Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Atp2b1'

52176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

98914406-99026143 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98996888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 417 (V417E)

Ref Sequence

ENSEMBL: ENSMUSP00000151598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000219624]

AlphaFold

G5E829

Predicted Effect

probably damaging
Transcript: ENSMUST00000020107
AA Change: V417E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: V417E

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.8e-3	SMART
low complexity region	138	156	N/A	INTRINSIC
Pfam:E1-E2_ATPase	157	312	1.5e-28	PFAM
Pfam:E1-E2_ATPase	348	464	1.4e-13	PFAM
Pfam:HAD	472	806	6.9e-22	PFAM
Pfam:Cation_ATPase	492	614	8.8e-17	PFAM
Pfam:Hydrolase	605	809	5.8e-14	PFAM
Pfam:Hydrolase_3	764	842	7.2e-7	PFAM
transmembrane domain	855	877	N/A	INTRINSIC
Pfam:Cation_ATPase_C	879	1061	1.2e-47	PFAM
low complexity region	1079	1092	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1103	1155	7.5e-31	PFAM
low complexity region	1176	1188	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219090

Predicted Effect

probably damaging
Transcript: ENSMUST00000219624
AA Change: V417E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220358

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Atp2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Atp2b1	APN	10	99015020	missense	possibly damaging	0.84
IGL00972:Atp2b1	APN	10	99015044	missense	probably damaging	1.00
IGL00977:Atp2b1	APN	10	98986975	missense	possibly damaging	0.88
IGL03073:Atp2b1	APN	10	98999851	missense	probably damaging	1.00
IGL03081:Atp2b1	APN	10	98994813	splice site	probably benign
PIT4453001:Atp2b1	UTSW	10	99016978	missense	probably benign	0.00
R0157:Atp2b1	UTSW	10	98999947	missense	probably damaging	0.99
R0200:Atp2b1	UTSW	10	98979814	nonsense	probably null
R0899:Atp2b1	UTSW	10	99017031	critical splice donor site	probably null
R0981:Atp2b1	UTSW	10	99015629	missense	probably damaging	1.00
R1163:Atp2b1	UTSW	10	98979851	missense	possibly damaging	0.91
R1569:Atp2b1	UTSW	10	98987326	missense	probably benign	0.02
R1572:Atp2b1	UTSW	10	98994675	missense	probably benign	0.10
R1574:Atp2b1	UTSW	10	98996948	missense	probably damaging	1.00
R1574:Atp2b1	UTSW	10	98996948	missense	probably damaging	1.00
R1721:Atp2b1	UTSW	10	98996888	missense	probably damaging	1.00
R1782:Atp2b1	UTSW	10	99003201	missense	probably benign	0.01
R1840:Atp2b1	UTSW	10	99022929	missense	probably benign	0.00
R1867:Atp2b1	UTSW	10	98996888	missense	probably damaging	1.00
R1868:Atp2b1	UTSW	10	98996888	missense	probably damaging	1.00
R1944:Atp2b1	UTSW	10	99022931	missense	probably damaging	0.97
R1984:Atp2b1	UTSW	10	99014492	missense	possibly damaging	0.95
R2055:Atp2b1	UTSW	10	99014559	missense	probably damaging	1.00
R2325:Atp2b1	UTSW	10	99018895	nonsense	probably null
R2399:Atp2b1	UTSW	10	98999923	missense	probably benign	0.02
R2876:Atp2b1	UTSW	10	98999745	missense	probably damaging	0.96
R3762:Atp2b1	UTSW	10	99009489	missense	probably damaging	1.00
R3776:Atp2b1	UTSW	10	98979869	frame shift	probably null
R3808:Atp2b1	UTSW	10	99003148	missense	possibly damaging	0.74
R3978:Atp2b1	UTSW	10	98996933	splice site	probably null
R4391:Atp2b1	UTSW	10	99003214	missense	probably benign	0.00
R4825:Atp2b1	UTSW	10	99009564	missense	probably damaging	1.00
R5755:Atp2b1	UTSW	10	99003170	missense	probably damaging	1.00
R5755:Atp2b1	UTSW	10	98994809	critical splice donor site	probably null
R6018:Atp2b1	UTSW	10	99010760	missense	probably damaging	1.00
R6179:Atp2b1	UTSW	10	99022829	missense	probably damaging	1.00
R6455:Atp2b1	UTSW	10	99016980	missense	possibly damaging	0.76
R6496:Atp2b1	UTSW	10	99003337	missense	probably damaging	0.98
R6786:Atp2b1	UTSW	10	99016959	missense	probably damaging	1.00
R6814:Atp2b1	UTSW	10	99023015	missense	possibly damaging	0.87
R7034:Atp2b1	UTSW	10	98987310	missense	probably damaging	1.00
R7036:Atp2b1	UTSW	10	98987310	missense	probably damaging	1.00
R7079:Atp2b1	UTSW	10	99018733	missense	probably benign	0.01
R7216:Atp2b1	UTSW	10	98986977	missense	probably benign	0.30
R7510:Atp2b1	UTSW	10	98993896	missense	probably benign	0.01
R7562:Atp2b1	UTSW	10	99022805	splice site	probably null
R7651:Atp2b1	UTSW	10	99016968	missense	probably damaging	0.99
R7739:Atp2b1	UTSW	10	99001365	missense	probably benign	0.01
R8005:Atp2b1	UTSW	10	98994799	missense	probably damaging	1.00
R8111:Atp2b1	UTSW	10	98996924	missense	possibly damaging	0.95
R8904:Atp2b1	UTSW	10	98969004	missense	possibly damaging	0.62
R9419:Atp2b1	UTSW	10	99001316	missense	possibly damaging	0.56
R9495:Atp2b1	UTSW	10	98999798	missense	probably damaging	0.99
R9506:Atp2b1	UTSW	10	99023000	missense	probably benign	0.01
R9682:Atp2b1	UTSW	10	98979800	missense	possibly damaging	0.90
Z1177:Atp2b1	UTSW	10	99018848	missense	probably damaging	0.99

Posted On

2013-06-21