Incidental Mutation 'R1518:Atp2b3'
Institutional Source Beutler Lab
Gene Symbol Atp2b3
Ensembl Gene ENSMUSG00000031376
Gene NameATPase, Ca++ transporting, plasma membrane 3
SynonymsPmca3, 6430519O13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R1518 (G1)
Quality Score214
Status Not validated
Chromosomal Location73503086-73571005 bp(+) (GRCm38)
Type of Mutationsmall deletion (1 aa in frame mutation)
DNA Base Change (assembly) GACAACA to GACA at 73545123 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033744] [ENSMUST00000088429] [ENSMUST00000114479]
Predicted Effect probably benign
Transcript: ENSMUST00000033744
SMART Domains Protein: ENSMUSP00000033744
Gene: ENSMUSG00000031376

Cation_ATPase_N 50 126 1.39e-4 SMART
Pfam:E1-E2_ATPase 159 463 3.3e-58 PFAM
Pfam:Hydrolase 467 806 2.1e-27 PFAM
Pfam:HAD 470 803 2.4e-17 PFAM
Pfam:Hydrolase_like2 516 612 2.4e-17 PFAM
Pfam:Hydrolase_3 764 839 7.4e-7 PFAM
transmembrane domain 852 874 N/A INTRINSIC
Pfam:Cation_ATPase_C 876 1058 2.4e-47 PFAM
low complexity region 1076 1096 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1100 1115 1.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088429
SMART Domains Protein: ENSMUSP00000085775
Gene: ENSMUSG00000031376

Cation_ATPase_N 50 126 1.39e-4 SMART
Pfam:E1-E2_ATPase 158 310 1.8e-29 PFAM
Pfam:E1-E2_ATPase 348 462 3e-13 PFAM
Pfam:Hydrolase 467 806 1.3e-16 PFAM
Pfam:HAD 470 803 3.8e-21 PFAM
Pfam:Cation_ATPase 516 612 7.9e-18 PFAM
Pfam:Hydrolase_3 764 839 5.4e-7 PFAM
transmembrane domain 852 874 N/A INTRINSIC
Pfam:Cation_ATPase_C 876 1058 1.5e-48 PFAM
low complexity region 1076 1096 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1100 1152 4.1e-27 PFAM
low complexity region 1174 1184 N/A INTRINSIC
low complexity region 1193 1207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114479
SMART Domains Protein: ENSMUSP00000110123
Gene: ENSMUSG00000031376

