Mutagenetix > Incidental Mutation

Incidental Mutation 'R0031:Atp2c2'

18639

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

038325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119749062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 565 (T565S)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: T565S

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: T565S

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

0.1657

Coding Region Coverage

1x: 81.0%
3x: 73.5%
10x: 52.2%
20x: 32.1%

Validation Efficiency

93% (95/102)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,973,712	K1015M	probably damaging	Het
Abcb11	G	A	2: 69,285,308	R571C	probably damaging	Het
Agr3	T	C	12: 35,947,591	M100T	probably benign	Het
Ankrd7	T	A	6: 18,870,008	Y253*	probably null	Het
C330027C09Rik	C	T	16: 49,017,373	S812F	probably benign	Het
Ccdc88b	G	T	19: 6,853,783	S597Y	possibly damaging	Het
Celsr2	T	C	3: 108,413,063	N811S	probably damaging	Het
Cep170	A	T	1: 176,756,091	D907E	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cmss1	T	G	16: 57,311,249		probably null	Het
Cobl	T	C	11: 12,254,945	T579A	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Csrp2	C	T	10: 110,938,740	S172L	probably benign	Het
Fip1l1	T	C	5: 74,557,109	S235P	probably damaging	Het
Gbgt1	T	A	2: 28,498,450		probably benign	Het
Gml2	T	C	15: 74,824,276	I173T	probably benign	Het
Gucy2c	T	A	6: 136,697,999	I1005F	probably damaging	Het
Irak3	T	A	10: 120,176,320	K88*	probably null	Het
Klc1	T	C	12: 111,777,033	Y265H	probably damaging	Het
Lamb1	G	A	12: 31,301,156	V754I	probably benign	Het
Lrguk	A	T	6: 34,043,496	Q58H	probably damaging	Het
Lyst	A	G	13: 13,708,156	D2902G	probably benign	Het
Mtpap	T	A	18: 4,383,244	I207N	probably damaging	Het
Ncdn	A	T	4: 126,750,108		probably null	Het
Nup160	A	G	2: 90,717,587		probably null	Het
Ormdl1	A	G	1: 53,299,159		probably benign	Het
Pde5a	A	G	3: 122,803,055	M432V	probably benign	Het
Pikfyve	T	A	1: 65,215,929		probably benign	Het
Plcb2	A	G	2: 118,715,461	V581A	probably benign	Het
Plpp6	T	A	19: 28,964,843	N281K	probably benign	Het
Pwp1	T	C	10: 85,885,896	I422T	probably benign	Het
Rims1	T	C	1: 22,296,879	N1199S	probably damaging	Het
Sema3c	T	C	5: 17,694,728	L406P	probably damaging	Het
Senp6	C	T	9: 80,126,243	P84L	probably damaging	Het
Setx	A	G	2: 29,176,929	I2361V	probably benign	Het
Slc25a12	C	T	2: 71,333,614	V106M	possibly damaging	Het
Slc3a1	A	G	17: 85,032,846	Y232C	probably damaging	Het
Taf1c	A	T	8: 119,599,090	C678S	probably benign	Het
Tcp11l2	G	T	10: 84,591,140	C156F	probably damaging	Het
Tmem62	A	G	2: 120,999,113	T316A	probably benign	Het
Ulk4	A	G	9: 121,272,982	I10T	probably damaging	Het
Vps54	T	C	11: 21,312,899	I824T	probably damaging	Het
Wdfy3	A	T	5: 101,889,295	V2042E	probably damaging	Het
Wfdc6b	A	T	2: 164,613,859	E36V	probably damaging	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	119745590	missense	probably benign
IGL01624:Atp2c2	APN	8	119757450	missense	probably benign	0.00
IGL02133:Atp2c2	APN	8	119754335	missense	probably benign	0.00
IGL02221:Atp2c2	APN	8	119744334	missense	probably damaging	1.00
