Incidental Mutation 'R1569:Atp2b1'
ID 177129
Institutional Source Beutler Lab
Gene Symbol Atp2b1
Ensembl Gene ENSMUSG00000019943
Gene Name ATPase, Ca++ transporting, plasma membrane 1
Synonyms PMCA1, 2810442I22Rik, E130111D10Rik
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 98750268-98862005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98823188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 249 (H249Q)
Ref Sequence ENSEMBL: ENSMUSP00000020107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000219557] [ENSMUST00000219624]
AlphaFold G5E829
Predicted Effect probably benign
Transcript: ENSMUST00000020107
AA Change: H249Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: H249Q

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 noncoding transcript
Transcript: ENSMUST00000218695
Predicted Effect probably benign
Transcript: ENSMUST00000219557
Predicted Effect probably benign
Transcript: ENSMUST00000219624
AA Change: H249Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220358
Meta Mutation Damage Score 0.2688 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably 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
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'- AGCAGGAACAGAAGTTCACCGTC -3'
(R):5'- ATACAGCTCTGCAATATGCCCGTC -3'

Sequencing Primer
(F):5'- TACTGTTGGAGACATTGCCCAAG -3'
(R):5'- CTCTATGGCCTCTAAGGTTGATACC -3'
Posted On 2014-04-24