Cation_ATPase_N 50 126 1.39e-4 SMART
Pfam:E1-E2_ATPase 159 463 4.1e-58 PFAM
Pfam:Hydrolase 467 806 4.9e-27 PFAM
Pfam:HAD 470 803 4.7e-17 PFAM
Pfam:Hydrolase_like2 516 612 1.8e-17 PFAM
Pfam:Hydrolase_3 764 839 2.1e-6 PFAM
transmembrane domain 852 874 N/A INTRINSIC
Pfam:Cation_ATPase_C 876 1058 2.3e-47 PFAM
low complexity region 1076 1096 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1100 1163 2.4e-15 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,275,369 M493L probably benign Het
Abtb2 G A 2: 103,709,284 V665I probably benign Het
Adamtsl1 C G 4: 86,342,603 S1017W probably damaging Het
Aebp1 A G 11: 5,871,469 T623A possibly damaging Het
Alox5 A G 6: 116,413,780 F470S probably damaging Het
Angpt2 T C 8: 18,705,839 E204G probably benign Het
Apip A G 2: 103,089,493 E138G probably damaging Het
Apob C T 12: 7,989,207 T466M probably benign Het
Atxn7l3 A T 11: 102,294,514 D56E probably benign Het
Cacna1s C T 1: 136,098,551 A1092V probably damaging Het
Calr3 A G 8: 72,427,200 F183L probably damaging Het
Cd300lb T A 11: 114,926,051 D55V probably benign Het
Chid1 A C 7: 141,528,471 V145G probably damaging Het
Chst15 T C 7: 132,270,126 N142S probably damaging Het
Cnot4 C T 6: 35,051,454 R409Q probably damaging Het
Cope T G 8: 70,312,761 I287S possibly damaging Het
Cpd A T 11: 76,840,386 probably null Het
Cux1 G T 5: 136,308,279 T785K probably benign Het
Dthd1 T C 5: 62,822,040 S348P probably damaging Het
Eno3 G T 11: 70,661,077 E64* probably null Het
Entpd1 T A 19: 40,725,063 Y184* probably null Het
Erv3 A T 2: 131,856,163 M92K probably benign Het
Flg2 T A 3: 93,203,138 H824Q unknown Het
Fndc9 G A 11: 46,238,103 G150S probably benign Het
Gdap1 G A 1: 17,146,945 V43I possibly damaging Het
Ifi213 C A 1: 173,589,663 L394F probably damaging Het
Ift88 A G 14: 57,430,628 T29A possibly damaging Het
Kdm4c A T 4: 74,333,826 I437L probably benign Het
Kras T A 6: 145,232,251 E98D probably benign Het
Lcorl C A 5: 45,734,201 R353I possibly damaging Het
Lrrc4c A G 2: 97,630,576 I516V probably benign Het
Lrrc51 T C 7: 101,915,596 D85G probably damaging Het
Lypd6b G A 2: 49,947,492 A159T probably damaging Het
Magel2 G A 7: 62,380,440 V1031I unknown Het
Man1c1 A T 4: 134,580,789 N338K probably benign Het
Mdn1 C A 4: 32,739,977 Q3744K probably damaging Het
Micu3 G T 8: 40,335,852 A135S possibly damaging Het
Muc4 T C 16: 32,750,349 S76P possibly damaging Het
Nin T G 12: 70,014,773 T2106P probably benign Het
Nlrp4e T C 7: 23,321,843 I585T probably benign Het
Npy1r C T 8: 66,704,195 A89V probably benign Het
Olfr1136 A T 2: 87,693,528 M118K probably damaging Het
Olfr1220 G A 2: 89,097,600 A109V probably benign Het
Olfr608 T A 7: 103,470,042 M1K probably null Het
Olfr665 T A 7: 104,881,308 Y200* probably null Het
Olfr743 T C 14: 50,534,165 V251A probably damaging Het
Parp14 T G 16: 35,856,638 T987P possibly damaging Het
Pde7b A T 10: 20,548,121 V3E probably damaging Het
Pdlim7 G T 13: 55,508,294 Y104* probably null Het
Pgm2l1 A G 7: 100,261,725 K292R probably benign Het
Plec T C 15: 76,188,201 E728G probably damaging Het
Plppr4 T C 3: 117,335,503 Y105C probably damaging Het
Polr1c A T 17: 46,247,895 N23K possibly damaging Het
Ppp5c A T 7: 17,009,936 M191K probably damaging Het
Prkca T C 11: 107,978,316 D57G probably damaging Het
Prkcb A G 7: 122,544,631 probably null Het
Prl6a1 C A 13: 27,318,927 Q169K possibly damaging Het
Prl6a1 A T 13: 27,318,928 Q169L probably null Het
Psmd14 G A 2: 61,760,991 R46H probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ramp2 A G 11: 101,247,582 T22A probably benign Het
Rbm25 A T 12: 83,668,445 E463D possibly damaging Het
Retnlb A G 16: 48,817,315 I35V probably benign Het
Sestd1 A G 2: 77,241,632 Y49H probably damaging Het
Setd2 T A 9: 110,602,238 I2378N probably damaging Het
Slc26a1 A T 5: 108,671,874 C486* probably null Het
Spef2 T A 15: 9,667,230 I791F probably damaging Het
Sptb T C 12: 76,604,024 T1726A possibly damaging Het
St5 A G 7: 109,557,355 S63P probably damaging Het
Stk38l T A 6: 146,771,631 M296K probably benign Het
Taf5 T C 19: 47,081,846 F624L probably damaging Het
Tmem30c G T 16: 57,266,492 T316K probably damaging Het
Trpm2 A G 10: 77,943,005 S376P possibly damaging Het
Vmn2r82 A T 10: 79,378,868 L228F probably damaging Het
Zfp607b G A 7: 27,698,662 C57Y possibly damaging Het
Zfp983 A G 17: 21,662,353 H399R probably damaging Het
Zfp984 A T 4: 147,755,545 M283K probably benign Het
Other mutations in Atp2b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Atp2b3 APN X 73545360 splice site probably benign
IGL02640:Atp2b3 APN X 73542205 missense probably benign
R1571:Atp2b3 UTSW X 73545106 missense probably damaging 1.00
R2920:Atp2b3 UTSW X 73533920 missense probably benign 0.21
R4214:Atp2b3 UTSW X 73570315 missense probably benign 0.00
X0004:Atp2b3 UTSW X 73535494 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-04-13