Mutagenetix > Incidental Mutation

Incidental Mutation 'R1854:Ccar1'

205938

Institutional Source

Beutler Lab

Gene Symbol

Ccar1

Ensembl Gene

ENSMUSG00000020074

Gene Name

cell division cycle and apoptosis regulator 1

Synonyms

9430036H15Rik, 2610511G16Rik, Carp1

MMRRC Submission

039878-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R1854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62579707-62628065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62600296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 545 (I545N)

Ref Sequence

ENSEMBL: ENSMUSP00000151895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020268] [ENSMUST00000219527]

AlphaFold

Q8CH18

Predicted Effect

probably damaging
Transcript: ENSMUST00000020268
AA Change: I545N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: I545N

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
low complexity region	62	106	N/A	INTRINSIC
Pfam:S1-like	144	201	1.7e-34	PFAM
low complexity region	236	254	N/A	INTRINSIC
low complexity region	256	279	N/A	INTRINSIC
low complexity region	311	358	N/A	INTRINSIC
DBC1	475	606	4.46e-90	SMART
SAP	633	667	5.25e-9	SMART
Blast:HDc	753	784	1e-7	BLAST
coiled coil region	792	819	N/A	INTRINSIC
low complexity region	871	895	N/A	INTRINSIC
SCOP:d1hqva_	898	964	5e-3	SMART
Blast:HDc	921	979	5e-17	BLAST
coiled coil region	1029	1111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219441

Predicted Effect

probably damaging
Transcript: ENSMUST00000219527
AA Change: I545N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220236

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

All alleles(45) : Targeted, other(4) Gene trapped(41)

