Mutagenetix > Incidental Mutation

Incidental Mutation 'R1989:Ccn1'

222970

Institutional Source

Beutler Lab

Gene Symbol

Ccn1

Ensembl Gene

ENSMUSG00000028195

Gene Name

cellular communication network factor 1

Synonyms

Cyr61, CCN1

MMRRC Submission

040001-MU

Accession Numbers

Essential gene?

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

Stock #

R1989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145352731-145355736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145353498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 355 (Y355N)

Ref Sequence

ENSEMBL: ENSMUSP00000029846 (fasta)

Gene Model

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

AlphaFold

P18406

Predicted Effect

probably benign
Transcript: ENSMUST00000029846
AA Change: Y355N

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: Y355N

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
Acaca	T	C	11: 84,153,355 (GRCm39)	M921T	probably damaging	Het
Actn2	A	T	13: 12,355,276 (GRCm39)	W36R	probably benign	Het
Adcy9	A	T	16: 4,116,591 (GRCm39)	V643D	probably damaging	Het
Agbl4	A	T	4: 111,423,879 (GRCm39)	T302S	possibly damaging	Het
Akap13	A	G	7: 75,354,264 (GRCm39)	N1795S	probably benign	Het
Ang	T	A	14: 51,339,008 (GRCm39)	C50S	probably damaging	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Asxl3	T	C	18: 22,585,420 (GRCm39)	V115A	probably damaging	Het
B4galt5	A	T	2: 167,146,923 (GRCm39)	W304R	probably damaging	Het
Bptf	T	C	11: 106,965,652 (GRCm39)	K1118E	probably damaging	Het
Cacna1b	T	C	2: 24,611,386 (GRCm39)	Y335C	probably damaging	Het
Catsperb	A	T	12: 101,568,970 (GRCm39)	I881F	probably damaging	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Cyp2f2	A	G	7: 26,828,628 (GRCm39)	D90G	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
E2f8	T	C	7: 48,523,028 (GRCm39)	E349G	probably benign	Het
Ebf1	T	C	11: 44,512,793 (GRCm39)	M134T	probably damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Focad	T	C	4: 88,151,021 (GRCm39)		probably null	Het
Gabra1	A	T	11: 42,045,842 (GRCm39)	D89E	probably damaging	Het
Hip1r	G	T	5: 124,127,761 (GRCm39)	V90F	probably damaging	Het
Ifi213	C	A	1: 173,396,374 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,716 (GRCm39)	I136T	probably benign	Het
Kmt2c	A	G	5: 25,703,542 (GRCm39)	S3P	possibly damaging	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,931,432 (GRCm39)	S43L	probably damaging	Het
Macf1	A	G	4: 123,391,519 (GRCm39)		probably null	Het
Mad1l1	A	G	5: 140,289,425 (GRCm39)	S167P	probably benign	Het
Maml3	G	T	3: 51,605,179 (GRCm39)	A64D	probably damaging	Het
Mgat4c	T	C	10: 102,214,020 (GRCm39)	M1T	probably null	Het
Mkrn2os	G	T	6: 115,566,311 (GRCm39)	T88K	probably damaging	Het
Mob3c	T	C	4: 115,688,754 (GRCm39)	Y96H	probably damaging	Het
Mpo	T	A	11: 87,694,298 (GRCm39)	I96N	probably damaging	Het
Mup17	T	A	4: 61,511,860 (GRCm39)	Y138F	probably benign	Het
Myh8	A	G	11: 67,183,550 (GRCm39)	I754V	probably benign	Het
Naa30	T	A	14: 49,415,597 (GRCm39)	L289*	probably null	Het
