Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Atp2b2'

20794

Institutional Source

Beutler Lab

Gene Symbol

Atp2b2

Ensembl Gene

ENSMUSG00000030302

Gene Name

ATPase, Ca++ transporting, plasma membrane 2

Synonyms

PMCA2, Gena300, wms, D6Abb2e, jog, Tmy

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

113720803-114019574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113770656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 418 (V418I)

Ref Sequence

ENSEMBL: ENSMUSP00000145174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089003] [ENSMUST00000101044] [ENSMUST00000101045] [ENSMUST00000152831] [ENSMUST00000205052]

AlphaFold

Q9R0K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089003
AA Change: V418I

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

SMART Domains

Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: V418I

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	156	444	1.7e-56	PFAM
Pfam:Hydrolase	448	787	3.9e-25	PFAM
Pfam:HAD	451	784	2.4e-16	PFAM
Pfam:Hydrolase_like2	497	593	9.4e-17	PFAM
Pfam:Hydrolase_3	745	820	1.7e-6	PFAM
transmembrane domain	833	855	N/A	INTRINSIC
Pfam:Cation_ATPase_C	857	1039	7.3e-46	PFAM
low complexity region	1057	1070	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1081	1144	1.4e-31	PFAM
low complexity region	1151	1166	N/A	INTRINSIC
low complexity region	1175	1189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101044
AA Change: V463I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: V463I

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	155	307	4.2e-28	PFAM
low complexity region	313	330	N/A	INTRINSIC
low complexity region	337	356	N/A	INTRINSIC
Pfam:E1-E2_ATPase	373	488	1.4e-13	PFAM
Pfam:Hydrolase	493	832	8.1e-16	PFAM
Pfam:HAD	496	829	6.3e-21	PFAM
Pfam:Cation_ATPase	542	638	4.4e-17	PFAM
Pfam:Hydrolase_3	791	865	8.3e-7	PFAM
transmembrane domain	878	900	N/A	INTRINSIC
Pfam:Cation_ATPase_C	902	1084	2.5e-47	PFAM
low complexity region	1102	1115	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1126	1178	2.4e-30	PFAM
low complexity region	1196	1211	N/A	INTRINSIC
low complexity region	1220	1234	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101045
AA Change: V418I

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

SMART Domains

Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: V418I

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	156	444	1.7e-56	PFAM
Pfam:Hydrolase	448	787	3.9e-25	PFAM
Pfam:HAD	451	784	2.4e-16	PFAM
Pfam:Hydrolase_like2	497	593	9.4e-17	PFAM
Pfam:Hydrolase_3	745	820	1.7e-6	PFAM
transmembrane domain	833	855	N/A	INTRINSIC
Pfam:Cation_ATPase_C	857	1039	7.3e-46	PFAM
low complexity region	1057	1070	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1081	1144	1.4e-31	PFAM
low complexity region	1151	1166	N/A	INTRINSIC
low complexity region	1175	1189	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152831
AA Change: V418I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: V418I

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	156	444	6.1e-57	PFAM
Pfam:Hydrolase	448	787	1.4e-25	PFAM
Pfam:HAD	451	784	7.7e-17	PFAM
Pfam:Hydrolase_like2	497	593	4.4e-17	PFAM
Pfam:Hydrolase_3	745	820	4.2e-7	PFAM
transmembrane domain	833	855	N/A	INTRINSIC
Pfam:Cation_ATPase_C	857	1039	2.7e-46	PFAM
low complexity region	1057	1070	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1081	1149	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204957

Predicted Effect

probably damaging
Transcript: ENSMUST00000205052
AA Change: V418I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: V418I

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	155	310	1.9e-28	PFAM
Pfam:E1-E2_ATPase	328	443	1.1e-13	PFAM
Pfam:HAD	451	780	2.7e-19	PFAM
Pfam:Cation_ATPase	497	593	5.8e-17	PFAM
Pfam:Hydrolase	576	783	2e-8	PFAM
Pfam:Hydrolase_3	711	816	2.3e-7	PFAM
transmembrane domain	829	851	N/A	INTRINSIC
Pfam:Cation_ATPase_C	853	1035	2.5e-47	PFAM
low complexity region	1053	1066	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1077	1129	2.6e-30	PFAM
low complexity region	1147	1162	N/A	INTRINSIC
low complexity region	1171	1185	N/A	INTRINSIC