IGL02606:Atp2c2	APN	8	119730274	missense	probably benign
IGL02657:Atp2c2	APN	8	119753032	missense	probably damaging	1.00
IGL02839:Atp2c2	APN	8	119749120	missense	possibly damaging	0.85
IGL03122:Atp2c2	APN	8	119742675	missense	possibly damaging	0.77
R0372:Atp2c2	UTSW	8	119757441	missense	probably benign
R0502:Atp2c2	UTSW	8	119734577	missense	probably null	0.99
R0503:Atp2c2	UTSW	8	119734577	missense	probably null	0.99
R0584:Atp2c2	UTSW	8	119738418	missense	probably benign	0.01
R1225:Atp2c2	UTSW	8	119735245	missense	probably damaging	1.00
R1580:Atp2c2	UTSW	8	119752987	missense	probably benign	0.00
R1620:Atp2c2	UTSW	8	119749126	missense	probably benign
R1638:Atp2c2	UTSW	8	119756003	missense	possibly damaging	0.82
R1745:Atp2c2	UTSW	8	119725094	missense	probably benign	0.02
R1746:Atp2c2	UTSW	8	119734443	unclassified	probably benign
R1907:Atp2c2	UTSW	8	119749876	splice site	probably benign
R2104:Atp2c2	UTSW	8	119749845	missense	probably benign
R2151:Atp2c2	UTSW	8	119756102	missense	probably benign
R2152:Atp2c2	UTSW	8	119756102	missense	probably benign
R2154:Atp2c2	UTSW	8	119756102	missense	probably benign
R2207:Atp2c2	UTSW	8	119748309	missense	probably damaging	1.00
R3874:Atp2c2	UTSW	8	119735296	missense	possibly damaging	0.74
R3912:Atp2c2	UTSW	8	119721276	missense	probably damaging	1.00
R4093:Atp2c2	UTSW	8	119749871	critical splice donor site	probably null
R4782:Atp2c2	UTSW	8	119749152	missense	probably damaging	0.97
R4801:Atp2c2	UTSW	8	119747687	missense	probably damaging	1.00
R4973:Atp2c2	UTSW	8	119754263	missense	probably benign	0.00
R5485:Atp2c2	UTSW	8	119753062	critical splice donor site	probably null
R5978:Atp2c2	UTSW	8	119749875	splice site	probably null
R6377:Atp2c2	UTSW	8	119726354	missense	probably benign	0.10
R6613:Atp2c2	UTSW	8	119756021	missense	probably damaging	0.99
R6765:Atp2c2	UTSW	8	119753017	missense	probably damaging	1.00
R6836:Atp2c2	UTSW	8	119734415	missense	probably damaging	1.00
R6963:Atp2c2	UTSW	8	119730267	nonsense	probably null
R7220:Atp2c2	UTSW	8	119745561	missense	probably benign	0.00
R7238:Atp2c2	UTSW	8	119742421	missense	possibly damaging	0.73
R7373:Atp2c2	UTSW	8	119730252	missense	probably benign	0.02
R7438:Atp2c2	UTSW	8	119748197	missense	probably damaging	1.00
R7573:Atp2c2	UTSW	8	119751269	missense	probably damaging	1.00
R7677:Atp2c2	UTSW	8	119748176	missense	probably benign	0.00
R7737:Atp2c2	UTSW	8	119742395	missense	probably damaging	1.00
R7912:Atp2c2	UTSW	8	119730178	missense	possibly damaging	0.81
R8821:Atp2c2	UTSW	8	119749294	splice site	probably null
R8831:Atp2c2	UTSW	8	119749294	splice site	probably null
R9200:Atp2c2	UTSW	8	119748260	nonsense	probably null
R9211:Atp2c2	UTSW	8	119719293	missense	probably benign
R9246:Atp2c2	UTSW	8	119730250	missense	probably damaging	1.00
R9285:Atp2c2	UTSW	8	119738402	missense	probably benign	0.00
RF004:Atp2c2	UTSW	8	119752822	missense	probably damaging	1.00
RF012:Atp2c2	UTSW	8	119745514	missense	possibly damaging	0.91
Z1177:Atp2c2	UTSW	8	119734385	missense	probably benign	0.00

Posted On

2013-03-25