Incidental Mutation 'R1868:Atp2b1'
ID 208970
Institutional Source Beutler Lab
Gene Symbol Atp2b1
Ensembl Gene ENSMUSG00000019943
Gene Name ATPase, Ca++ transporting, plasma membrane 1
Synonyms PMCA1, 2810442I22Rik, E130111D10Rik
MMRRC Submission 039890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1868 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 98750268-98862005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98832750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 417 (V417A)
Ref Sequence ENSEMBL: ENSMUSP00000151598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000219624]
AlphaFold G5E829
Predicted Effect possibly damaging
Transcript: ENSMUST00000020107
AA Change: V417A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: V417A

DomainStartEndE-ValueType
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: V417A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220358
Meta Mutation Damage Score 0.2288 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 97% (115/118)
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
A630073D07Rik C T 6: 132,603,457 (GRCm39) E100K unknown Het
Abcc3 T G 11: 94,254,889 (GRCm39) D638A probably benign Het
Acadm T C 3: 153,635,889 (GRCm39) I272V probably benign Het
Adam2 G A 14: 66,315,107 (GRCm39) T22I probably damaging Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,537,135 (GRCm39) I182K probably benign Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Brca1 T A 11: 101,388,839 (GRCm39) H1675L probably benign Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Btd G T 14: 31,389,266 (GRCm39) G329V probably benign Het
Capsl T A 15: 9,461,916 (GRCm39) L104* probably null Het
Cbx1 T C 11: 96,693,554 (GRCm39) S107P probably benign Het
Cd207 G T 6: 83,648,683 (GRCm39) Y326* probably null Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Chsy3 A G 18: 59,309,560 (GRCm39) probably null Het
Cntrl T A 2: 35,019,827 (GRCm39) H551Q probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cybrd1 T A 2: 70,967,978 (GRCm39) F183Y possibly damaging Het
D5Ertd579e G A 5: 36,773,771 (GRCm39) S208L probably damaging Het
Dlg2 A T 7: 92,036,160 (GRCm39) K719* probably null Het
Dppa1 A T 11: 46,516,393 (GRCm39) probably null Het
Dse A G 10: 34,029,284 (GRCm39) V602A possibly damaging Het
Elapor2 T A 5: 9,529,251 (GRCm39) I1028K probably damaging Het
Elmo1 C T 13: 20,773,823 (GRCm39) A611V possibly damaging Het
Ets2 T C 16: 95,516,118 (GRCm39) S233P probably benign Het
Fchsd2 G A 7: 100,899,645 (GRCm39) probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Fkbp4 T C 6: 128,409,453 (GRCm39) R402G probably benign Het
G2e3 T A 12: 51,400,412 (GRCm39) D21E probably benign Het
Gask1a A G 9: 121,794,493 (GRCm39) T216A possibly damaging Het
Gck A T 11: 5,852,165 (GRCm39) N391K probably damaging Het
Gm11077 T A 6: 140,675,017 (GRCm39) I3N unknown Het
Gm6793 T C 8: 112,741,088 (GRCm39) M185V probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hat1 T A 2: 71,251,627 (GRCm39) Y225* probably null Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Ido2 C A 8: 25,043,776 (GRCm39) M92I possibly damaging Het
Ifne T C 4: 88,797,908 (GRCm39) E170G probably damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Jakmip3 A G 7: 138,609,316 (GRCm39) K140R probably benign Het
Kcnip3 T C 2: 127,301,263 (GRCm39) E237G probably damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lars1 T A 18: 42,347,902 (GRCm39) I974F probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lhfpl4 T A 6: 113,153,394 (GRCm39) D125V probably benign Het
Luc7l G A 17: 26,499,030 (GRCm39) probably benign Het
Mei1 T C 15: 82,009,154 (GRCm39) L833P probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Muc4 C T 16: 32,576,715 (GRCm39) R2072C unknown Het
Myh3 A G 11: 66,975,852 (GRCm39) K295E probably benign Het
Ndufaf5 A G 2: 140,023,509 (GRCm39) I115V probably benign Het
