Mutagenetix > Incidental Mutation

Incidental Mutation 'R6925:Atp2b2'

541082

Institutional Source

Beutler Lab

Gene Symbol

Atp2b2

Ensembl Gene

ENSMUSG00000030302

Gene Name

ATPase, Ca++ transporting, plasma membrane 2

Synonyms

PMCA2, D6Abb2e, wms, jog, Gena300, Tmy

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113743831-114042613 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113760720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 902 (I902F)

Ref Sequence

ENSEMBL: ENSMUSP00000098606 (fasta)

Gene Model

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

AlphaFold

Q9R0K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089003
AA Change: I902F

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

SMART Domains

Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: I902F

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: ENSMUST00000101044
AA Change: I947F

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

SMART Domains

Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: I947F

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: I902F

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

SMART Domains

Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: I902F

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: I902F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: I902F

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

probably damaging
Transcript: ENSMUST00000205052
AA Change: I898F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: I898F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,222,707	Q177R	possibly damaging	Het
Acat1	A	T	9: 53,592,029	V170E	probably benign	Het
Cacna1d	A	G	14: 30,051,637	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,690,749	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,598,210	V250E	probably damaging	Het
Cct7	A	G	6: 85,459,182	N25S	probably damaging	Het
Cep19	G	C	16: 32,103,942	G9R	probably damaging	Het
Ces5a	A	T	8: 93,523,057		probably null	Het
Chd1l	T	G	3: 97,582,826	E471A	probably damaging	Het
Chd6	A	G	2: 161,013,127	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,395,266	T1194P	probably benign	Het
Col6a3	T	A	1: 90,816,002	M208L	probably benign	Het
Coro7	A	T	16: 4,628,674		probably null	Het
Csrnp2	T	C	15: 100,481,958	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,513,195	V64E	probably damaging	Het
Ddr2	T	C	1: 169,998,132	K300E	probably benign	Het
Ddx56	T	C	11: 6,263,980	E393G	probably damaging	Het
Diaph1	A	C	18: 37,853,679	Y1084*	probably null	Het
Disp1	A	T	1: 183,086,478	F1459L	probably benign	Het
Dnajc8	G	A	4: 132,544,113	A80T	probably damaging	Het
Elfn1	T	A	5: 139,971,685	M148K	probably benign	Het
Emcn	T	A	3: 137,419,002	I154N	probably damaging	Het
Enah	C	G	1: 181,905,898		probably null	Het
Enah	T	A	1: 181,905,899		probably null	Het
Ep300	C	A	15: 81,649,981	Q2080K	probably benign	Het
Epha2	T	A	4: 141,308,757	M168K	probably benign	Het
Ercc6	T	A	14: 32,562,608	I776N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat4	G	T	3: 38,996,204		probably null	Het
G3bp1	A	G	11: 55,497,960	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,369,390	F385L	probably benign	Het
