Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03237:Ccm2l'

414115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccm2l

Ensembl Gene

ENSMUSG00000027474

Gene Name

cerebral cavernous malformation 2-like

Synonyms

BC020535

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03237

Quality Score

Status

Chromosome

Chromosomal Location

152907875-152923655 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 152907922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109800] [ENSMUST00000129377]

AlphaFold

Q8VCC6

Predicted Effect

probably benign
Transcript: ENSMUST00000109800

SMART Domains

Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474

Domain	Start	End	E-Value	Type
Blast:PTB	60	160	9e-16	BLAST
low complexity region	163	184	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
internal_repeat_1	236	251	1.67e-6	PROSPERO
low complexity region	252	261	N/A	INTRINSIC
internal_repeat_1	262	280	1.67e-6	PROSPERO
low complexity region	372	389	N/A	INTRINSIC
low complexity region	465	481	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127898

Predicted Effect

probably benign
Transcript: ENSMUST00000129377

SMART Domains

Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474

Domain	Start	End	E-Value	Type
Blast:PTB	60	136	7e-9	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele exhibit delayed wound healing and show impaired tumor growth, poor tumor vascularization, and decreased metastatic potential following injection of Lewis Lung Carcinoma (LLC) cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,929,388 (GRCm39)	Y405C	probably benign	Het
Adam19	A	G	11: 46,028,383 (GRCm39)	K672R	probably benign	Het
Adamts7	C	A	9: 90,070,717 (GRCm39)	P613T	probably damaging	Het
Adgrl1	G	T	8: 84,656,312 (GRCm39)		probably null	Het
Adrb1	A	T	19: 56,711,800 (GRCm39)	N333Y	probably damaging	Het
Aqp7	C	T	4: 41,034,884 (GRCm39)	V190M	possibly damaging	Het
Atg101	T	C	15: 101,185,054 (GRCm39)	F59L	probably damaging	Het
Capn12	T	C	7: 28,590,366 (GRCm39)	S638P	probably damaging	Het
Cdc14a	A	T	3: 116,198,275 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,066,037 (GRCm39)	K770N	possibly damaging	Het
Clxn	A	G	16: 14,738,652 (GRCm39)	D161G	probably damaging	Het
Col23a1	A	C	11: 51,458,746 (GRCm39)	E294D	possibly damaging	Het
Cped1	A	T	6: 22,233,595 (GRCm39)	Y679F	probably damaging	Het
Ctu2	A	G	8: 123,205,792 (GRCm39)	E180G	probably benign	Het
Cyp11b2	C	T	15: 74,722,914 (GRCm39)	V495I	probably benign	Het
Ecpas	A	T	4: 58,810,668 (GRCm39)	M1563K	probably benign	Het
Gabrg3	A	T	7: 56,632,460 (GRCm39)		probably null	Het
Hsd17b11	A	G	5: 104,151,036 (GRCm39)	*233Q	probably null	Het
Klhl41	T	C	2: 69,500,902 (GRCm39)	V121A	possibly damaging	Het
Kptn	A	T	7: 15,854,050 (GRCm39)	D56V	probably damaging	Het
L3mbtl4	T	A	17: 69,084,856 (GRCm39)	I589N	probably damaging	Het
Lpl	A	T	8: 69,347,378 (GRCm39)	N177Y	possibly damaging	Het
Manba	G	A	3: 135,250,512 (GRCm39)	V380M	probably damaging	Het
Mecom	A	T	3: 30,010,648 (GRCm39)		probably benign	Het
Mertk	A	G	2: 128,632,192 (GRCm39)	E707G	probably damaging	Het
Myo5a	A	T	9: 75,037,276 (GRCm39)	I160F	probably damaging	Het
Myo7a	A	T	7: 97,751,800 (GRCm39)	I81N	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipal1	C	T	5: 72,824,150 (GRCm39)	R76C	probably damaging	Het
Noc3l	C	T	19: 38,803,125 (GRCm39)		probably null	Het
Nt5e	A	G	9: 88,237,787 (GRCm39)	D239G	probably damaging	Het
Olr1	A	C	6: 129,479,117 (GRCm39)	W34G	probably damaging	Het
Plekhf1	A	T	7: 37,920,799 (GRCm39)	N256K	probably benign	Het
Psen2	T	C	1: 180,068,414 (GRCm39)	T80A	possibly damaging	Het
Psg27	A	G	7: 18,294,417 (GRCm39)	I330T	probably benign	Het
Ranbp2	T	C	10: 58,328,783 (GRCm39)	V2894A	probably damaging	Het
Sgcz	A	T	8: 38,030,332 (GRCm39)	D170E	probably benign	Het
Snrnp200	C	T	2: 127,075,233 (GRCm39)	A1573V	probably damaging	Het
Steap3	C	T	1: 120,171,520 (GRCm39)	G195D	probably damaging	Het
Tmem165	T	A	5: 76,347,356 (GRCm39)	Y5*	probably null	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vmn2r67	A	T	7: 84,799,118 (GRCm39)	C530S	probably damaging	Het
Wdfy3	T	A	5: 101,992,465 (GRCm39)	D3389V	probably damaging	Het
Zfp128	A	C	7: 12,624,953 (GRCm39)	E440D	probably benign	Het

Other mutations in Ccm2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Ccm2l	APN	2	152,922,821 (GRCm39)	splice site	probably benign
IGL01826:Ccm2l	APN	2	152,909,853 (GRCm39)	splice site	probably benign
IGL02821:Ccm2l	APN	2	152,909,779 (GRCm39)	missense	probably damaging	1.00
IGL02961:Ccm2l	APN	2	152,920,521 (GRCm39)	missense	probably benign	0.03
R0103:Ccm2l	UTSW	2	152,909,839 (GRCm39)	nonsense	probably null
R0103:Ccm2l	UTSW	2	152,909,839 (GRCm39)	nonsense	probably null
R0420:Ccm2l	UTSW	2	152,912,782 (GRCm39)	missense	probably null	0.08
R0617:Ccm2l	UTSW	2	152,912,820 (GRCm39)	missense	probably damaging	0.99
R0760:Ccm2l	UTSW	2	152,914,104 (GRCm39)	missense	probably damaging	0.99
R1309:Ccm2l	UTSW	2	152,912,844 (GRCm39)	missense	probably damaging	0.97
R4787:Ccm2l	UTSW	2	152,921,422 (GRCm39)	missense	probably benign	0.00
R7106:Ccm2l	UTSW	2	152,912,571 (GRCm39)	missense	possibly damaging	0.45
R7159:Ccm2l	UTSW	2	152,912,787 (GRCm39)	missense	probably damaging	1.00
R8141:Ccm2l	UTSW	2	152,912,791 (GRCm39)	missense	probably damaging	1.00
R8751:Ccm2l	UTSW	2	152,909,695 (GRCm39)	missense	probably benign	0.43
R8852:Ccm2l	UTSW	2	152,916,788 (GRCm39)	missense	probably damaging	1.00
R8971:Ccm2l	UTSW	2	152,909,756 (GRCm39)	missense	probably damaging	1.00
R9046:Ccm2l	UTSW	2	152,916,720 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02