Neb T C 2: 52,216,756 (GRCm39) K140E probably damaging Het
Niban1 A G 1: 151,517,302 (GRCm39) S104G possibly damaging Het
Npas2 A G 1: 39,339,759 (GRCm39) D103G probably benign Het
Ntrk3 A T 7: 77,842,352 (GRCm39) H825Q possibly damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Or4c108 T C 2: 88,804,128 (GRCm39) T36A possibly damaging Het
Or5g23 T A 2: 85,438,409 (GRCm39) I282F probably damaging Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or8c8 A G 9: 38,164,986 (GRCm39) E91G probably damaging Het
Orc4 A G 2: 48,800,305 (GRCm39) M281T probably benign Het
Osbpl5 C A 7: 143,269,510 (GRCm39) R22L probably damaging Het
Otos A G 1: 92,572,185 (GRCm39) F47S probably damaging Het
Parp11 A G 6: 127,447,740 (GRCm39) T25A probably damaging Het
Pcdhb9 A C 18: 37,535,137 (GRCm39) D377A probably damaging Het
Pdgfra C T 5: 75,331,534 (GRCm39) S348L probably benign Het
Pdlim5 C A 3: 142,012,060 (GRCm39) probably null Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Piezo2 T C 18: 63,152,415 (GRCm39) E2559G probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppa2 A T 3: 133,053,858 (GRCm39) I183F probably damaging Het
Pramel48 T A 5: 95,630,758 (GRCm39) Y212N probably benign Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rchy1 T C 5: 92,099,762 (GRCm39) D192G probably damaging Het
Rexo1 T C 10: 80,378,754 (GRCm39) D1094G probably damaging Het
Rtl1 T A 12: 109,556,970 (GRCm39) D1623V probably damaging Het
Ryr2 C T 13: 11,746,586 (GRCm39) E1989K probably benign Het
Sema6c A G 3: 95,078,124 (GRCm39) E500G probably damaging Het
Slc13a1 T A 6: 24,117,999 (GRCm39) Y246F probably damaging Het
Slc39a9 C T 12: 80,726,297 (GRCm39) L249F probably damaging Het
Slc6a21 C T 7: 44,937,252 (GRCm39) P261S probably benign Het
Slco2b1 C T 7: 99,335,243 (GRCm39) C179Y probably damaging Het
Sox6 T C 7: 115,258,773 (GRCm39) N252S possibly damaging Het
Spr-ps1 C T 6: 85,132,885 (GRCm39) noncoding transcript Het
Sptbn1 C A 11: 30,064,781 (GRCm39) R1906L possibly damaging Het
Stac2 T C 11: 97,943,771 (GRCm39) D13G probably benign Het
Stat5a G T 11: 100,764,955 (GRCm39) R226L probably damaging Het
Suz12 A G 11: 79,904,425 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,936 (GRCm39) H225Q probably benign Het
Tdo2 T A 3: 81,867,853 (GRCm39) M331L probably benign Het
Tesk1 T C 4: 43,447,201 (GRCm39) W530R probably damaging Het
Tlr6 T C 5: 65,112,172 (GRCm39) N245S probably benign Het
Tnfrsf11a G T 1: 105,772,431 (GRCm39) A573S probably damaging Het
Tpbpb A T 13: 61,050,344 (GRCm39) probably benign Het
Trim24 T A 6: 37,928,447 (GRCm39) S590T probably damaging Het
Ttll3 G T 6: 113,369,725 (GRCm39) A90S possibly damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp28 T C 9: 48,928,007 (GRCm39) V363A probably damaging Het
Vcan A G 13: 89,838,990 (GRCm39) S2185P probably benign Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r3 G A 3: 64,166,537 (GRCm39) P865S probably damaging Het
Wapl A G 14: 34,414,415 (GRCm39) T426A probably benign Het
Wdr37 G T 13: 8,886,887 (GRCm39) T300K probably damaging Het
Wrap53 A T 11: 69,452,990 (GRCm39) V439E probably null Het
Wrn A G 8: 33,747,249 (GRCm39) S868P probably benign Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp189 T A 4: 49,529,283 (GRCm39) C129S possibly damaging Het
Zfp442 T C 2: 150,250,100 (GRCm39) K544E probably damaging Het
Zfp939 T A 7: 39,122,728 (GRCm39) noncoding transcript Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging Het
Other mutations in Atp2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Atp2b1 APN 10 98,850,882 (GRCm39) missense possibly damaging 0.84
IGL00972:Atp2b1 APN 10 98,850,906 (GRCm39) missense probably damaging 1.00
IGL00977:Atp2b1 APN 10 98,822,837 (GRCm39) missense possibly damaging 0.88
IGL01154:Atp2b1 APN 10 98,832,750 (GRCm39) missense probably damaging 1.00
IGL03073:Atp2b1 APN 10 98,835,713 (GRCm39) missense probably damaging 1.00