Meta Mutation Damage Score

0.2364

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

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 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,202,066 (GRCm39)	V152E	probably damaging	Het
Abca5	T	G	11: 110,167,331 (GRCm39)	E1495A	probably damaging	Het
Abcc12	G	A	8: 87,261,627 (GRCm39)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,223,247 (GRCm39)	T608S	probably benign	Het
Angel2	G	A	1: 190,673,187 (GRCm39)	D255N	probably benign	Het
Apob	T	A	12: 8,039,113 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,715,603 (GRCm39)	R1349S	probably damaging	Het
Birc6	C	A	17: 74,930,741 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,519 (GRCm39)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,987,266 (GRCm39)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,741,273 (GRCm39)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,657 (GRCm39)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,908,914 (GRCm39)	I1176V	probably benign	Het
Dnah17	T	C	11: 117,949,132 (GRCm39)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,252,520 (GRCm39)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,291,555 (GRCm39)	Y261H	probably benign	Het
Dock2	T	C	11: 34,579,392 (GRCm39)		probably benign	Het
Dyrk3	A	T	1: 131,057,576 (GRCm39)	V199E	probably damaging	Het
F2r	G	T	13: 95,740,994 (GRCm39)	C180*	probably null	Het
F5	A	G	1: 164,012,483 (GRCm39)	S466G	probably benign	Het
Fbn2	A	T	18: 58,235,445 (GRCm39)	C677*	probably null	Het
Fbxo41	A	G	6: 85,454,890 (GRCm39)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,667,406 (GRCm39)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Foxa2	A	G	2: 147,885,481 (GRCm39)	S270P	probably damaging	Het
Fxyd7	C	T	7: 30,746,793 (GRCm39)		probably null	Het
Gm5225	A	G	17: 24,243,032 (GRCm39)	D67G	probably benign	Het
Grik3	G	A	4: 125,564,349 (GRCm39)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Haus1	T	A	18: 77,849,770 (GRCm39)	K130*	probably null	Het
Heg1	A	G	16: 33,556,028 (GRCm39)		probably benign	Het
Hormad2	A	G	11: 4,362,206 (GRCm39)		probably benign	Het
Hsd17b3	G	A	13: 64,206,403 (GRCm39)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,108 (GRCm39)	F374S	probably damaging	Het
Itch	A	G	2: 155,059,903 (GRCm39)		probably benign	Het
Jade2	A	T	11: 51,722,136 (GRCm39)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,642,251 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,083,918 (GRCm39)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,220,724 (GRCm39)	R658G	probably damaging	Het
Mcph1	C	T	8: 18,838,264 (GRCm39)	L729F	probably benign	Het
Me1	A	T	9: 86,536,720 (GRCm39)	N118K	probably benign	Het
Med13	A	G	11: 86,210,723 (GRCm39)	L473S	probably damaging	Het
Mgam	T	A	6: 40,635,921 (GRCm39)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,356,015 (GRCm39)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,135,980 (GRCm39)	D310G	probably benign	Het
Mtmr7	A	T	8: 41,034,447 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,451,514 (GRCm39)		probably benign	Het
Mus81	G	T	19: 5,536,552 (GRCm39)	A138D	probably damaging	Het
Myom2	A	T	8: 15,167,633 (GRCm39)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,400,990 (GRCm39)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,108,818 (GRCm39)	K762N	probably benign	Het
Nrap	T	C	19: 56,343,978 (GRCm39)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,558,846 (GRCm39)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,739,860 (GRCm39)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,230,160 (GRCm39)	I250N	probably damaging	Het
Padi2	T	C	4: 140,653,550 (GRCm39)	V180A	probably benign	Het
Papss2	C	T	19: 32,615,768 (GRCm39)	R167*	probably null	Het
Pcbp2	T	C	15: 102,382,670 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,992,706 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,514,094 (GRCm39)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,701,746 (GRCm39)	Q1397*	probably null	Het
Plce1	T	C	19: 38,710,265 (GRCm39)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,694,625 (GRCm39)	V160G	probably damaging	Het
Prss12	T	C	3: 123,276,423 (GRCm39)	C351R	probably damaging	Het
Qprt	A	T	7: 126,708,269 (GRCm39)	L54Q	probably damaging	Het
Raf1	C	T	6: 115,603,344 (GRCm39)	S165N	probably damaging	Het
Rere	A	G	4: 150,701,433 (GRCm39)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,630,258 (GRCm39)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,724,807 (GRCm39)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,633,510 (GRCm39)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,171,155 (GRCm39)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,793,017 (GRCm39)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,252,721 (GRCm39)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,615,114 (GRCm39)	T340S	probably benign	Het
Smarcc1	A	G	9: 109,976,172 (GRCm39)	N153S	possibly damaging	Het
Snx1	C	A	9: 65,995,821 (GRCm39)	E516*	probably null	Het
Sptlc2	T	C	12: 87,403,454 (GRCm39)	D115G	probably benign	Het
Stard9	A	G	2: 120,464,736 (GRCm39)	N67S	probably damaging	Het
Styxl2	A	C	1: 165,927,270 (GRCm39)	S781A	probably benign	Het
Swap70	G	A	7: 109,872,489 (GRCm39)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,568,284 (GRCm39)	K691E	probably benign	Het
Tmco4	T	C	4: 138,781,231 (GRCm39)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm39)	S290P	probably benign	Het
Top2a	T	C	11: 98,894,416 (GRCm39)	T972A	probably benign	Het
Tpr	T	A	1: 150,285,898 (GRCm39)	S527R	probably damaging	Het
Traf2	T	C	2: 25,409,621 (GRCm39)	D443G	probably damaging	Het
Trim40	A	T	17: 37,194,039 (GRCm39)		probably null	Het
Trim42	A	T	9: 97,245,456 (GRCm39)	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,825,054 (GRCm39)	V78M	probably damaging	Het
Vav1	C	T	17: 57,603,039 (GRCm39)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,301 (GRCm39)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,707,009 (GRCm39)		probably null	Het
Zfp799	A	G	17: 33,040,009 (GRCm39)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,825,203 (GRCm39)		probably benign	Het

