Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03122:Atp2c2'

410008

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 #

IGL03122

Quality Score

Status

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119742675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 396 (D396E)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095171
AA Change: D396E

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: D396E

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
5430419D17Rik	A	G	7: 131,196,514	Q84R	possibly damaging	Het
Adgrg7	G	A	16: 56,770,362		probably benign	Het
Afap1l1	T	C	18: 61,733,831	D719G	probably benign	Het
Amph	C	T	13: 19,102,943	T274M	probably damaging	Het
Atpaf1	T	C	4: 115,791,278	I164T	probably damaging	Het
Avpr1b	C	A	1: 131,600,519	P260Q	probably damaging	Het
Cacna1a	T	C	8: 84,462,676		probably benign	Het
Cald1	A	G	6: 34,765,028	I449V	probably damaging	Het
Ccdc24	A	G	4: 117,871,745		probably null	Het
Cenpk	C	A	13: 104,242,377	Q134K	probably damaging	Het
Clasp1	A	G	1: 118,510,277	N373D	probably damaging	Het
Col7a1	T	A	9: 108,961,683	S1042T	unknown	Het
Cry2	G	A	2: 92,413,295	R439C	probably damaging	Het
Dip2a	G	T	10: 76,275,046	D1138E	probably benign	Het
Dlgap3	T	C	4: 127,195,225	S205P	possibly damaging	Het
Echdc2	T	A	4: 108,165,580	S18T	probably benign	Het
Efcab2	T	A	1: 178,437,477	V36E	probably damaging	Het
Galk1	A	T	11: 116,010,239		probably null	Het
Hoxc11	A	T	15: 102,954,955	N144Y	probably damaging	Het
Ift140	T	A	17: 25,086,910	C824S	probably damaging	Het
Inf2	A	G	12: 112,604,229	S401G	probably benign	Het
Kcnn1	T	G	8: 70,855,080	D106A	probably damaging	Het
Lama4	A	G	10: 39,067,963	N754S	probably benign	Het
March6	A	G	15: 31,478,293		probably null	Het
Nlrp1b	A	C	11: 71,181,833	C395G	probably benign	Het
Olfr136	T	C	17: 38,335,301	V48A	probably benign	Het
Olfr1500	A	G	19: 13,827,650	S249P	possibly damaging	Het
Olfr194	T	C	16: 59,119,438	M211V	probably benign	Het
Olfr730	A	T	14: 50,187,004	M71K	probably damaging	Het
Scel	A	G	14: 103,599,406	R477G	possibly damaging	Het
Sdk2	A	G	11: 113,842,068	S984P	probably damaging	Het
Slc4a7	C	T	14: 14,782,040		probably benign	Het
Tas2r103	A	G	6: 133,036,909	S65P	probably damaging	Het
Tnip2	T	C	5: 34,503,751	E119G	possibly damaging	Het
Zgrf1	T	A	3: 127,588,133	L310M	possibly damaging	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
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

2016-08-02