Gm5800	T	C	14: 51,713,700	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,778,245	F18S	unknown	Het
Ighv3-8	A	T	12: 114,322,330	C131S	probably benign	Het
Il23r	T	G	6: 67,423,493	T618P	probably damaging	Het
Il31ra	G	A	13: 112,527,529	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,839,913	D474G	unknown	Het
Klc4	T	C	17: 46,636,229	T407A	possibly damaging	Het
Klra5	C	T	6: 129,911,457	S2N	probably benign	Het
Krt10	T	C	11: 99,388,851	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,523,278	M1K	probably null	Het
Lgals1	A	C	15: 78,928,040	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,466,346	S308G	probably benign	Het
Lrp1	G	A	10: 127,556,988	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,102,536	H73N	probably benign	Het
Mcpt1	C	A	14: 56,019,065	T86K	probably damaging	Het
Megf6	A	T	4: 154,254,587	D527V	probably damaging	Het
Mical3	A	T	6: 120,959,390	S1392T	probably benign	Het
Mmp2	A	T	8: 92,839,382	D437V	probably damaging	Het
Mob4	T	A	1: 55,152,722	Y166*	probably null	Het
Mrap2	G	A	9: 87,182,474	M89I	possibly damaging	Het
Mug1	G	A	6: 121,881,787	A1155T	probably damaging	Het
Myh2	G	T	11: 67,193,218	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,119,322	D1028G	probably benign	Het
Ngef	T	G	1: 87,503,263		probably null	Het
Nlrp1a	A	T	11: 71,092,513	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553	R819C	probably damaging	Het
Nsd2	A	T	5: 33,879,110	D646V	probably damaging	Het
Nsun7	A	G	5: 66,277,072	H252R	probably damaging	Het
Olfr267	A	T	4: 58,785,647	I25N	possibly damaging	Het
Olfr447	T	A	6: 42,911,857	C111*	probably null	Het
Olfr642	C	T	7: 104,049,740	V205I	probably benign	Het
Olfr951	A	T	9: 39,393,860	Q20L	probably benign	Het
Olfr951	G	T	9: 39,393,861	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,670,585	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,813,747	E617G	probably damaging	Het
Pdc	T	C	1: 150,333,180	I138T	probably damaging	Het
Phc2	T	A	4: 128,748,134	S750T	probably damaging	Het
Pkd2l1	T	A	19: 44,191,508	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,406,598	R71*	probably null	Het
Prag1	C	A	8: 36,103,894	L544M	probably damaging	Het
Prkg2	A	G	5: 98,966,510		probably null	Het
Psd2	G	A	18: 35,979,711	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,152,972	S600T	probably damaging	Het
Rbms1	T	G	2: 60,762,304	T222P	probably benign	Het
Slfn8	A	T	11: 83,013,417	Y382*	probably null	Het
Socs4	T	A	14: 47,289,738	C43*	probably null	Het
Sorl1	T	A	9: 42,033,626	T868S	probably damaging	Het
St6gal1	A	G	16: 23,356,213	Y267C	probably damaging	Het
Syne1	A	G	10: 5,126,682	V6879A	probably benign	Het
Syne2	C	A	12: 75,854,132	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,928,021	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,487,426	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,487,436	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,704,553	E140G	probably damaging	Het
Wapl	T	C	14: 34,677,363	S130P	probably benign	Het
Zeb2	T	A	2: 44,994,529	K982M	probably damaging	Het
Zfhx3	C	G	8: 108,956,821	H3631D	unknown	Het
Zfp719	T	C	7: 43,590,706	S573P	probably damaging	Het
Zfp979	A	T	4: 147,613,542	C237S	possibly damaging	Het