Other mutations in Atp2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Atp2b2	APN	6	113,782,476 (GRCm39)	missense	possibly damaging	0.69
IGL01140:Atp2b2	APN	6	113,766,932 (GRCm39)	missense	possibly damaging	0.94
IGL02065:Atp2b2	APN	6	113,790,828 (GRCm39)	missense	probably damaging	1.00
IGL02267:Atp2b2	APN	6	113,770,691 (GRCm39)	missense	probably damaging	1.00
IGL02383:Atp2b2	APN	6	113,790,903 (GRCm39)	missense	probably damaging	0.99
IGL02498:Atp2b2	APN	6	113,770,815 (GRCm39)	missense	probably damaging	0.99
IGL02631:Atp2b2	APN	6	113,725,506 (GRCm39)	missense	probably damaging	1.00
IGL03028:Atp2b2	APN	6	113,736,103 (GRCm39)	missense	probably damaging	0.99
IGL03221:Atp2b2	APN	6	113,737,820 (GRCm39)	splice site	probably benign
IGL03290:Atp2b2	APN	6	113,770,715 (GRCm39)	missense	probably damaging	1.00
johan	UTSW	6	113,750,349 (GRCm39)	missense	probably damaging	1.00
lohan	UTSW	6	113,737,611 (GRCm39)	missense	probably damaging	1.00
IGL02799:Atp2b2	UTSW	6	113,739,813 (GRCm39)	nonsense	probably null
R0131:Atp2b2	UTSW	6	113,770,743 (GRCm39)	missense	probably damaging	1.00
R0131:Atp2b2	UTSW	6	113,770,743 (GRCm39)	missense	probably damaging	1.00
R0132:Atp2b2	UTSW	6	113,770,743 (GRCm39)	missense	probably damaging	1.00
R0195:Atp2b2	UTSW	6	113,770,835 (GRCm39)	missense	probably benign	0.07
R0421:Atp2b2	UTSW	6	113,790,849 (GRCm39)	missense	probably damaging	1.00
R0791:Atp2b2	UTSW	6	113,750,349 (GRCm39)	missense	probably damaging	1.00
R0792:Atp2b2	UTSW	6	113,750,349 (GRCm39)	missense	probably damaging	1.00
R1033:Atp2b2	UTSW	6	113,770,849 (GRCm39)	splice site	probably null
R1248:Atp2b2	UTSW	6	113,794,153 (GRCm39)	missense	probably damaging	1.00
R1524:Atp2b2	UTSW	6	113,751,162 (GRCm39)	splice site	probably benign
R1809:Atp2b2	UTSW	6	113,780,704 (GRCm39)	intron	probably benign
R1829:Atp2b2	UTSW	6	113,750,329 (GRCm39)	missense	probably damaging	1.00
R1854:Atp2b2	UTSW	6	113,819,244 (GRCm39)	missense	probably damaging	1.00
R2127:Atp2b2	UTSW	6	113,737,611 (GRCm39)	missense	probably damaging	1.00
R2138:Atp2b2	UTSW	6	113,773,268 (GRCm39)	missense	probably benign	0.21
R2351:Atp2b2	UTSW	6	113,766,718 (GRCm39)	missense	possibly damaging	0.91
R3923:Atp2b2	UTSW	6	113,774,069 (GRCm39)	critical splice donor site	probably null
R3951:Atp2b2	UTSW	6	113,737,792 (GRCm39)	missense	possibly damaging	0.51
R4178:Atp2b2	UTSW	6	113,770,679 (GRCm39)	missense	probably damaging	1.00
