Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02821:Ccm2l'

361015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccm2l

Ensembl Gene

ENSMUSG00000027474

Gene Name

cerebral cavernous malformation 2-like

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02821

Quality Score

Status

Chromosome

Chromosomal Location

153065955-153081735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153067859 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 44 (L44F)

Ref Sequence

ENSEMBL: ENSMUSP00000105425 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109800
AA Change: L44F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: L44F

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
AA Change: L44F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474
AA Change: L44F

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	G	A	5: 5,452,039	Q138*	probably null	Het
1700025F22Rik	A	G	19: 11,141,533	*71Q	probably null	Het
4930474N05Rik	T	C	14: 36,096,516	L157S	probably benign	Het
Adam15	A	G	3: 89,345,356	S309P	probably damaging	Het
Agtpbp1	A	T	13: 59,482,601	M772K	possibly damaging	Het
Ankfn1	T	C	11: 89,391,616	M402V	probably benign	Het
Anln	G	A	9: 22,358,122	T822I	possibly damaging	Het
Atp13a4	A	G	16: 29,441,307	V589A	probably benign	Het
Cd177	A	T	7: 24,744,393	L760Q	probably damaging	Het
Cd177	G	T	7: 24,744,394	L760M	probably damaging	Het
Cfap69	T	C	5: 5,664,017	E5G	probably benign	Het
Col4a1	G	A	8: 11,221,375	T753I	probably benign	Het
Col6a3	T	A	1: 90,803,878	D1551V	probably damaging	Het
Ddx20	A	G	3: 105,679,277	V584A	probably benign	Het
Dopey1	C	A	9: 86,520,156	H1136Q	probably benign	Het
Egf	T	C	3: 129,702,479	E329G	probably damaging	Het
Eif3c	A	G	7: 126,558,659	V337A	probably benign	Het
Eif3f	G	T	7: 108,934,674		probably benign	Het
Eif3f	C	T	7: 108,934,675		probably benign	Het
Evc	T	A	5: 37,326,396	I187F	probably benign	Het
Fam117a	T	G	11: 95,363,989		probably benign	Het
H2-M10.4	A	T	17: 36,460,431	V285E	probably damaging	Het
Hps4	G	T	5: 112,375,441	M608I	probably benign	Het
Idh3b	T	A	2: 130,284,401	N6I	probably benign	Het
Itgam	A	T	7: 128,076,109	M169L	probably damaging	Het
Kcnn3	G	A	3: 89,662,722	G614D	possibly damaging	Het
Kcnn3	A	G	3: 89,520,974	N169S	possibly damaging	Het
Mn1	A	T	5: 111,421,851	K1229M	probably damaging	Het
Nckap5	A	G	1: 126,027,816	M401T	probably damaging	Het
Olfr366	T	C	2: 37,220,100	S204P	probably damaging	Het
Olfr891	T	C	9: 38,180,668	N52D	possibly damaging	Het
Olfr985	T	G	9: 40,127,265	E232A	probably benign	Het
Sim2	G	A	16: 94,097,188	V94M	probably damaging	Het
Slc46a3	G	A	5: 147,886,012	T340M	probably benign	Het
Ssc4d	A	G	5: 135,966,069		probably benign	Het
Tcrg-V4	T	A	13: 19,185,252	D55E	possibly damaging	Het
Trav12-1	A	G	14: 53,538,459	D22G	probably damaging	Het
Trps1	G	A	15: 50,660,877	T969M	probably damaging	Het
Ttn	T	A	2: 76,889,550		probably benign	Het
Ubqln4	A	G	3: 88,563,151	N310S	probably benign	Het
Vapa	T	C	17: 65,582,761		probably benign	Het
Vmn1r65	T	C	7: 6,008,894	T114A	possibly damaging	Het
Vps13d	T	C	4: 145,148,762	E1725G	probably damaging	Het
Vps53	A	G	11: 76,136,317		probably benign	Het
Xkr9	T	C	1: 13,672,575	L28P	probably damaging	Het

Other mutations in Ccm2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Ccm2l	APN	2	153080901	splice site	probably benign
IGL01826:Ccm2l	APN	2	153067933	splice site	probably benign
IGL02961:Ccm2l	APN	2	153078601	missense	probably benign	0.03
IGL03237:Ccm2l	APN	2	153066002	utr 5 prime	probably benign
R0103:Ccm2l	UTSW	2	153067919	nonsense	probably null
R0103:Ccm2l	UTSW	2	153067919	nonsense	probably null
R0420:Ccm2l	UTSW	2	153070862	missense	probably null	0.08
R0617:Ccm2l	UTSW	2	153070900	missense	probably damaging	0.99
R0760:Ccm2l	UTSW	2	153072184	missense	probably damaging	0.99
R1309:Ccm2l	UTSW	2	153070924	missense	probably damaging	0.97
R4787:Ccm2l	UTSW	2	153079502	missense	probably benign	0.00

Posted On

2015-12-18