Mutagenetix > Incidental Mutation

Incidental Mutation 'R4787:Ccm2l'

367154

Institutional Source

Beutler Lab

Gene Symbol

Ccm2l

Ensembl Gene

ENSMUSG00000027474

Gene Name

cerebral cavernous malformation 2-like

Synonyms

BC020535

MMRRC Submission

041975-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152907875-152923655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152921422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 433 (M433L)

Ref Sequence

ENSEMBL: ENSMUSP00000105425 (fasta)

Gene Model

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

AlphaFold

Q8VCC6

Predicted Effect

probably benign
Transcript: ENSMUST00000109800
AA Change: M433L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: M433L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,199,008 (GRCm39)	Y138*	probably null	Het
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Amy2b	T	C	3: 113,058,634 (GRCm39)		noncoding transcript	Het
Anxa1	T	A	19: 20,351,118 (GRCm39)	D334V	probably damaging	Het
Atoh8	T	C	6: 72,200,761 (GRCm39)	T310A	possibly damaging	Het
BC002059	G	A	17: 17,193,810 (GRCm39)		noncoding transcript	Het
Ccdc40	A	G	11: 119,144,447 (GRCm39)	D924G	possibly damaging	Het
Cd209e	T	C	8: 3,901,181 (GRCm39)	S158G	probably null	Het
Cdkn2a	C	T	4: 89,194,955 (GRCm39)	R153H	unknown	Het
Cfap69	A	G	5: 5,696,934 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,280 (GRCm39)	T923A	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,500,248 (GRCm39)	F216S	probably damaging	Het
Dysf	T	A	6: 84,180,310 (GRCm39)	C1995*	probably null	Het
Epb41l5	G	A	1: 119,523,725 (GRCm39)	P467S	probably benign	Het
Extl1	G	A	4: 134,091,978 (GRCm39)	L292F	probably damaging	Het
Fsd1	A	G	17: 56,303,257 (GRCm39)	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,876,803 (GRCm39)		noncoding transcript	Het
Gm8894	A	G	14: 55,658,172 (GRCm39)		noncoding transcript	Het
Gtf3c2	C	T	5: 31,314,921 (GRCm39)	S942N	probably benign	Het
Gvin-ps3	T	C	7: 105,681,041 (GRCm39)		noncoding transcript	Het
H2-Ab1	A	T	17: 34,486,441 (GRCm39)	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,432,134 (GRCm39)	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,228,752 (GRCm39)	V171I	probably benign	Het
Il31ra	C	T	13: 112,664,079 (GRCm39)	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,385,261 (GRCm39)	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,126,813 (GRCm39)	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,668,081 (GRCm39)	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,548,175 (GRCm39)		probably benign	Het
Ldhb-ps	C	A	19: 21,915,601 (GRCm39)		noncoding transcript	Het
Lipo3	T	A	19: 33,757,749 (GRCm39)	Q240L	probably benign	Het
Lpar5	A	G	6: 125,059,461 (GRCm39)		probably null	Het
Lrrk2	A	G	15: 91,597,031 (GRCm39)	D541G	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Meig1	A	G	2: 3,410,251 (GRCm39)	V83A	possibly damaging	Het
Natd1	A	C	11: 60,797,822 (GRCm39)	C34W	probably damaging	Het
Nup205	T	A	6: 35,178,996 (GRCm39)	C689S	probably damaging	Het
Or4c104	T	A	2: 88,586,219 (GRCm39)	K267*	probably null	Het
Or52u1	T	C	7: 104,237,167 (GRCm39)	M52T	probably benign	Het
Or5d35	T	C	2: 87,855,204 (GRCm39)	M46T	possibly damaging	Het
Or6a2	G	A	7: 106,600,293 (GRCm39)	A258V	probably benign	Het
Pdgfrb	A	C	18: 61,212,759 (GRCm39)	S888R	probably damaging	Het
Plppr4	T	C	3: 117,115,979 (GRCm39)	E626G	probably damaging	Het
Ppfia3	C	A	7: 44,990,050 (GRCm39)	A1159S	possibly damaging	Het
Pramel32	T	A	4: 88,547,450 (GRCm39)	K74*	probably null	Het
Prex1	A	G	2: 166,480,260 (GRCm39)	V160A	probably benign	Het
Psmb7	C	T	2: 38,478,283 (GRCm39)	C247Y	probably benign	Het
Rbm33	C	T	5: 28,547,435 (GRCm39)		probably null	Het
Rfc5	T	C	5: 117,520,485 (GRCm39)	T236A	probably benign	Het
Sdk1	G	T	5: 141,568,168 (GRCm39)	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,792,195 (GRCm39)	S451P	possibly damaging	Het
Smap1	G	T	1: 23,888,347 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,927 (GRCm39)	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,711,765 (GRCm39)	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,492,488 (GRCm39)	P392S	probably benign	Het
Tef	T	A	15: 81,707,758 (GRCm39)	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,334,519 (GRCm39)	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,404,312 (GRCm39)	K121R	probably benign	Het
Trim36	C	A	18: 46,305,599 (GRCm39)	M461I	probably benign	Het
Trpc1	T	A	9: 95,603,468 (GRCm39)	M355L	probably benign	Het
Tspyl4	A	C	10: 34,173,760 (GRCm39)	D84A	probably benign	Het
Twf1	G	T	15: 94,482,315 (GRCm39)	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,392 (GRCm39)	C184R	probably damaging	Het
Unc79	C	T	12: 103,013,257 (GRCm39)	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860 (GRCm39)	C49R	probably benign	Het
Wdr11	T	A	7: 129,210,658 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,152,816 (GRCm39)	M97K	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAAGTCAGGTGGTGTTGC -3'
(R):5'- CAGCTTTGCTACTCTAGGGC -3'

Sequencing Primer
(F):5'- GTTGCAGTCTGGATCTGGTC -3'
(R):5'- GCCAGTTTGAGCATTGCCAC -3'

Posted On

2015-12-29