Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02221:Atp2c2'

285151

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 #

IGL02221

Quality Score

Status

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119744334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 407 (Y407C)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095171
AA Change: Y407C

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

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: Y407C

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,356,948	I24M	probably benign	Het
Ano5	G	A	7: 51,570,323	D390N	probably damaging	Het
B430306N03Rik	T	C	17: 48,324,195		probably benign	Het
BC052040	T	C	2: 115,639,066		probably null	Het
Cd44	A	T	2: 102,846,513	M269K	probably benign	Het
Cpped1	G	T	16: 11,828,528	P144Q	probably damaging	Het
Epas1	C	T	17: 86,827,847	T636M	possibly damaging	Het
Hsd17b3	G	T	13: 64,089,051	H26Q	probably benign	Het
Ighv8-9	A	G	12: 115,468,327		probably benign	Het
Itih1	A	T	14: 30,929,587	C883S	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lcn3	A	T	2: 25,766,160	M76L	probably benign	Het
Lin9	A	T	1: 180,650,834	M53L	probably benign	Het
Mast1	A	G	8: 84,918,755	V687A	possibly damaging	Het
Mmd2	C	T	5: 142,569,457		probably benign	Het
Mroh2b	T	C	15: 4,923,641	L619S	probably damaging	Het
Ngef	T	C	1: 87,540,696	T114A	probably benign	Het
Nlrp12	T	C	7: 3,240,967	D305G	possibly damaging	Het
Nlrp1a	A	T	11: 71,123,118	F435L	possibly damaging	Het
Nup188	A	G	2: 30,330,641	I909V	possibly damaging	Het
Osbpl3	A	C	6: 50,327,367		probably benign	Het
P2ry2	G	T	7: 100,998,114	P328H	possibly damaging	Het
Prex2	A	T	1: 11,061,345	N46I	probably benign	Het
Prss42	T	C	9: 110,803,175	F325L	possibly damaging	Het
Reep5	A	G	18: 34,349,797	F120L	probably damaging	Het
Scg3	G	T	9: 75,683,657	F23L	probably damaging	Het
Scx	A	G	15: 76,459,095	D200G	probably benign	Het
Setd5	C	T	6: 113,121,170		probably benign	Het
Tcf4	T	A	18: 69,347,367	S23R	probably damaging	Het
Ttc4	A	G	4: 106,676,596		probably null	Het
Tyro3	T	A	2: 119,812,590	C627S	probably benign	Het
Yipf2	T	C	9: 21,591,468	N106S	possibly damaging	Het
Zfp619	T	C	7: 39,536,910	L788P	probably benign	Het
Zfp831	G	A	2: 174,643,726	V65I	probably benign	Het
Zgpat	T	C	2: 181,378,858	S275P	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
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

2015-04-16