Incidental Mutation 'R6526:Atp2b4'
ID 521797
Institutional Source Beutler Lab
Gene Symbol Atp2b4
Ensembl Gene ENSMUSG00000026463
Gene Name ATPase, Ca++ transporting, plasma membrane 4
Synonyms PMCA4
MMRRC Submission 044652-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.440) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 133630411-133728797 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133639467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1136 (S1136P)
Ref Sequence ENSEMBL: ENSMUSP00000116941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048953] [ENSMUST00000112264] [ENSMUST00000125659] [ENSMUST00000143567] [ENSMUST00000165602]
AlphaFold Q6Q477
Predicted Effect probably damaging
Transcript: ENSMUST00000048953
AA Change: S1136P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: S1136P

DomainStartEndE-ValueType
Cation_ATPase_N 45 121 1.81e-8 SMART
low complexity region 140 152 N/A INTRINSIC
Pfam:E1-E2_ATPase 154 456 1.7e-58 PFAM
Pfam:Hydrolase 460 798 3e-26 PFAM
Pfam:HAD 463 795 7.4e-15 PFAM
Pfam:Hydrolase_like2 510 605 3.6e-17 PFAM
Pfam:Hydrolase_3 756 831 2.7e-6 PFAM
Pfam:Cation_ATPase_C 868 1050 1.1e-43 PFAM
Pfam:ATP_Ca_trans_C 1090 1153 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112264
SMART Domains Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463

DomainStartEndE-ValueType
Cation_ATPase_N 45 121 1.81e-8 SMART
low complexity region 140 152 N/A INTRINSIC
Pfam:E1-E2_ATPase 154 456 1.3e-58 PFAM
Pfam:Hydrolase 460 798 1.2e-26 PFAM
Pfam:HAD 463 795 3.5e-15 PFAM
Pfam:Hydrolase_like2 510 605 4.6e-17 PFAM
Pfam:Hydrolase_3 756 831 9.1e-7 PFAM
Pfam:Cation_ATPase_C 868 1050 1.1e-43 PFAM
Pfam:ATP_Ca_trans_C 1090 1104 7.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125659
AA Change: S1136P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: S1136P

DomainStartEndE-ValueType
Cation_ATPase_N 45 121 1.81e-8 SMART
low complexity region 140 152 N/A INTRINSIC
Pfam:E1-E2_ATPase 154 456 1.7e-58 PFAM
Pfam:Hydrolase 460 798 3e-26 PFAM
Pfam:HAD 463 795 7.4e-15 PFAM
Pfam:Hydrolase_like2 510 605 3.6e-17 PFAM
Pfam:Hydrolase_3 756 831 2.7e-6 PFAM
Pfam:Cation_ATPase_C 868 1050 1.1e-43 PFAM
Pfam:ATP_Ca_trans_C 1090 1153 1.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140810
Predicted Effect probably benign
Transcript: ENSMUST00000143567
SMART Domains Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463

DomainStartEndE-ValueType
Cation_ATPase_N 45 121 1.81e-8 SMART
low complexity region 140 152 N/A INTRINSIC
Pfam:E1-E2_ATPase 153 301 6.8e-29 PFAM
Pfam:E1-E2_ATPase 338 455 1.9e-13 PFAM
Pfam:HAD 463 795 1e-21 PFAM
Pfam:Cation_ATPase 509 605 5.8e-17 PFAM
Pfam:Hydrolase 577 798 5e-15 PFAM
Pfam:Hydrolase_3 756 831 6.6e-7 PFAM
Pfam:Cation_ATPase_C 868 1050 4.5e-45 PFAM
Pfam:ATP_Ca_trans_C 1090 1141 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165602
SMART Domains Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463