R4353:Atp2b2	UTSW	6	113,742,745 (GRCm39)	missense	probably benign	0.01
R4578:Atp2b2	UTSW	6	113,737,672 (GRCm39)	missense	probably damaging	1.00
R4797:Atp2b2	UTSW	6	113,766,847 (GRCm39)	missense	possibly damaging	0.92
R4884:Atp2b2	UTSW	6	113,819,147 (GRCm39)	missense	possibly damaging	0.65
R4976:Atp2b2	UTSW	6	113,736,122 (GRCm39)	missense	probably damaging	1.00
R5273:Atp2b2	UTSW	6	113,736,193 (GRCm39)	missense	probably damaging	1.00
R5350:Atp2b2	UTSW	6	113,736,199 (GRCm39)	missense	probably damaging	0.99
R5414:Atp2b2	UTSW	6	113,819,102 (GRCm39)	missense	probably damaging	1.00
R5560:Atp2b2	UTSW	6	113,751,319 (GRCm39)	missense	possibly damaging	0.90
R5589:Atp2b2	UTSW	6	113,751,400 (GRCm39)	missense	possibly damaging	0.94
R5790:Atp2b2	UTSW	6	113,736,270 (GRCm39)	missense	probably damaging	0.97
R6001:Atp2b2	UTSW	6	113,770,728 (GRCm39)	missense	probably damaging	1.00
R6127:Atp2b2	UTSW	6	113,790,838 (GRCm39)	missense	probably damaging	1.00
R6331:Atp2b2	UTSW	6	113,774,092 (GRCm39)	missense	probably benign	0.01
R6925:Atp2b2	UTSW	6	113,737,681 (GRCm39)	missense	probably damaging	1.00
R7231:Atp2b2	UTSW	6	113,742,693 (GRCm39)	missense	possibly damaging	0.89
R8219:Atp2b2	UTSW	6	113,770,811 (GRCm39)	missense	probably damaging	1.00
R8233:Atp2b2	UTSW	6	113,742,680 (GRCm39)	critical splice donor site	probably null
R8286:Atp2b2	UTSW	6	113,819,275 (GRCm39)	missense	possibly damaging	0.64
R8369:Atp2b2	UTSW	6	113,790,747 (GRCm39)	critical splice donor site	probably null
R8444:Atp2b2	UTSW	6	113,770,772 (GRCm39)	missense	probably benign	0.18
R8942:Atp2b2	UTSW	6	113,790,991 (GRCm39)	missense	probably benign	0.00
R8953:Atp2b2	UTSW	6	113,737,630 (GRCm39)	missense	possibly damaging	0.82
R8977:Atp2b2	UTSW	6	113,750,325 (GRCm39)	missense	probably damaging	1.00
R9051:Atp2b2	UTSW	6	113,740,566 (GRCm39)	missense	probably damaging	1.00
R9399:Atp2b2	UTSW	6	113,780,713 (GRCm39)	missense	probably benign
R9648:Atp2b2	UTSW	6	113,780,707 (GRCm39)	critical splice donor site	probably null
X0020:Atp2b2	UTSW	6	113,782,461 (GRCm39)	missense	probably damaging	1.00
X0020:Atp2b2	UTSW	6	113,782,460 (GRCm39)	missense	probably damaging	1.00
Z1088:Atp2b2	UTSW	6	113,819,267 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTCACACATTTCGTAGCCCATC -3'
(R):5'- ACTGAGGCTCCCTGAGAAGCAAAG -3'

Sequencing Primer
(F):5'- CATTTCGTAGCCCATCTACAAAG -3'
(R):5'- ctgagaagcaaagcaaaggac -3'

Posted On

2013-04-11