Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Ccar2'

457326

Institutional Source

Beutler Lab

Gene Symbol

Ccar2

Ensembl Gene

ENSMUSG00000033712

Gene Name

cell cycle activator and apoptosis regulator 2

Synonyms

Dbc1, 2610301G19Rik

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70375613-70391260 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70388800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 137 (Q137L)

Ref Sequence

ENSEMBL: ENSMUSP00000036924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035612] [ENSMUST00000058240] [ENSMUST00000129767] [ENSMUST00000153871]

AlphaFold

Q8VDP4

Predicted Effect

probably benign
Transcript: ENSMUST00000035612
AA Change: Q137L

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: Q137L

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

probably benign
Transcript: ENSMUST00000058240

SMART Domains

Protein: ENSMUSP00000061834
Gene: ENSMUSG00000044551

Domain	Start	End	E-Value	Type
Pfam:DUF4657	78	366	1e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140314

Predicted Effect

probably benign
Transcript: ENSMUST00000153871

SMART Domains

Protein: ENSMUSP00000122309
Gene: ENSMUSG00000044551

Domain	Start	End	E-Value	Type
Pfam:DUF4657	78	365	1.4e-132	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	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
R6446:Ccar2	UTSW	14	70,380,518 (GRCm39)	missense	probably benign	0.31
R6594:Ccar2	UTSW	14	70,377,925 (GRCm39)	missense	probably damaging	1.00
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'- CTTCCTGTGTAGAGAAGTACCCC -3'
(R):5'- GGAATGCTGTCAAGGTGCAG -3'

Sequencing Primer
(F):5'- TGTGTAGAGAAGTACCCCCTCTG -3'
(R):5'- AGCATGTCCTCTGCAATGG -3'

Posted On

2017-02-15