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	T	16: 88,504,668 (GRCm39)	R43K	possibly damaging	Het
Acp1	A	G	12: 30,947,804 (GRCm39)	I78T	possibly damaging	Het
Afap1l1	G	T	18: 61,876,365 (GRCm39)	D417E	probably benign	Het
Agap2	G	A	10: 126,916,385 (GRCm39)	V299I	unknown	Het
Ahnak	C	T	19: 8,991,196 (GRCm39)	A4160V	possibly damaging	Het
Anapc1	T	C	2: 128,517,810 (GRCm39)	E278G	probably damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atg2a	A	G	19: 6,302,461 (GRCm39)	E928G	probably benign	Het
Atp2b2	A	C	6: 113,819,244 (GRCm39)	N16K	probably damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
Bfsp2	C	T	9: 103,327,030 (GRCm39)	G236S	probably benign	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cdc42bpg	A	T	19: 6,370,837 (GRCm39)	H1310L	possibly damaging	Het
Ces1h	T	C	8: 94,085,450 (GRCm39)	K339E	probably benign	Het
Cfap91	T	C	16: 38,144,659 (GRCm39)		probably null	Het
Cit	A	G	5: 116,011,960 (GRCm39)	Y189C	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Cntrl	A	G	2: 35,012,696 (GRCm39)	D278G	probably damaging	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Col6a1	T	G	10: 76,557,783 (GRCm39)	Y151S	probably damaging	Het
Col6a2	T	A	10: 76,450,646 (GRCm39)	Q95L	probably damaging	Het
Cpd	G	T	11: 76,677,164 (GRCm39)	P1185Q	probably damaging	Het
Cycs	T	A	6: 50,542,309 (GRCm39)	I76F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,073 (GRCm39)	I34N	probably damaging	Het
Ddx1	A	C	12: 13,279,332 (GRCm39)	S436A	probably benign	Het
Defa30	A	G	8: 21,625,500 (GRCm39)	Y88C	probably damaging	Het
Dhx30	G	A	9: 109,917,740 (GRCm39)	L317F	probably damaging	Het
Dll3	C	A	7: 27,995,835 (GRCm39)	G322V	probably damaging	Het
Dnah10	G	A	5: 124,881,753 (GRCm39)	D2843N	probably damaging	Het
Dnaja3	C	T	16: 4,515,133 (GRCm39)	T266I	probably damaging	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
E030025P04Rik	A	G	11: 109,034,744 (GRCm39)	V48A	unknown	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Eri3	G	A	4: 117,506,562 (GRCm39)	G297D	probably benign	Het
Esp34	A	G	17: 38,870,424 (GRCm39)	E38G	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frzb	A	G	2: 80,276,724 (GRCm39)	V154A	possibly damaging	Het
Fsip2	G	T	2: 82,823,601 (GRCm39)	A6445S	possibly damaging	Het
Gm11938	G	A	11: 99,493,843 (GRCm39)	T84I	possibly damaging	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Gpa33	A	G	1: 165,992,759 (GRCm39)	I291V	probably benign	Het
Gpr158	A	G	2: 21,373,935 (GRCm39)	Y290C	probably damaging	Het
Gpsm1	G	T	2: 26,234,725 (GRCm39)	G84W	probably damaging	Het
Hormad1	A	G	3: 95,487,317 (GRCm39)	N267S	probably benign	Het
Htr2a	A	T	14: 74,943,193 (GRCm39)	I258F	probably damaging	Het
Htra4	T	C	8: 25,523,597 (GRCm39)	T323A	probably damaging	Het
Ift140	T	A	17: 25,254,813 (GRCm39)	F162Y	probably benign	Het
Islr2	T	C	9: 58,107,099 (GRCm39)	T54A	probably damaging	Het
Kcna4	T	G	2: 107,126,829 (GRCm39)	V521G	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Kif6	G	T	17: 50,208,799 (GRCm39)	A740S	probably benign	Het
Lad1	T	A	1: 135,755,468 (GRCm39)	V248E	probably damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Lamc1	A	G	1: 153,125,618 (GRCm39)	Y552H	probably damaging	Het
Mctp1	A	T	13: 76,973,860 (GRCm39)	T706S	probably damaging	Het
Med12l	A	G	3: 59,168,193 (GRCm39)	Y1541C	probably damaging	Het
Mnx1	C	T	5: 29,682,780 (GRCm39)	S165N	unknown	Het
Morn3	A	T	5: 123,184,692 (GRCm39)		probably null	Het
Nalcn	C	T	14: 123,697,824 (GRCm39)	R484Q	probably damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Or1j11	C	T	2: 36,311,886 (GRCm39)	H159Y	probably damaging	Het
Or2z2	G	A	11: 58,346,257 (GRCm39)	R173W	probably damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pcdhb5	T	C	18: 37,455,393 (GRCm39)	V591A	possibly damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Phactr3	C	A	2: 177,924,940 (GRCm39)	L292M	probably damaging	Het
Phf21b	T	A	15: 84,738,963 (GRCm39)	I21F	probably benign	Het
Pign	A	G	1: 105,482,223 (GRCm39)	V791A	probably damaging	Het
Pitpna	A	G	11: 75,499,929 (GRCm39)		probably null	Het
Piwil1	G	T	5: 128,824,903 (GRCm39)	E534*	probably null	Het
Plcz1	T	A	6: 139,938,775 (GRCm39)	I526F	probably benign	Het
Pms2	A	T	5: 143,862,714 (GRCm39)	K607I	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Polq	C	T	16: 36,882,471 (GRCm39)	T1545I	probably benign	Het
Psd4	G	A	2: 24,287,468 (GRCm39)	E467K	probably benign	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Pzp	T	C	6: 128,479,188 (GRCm39)	Y655C	probably damaging	Het
Qrsl1	C	T	10: 43,770,541 (GRCm39)	G117E	probably damaging	Het
Rad54b	G	A	4: 11,601,669 (GRCm39)	C408Y	probably damaging	Het
Ralb	T	A	1: 119,403,797 (GRCm39)	Q110L	possibly damaging	Het
Rrm2	A	G	12: 24,763,151 (GRCm39)	K218E	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc17a8	A	T	10: 89,442,627 (GRCm39)	C69S	unknown	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc38a11	A	T	2: 65,193,860 (GRCm39)		probably null	Het
Smarcal1	G	A	1: 72,625,258 (GRCm39)	G135D	possibly damaging	Het
Snrnp70	T	A	7: 45,026,644 (GRCm39)	R242*	probably null	Het
St3gal5	T	C	6: 72,109,077 (GRCm39)	L55P	probably damaging	Het
Sulf1	A	G	1: 12,908,661 (GRCm39)	N558S	probably benign	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tas2r113	T	A	6: 132,870,292 (GRCm39)	Y107N	probably damaging	Het
Tcf7	A	G	11: 52,147,891 (GRCm39)	V187A	probably benign	Het
Tdrd9	G	A	12: 112,011,246 (GRCm39)	G1152R	probably damaging	Het
Tfpi	A	G	2: 84,288,451 (GRCm39)	Y9H	probably benign	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trip12	T	A	1: 84,705,866 (GRCm39)	N655Y	probably damaging	Het
Ttn	A	G	2: 76,581,773 (GRCm39)	V23040A	probably damaging	Het
Tulp2	T	A	7: 45,167,367 (GRCm39)	N188K	probably damaging	Het
Ube2c	C	T	2: 164,613,282 (GRCm39)	H67Y	probably damaging	Het
Unc80	C	A	1: 66,670,573 (GRCm39)	P1899T	possibly damaging	Het
Usp34	C	T	11: 23,376,153 (GRCm39)	A1879V	probably benign	Het
Vmn2r118	G	A	17: 55,918,556 (GRCm39)	S112L	possibly damaging	Het
Wdfy3	A	T	5: 102,036,052 (GRCm39)	V2122E	probably benign	Het
Zcchc4	A	G	5: 52,973,168 (GRCm39)	Y344C	probably damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zdhhc25	A	T	15: 88,484,689 (GRCm39)	H8L	probably benign	Het
Zfp455	A	T	13: 67,355,881 (GRCm39)	H383L	probably damaging	Het
Zfp663	A	G	2: 165,195,211 (GRCm39)	I336T	probably benign	Het
Zfp738	T	A	13: 67,818,476 (GRCm39)	H505L	probably damaging	Het
Zfp84	T	G	7: 29,474,796 (GRCm39)	F23V	possibly damaging	Het

