Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02961:Ccm2l'

365357

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 #

IGL02961

Quality Score

Status

Chromosome

Chromosomal Location

152907875-152923655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152920521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 393 (T393A)

Ref Sequence

ENSEMBL: ENSMUSP00000105425 (fasta)

Gene Model

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

AlphaFold

Q8VCC6

Predicted Effect

probably benign
Transcript: ENSMUST00000109800
AA Change: T393A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: T393A

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: ENSMUST00000127898

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,671,731 (GRCm39)	V2288A	probably damaging	Het
Agbl4	T	A	4: 110,437,318 (GRCm39)	N76K	probably damaging	Het
AI182371	A	T	2: 34,976,124 (GRCm39)	V258E	possibly damaging	Het
Alg1	T	A	16: 5,052,861 (GRCm39)	N80K	probably benign	Het
Ambra1	A	G	2: 91,741,793 (GRCm39)	M963V	possibly damaging	Het
Avil	C	A	10: 126,844,175 (GRCm39)	Q245K	probably benign	Het
Caml	A	G	13: 55,779,695 (GRCm39)	N256S	probably benign	Het
Ccdc102a	A	C	8: 95,629,978 (GRCm39)	I521S	possibly damaging	Het
Cdh16	A	G	8: 105,341,837 (GRCm39)	V91A	probably damaging	Het
Chd7	A	G	4: 8,751,542 (GRCm39)	D13G	probably damaging	Het
Chsy1	T	A	7: 65,821,530 (GRCm39)	D588E	probably benign	Het
Cilp	T	A	9: 65,185,891 (GRCm39)	V662E	possibly damaging	Het
Cog8	A	G	8: 107,782,885 (GRCm39)		probably benign	Het
Cpb2	T	C	14: 75,502,823 (GRCm39)	V134A	probably benign	Het
Ctcfl	T	A	2: 172,943,712 (GRCm39)	H546L	possibly damaging	Het
Dclre1c	A	G	2: 3,438,070 (GRCm39)	D136G	probably damaging	Het
Dnah2	T	A	11: 69,409,240 (GRCm39)	E379D	probably damaging	Het
Extl3	A	G	14: 65,294,408 (GRCm39)	Y808H	possibly damaging	Het
Gm7247	T	A	14: 51,602,812 (GRCm39)	N49K	probably damaging	Het
Insr	T	C	8: 3,308,785 (GRCm39)	I84V	probably benign	Het
Ipo7	C	T	7: 109,646,223 (GRCm39)	P541S	probably benign	Het
Kcnc3	T	C	7: 44,240,916 (GRCm39)	S203P	probably damaging	Het
Myo5a	A	G	9: 75,122,402 (GRCm39)	D1732G	probably benign	Het
Or10q3	T	A	19: 11,847,695 (GRCm39)	N295I	probably damaging	Het
Or52d1	C	A	7: 103,756,357 (GRCm39)	Y290*	probably null	Het
Or5p68	T	C	7: 107,945,334 (GRCm39)	I285V	probably benign	Het
Or5w22	A	G	2: 87,363,028 (GRCm39)	Y217C	probably damaging	Het
Or6x1	T	C	9: 40,098,897 (GRCm39)	V162A	probably benign	Het
Pde3a	T	A	6: 141,405,426 (GRCm39)	L426*	probably null	Het
Pkd1	T	A	17: 24,797,089 (GRCm39)	D8E	possibly damaging	Het
Polr3a	A	T	14: 24,517,108 (GRCm39)	Y714*	probably null	Het
Pramel16	T	C	4: 143,675,717 (GRCm39)	T370A	probably damaging	Het
Prb1c	A	T	6: 132,338,371 (GRCm39)	F282L	unknown	Het
Rasgrf1	T	C	9: 89,863,702 (GRCm39)	V556A	possibly damaging	Het
Rev3l	T	C	10: 39,703,941 (GRCm39)	Y1996H	possibly damaging	Het
Rttn	T	C	18: 89,071,697 (GRCm39)	L1248P	probably damaging	Het
Slc11a1	T	C	1: 74,416,332 (GRCm39)	L53P	probably damaging	Het
Slc22a27	T	C	19: 7,903,886 (GRCm39)	R84G	probably damaging	Het
Sptbn4	A	G	7: 27,097,392 (GRCm39)	L1302P	probably damaging	Het
Srm	T	C	4: 148,678,586 (GRCm39)	V271A	possibly damaging	Het
Sycp2	A	G	2: 178,022,655 (GRCm39)	I492T	probably benign	Het
Tmprss13	A	G	9: 45,256,301 (GRCm39)	T472A	probably damaging	Het
Togaram1	A	G	12: 65,013,484 (GRCm39)	D245G	probably damaging	Het
Vmn1r184	A	T	7: 25,967,075 (GRCm39)	I274L	probably benign	Het
Vmn1r21	T	C	6: 57,820,974 (GRCm39)	M157V	probably benign	Het
Wdr90	C	A	17: 26,067,649 (GRCm39)	E1420*	probably null	Het
Zfp518a	A	T	19: 40,903,462 (GRCm39)	R1130S	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
IGL03237:Ccm2l	APN	2	152,907,922 (GRCm39)	utr 5 prime	probably benign
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

2015-12-18