Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00966:Atp2c2'

28068

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119745590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 461 (V461A)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: V461A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: V461A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	A	7: 29,537,463		noncoding transcript	Het
5430419D17Rik	T	A	7: 131,243,107	Y692*	probably null	Het
Acad11	A	G	9: 104,126,656	E649G	probably damaging	Het
Adgre1	C	A	17: 57,419,335	T402K	probably benign	Het
Agap3	A	G	5: 24,501,002		probably benign	Het
Amy1	T	C	3: 113,556,040	I494V	probably benign	Het
Arhgef40	G	A	14: 51,991,698		probably null	Het
Bub1	A	G	2: 127,810,663	S595P	probably damaging	Het
Cmya5	C	T	13: 93,097,906	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cux1	A	T	5: 136,311,491		probably benign	Het
Dsg3	T	A	18: 20,523,607	I178N	probably benign	Het
Dus2	T	A	8: 106,025,901		probably null	Het
Enpp1	G	A	10: 24,654,031	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,217,294	T57P	probably benign	Het
Fat3	C	A	9: 15,999,094	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,798,047	T130A	probably benign	Het
Fbxl20	C	T	11: 98,110,974	S99N	probably damaging	Het
Folr2	T	C	7: 101,840,386	E182G	probably damaging	Het
Fras1	A	G	5: 96,555,221	D281G	probably benign	Het
Gm17175	G	T	14: 51,573,069	Q34K	possibly damaging	Het
Gm5592	T	A	7: 41,289,095	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,515,730	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,170,173		probably benign	Het
Heg1	T	C	16: 33,710,607	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,428,994	V3902G	probably damaging	Het
Ift140	A	G	17: 25,018,802	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,708,949	V17G	possibly damaging	Het
Iqca	T	A	1: 90,045,657	I770F	probably benign	Het
Jak3	T	A	8: 71,679,012	C115S	probably benign	Het
Kif18b	A	T	11: 102,914,675	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,966,925	V237D	probably benign	Het
Klhl11	C	T	11: 100,463,205	V597I	possibly damaging	Het
Krt72	T	A	15: 101,780,961	Y312F	probably damaging	Het
Lonp2	T	A	8: 86,633,972	I191N	probably damaging	Het
Npc2	A	T	12: 84,772,845	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,272,788	L413P	probably damaging	Het
Nup133	T	C	8: 123,911,906	N895S	probably damaging	Het
Olfr869	T	C	9: 20,137,235	F40L	probably benign	Het
Ppef1	A	G	X: 160,685,294	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,456	T290I	probably benign	Het
Ptpru	A	T	4: 131,772,616	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,852,992	M117L	probably benign	Het
S1pr5	T	A	9: 21,244,216	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 55,898,006	V160A	probably damaging	Het
Slc6a21	C	T	7: 45,288,244	T653M	probably benign	Het
Stk39	T	A	2: 68,211,958	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,142,501	T313A	probably benign	Het
Tle6	A	T	10: 81,594,458	L287M	probably damaging	Het
Tmc2	A	G	2: 130,264,012	H821R	probably benign	Het
Tmem230	G	T	2: 132,245,977	D26E	probably benign	Het
Tnfaip3	A	G	10: 19,005,137	F394S	probably damaging	Het
Ttn	T	A	2: 76,811,377	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,723,379	N161I	probably benign	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0031:Atp2c2	UTSW	8	119749062	missense	probably benign	0.15
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

2013-04-17