Other mutations in Atp2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Atp2b2	APN	6	113805515	missense	possibly damaging	0.69
IGL01140:Atp2b2	APN	6	113789971	missense	possibly damaging	0.94
IGL02065:Atp2b2	APN	6	113813867	missense	probably damaging	1.00
IGL02267:Atp2b2	APN	6	113793730	missense	probably damaging	1.00
IGL02383:Atp2b2	APN	6	113813942	missense	probably damaging	0.99
IGL02498:Atp2b2	APN	6	113793854	missense	probably damaging	0.99
IGL02631:Atp2b2	APN	6	113748545	missense	probably damaging	1.00
IGL03028:Atp2b2	APN	6	113759142	missense	probably damaging	0.99
IGL03221:Atp2b2	APN	6	113760859	splice site	probably benign
IGL03290:Atp2b2	APN	6	113793754	missense	probably damaging	1.00
johan	UTSW	6	113773388	missense	probably damaging	1.00
lohan	UTSW	6	113760650	missense	probably damaging	1.00
IGL02799:Atp2b2	UTSW	6	113762852	nonsense	probably null
R0116:Atp2b2	UTSW	6	113793695	missense	probably damaging	1.00
R0131:Atp2b2	UTSW	6	113793782	missense	probably damaging	1.00
R0131:Atp2b2	UTSW	6	113793782	missense	probably damaging	1.00
R0132:Atp2b2	UTSW	6	113793782	missense	probably damaging	1.00
R0195:Atp2b2	UTSW	6	113793874	missense	probably benign	0.07
R0421:Atp2b2	UTSW	6	113813888	missense	probably damaging	1.00
R0791:Atp2b2	UTSW	6	113773388	missense	probably damaging	1.00
R0792:Atp2b2	UTSW	6	113773388	missense	probably damaging	1.00
R1033:Atp2b2	UTSW	6	113793888	splice site	probably null
R1248:Atp2b2	UTSW	6	113817192	missense	probably damaging	1.00
R1524:Atp2b2	UTSW	6	113774201	splice site	probably benign
R1809:Atp2b2	UTSW	6	113803743	intron	probably benign
R1829:Atp2b2	UTSW	6	113773368	missense	probably damaging	1.00
R1854:Atp2b2	UTSW	6	113842283	missense	probably damaging	1.00
R2127:Atp2b2	UTSW	6	113760650	missense	probably damaging	1.00
R2138:Atp2b2	UTSW	6	113796307	missense	probably benign	0.21
R2351:Atp2b2	UTSW	6	113789757	missense	possibly damaging	0.91
R3923:Atp2b2	UTSW	6	113797108	critical splice donor site	probably null
R3951:Atp2b2	UTSW	6	113760831	missense	possibly damaging	0.51
R4178:Atp2b2	UTSW	6	113793718	missense	probably damaging	1.00
R4353:Atp2b2	UTSW	6	113765784	missense	probably benign	0.01
R4578:Atp2b2	UTSW	6	113760711	missense	probably damaging	1.00
R4797:Atp2b2	UTSW	6	113789886	missense	possibly damaging	0.92
R4884:Atp2b2	UTSW	6	113842186	missense	possibly damaging	0.65
R4976:Atp2b2	UTSW	6	113759161	missense	probably damaging	1.00
R5273:Atp2b2	UTSW	6	113759232	missense	probably damaging	1.00
R5350:Atp2b2	UTSW	6	113759238	missense	probably damaging	0.99
R5414:Atp2b2	UTSW	6	113842141	missense	probably damaging	1.00
R5560:Atp2b2	UTSW	6	113774358	missense	possibly damaging	0.90
R5589:Atp2b2	UTSW	6	113774439	missense	possibly damaging	0.94
R5790:Atp2b2	UTSW	6	113759309	missense	probably damaging	0.97
R6001:Atp2b2	UTSW	6	113793767	missense	probably damaging	1.00
R6127:Atp2b2	UTSW	6	113813877	missense	probably damaging	1.00
R6331:Atp2b2	UTSW	6	113797131	missense	probably benign	0.01
R7231:Atp2b2	UTSW	6	113765732	missense	possibly damaging	0.89
R8219:Atp2b2	UTSW	6	113793850	missense	probably damaging	1.00
R8233:Atp2b2	UTSW	6	113765719	critical splice donor site	probably null
R8286:Atp2b2	UTSW	6	113842314	missense	possibly damaging	0.64
R8369:Atp2b2	UTSW	6	113813786	critical splice donor site	probably null
R8444:Atp2b2	UTSW	6	113793811	missense	probably benign	0.18
R8942:Atp2b2	UTSW	6	113814030	missense	probably benign	0.00
R8953:Atp2b2	UTSW	6	113760669	missense	possibly damaging	0.82
R8977:Atp2b2	UTSW	6	113773364	missense	probably damaging	1.00
R9051:Atp2b2	UTSW	6	113763605	missense	probably damaging	1.00
R9399:Atp2b2	UTSW	6	113803752	missense	probably benign
R9648:Atp2b2	UTSW	6	113803746	critical splice donor site	probably null
X0020:Atp2b2	UTSW	6	113805499	missense	probably damaging	1.00
X0020:Atp2b2	UTSW	6	113805500	missense	probably damaging	1.00
Z1088:Atp2b2	UTSW	6	113842306	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACATGTGTAAAGCCAGCC -3'
(R):5'- TAGTAGGAACCTGCTGAGACC -3'

Sequencing Primer
(F):5'- AAAGCCAGCCGTTGTTGG -3'
(R):5'- AGCGGGTCCATCCTGTACTC -3'

Posted On

2018-11-28