Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Atp2c2'

317741

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

ATPase, Ca++ transporting, type 2C, member 2

Synonyms

1810010G06Rik

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120426748-120484456 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 120476610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095171]

AlphaFold

A7L9Z8

Predicted Effect

probably null
Transcript: ENSMUST00000095171

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112

Domain	Start	End	E-Value	Type
Cation_ATPase_N	54	128	1.27e-12	SMART
Pfam:E1-E2_ATPase	133	366	1.7e-62	PFAM
Pfam:Hydrolase	371	684	5.3e-18	PFAM
Pfam:HAD	374	681	7.4e-11	PFAM
Pfam:Cation_ATPase	437	521	1.1e-17	PFAM
Pfam:Cation_ATPase_C	754	927	1.1e-47	PFAM

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,093,996 (GRCm39)	M2173V	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Angpt1	T	C	15: 42,386,941 (GRCm39)	T138A	probably damaging	Het
Cadm2	A	G	16: 66,581,675 (GRCm39)	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,459,181 (GRCm39)	D671E	probably damaging	Het
Chd2	C	T	7: 73,150,764 (GRCm39)	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,118,729 (GRCm39)	Q29*	probably null	Het
Cip2a	T	C	16: 48,821,339 (GRCm39)		probably benign	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,978,091 (GRCm39)		noncoding transcript	Het
Gsdma2	T	A	11: 98,541,677 (GRCm39)	S135T	probably benign	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hoxb3	C	A	11: 96,236,926 (GRCm39)	H335N	probably damaging	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,672,350 (GRCm39)	T90I	probably damaging	Het
Kansl3	C	A	1: 36,384,035 (GRCm39)	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,207,035 (GRCm39)	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,767,927 (GRCm39)	E12V	probably damaging	Het
Klk15	A	T	7: 43,588,204 (GRCm39)	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,277,728 (GRCm39)	M1K	probably null	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp8	T	A	4: 107,700,468 (GRCm39)	C135*	probably null	Het
Lrrc31	C	A	3: 30,749,671 (GRCm39)	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Med27	G	A	2: 29,267,920 (GRCm39)		probably benign	Het
Mical1	T	C	10: 41,362,933 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,453,191 (GRCm39)	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,752,953 (GRCm39)	M477V	probably benign	Het
Npy4r	T	C	14: 33,869,098 (GRCm39)	I63M	probably benign	Het
Or2t43	A	T	11: 58,457,655 (GRCm39)	I172N	probably damaging	Het
Or52e15	C	T	7: 104,645,842 (GRCm39)	G90S	probably benign	Het
Or8b1b	T	A	9: 38,375,379 (GRCm39)	L14Q	probably null	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Piezo1	A	C	8: 123,227,899 (GRCm39)		probably null	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Proser1	T	C	3: 53,387,133 (GRCm39)		probably null	Het
Psme2	A	T	14: 55,825,734 (GRCm39)	N143K	probably benign	Het
Pygo2	C	A	3: 89,340,571 (GRCm39)	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,968,763 (GRCm39)	T77A	possibly damaging	Het
Recql5	A	G	11: 115,795,714 (GRCm39)	S190P	probably benign	Het
Serpina12	A	G	12: 104,004,183 (GRCm39)	F150L	probably damaging	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,831,281 (GRCm39)	T357M	probably damaging	Het
Spag6l	A	C	16: 16,646,888 (GRCm39)	N39K	probably benign	Het
Srl	A	G	16: 4,315,316 (GRCm39)	S109P	possibly damaging	Het
Tagap	A	T	17: 8,148,255 (GRCm39)	H152L	probably damaging	Het
Tbx3	T	A	5: 119,818,813 (GRCm39)	S463T	probably benign	Het
Tcaf2	A	G	6: 42,619,772 (GRCm39)	L85P	probably damaging	Het
Tenm4	A	T	7: 96,544,979 (GRCm39)	S2332C	probably damaging	Het
Trim60	A	T	8: 65,454,030 (GRCm39)	M73K	probably benign	Het
Trpc1	T	C	9: 95,588,918 (GRCm39)	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,025,958 (GRCm39)	L601Q	probably benign	Het
Unc5d	T	C	8: 29,334,865 (GRCm39)	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,223,856 (GRCm39)	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,678,943 (GRCm39)	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,803,642 (GRCm39)	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,676,185 (GRCm39)	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,676,186 (GRCm39)	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,270,442 (GRCm39)	V536A	probably benign	Het