DomainStartEndE-ValueType
Cation_ATPase_N 45 121 1.81e-8 SMART
low complexity region 140 152 N/A INTRINSIC
Pfam:E1-E2_ATPase 154 456 1.5e-58 PFAM
Pfam:Hydrolase 460 798 1.4e-26 PFAM
Pfam:HAD 463 795 4.1e-15 PFAM
Pfam:Hydrolase_like2 510 605 5.1e-17 PFAM
Pfam:Hydrolase_3 756 831 1e-6 PFAM
Pfam:Cation_ATPase_C 868 1050 1.3e-43 PFAM
Pfam:ATP_Ca_trans_C 1090 1151 4.8e-26 PFAM
Meta Mutation Damage Score 0.1281 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility with impaired sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elf5 A G 2: 103,269,578 (GRCm39) Y53C probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Kdm2b C A 5: 123,099,532 (GRCm39) V136F probably damaging Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pitx2 T C 3: 129,008,432 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Prkch T C 12: 73,749,549 (GRCm39) Y381H probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rbl2 A T 8: 91,823,467 (GRCm39) Q465L probably benign Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Uqcc1 A G 2: 155,693,343 (GRCm39) F197S probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign Het
Other mutations in Atp2b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02387:Atp2b4 APN 1 133,659,627 (GRCm39) missense probably damaging 1.00
IGL02887:Atp2b4 APN 1 133,656,512 (GRCm39) missense probably damaging 1.00
IGL02964:Atp2b4 APN 1 133,658,303 (GRCm39) missense probably damaging 1.00
IGL03116:Atp2b4 APN 1 133,656,506 (GRCm39) missense possibly damaging 0.95
IGL03227:Atp2b4 APN 1 133,657,445 (GRCm39) splice site probably benign
G1patch:Atp2b4 UTSW 1 133,634,725 (GRCm39) missense probably benign 0.01
R0018:Atp2b4 UTSW 1 133,645,609 (GRCm39) missense probably damaging 1.00
R0018:Atp2b4 UTSW 1 133,645,609 (GRCm39) missense probably damaging 1.00
R0279:Atp2b4 UTSW 1 133,657,440 (GRCm39) splice site probably benign
R0455:Atp2b4 UTSW 1 133,656,454 (GRCm39) missense probably damaging 1.00
R0511:Atp2b4 UTSW 1 133,659,956 (GRCm39) splice site probably benign
R0712:Atp2b4 UTSW 1 133,658,216 (GRCm39) missense probably damaging 1.00
R1469:Atp2b4 UTSW 1 133,634,677 (GRCm39) missense probably damaging 0.97
R1469:Atp2b4 UTSW 1 133,634,677 (GRCm39) missense probably damaging 0.97
R1529:Atp2b4 UTSW 1 133,645,726 (GRCm39) missense probably damaging 1.00
R1771:Atp2b4 UTSW 1 133,660,131 (GRCm39) missense probably damaging 0.96
R1954:Atp2b4 UTSW 1 133,667,730 (GRCm39) missense probably damaging 1.00
R2054:Atp2b4 UTSW 1 133,642,907 (GRCm39) missense probably benign 0.03
R2056:Atp2b4 UTSW 1 133,654,275 (GRCm39) missense probably benign 0.36
R2059:Atp2b4 UTSW 1 133,654,275 (GRCm39) missense probably benign 0.36
R2091:Atp2b4 UTSW 1 133,642,968 (GRCm39) missense probably benign 0.00
R2263:Atp2b4 UTSW 1 133,654,271 (GRCm39) missense probably benign 0.35
R3907:Atp2b4 UTSW 1 133,666,324 (GRCm39) missense probably damaging 1.00
R4362:Atp2b4 UTSW 1 133,667,669 (GRCm39) missense possibly damaging 0.94
R4756:Atp2b4 UTSW 1 133,667,134 (GRCm39) missense probably benign 0.41
R4756:Atp2b4 UTSW 1 133,639,529 (GRCm39) missense probably benign 0.00
R4856:Atp2b4 UTSW 1 133,634,518 (GRCm39) missense probably benign 0.00
R4886:Atp2b4 UTSW 1 133,634,518 (GRCm39) missense probably benign 0.00
R5177:Atp2b4 UTSW 1 133,656,506 (GRCm39) missense probably benign 0.00
R5454:Atp2b4 UTSW 1 133,657,610 (GRCm39) missense probably damaging 1.00
R5594:Atp2b4 UTSW 1 133,658,248 (GRCm39) missense probably damaging 1.00
R5712:Atp2b4 UTSW 1 133,658,278 (GRCm39) missense probably damaging 1.00
R6034:Atp2b4 UTSW 1 133,659,645 (GRCm39) critical splice acceptor site probably null
R6034:Atp2b4 UTSW 1 133,659,645 (GRCm39) critical splice acceptor site probably null
R6078:Atp2b4 UTSW 1 133,629,440 (GRCm39) small insertion probably benign
R6079:Atp2b4 UTSW 1 133,629,440 (GRCm39) small insertion probably benign
R6244:Atp2b4 UTSW 1 133,654,299 (GRCm39) missense probably damaging 1.00
R6376:Atp2b4 UTSW 1 133,642,797 (GRCm39) missense probably damaging 1.00
R6483:Atp2b4 UTSW 1 133,657,618 (GRCm39) missense possibly damaging 0.68
R6725:Atp2b4 UTSW 1 133,634,725 (GRCm39) missense probably benign 0.01
R6801:Atp2b4 UTSW 1 133,655,524 (GRCm39) missense probably damaging 0.97
R7548:Atp2b4 UTSW 1 133,629,379 (GRCm39) makesense probably null
R7946:Atp2b4 UTSW 1 133,658,320 (GRCm39) missense probably damaging 0.96
R8228:Atp2b4 UTSW 1 133,629,459 (GRCm39) small insertion probably benign
R8401:Atp2b4 UTSW 1 133,659,574 (GRCm39) missense probably damaging 1.00
R8720:Atp2b4 UTSW 1 133,629,465 (GRCm39) small insertion probably benign
R8787:Atp2b4 UTSW 1 133,629,485 (GRCm39) small insertion probably benign
R8882:Atp2b4 UTSW 1 133,654,193 (GRCm39) critical splice donor site probably null
R8966:Atp2b4 UTSW 1 133,666,317 (GRCm39) missense probably benign 0.30
R9033:Atp2b4 UTSW 1 133,634,725 (GRCm39) missense probably benign 0.01
R9121:Atp2b4 UTSW 1 133,629,463 (GRCm39) small insertion probably benign
R9160:Atp2b4 UTSW 1 133,660,143 (GRCm39) missense probably benign 0.13
R9366:Atp2b4 UTSW 1 133,642,920 (GRCm39) missense probably damaging 1.00
R9592:Atp2b4 UTSW 1 133,659,568 (GRCm39) missense probably damaging 1.00
R9657:Atp2b4 UTSW 1 133,656,478 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGAAAAGCACTAGTAACCATGG -3'
(R):5'- CACCTGTTGCTCTGGGTTTAAG -3'

Sequencing Primer
(F):5'- CCATGGTTGGTTAAAGTGGATGCC -3'
(R):5'- AGGGAATAGCTCTCTTGATCTCC -3'
Posted On 2018-06-06