Incidental Mutation 'PIT4453001:Atp2b1'
ID 555337
Institutional Source Beutler Lab
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 # PIT4453001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 98750268-98862005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98852840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1039 (E1039G)
Ref Sequence ENSEMBL: ENSMUSP00000020107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000220104]
AlphaFold G5E829
Predicted Effect probably benign
Transcript: ENSMUST00000020107
AA Change: E1039G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: E1039G

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
Predicted Effect probably benign
Transcript: ENSMUST00000220104
AA Change: E107G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.9%
  • 10x: 85.6%
  • 20x: 74.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,898,965 (GRCm39) I649S probably damaging Het
Abcc2 T A 19: 43,792,221 (GRCm39) L334* probably null Het
Adam28 A T 14: 68,872,325 (GRCm39) S306T probably benign Het
Adam34 T A 8: 44,104,349 (GRCm39) D432V probably damaging Het
Adcy7 A G 8: 89,050,264 (GRCm39) Y723C probably benign Het
Adgre5 T A 8: 84,451,089 (GRCm39) M713L probably benign Het
Aebp2 C A 6: 140,583,412 (GRCm39) C295* probably null Het
Amn1 G T 6: 149,072,357 (GRCm39) Q127K probably benign Het
Atcay C T 10: 81,046,383 (GRCm39) V314M probably damaging Het
Atp1a1 T C 3: 101,488,495 (GRCm39) E847G probably benign Het
Caskin1 A G 17: 24,718,266 (GRCm39) Y292C probably damaging Het
Cftr A G 6: 18,214,105 (GRCm39) T94A probably damaging Het
Ciart T A 3: 95,787,788 (GRCm39) K182M probably damaging Het
Col1a2 A C 6: 4,527,079 (GRCm39) S603R possibly damaging Het
Cspp1 C A 1: 10,145,097 (GRCm39) S298R possibly damaging Het
Cul7 T A 17: 46,962,746 (GRCm39) C126S probably damaging Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cypt4 G C 9: 24,536,770 (GRCm39) A87P probably damaging Het
Disp2 G A 2: 118,618,125 (GRCm39) V224M probably benign Het
Dlgap5 TTC T 14: 47,638,979 (GRCm39) probably null Het
Dock1 A G 7: 134,754,029 (GRCm39) K1602R probably benign Het
Ears2 T C 7: 121,647,562 (GRCm39) I241V probably benign Het
Eml6 T C 11: 29,752,489 (GRCm39) T975A probably damaging Het
Ephb2 T C 4: 136,388,121 (GRCm39) T660A probably benign Het
Fbxw7 G A 3: 84,872,621 (GRCm39) V268M Het
Gart A G 16: 91,433,426 (GRCm39) F289S probably damaging Het
Gmcl1 G T 6: 86,681,520 (GRCm39) N391K probably benign Het
Greb1l A C 18: 10,533,031 (GRCm39) Q975P probably damaging Het
Greb1l G T 18: 10,533,032 (GRCm39) Q975H probably benign Het
Grik5 C A 7: 24,710,119 (GRCm39) R872L probably damaging Het
Hmox2 T A 16: 4,582,921 (GRCm39) I218N probably damaging Het
Hook1 A T 4: 95,903,089 (GRCm39) D526V probably damaging Het
Ifna4 A T 4: 88,760,191 (GRCm39) N32Y probably damaging Het
Ighg2b T A 12: 113,270,492 (GRCm39) N213Y unknown Het
Itih4 G A 14: 30,623,127 (GRCm39) V900I probably benign Het
Itpr2 A T 6: 146,274,671 (GRCm39) F837Y probably damaging Het