Other mutations in Ccar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Ccar1	APN	10	62,589,013 (GRCm39)	missense	unknown
IGL01291:Ccar1	APN	10	62,592,428 (GRCm39)	missense	probably damaging	1.00
IGL01364:Ccar1	APN	10	62,612,653 (GRCm39)	splice site	probably null
IGL01777:Ccar1	APN	10	62,616,356 (GRCm39)	missense	possibly damaging	0.71
IGL01958:Ccar1	APN	10	62,626,714 (GRCm39)	missense	possibly damaging	0.94
IGL03096:Ccar1	APN	10	62,600,112 (GRCm39)	missense	probably benign	0.20
Lonk	UTSW	10	62,600,312 (GRCm39)	missense	probably damaging	1.00
1mM(1):Ccar1	UTSW	10	62,619,665 (GRCm39)	missense	probably benign	0.00
ANU05:Ccar1	UTSW	10	62,592,428 (GRCm39)	missense	probably damaging	1.00
R0440:Ccar1	UTSW	10	62,616,236 (GRCm39)	missense	possibly damaging	0.94
R1295:Ccar1	UTSW	10	62,619,661 (GRCm39)	critical splice donor site	probably null
R1573:Ccar1	UTSW	10	62,586,434 (GRCm39)	missense	unknown
R1585:Ccar1	UTSW	10	62,586,780 (GRCm39)	missense	unknown
R1633:Ccar1	UTSW	10	62,586,793 (GRCm39)	missense	unknown
R1840:Ccar1	UTSW	10	62,599,289 (GRCm39)	missense	probably damaging	0.98
R1905:Ccar1	UTSW	10	62,612,437 (GRCm39)	missense	possibly damaging	0.85
R2011:Ccar1	UTSW	10	62,612,473 (GRCm39)	missense	probably benign	0.03
R2041:Ccar1	UTSW	10	62,601,827 (GRCm39)	missense	probably damaging	1.00
R2202:Ccar1	UTSW	10	62,581,066 (GRCm39)	missense	unknown
R2327:Ccar1	UTSW	10	62,600,161 (GRCm39)	missense	probably damaging	1.00
R2932:Ccar1	UTSW	10	62,612,538 (GRCm39)	missense	probably benign	0.08
R3040:Ccar1	UTSW	10	62,592,273 (GRCm39)	missense	possibly damaging	0.83
R4647:Ccar1	UTSW	10	62,583,196 (GRCm39)	nonsense	probably null
R4829:Ccar1	UTSW	10	62,581,114 (GRCm39)	missense	unknown
R4887:Ccar1	UTSW	10	62,588,997 (GRCm39)	missense	unknown
R4888:Ccar1	UTSW	10	62,588,997 (GRCm39)	missense	unknown
R5000:Ccar1	UTSW	10	62,586,784 (GRCm39)	missense	unknown
R5207:Ccar1	UTSW	10	62,589,060 (GRCm39)	missense	unknown
R5214:Ccar1	UTSW	10	62,606,740 (GRCm39)	missense	probably damaging	1.00
R5644:Ccar1	UTSW	10	62,607,757 (GRCm39)	missense	probably benign	0.16
R6035:Ccar1	UTSW	10	62,587,564 (GRCm39)	missense	unknown
R6035:Ccar1	UTSW	10	62,587,564 (GRCm39)	missense	unknown
R6063:Ccar1	UTSW	10	62,612,496 (GRCm39)	missense	possibly damaging	0.70
R6330:Ccar1	UTSW	10	62,600,312 (GRCm39)	missense	probably damaging	1.00
R6370:Ccar1	UTSW	10	62,600,308 (GRCm39)	missense	probably damaging	1.00
R6828:Ccar1	UTSW	10	62,600,209 (GRCm39)	missense	probably damaging	0.98
R6943:Ccar1	UTSW	10	62,582,715 (GRCm39)	missense	unknown
R8054:Ccar1	UTSW	10	62,583,215 (GRCm39)	missense	unknown
R8089:Ccar1	UTSW	10	62,626,770 (GRCm39)	start codon destroyed	probably null	0.33
R8202:Ccar1	UTSW	10	62,607,768 (GRCm39)	missense	possibly damaging	0.94
R8544:Ccar1	UTSW	10	62,586,358 (GRCm39)	missense	unknown
R8730:Ccar1	UTSW	10	62,601,191 (GRCm39)	missense	probably damaging	1.00
R9182:Ccar1	UTSW	10	62,621,347 (GRCm39)	missense	probably damaging	0.98
R9645:Ccar1	UTSW	10	62,602,369 (GRCm39)	missense	probably benign	0.09
V8831:Ccar1	UTSW	10	62,583,185 (GRCm39)	missense	unknown
X0017:Ccar1	UTSW	10	62,601,119 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCACCCTGAAGCTTCTCGAC -3'
(R):5'- TGGGTAGCTCTGTAAACATATCAG -3'

Sequencing Primer
(F):5'- TGAAGCTTCTCGACCAGCTG -3'
(R):5'- CCAAATGTACCAAAAGAGGAACTATG -3'

Posted On

2014-06-23