Mutagenetix > Incidental Mutation

Incidental Mutation 'R8852:Ccm2l'

675043

Institutional Source

Beutler Lab

Gene Symbol

Ccm2l

Ensembl Gene

ENSMUSG00000027474

Gene Name

cerebral cavernous malformation 2-like

Synonyms

BC020535

MMRRC Submission

068674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8852 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152907875-152923655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152916788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 340 (Y340H)

Ref Sequence

ENSEMBL: ENSMUSP00000105425 (fasta)

Gene Model

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

AlphaFold

Q8VCC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000109800
AA Change: Y340H

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

SMART Domains

Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: Y340H

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,231,197 (GRCm39)	V985G	possibly damaging	Het
Acr	T	G	15: 89,458,057 (GRCm39)	M246R	probably damaging	Het
Adgrf5	G	T	17: 43,763,989 (GRCm39)	V1304L	possibly damaging	Het
Ago4	A	T	4: 126,387,043 (GRCm39)	D853E	probably benign	Het
Arvcf	C	A	16: 18,222,203 (GRCm39)	D790E	probably benign	Het
Atp8a2	A	C	14: 60,162,545 (GRCm39)	D725E	probably damaging	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Camkk2	T	C	5: 122,891,820 (GRCm39)	Y234C	probably damaging	Het
Ccdc106	A	G	7: 5,062,570 (GRCm39)	D192G	probably benign	Het
Chd1l	A	G	3: 97,477,685 (GRCm39)	F690S	probably benign	Het
Chuk	A	G	19: 44,076,407 (GRCm39)	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,576,703 (GRCm39)	S10T	probably benign	Het
Cnppd1	A	G	1: 75,113,063 (GRCm39)	S402P	probably damaging	Het
Cped1	A	G	6: 22,215,620 (GRCm39)	D718G	probably damaging	Het
Crtc1	A	G	8: 70,840,805 (GRCm39)	S474P	probably damaging	Het
Dcpp3	G	T	17: 24,138,123 (GRCm39)	E94*	probably null	Het
Dhx38	A	T	8: 110,289,361 (GRCm39)	L13*	probably null	Het
Dmbt1	T	C	7: 130,642,853 (GRCm39)	Y120H	unknown	Het
Fntb	T	A	12: 76,934,826 (GRCm39)	V201E	possibly damaging	Het
Gga3	T	C	11: 115,481,244 (GRCm39)	D242G	probably benign	Het
Gsx2	T	C	5: 75,236,996 (GRCm39)	M192T	possibly damaging	Het
Hif3a	A	T	7: 16,774,912 (GRCm39)	M562K	probably benign	Het
Irf5	G	A	6: 29,535,997 (GRCm39)	R337H	probably damaging	Het
Kcnmb3	A	G	3: 32,526,624 (GRCm39)	V189A	possibly damaging	Het
Letmd1	A	G	15: 100,373,247 (GRCm39)	T241A	probably benign	Het
Lrrc14b	T	A	13: 74,509,408 (GRCm39)	D333V	probably damaging	Het
Meaf6	T	A	4: 124,979,990 (GRCm39)	L48Q	probably damaging	Het
Miip	T	A	4: 147,950,839 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,569,461 (GRCm39)	T236A	possibly damaging	Het
Myh4	T	A	11: 67,132,335 (GRCm39)	I155N	probably damaging	Het
Obscn	C	T	11: 58,898,440 (GRCm39)	R6607Q	unknown	Het
Or2ak7	C	T	11: 58,574,966 (GRCm39)	T89I	probably benign	Het
Or5v1	G	A	17: 37,810,321 (GRCm39)	V260M	probably benign	Het
Otof	T	C	5: 30,529,044 (GRCm39)	N1788S	possibly damaging	Het
Psapl1	T	C	5: 36,362,314 (GRCm39)	L302S	probably damaging	Het
Rdh8	A	C	9: 20,734,021 (GRCm39)	N69T	probably benign	Het
Ryr3	T	C	2: 112,624,844 (GRCm39)	E2212G	probably damaging	Het
Septin7	A	T	9: 25,163,980 (GRCm39)	N16Y	possibly damaging	Het
Slc22a17	A	T	14: 55,146,436 (GRCm39)	L60Q	probably damaging	Het
Snrnp200	T	C	2: 127,060,349 (GRCm39)	I531T	probably damaging	Het
Ssh3	A	T	19: 4,317,992 (GRCm39)	V41E	probably damaging	Het
Tars1	G	T	15: 11,393,348 (GRCm39)	N115K	probably benign	Het
Tomm6	G	C	17: 47,998,850 (GRCm39)	F34L	possibly damaging	Het
Txnrd2	G	A	16: 18,259,601 (GRCm39)	V173M	possibly damaging	Het
Uba6	T	A	5: 86,289,454 (GRCm39)	I450F	possibly damaging	Het
Vmn2r95	G	T	17: 18,664,113 (GRCm39)	S516I	possibly damaging	Het
Vps4b	A	G	1: 106,710,414 (GRCm39)	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,706,019 (GRCm39)	H352L	probably damaging	Het
Zfp521	T	C	18: 14,072,150 (GRCm39)	D30G	probably benign	Het
Zic2	A	T	14: 122,713,530 (GRCm39)	H148L	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
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
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'- TGCATCTGAGGACATAGGCATG -3'
(R):5'- AGTGCCTAAGTTCAAACTCATCC -3'

Sequencing Primer
(F):5'- ACATAGGCATGTCCTGGGG -3'
(R):5'- TCAGGTCATCGCTAAAGAGGTCATC -3'

Posted On

2021-07-15