IGL03081:Atp2b1 APN 10 98,830,675 (GRCm39) splice site probably benign
PIT4453001:Atp2b1 UTSW 10 98,852,840 (GRCm39) missense probably benign 0.00
R0157:Atp2b1 UTSW 10 98,835,809 (GRCm39) missense probably damaging 0.99
R0200:Atp2b1 UTSW 10 98,815,676 (GRCm39) nonsense probably null
R0899:Atp2b1 UTSW 10 98,852,893 (GRCm39) critical splice donor site probably null
R0981:Atp2b1 UTSW 10 98,851,491 (GRCm39) missense probably damaging 1.00
R1163:Atp2b1 UTSW 10 98,815,713 (GRCm39) missense possibly damaging 0.91
R1569:Atp2b1 UTSW 10 98,823,188 (GRCm39) missense probably benign 0.02
R1572:Atp2b1 UTSW 10 98,830,537 (GRCm39) missense probably benign 0.10
R1574:Atp2b1 UTSW 10 98,832,810 (GRCm39) missense probably damaging 1.00
R1574:Atp2b1 UTSW 10 98,832,810 (GRCm39) missense probably damaging 1.00
R1721:Atp2b1 UTSW 10 98,832,750 (GRCm39) missense probably damaging 1.00
R1782:Atp2b1 UTSW 10 98,839,063 (GRCm39) missense probably benign 0.01
R1840:Atp2b1 UTSW 10 98,858,791 (GRCm39) missense probably benign 0.00
R1867:Atp2b1 UTSW 10 98,832,750 (GRCm39) missense probably damaging 1.00
R1944:Atp2b1 UTSW 10 98,858,793 (GRCm39) missense probably damaging 0.97
R1984:Atp2b1 UTSW 10 98,850,354 (GRCm39) missense possibly damaging 0.95
R2055:Atp2b1 UTSW 10 98,850,421 (GRCm39) missense probably damaging 1.00
R2325:Atp2b1 UTSW 10 98,854,757 (GRCm39) nonsense probably null
R2399:Atp2b1 UTSW 10 98,835,785 (GRCm39) missense probably benign 0.02
R2876:Atp2b1 UTSW 10 98,835,607 (GRCm39) missense probably damaging 0.96
R3762:Atp2b1 UTSW 10 98,845,351 (GRCm39) missense probably damaging 1.00
R3776:Atp2b1 UTSW 10 98,815,731 (GRCm39) frame shift probably null
R3808:Atp2b1 UTSW 10 98,839,010 (GRCm39) missense possibly damaging 0.74
R3978:Atp2b1 UTSW 10 98,832,795 (GRCm39) splice site probably null
R4391:Atp2b1 UTSW 10 98,839,076 (GRCm39) missense probably benign 0.00
R4825:Atp2b1 UTSW 10 98,845,426 (GRCm39) missense probably damaging 1.00
R5755:Atp2b1 UTSW 10 98,830,671 (GRCm39) critical splice donor site probably null
R5755:Atp2b1 UTSW 10 98,839,032 (GRCm39) missense probably damaging 1.00
R6018:Atp2b1 UTSW 10 98,846,622 (GRCm39) missense probably damaging 1.00
R6179:Atp2b1 UTSW 10 98,858,691 (GRCm39) missense probably damaging 1.00
R6455:Atp2b1 UTSW 10 98,852,842 (GRCm39) missense possibly damaging 0.76
R6496:Atp2b1 UTSW 10 98,839,199 (GRCm39) missense probably damaging 0.98
R6786:Atp2b1 UTSW 10 98,852,821 (GRCm39) missense probably damaging 1.00
R6814:Atp2b1 UTSW 10 98,858,877 (GRCm39) missense possibly damaging 0.87
R7034:Atp2b1 UTSW 10 98,823,172 (GRCm39) missense probably damaging 1.00
R7036:Atp2b1 UTSW 10 98,823,172 (GRCm39) missense probably damaging 1.00
R7079:Atp2b1 UTSW 10 98,854,595 (GRCm39) missense probably benign 0.01
R7216:Atp2b1 UTSW 10 98,822,839 (GRCm39) missense probably benign 0.30
R7510:Atp2b1 UTSW 10 98,829,758 (GRCm39) missense probably benign 0.01
R7562:Atp2b1 UTSW 10 98,858,667 (GRCm39) splice site probably null
R7651:Atp2b1 UTSW 10 98,852,830 (GRCm39) missense probably damaging 0.99
R7739:Atp2b1 UTSW 10 98,837,227 (GRCm39) missense probably benign 0.01
R8005:Atp2b1 UTSW 10 98,830,661 (GRCm39) missense probably damaging 1.00
R8111:Atp2b1 UTSW 10 98,832,786 (GRCm39) missense possibly damaging 0.95
R8904:Atp2b1 UTSW 10 98,804,866 (GRCm39) missense possibly damaging 0.62
R9419:Atp2b1 UTSW 10 98,837,178 (GRCm39) missense possibly damaging 0.56
R9495:Atp2b1 UTSW 10 98,835,660 (GRCm39) missense probably damaging 0.99
R9506:Atp2b1 UTSW 10 98,858,862 (GRCm39) missense probably benign 0.01
R9682:Atp2b1 UTSW 10 98,815,662 (GRCm39) missense possibly damaging 0.90
Z1177:Atp2b1 UTSW 10 98,854,710 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAGAGTTGCAGTGGGTAGC -3'
(R):5'- AGTCCTGGAATCACTGCCTG -3'

Sequencing Primer
(F):5'- CGGCTGCTACATTTAAACAATTGTCC -3'
(R):5'- GGAATCACTGCCTGCATTTTTAAGG -3'
Posted On 2014-06-30