm39)	D295V	probably damaging	Het
Tnfrsf1a	T	A	6: 125,335,040 (GRCm39)	C44S	probably damaging	Het
Ttc6	T	G	12: 57,719,990 (GRCm39)	L854V	possibly damaging	Het
Ttn	T	C	2: 76,596,602 (GRCm39)	I18358V	probably benign	Het
Vmn2r108	A	G	17: 20,683,398 (GRCm39)	V602A	probably damaging	Het
Zap70	A	G	1: 36,818,090 (GRCm39)		probably benign	Het
Zfhx2	T	C	14: 55,304,303 (GRCm39)	E1227G	possibly damaging	Het
Znhit3	G	A	11: 84,806,910 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,442,236 (GRCm39)		probably benign	Het

Other mutations in Ccn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Ccn1	APN	3	145,354,365 (GRCm39)	missense	probably damaging	0.96
IGL02500:Ccn1	APN	3	145,354,455 (GRCm39)	missense	probably damaging	1.00
IGL02963:Ccn1	APN	3	145,353,630 (GRCm39)	missense	probably damaging	1.00
IGL03170:Ccn1	APN	3	145,355,514 (GRCm39)	missense	probably benign	0.01
R0018:Ccn1	UTSW	3	145,355,186 (GRCm39)	missense	probably damaging	0.99
R0846:Ccn1	UTSW	3	145,353,525 (GRCm39)	missense	possibly damaging	0.94
R0964:Ccn1	UTSW	3	145,353,503 (GRCm39)	missense	probably damaging	1.00
R1234:Ccn1	UTSW	3	145,355,594 (GRCm39)	start gained	probably benign
R1968:Ccn1	UTSW	3	145,353,965 (GRCm39)	missense	probably damaging	0.99
R1989:Ccn1	UTSW	3	145,353,498 (GRCm39)	missense	probably benign	0.31
R2071:Ccn1	UTSW	3	145,354,428 (GRCm39)	nonsense	probably null
R5622:Ccn1	UTSW	3	145,355,075 (GRCm39)	missense	probably damaging	1.00
R5639:Ccn1	UTSW	3	145,354,452 (GRCm39)	missense	probably damaging	1.00
R5734:Ccn1	UTSW	3	145,354,023 (GRCm39)	missense	probably damaging	1.00
R6129:Ccn1	UTSW	3	145,354,986 (GRCm39)	missense	possibly damaging	0.85
R6689:Ccn1	UTSW	3	145,353,543 (GRCm39)	missense	probably benign
R7131:Ccn1	UTSW	3	145,354,536 (GRCm39)	missense	probably damaging	1.00
R7289:Ccn1	UTSW	3	145,354,428 (GRCm39)	nonsense	probably null
R7699:Ccn1	UTSW	3	145,354,447 (GRCm39)	missense	probably damaging	1.00
R7700:Ccn1	UTSW	3	145,354,447 (GRCm39)	missense	probably damaging	1.00
R8722:Ccn1	UTSW	3	145,354,584 (GRCm39)	missense	probably damaging	1.00
R8859:Ccn1	UTSW	3	145,354,380 (GRCm39)	missense	probably benign
R9651:Ccn1	UTSW	3	145,354,583 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccn1	UTSW	3	145,354,410 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTTCTTAGATGCTTGCATAC -3'
(R):5'- ACCAAAACGGGGAAAGCTTC -3'

Sequencing Primer
(F):5'- CTTAGATGCTTGCATACACACACTGG -3'
(R):5'- GAAAGCTTCCAGCCCAACTG -3'

Posted On

2016-12-15