Nap1l4	A	C	7: 143,080,921 (GRCm39)	F292V	probably damaging	Het
Nek5	T	A	8: 22,601,185 (GRCm39)	N129Y	probably damaging	Het
Nlrp9a	A	G	7: 26,273,338 (GRCm39)	E880G	probably benign	Het
Nsun6	G	T	2: 15,042,995 (GRCm39)	N155K	probably benign	Het
Or2aj5	A	T	16: 19,425,407 (GRCm39)	Y4N	probably benign	Het
Or4c102	T	A	2: 88,422,943 (GRCm39)	I265K	probably damaging	Het
Or4f62	T	A	2: 111,986,722 (GRCm39)	I142N	probably benign	Het
Or52a33	A	T	7: 103,288,702 (GRCm39)	I215K	probably damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8d23	T	C	9: 38,842,171 (GRCm39)	S235P	possibly damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Ppp2r5d	C	T	17: 46,995,025 (GRCm39)	V559M	probably benign	Het
Ptgfr	A	T	3: 151,540,976 (GRCm39)	Y177*	probably null	Het
Rnase10	A	T	14: 51,247,095 (GRCm39)	I121L	probably benign	Het
Sall2	G	A	14: 52,551,896 (GRCm39)	P431L	probably damaging	Het
Sbf2	A	G	7: 109,948,130 (GRCm39)	V1194A	possibly damaging	Het
Scimp	T	C	11: 70,682,402 (GRCm39)	K105E	possibly damaging	Het
Scrt2	A	T	2: 151,924,007 (GRCm39)	D13V	probably damaging	Het
Snx19	A	G	9: 30,339,404 (GRCm39)	S181G	possibly damaging	Het
Spata2	G	A	2: 167,326,234 (GRCm39)	T195M	possibly damaging	Het
Sptbn4	A	G	7: 27,067,127 (GRCm39)	V614A	probably damaging	Het
Srpk2	G	A	5: 23,723,421 (GRCm39)	A565V	probably damaging	Het
Stard9	A	G	2: 120,531,887 (GRCm39)	I2715V	probably benign	Het
Sval1	A	G	6: 41,932,425 (GRCm39)	T92A	possibly damaging	Het
Synrg	T	C	11: 83,910,781 (GRCm39)		probably null	Het
Tlr12	T	C	4: 128,510,862 (GRCm39)	T463A	probably benign	Het
Tnxb	A	G	17: 34,902,351 (GRCm39)	H945R	probably benign	Het
Tnxb	A	T	17: 34,912,859 (GRCm39)	D1791V	probably damaging	Het
Topaz1	C	T	9: 122,579,190 (GRCm39)	T700I	possibly damaging	Het
Trappc8	A	G	18: 20,978,708 (GRCm39)	V796A	probably benign	Het
Trpm1	A	T	7: 63,858,780 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ttn	T	A	2: 76,581,285 (GRCm39)	N23203Y	probably damaging	Het
Ttn	A	T	2: 76,601,131 (GRCm39)	Y18781N	probably damaging	Het
Tuba3a	T	C	6: 125,258,216 (GRCm39)	N258S	probably damaging	Het
Upk1b	A	T	16: 38,604,603 (GRCm39)	W141R	possibly damaging	Het
Vars1	T	C	17: 35,230,814 (GRCm39)	F567L	possibly damaging	Het
Vcpip1	G	C	1: 9,815,788 (GRCm39)	A865G	probably benign	Het
Vmn2r22	A	T	6: 123,614,500 (GRCm39)	F363L	probably damaging	Het
Vmn2r66	A	T	7: 84,661,201 (GRCm39)	F10I	probably benign	Het
Wbp2	C	T	11: 115,971,047 (GRCm39)		probably null	Het
Yy1	T	C	12: 108,772,534 (GRCm39)	L270P	probably damaging	Het
Zan	A	T	5: 137,418,268 (GRCm39)	C2943*	probably null	Het
Zfp51	T	A	17: 21,676,582 (GRCm39)	Y18N	possibly damaging	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
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
R5792:Ccn1	UTSW	3	145,354,413 (GRCm39)	missense	probably benign
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'- GAGCAAGGCACCATTCATCC -3'
(R):5'- TTCTTCCAGAAGGGCAAGAAATG -3'

Sequencing Primer
(F):5'- AGGCACCATTCATCCTCCGC -3'
(R):5'- CAGATTTACTTATGCAGGATGCTCC -3'

Posted On

2014-08-25