Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01624:Atp2c2'

92644

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 #

IGL01624

Quality Score

Status

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119757450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 933 (R933S)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049156] [ENSMUST00000095171]

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000049156

SMART Domains

Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105

Domain	Start	End	E-Value	Type
TLDc	241	410	4.36e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: R933S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: R933S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,193,086	T18I	probably damaging	Het
Acod1	A	G	14: 103,055,233	T398A	probably benign	Het
Adgrl2	A	G	3: 148,836,527	V853A	probably damaging	Het
Ankhd1	T	C	18: 36,658,013	S2488P	probably damaging	Het
Ankrd28	T	C	14: 31,710,857	I578V	probably benign	Het
Cyp26a1	A	T	19: 37,698,333	I78F	possibly damaging	Het
Gck	A	G	11: 5,903,106	V338A	possibly damaging	Het
Ints6	A	T	14: 62,696,871	M729K	probably benign	Het
Kank2	C	A	9: 21,780,380	G500W	probably damaging	Het
Kansl1	G	A	11: 104,424,552	T220I	probably benign	Het
Lgi4	T	C	7: 31,067,688	L380P	probably damaging	Het
Lhx9	G	T	1: 138,832,783	Y276*	probably null	Het
Lipm	T	A	19: 34,121,145	Y340N	probably damaging	Het
Mlxip	A	G	5: 123,395,329	T134A	probably benign	Het
Nwd2	A	T	5: 63,806,810	I1246F	probably damaging	Het
Olfr1099	A	G	2: 86,959,230	V76A	probably benign	Het
Olfr114	A	T	17: 37,589,925	W143R	probably benign	Het
Olfr822	T	A	10: 130,074,650	L80H	probably damaging	Het
Rbm44	T	A	1: 91,156,658	N601K	probably damaging	Het
Rgs4	T	A	1: 169,744,478	Y84F	probably benign	Het
Scn7a	T	C	2: 66,751,925	T131A	probably benign	Het
Slc17a2	A	G	13: 23,814,986	I121V	probably benign	Het
Slitrk5	T	A	14: 111,681,094	Y717N	probably damaging	Het
Sox6	A	G	7: 115,476,968	S770P	probably damaging	Het
Spata31	T	C	13: 64,921,585	W516R	probably damaging	Het
Sugt1	A	G	14: 79,596,790	N77S	probably benign	Het
Sumf1	C	T	6: 108,153,201	D186N	probably damaging	Het
Syde2	T	C	3: 146,007,035	L709S	probably damaging	Het
Tcp1	T	A	17: 12,919,925	I163K	probably benign	Het
Upf2	A	T	2: 6,034,179	E287D	probably benign	Het
Usp17lb	A	G	7: 104,842,513		probably benign	Het
Vmn2r10	G	A	5: 109,006,246	S64F	possibly damaging	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	119745590	missense	probably benign
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

2013-12-09