Mutagenetix > Incidental Mutation

Incidental Mutation 'R6594:Ccar2'

524820

Institutional Source

Beutler Lab

Gene Symbol

Ccar2

Ensembl Gene

ENSMUSG00000033712

Gene Name

cell cycle activator and apoptosis regulator 2

Synonyms

Dbc1, 2610301G19Rik

MMRRC Submission

044718-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R6594 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

70375613-70391260 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70377925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 687 (L687F)

Ref Sequence

ENSEMBL: ENSMUSP00000036924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]

AlphaFold

Q8VDP4

Predicted Effect

probably benign
Transcript: ENSMUST00000022680

SMART Domains

Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089

Domain	Start	End	E-Value	Type
BAR	5	225	2.05e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000035612
AA Change: L687F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: L687F

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:S1-like	55	112	1.3e-29	PFAM
DBC1	339	462	8.48e-73	SMART
low complexity region	496	507	N/A	INTRINSIC
low complexity region	534	545	N/A	INTRINSIC
low complexity region	563	601	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC
low complexity region	647	660	N/A	INTRINSIC
SCOP:d2mysb_	703	747	2e-3	SMART
Blast:HDc	704	758	7e-7	BLAST
coiled coil region	828	898	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (52/54)

MGI Phenotype

PHENOTYPE: Homozygous null mice on a high fat diet are resistant to hepatic steatosis and associated liver inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,113,432 (GRCm39)	N296S	probably benign	Het
Abca13	A	T	11: 9,244,632 (GRCm39)	N2165I	possibly damaging	Het
Anpep	T	A	7: 79,491,109 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,089,647 (GRCm39)	I145L	probably benign	Het
Cd69	A	G	6: 129,246,537 (GRCm39)		probably null	Het
Chchd10	A	C	10: 75,772,158 (GRCm39)	Q43P	probably damaging	Het
Ddx55	A	G	5: 124,704,988 (GRCm39)	E415G	probably damaging	Het
Defa41	A	G	8: 21,692,471 (GRCm39)		probably null	Het
Dhx40	A	T	11: 86,676,599 (GRCm39)	C172S	possibly damaging	Het
Epha1	G	A	6: 42,341,625 (GRCm39)	T475I	probably benign	Het
Eri1	T	C	8: 35,949,687 (GRCm39)	T91A	probably damaging	Het
Fscn1	C	T	5: 142,955,783 (GRCm39)	A158V	probably benign	Het
Gm11437	C	T	11: 84,055,386 (GRCm39)	G77R	probably null	Het
Golm1	T	C	13: 59,812,041 (GRCm39)	N94D	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Haus4	C	A	14: 54,781,268 (GRCm39)	E269D	possibly damaging	Het
Hyou1	T	C	9: 44,300,619 (GRCm39)	M896T	probably benign	Het
Itpr2	T	A	6: 146,091,978 (GRCm39)	M2174L	possibly damaging	Het
Kars1	T	C	8: 112,720,299 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,949,035 (GRCm39)	M1488V	probably benign	Het
Lrp2	T	C	2: 69,270,267 (GRCm39)	T4106A	possibly damaging	Het
Lrrc20	G	A	10: 61,318,225 (GRCm39)	V16I	possibly damaging	Het
Mecr	T	A	4: 131,582,004 (GRCm39)	V162E	probably damaging	Het
Ms4a4a	C	A	19: 11,363,778 (GRCm39)	A102E	probably damaging	Het
Mycn	T	C	12: 12,990,051 (GRCm39)	D115G	probably damaging	Het
Ninj2	A	T	6: 120,175,750 (GRCm39)	T138S	possibly damaging	Het
Oasl2	G	A	5: 115,044,836 (GRCm39)	V121I	probably benign	Het
Or10s1	T	C	9: 39,986,239 (GRCm39)	L216P	probably damaging	Het
Or2r11	A	T	6: 42,437,309 (GRCm39)	S215T	probably benign	Het
Or7g19	T	C	9: 18,856,127 (GRCm39)	F61S	probably damaging	Het
Pcdha11	A	C	18: 37,144,235 (GRCm39)	I109L	probably benign	Het
Pira1	T	A	7: 3,739,498 (GRCm39)	K457*	probably null	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Rp1l1	A	T	14: 64,269,126 (GRCm39)	K1571*	probably null	Het
Sec24d	G	T	3: 123,087,412 (GRCm39)	G193C	probably damaging	Het
Sema3b	A	T	9: 107,476,025 (GRCm39)	M732K	probably benign	Het
Serpinb8	T	C	1: 107,525,201 (GRCm39)	M1T	probably null	Het
Sgip1	T	A	4: 102,819,676 (GRCm39)	V594E	probably damaging	Het
Slc3a2	T	C	19: 8,685,410 (GRCm39)	S197G	probably damaging	Het
Slc44a5	T	C	3: 153,964,660 (GRCm39)	V520A	possibly damaging	Het
Surf6	G	T	2: 26,792,761 (GRCm39)	D13E	possibly damaging	Het
Tmem94	G	A	11: 115,689,112 (GRCm39)	R1341H	probably damaging	Het
Tns2	G	A	15: 102,018,994 (GRCm39)	R395Q	probably benign	Het
Traf7	A	G	17: 24,728,813 (GRCm39)	V591A	possibly damaging	Het
Trim72	T	C	7: 127,609,220 (GRCm39)	S341P	probably damaging	Het
Trps1	A	G	15: 50,694,351 (GRCm39)	V398A	probably damaging	Het
Ube2m	C	A	7: 12,771,617 (GRCm39)	E14*	probably null	Het
Unc119	T	A	11: 78,238,046 (GRCm39)	Y10N	probably damaging	Het
Ush2a	T	C	1: 188,642,995 (GRCm39)	L4119P	possibly damaging	Het
Vcp	A	T	4: 42,993,826 (GRCm39)	I102N	probably damaging	Het
Vmn2r4	A	G	3: 64,296,731 (GRCm39)	S685P	probably damaging	Het
Vmn2r58	T	C	7: 41,486,535 (GRCm39)	M787V	possibly damaging	Het
Vmn2r72	T	C	7: 85,398,892 (GRCm39)	H487R	probably benign	Het
Xcr1	A	G	9: 123,685,309 (GRCm39)	I151T	probably benign	Het
Zfp658	T	C	7: 43,216,701 (GRCm39)	S24P	possibly damaging	Het
Zfyve16	T	C	13: 92,650,326 (GRCm39)	D886G	probably benign	Het