Vstm2a	A	G	11: 16,209,884 (GRCm39)	T37A	probably damaging	Het
Wfs1	T	C	5: 37,124,809 (GRCm39)	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,348,940 (GRCm39)	S2440P	possibly damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	120,472,329 (GRCm39)	missense	probably benign
IGL01624:Atp2c2	APN	8	120,484,189 (GRCm39)	missense	probably benign	0.00
IGL02133:Atp2c2	APN	8	120,481,074 (GRCm39)	missense	probably benign	0.00
IGL02221:Atp2c2	APN	8	120,471,073 (GRCm39)	missense	probably damaging	1.00
IGL02606:Atp2c2	APN	8	120,457,013 (GRCm39)	missense	probably benign
IGL02657:Atp2c2	APN	8	120,479,771 (GRCm39)	missense	probably damaging	1.00
IGL02839:Atp2c2	APN	8	120,475,859 (GRCm39)	missense	possibly damaging	0.85
IGL03122:Atp2c2	APN	8	120,469,414 (GRCm39)	missense	possibly damaging	0.77
R0031:Atp2c2	UTSW	8	120,475,801 (GRCm39)	missense	probably benign	0.15
R0372:Atp2c2	UTSW	8	120,484,180 (GRCm39)	missense	probably benign
R0502:Atp2c2	UTSW	8	120,461,316 (GRCm39)	missense	probably null	0.99
R0503:Atp2c2	UTSW	8	120,461,316 (GRCm39)	missense	probably null	0.99
R0584:Atp2c2	UTSW	8	120,465,157 (GRCm39)	missense	probably benign	0.01
R1225:Atp2c2	UTSW	8	120,461,984 (GRCm39)	missense	probably damaging	1.00
R1580:Atp2c2	UTSW	8	120,479,726 (GRCm39)	missense	probably benign	0.00
R1620:Atp2c2	UTSW	8	120,475,865 (GRCm39)	missense	probably benign
R1638:Atp2c2	UTSW	8	120,482,742 (GRCm39)	missense	possibly damaging	0.82
R1745:Atp2c2	UTSW	8	120,451,833 (GRCm39)	missense	probably benign	0.02
R1746:Atp2c2	UTSW	8	120,461,182 (GRCm39)	unclassified	probably benign
R1907:Atp2c2	UTSW	8	120,476,615 (GRCm39)	splice site	probably benign
R2104:Atp2c2	UTSW	8	120,476,584 (GRCm39)	missense	probably benign
R2151:Atp2c2	UTSW	8	120,482,841 (GRCm39)	missense	probably benign
R2152:Atp2c2	UTSW	8	120,482,841 (GRCm39)	missense	probably benign
R2154:Atp2c2	UTSW	8	120,482,841 (GRCm39)	missense	probably benign
R2207:Atp2c2	UTSW	8	120,475,048 (GRCm39)	missense	probably damaging	1.00
R3874:Atp2c2	UTSW	8	120,462,035 (GRCm39)	missense	possibly damaging	0.74
R3912:Atp2c2	UTSW	8	120,448,015 (GRCm39)	missense	probably damaging	1.00
R4782:Atp2c2	UTSW	8	120,475,891 (GRCm39)	missense	probably damaging	0.97
R4801:Atp2c2	UTSW	8	120,474,426 (GRCm39)	missense	probably damaging	1.00
R4973:Atp2c2	UTSW	8	120,481,002 (GRCm39)	missense	probably benign	0.00
R5485:Atp2c2	UTSW	8	120,479,801 (GRCm39)	critical splice donor site	probably null
R5978:Atp2c2	UTSW	8	120,476,614 (GRCm39)	splice site	probably null
R6377:Atp2c2	UTSW	8	120,453,093 (GRCm39)	missense	probably benign	0.10
R6613:Atp2c2	UTSW	8	120,482,760 (GRCm39)	missense	probably damaging	0.99
R6765:Atp2c2	UTSW	8	120,479,756 (GRCm39)	missense	probably damaging	1.00
R6836:Atp2c2	UTSW	8	120,461,154 (GRCm39)	missense	probably damaging	1.00
R6963:Atp2c2	UTSW	8	120,457,006 (GRCm39)	nonsense	probably null
R7220:Atp2c2	UTSW	8	120,472,300 (GRCm39)	missense	probably benign	0.00
R7238:Atp2c2	UTSW	8	120,469,160 (GRCm39)	missense	possibly damaging	0.73
R7373:Atp2c2	UTSW	8	120,456,991 (GRCm39)	missense	probably benign	0.02
R7438:Atp2c2	UTSW	8	120,474,936 (GRCm39)	missense	probably damaging	1.00
R7573:Atp2c2	UTSW	8	120,478,008 (GRCm39)	missense	probably damaging	1.00
R7677:Atp2c2	UTSW	8	120,474,915 (GRCm39)	missense	probably benign	0.00
R7737:Atp2c2	UTSW	8	120,469,134 (GRCm39)	missense	probably damaging	1.00
R7912:Atp2c2	UTSW	8	120,456,917 (GRCm39)	missense	possibly damaging	0.81
R8821:Atp2c2	UTSW	8	120,476,033 (GRCm39)	splice site	probably null
R8831:Atp2c2	UTSW	8	120,476,033 (GRCm39)	splice site	probably null
R9200:Atp2c2	UTSW	8	120,474,999 (GRCm39)	nonsense	probably null
R9211:Atp2c2	UTSW	8	120,446,032 (GRCm39)	missense	probably benign
R9246:Atp2c2	UTSW	8	120,456,989 (GRCm39)	missense	probably damaging	1.00
R9285:Atp2c2	UTSW	8	120,465,141 (GRCm39)	missense	probably benign	0.00
RF004:Atp2c2	UTSW	8	120,479,561 (GRCm39)	missense	probably damaging	1.00
RF012:Atp2c2	UTSW	8	120,472,253 (GRCm39)	missense	possibly damaging	0.91
Z1177:Atp2c2	UTSW	8	120,461,124 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTTTGTGTCAAATGCCGGG -3'
(R):5'- CAATCCTGTTGCTTGGCCAG -3'

Sequencing Primer
(F):5'- GGAGGGTCAGGGCCACC -3'
(R):5'- TTGGCCAGCTGAGAGCCTG -3'

Posted On

2015-05-15