Kif3a T C 11: 53,469,941 (GRCm39) V147A probably benign Het
Klra9 T A 6: 130,168,284 (GRCm39) probably benign Het
Lamp3 G T 16: 19,492,210 (GRCm39) Q345K probably benign Het
Ltbp3 G A 19: 5,807,822 (GRCm39) E1188K probably damaging Het
Med1 T A 11: 98,049,243 (GRCm39) I518L probably benign Het
Mis18bp1 T C 12: 65,205,447 (GRCm39) T242A probably damaging Het
Nemp1 T A 10: 127,532,123 (GRCm39) F392Y probably benign Het
Obscn C A 11: 58,951,802 (GRCm39) G3984W probably damaging Het
Obscn T A 11: 58,960,660 (GRCm39) H3217L possibly damaging Het
Or10ak7 A G 4: 118,791,823 (GRCm39) M74T probably benign Het
Or13j1 A G 4: 43,706,464 (GRCm39) Y35H probably damaging Het
Or2d3b C T 7: 106,514,136 (GRCm39) H244Y probably damaging Het
Or2d3c T C 7: 106,526,049 (GRCm39) I206V probably benign Het
Or5l14 C T 2: 87,792,802 (GRCm39) V145M possibly damaging Het
P4ha1 G T 10: 59,186,294 (GRCm39) A258S probably benign Het
Parn T C 16: 13,425,145 (GRCm39) I423V probably benign Het
Pcdh20 C A 14: 88,704,744 (GRCm39) S852I probably damaging Het
Pcnx3 A G 19: 5,722,784 (GRCm39) probably null Het
Pcsk1 A T 13: 75,260,769 (GRCm39) I331F probably damaging Het
Pkd1l2 G T 8: 117,748,761 (GRCm39) S1803R probably benign Het
Pkd1l3 C A 8: 110,387,433 (GRCm39) N1792K probably damaging Het
Plekhg1 C A 10: 3,913,469 (GRCm39) Q1119K Het
Prr30 T A 14: 101,436,371 (GRCm39) T64S probably benign Het
Rec114 T C 9: 58,567,653 (GRCm39) N111S probably benign Het
Reck G A 4: 43,895,850 (GRCm39) V79I probably benign Het
Rexo1 A G 10: 80,386,231 (GRCm39) F276L probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Sdk1 A G 5: 142,197,793 (GRCm39) R2149G probably benign Het
Slc20a2 C A 8: 23,025,398 (GRCm39) F33L probably damaging Het
Spopl T A 2: 23,435,461 (GRCm39) T25S probably damaging Het
Srcap A T 7: 127,148,492 (GRCm39) I1947F possibly damaging Het
Srek1 A C 13: 103,881,291 (GRCm39) probably null Het
St8sia1 C T 6: 142,774,978 (GRCm39) W200* probably null Het
Tas2r106 A T 6: 131,655,465 (GRCm39) F129I possibly damaging Het
Tbrg4 A T 11: 6,570,857 (GRCm39) L205Q probably damaging Het
Tchh C A 3: 93,353,187 (GRCm39) R876S unknown Het
Thap12 G T 7: 98,364,245 (GRCm39) A138S probably benign Het
Tjp1 C T 7: 64,993,362 (GRCm39) probably null Het
Traf4 G A 11: 78,052,360 (GRCm39) P95L probably benign Het
Trappc9 ATCTC ATCTCTC 15: 72,903,447 (GRCm39) probably null Het
Usp20 G A 2: 30,907,498 (GRCm39) V677M possibly damaging Het
Usp50 C A 2: 126,625,236 (GRCm39) probably benign Het
Vmn1r21 T C 6: 57,821,307 (GRCm39) T46A probably benign Het
Vmn2r54 T A 7: 12,363,669 (GRCm39) H408L probably benign Het
Zfp266 T C 9: 20,417,299 (GRCm39) T30A probably benign Het
Zfp536 T C 7: 37,179,182 (GRCm39) H1141R probably benign 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
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
R1868: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'- AGCGAGAACATACAGGTATTCC -3'
(R):5'- AAGCGCCATCTTGGACAAGC -3'

Sequencing Primer
(F):5'- GCGAGAACATACAGGTATTCCTTTGG -3'
(R):5'- ATCTTGGACAAGCCGCCTAG -3'
Posted On 2019-06-07