Other mutations in Ccar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Ccar2	APN	14	70,379,980 (GRCm39)	nonsense	probably null
IGL01351:Ccar2	APN	14	70,383,311 (GRCm39)	missense	probably benign	0.03
IGL01450:Ccar2	APN	14	70,377,200 (GRCm39)	splice site	probably benign
IGL02306:Ccar2	APN	14	70,379,471 (GRCm39)	missense	probably benign	0.01
IGL03403:Ccar2	APN	14	70,377,517 (GRCm39)	missense	probably damaging	1.00
R0332:Ccar2	UTSW	14	70,379,384 (GRCm39)	splice site	probably benign
R0502:Ccar2	UTSW	14	70,378,431 (GRCm39)	missense	probably benign	0.00
R0827:Ccar2	UTSW	14	70,377,287 (GRCm39)	missense	probably benign	0.00
R1022:Ccar2	UTSW	14	70,377,964 (GRCm39)	missense	probably damaging	1.00
R1024:Ccar2	UTSW	14	70,377,964 (GRCm39)	missense	probably damaging	1.00
R1160:Ccar2	UTSW	14	70,377,218 (GRCm39)	missense	probably benign	0.42
R1258:Ccar2	UTSW	14	70,390,122 (GRCm39)	missense	probably benign	0.24
R1389:Ccar2	UTSW	14	70,377,558 (GRCm39)	missense	possibly damaging	0.46
R1532:Ccar2	UTSW	14	70,380,405 (GRCm39)	missense	probably benign	0.01
R1870:Ccar2	UTSW	14	70,377,946 (GRCm39)	missense	probably damaging	1.00
R2127:Ccar2	UTSW	14	70,377,100 (GRCm39)	missense	probably benign	0.33
R4233:Ccar2	UTSW	14	70,388,540 (GRCm39)	missense	possibly damaging	0.76
R4569:Ccar2	UTSW	14	70,389,359 (GRCm39)	splice site	probably null
R4799:Ccar2	UTSW	14	70,377,003 (GRCm39)	missense	probably damaging	0.99
R5026:Ccar2	UTSW	14	70,379,951 (GRCm39)	missense	possibly damaging	0.89
R5435:Ccar2	UTSW	14	70,376,776 (GRCm39)	missense	probably damaging	1.00
R5893:Ccar2	UTSW	14	70,388,800 (GRCm39)	missense	probably benign	0.28
R6446:Ccar2	UTSW	14	70,380,518 (GRCm39)	missense	probably benign	0.31
R6648:Ccar2	UTSW	14	70,376,674 (GRCm39)	missense	probably benign	0.29
R7103:Ccar2	UTSW	14	70,379,426 (GRCm39)	missense	probably damaging	0.99
R7594:Ccar2	UTSW	14	70,379,243 (GRCm39)	nonsense	probably null
R7679:Ccar2	UTSW	14	70,376,684 (GRCm39)	nonsense	probably null
R7975:Ccar2	UTSW	14	70,380,918 (GRCm39)	missense	possibly damaging	0.51
R8071:Ccar2	UTSW	14	70,389,902 (GRCm39)	missense	probably benign	0.26
R9360:Ccar2	UTSW	14	70,379,445 (GRCm39)	missense	probably damaging	1.00
R9574:Ccar2	UTSW	14	70,381,105 (GRCm39)	missense	probably benign	0.01
R9631:Ccar2	UTSW	14	70,389,344 (GRCm39)	missense	probably damaging	1.00
R9705:Ccar2	UTSW	14	70,380,383 (GRCm39)	missense	probably damaging	1.00
R9749:Ccar2	UTSW	14	70,388,728 (GRCm39)	missense	probably benign	0.28
V5088:Ccar2	UTSW	14	70,388,738 (GRCm39)	missense	probably damaging	0.99
V5622:Ccar2	UTSW	14	70,388,738 (GRCm39)	missense	probably damaging	0.99
V5622:Ccar2	UTSW	14	70,388,738 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGCACATTCCCAGAACATG -3'
(R):5'- ACCTCTGTGAGATGGCCTTG -3'

Sequencing Primer
(F):5'- GGCACATTCCCAGAACATGCTATG -3'
(R):5'- CCTCTTAAGCAGAAGTGGTTCTCAAC -3'

Posted On

2018-06-22