Incidental Mutation 'R3808:Atp2b1'
ID 275047
Institutional Source Beutler Lab
Gene Symbol Atp2b1
Ensembl Gene ENSMUSG00000019943
Gene Name ATPase, Ca++ transporting, plasma membrane 1
Synonyms PMCA1, 2810442I22Rik, E130111D10Rik
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 98750268-98862005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98839010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 613 (K613E)
Ref Sequence ENSEMBL: ENSMUSP00000020107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020107]
AlphaFold G5E829
Predicted Effect possibly damaging
Transcript: ENSMUST00000020107
AA Change: K613E

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: K613E

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 unknown
Transcript: ENSMUST00000219090
AA Change: K32E
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H 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
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
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
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'- CGAGGTGGCTGGTTAAGAAC -3'
(R):5'- AACCGCGATACACGTAAGGC -3'

Sequencing Primer
(F):5'- TTAAGAACCGGAACTAAGAGCG -3'
(R):5'- TACACGTAAGGCCGGTGAC -3'
Posted On 2015-04-02