Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Ccar2'

428290

Institutional Source

Beutler Lab

Gene Symbol

Ccar2

Ensembl Gene

ENSMUSG00000033712

Gene Name

cell cycle activator and apoptosis regulator 2

Synonyms

2610301G19Rik

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70138164-70153811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70139327 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 856 (L856P)

Ref Sequence

ENSEMBL: ENSMUSP00000036924 (fasta)

Gene Model

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

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: L856P

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

SMART Domains

Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712
AA Change: L856P

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: ENSMUST00000226385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228049

Meta Mutation Damage Score

0.4974

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly damaging	Het

Other mutations in Ccar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Ccar2	APN	14	70142531	nonsense	probably null
IGL01351:Ccar2	APN	14	70145862	missense	probably benign	0.03
IGL01450:Ccar2	APN	14	70139751	splice site	probably benign
IGL02306:Ccar2	APN	14	70142022	missense	probably benign	0.01
IGL03403:Ccar2	APN	14	70140068	missense	probably damaging	1.00
R0332:Ccar2	UTSW	14	70141935	splice site	probably benign
R0502:Ccar2	UTSW	14	70140982	missense	probably benign	0.00
R0827:Ccar2	UTSW	14	70139838	missense	probably benign	0.00
R1022:Ccar2	UTSW	14	70140515	missense	probably damaging	1.00
R1024:Ccar2	UTSW	14	70140515	missense	probably damaging	1.00
R1160:Ccar2	UTSW	14	70139769	missense	probably benign	0.42
R1258:Ccar2	UTSW	14	70152673	missense	probably benign	0.24
R1389:Ccar2	UTSW	14	70140109	missense	possibly damaging	0.46
R1532:Ccar2	UTSW	14	70142956	missense	probably benign	0.01
R1870:Ccar2	UTSW	14	70140497	missense	probably damaging	1.00
R2127:Ccar2	UTSW	14	70139651	missense	probably benign	0.33
R4233:Ccar2	UTSW	14	70151091	missense	possibly damaging	0.76
R4569:Ccar2	UTSW	14	70151910	unclassified	probably null
R4799:Ccar2	UTSW	14	70139554	missense	probably damaging	0.99
R5026:Ccar2	UTSW	14	70142502	missense	possibly damaging	0.89
R5893:Ccar2	UTSW	14	70151351	missense	probably benign	0.28
R6446:Ccar2	UTSW	14	70143069	missense	probably benign	0.31
R6594:Ccar2	UTSW	14	70140476	missense	probably damaging	1.00
R6648:Ccar2	UTSW	14	70139225	missense	probably benign	0.29
R7103:Ccar2	UTSW	14	70141977	missense	probably damaging	0.99
R7594:Ccar2	UTSW	14	70141794	nonsense	probably null
R7679:Ccar2	UTSW	14	70139235	nonsense	probably null
V5088:Ccar2	UTSW	14	70151289	missense	probably damaging	0.99
V5622:Ccar2	UTSW	14	70151289	missense	probably damaging	0.99
V5622:Ccar2	UTSW	14	70151289	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCACCAAAAGGAACTATGGCC -3'
(R):5'- CCGCCTATACCTGGAGAACAAG -3'

Sequencing Primer
(F):5'- GGAACTATGGCCACCCTTTAG -3'
(R):5'- GATTCACACACTGGAACTGAAGCTTG -3'

Posted On

2016-09-01