Incidental Mutation 'R9657:Atp2b4'
ID 727356
Institutional Source Beutler Lab
Gene Symbol Atp2b4
Ensembl Gene ENSMUSG00000026463
Gene Name ATPase, Ca++ transporting, plasma membrane 4
Synonyms PMCA4
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.440) question?
Stock # R9657 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 133630411-133728797 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133656478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 724 (E724G)
Ref Sequence ENSEMBL: ENSMUSP00000047978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048953] [ENSMUST00000112264] [ENSMUST00000125659] [ENSMUST00000143567] [ENSMUST00000165602]
AlphaFold Q6Q477
Predicted Effect probably damaging
Transcript: ENSMUST00000048953
AA Change: E724G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: E724G

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 damaging
Transcript: ENSMUST00000112264
AA Change: E724G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: E724G

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: E724G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: E724G

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 damaging
Transcript: ENSMUST00000143567
AA Change: E724G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: E724G

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 damaging
Transcript: ENSMUST00000165602
AA Change: E724G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: E724G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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 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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,243,379 (GRCm39) D1747E probably benign Het
Acad11 T A 9: 103,953,035 (GRCm39) I88N possibly damaging Het
Bcl2a1b T C 9: 89,081,599 (GRCm39) S63P probably damaging Het
Blzf1 T C 1: 164,134,023 (GRCm39) S9G probably benign Het
Ccdc121rt1 T C 1: 181,338,104 (GRCm39) T283A probably benign Het
Cdh22 T C 2: 164,965,715 (GRCm39) D488G probably benign Het
Cep290 A G 10: 100,351,003 (GRCm39) E688G possibly damaging Het
Cldn10 A C 14: 119,025,781 (GRCm39) E71D probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Cyp3a16 T C 5: 145,386,979 (GRCm39) D337G probably null Het
Dnah5 A T 15: 28,410,089 (GRCm39) D3654V probably damaging Het
Dock1 T C 7: 134,339,429 (GRCm39) S100P possibly damaging Het
Hdgfl2 T C 17: 56,405,978 (GRCm39) V488A unknown Het
Itih2 T C 2: 10,107,686 (GRCm39) T627A probably damaging Het
Katnip A G 7: 125,441,956 (GRCm39) S648G probably benign Het
Klhl33 T C 14: 51,134,117 (GRCm39) D144G probably benign Het
Lca5l G A 16: 95,974,953 (GRCm39) Q324* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mical2 A G 7: 111,921,806 (GRCm39) T542A probably benign Het
Moxd1 T A 10: 24,128,485 (GRCm39) V179E probably benign Het
Myh7b A G 2: 155,455,963 (GRCm39) Y116C probably damaging Het
Myoc C T 1: 162,467,229 (GRCm39) R133* probably null Het
Nol3 A T 8: 106,005,641 (GRCm39) I12F probably damaging Het
Nrap A G 19: 56,352,377 (GRCm39) V605A probably benign Het
Or5w13 T C 2: 87,524,121 (GRCm39) Y35C probably damaging Het
Or9m2 A C 2: 87,821,310 (GRCm39) N285T probably damaging Het
Pag1 G T 3: 9,769,791 (GRCm39) S52R probably damaging Het
Pbxip1 A G 3: 89,355,056 (GRCm39) D525G probably benign Het
Pla2g4f A G 2: 120,135,138 (GRCm39) F437L probably benign Het
Podn A C 4: 107,884,231 (GRCm39) I86S probably damaging Het
Postn A G 3: 54,290,820 (GRCm39) T676A probably benign Het
Ppp1r1c A G 2: 79,638,718 (GRCm39) E104G probably benign Het
Prss53 T C 7: 127,486,238 (GRCm39) T436A probably damaging Het
Psme4 A T 11: 30,788,980 (GRCm39) E1127D probably benign Het
Ptpn18 C A 1: 34,512,473 (GRCm39) A426E possibly damaging Het
Ptprz1 T G 6: 23,042,377 (GRCm39) C2044G possibly damaging Het
Rad54l2 C A 9: 106,581,372 (GRCm39) V850L probably damaging Het
Ranbp9 A G 13: 43,557,155 (GRCm39) I28T unknown Het
Rapgef2 A T 3: 78,999,191 (GRCm39) V527E probably damaging Het
Rere C A 4: 150,699,390 (GRCm39) P825T unknown Het
Rundc3a A G 11: 102,291,578 (GRCm39) T349A probably benign Het
Scn2a T C 2: 65,566,032 (GRCm39) F1352S probably damaging Het
Senp7 T A 16: 55,944,295 (GRCm39) C206* probably null Het
Serac1 C T 17: 6,119,658 (GRCm39) V91I probably benign Het
Serpina1f G A 12: 103,656,050 (GRCm39) Q393* probably null Het
Slc8a1 T C 17: 81,955,244 (GRCm39) E598G probably damaging Het
Slmap A T 14: 26,151,013 (GRCm39) H518Q probably benign Het
Spg11 G A 2: 121,910,781 (GRCm39) R1199C probably damaging Het
Tada1 T C 1: 166,214,312 (GRCm39) S104P possibly damaging Het
Tbck A G 3: 132,421,451 (GRCm39) D186G probably damaging Het
Tdrd9 A C 12: 112,002,824 (GRCm39) R824S possibly damaging Het
Tmem161a T C 8: 70,630,260 (GRCm39) probably null Het
Trim55 G A 3: 19,728,671 (GRCm39) G494D possibly damaging Het
Ttc17 T A 2: 94,237,010 (GRCm39) M1L probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ugt3a1 A C 15: 9,280,133 (GRCm39) S32R probably damaging Het
Vgll3 T C 16: 65,636,343 (GRCm39) S220P probably benign Het
Virma A G 4: 11,544,898 (GRCm39) E1569G probably damaging Het
Vmn1r54 C G 6: 90,246,984 (GRCm39) F299L probably benign Het
Vmn2r114 A G 17: 23,510,690 (GRCm39) S597P probably damaging Het
Wdr7 A G 18: 64,057,918 (GRCm39) D1249G probably damaging Het
Wdr97 A G 15: 76,245,476 (GRCm39) Y1271C Het
Yju2b T C 8: 84,987,084 (GRCm39) K138E possibly damaging Het
Ypel4 A G 2: 84,568,068 (GRCm39) Y108C probably damaging Het
Zfp770 A G 2: 114,027,766 (GRCm39) V101A probably damaging Het
Zfyve9 A T 4: 108,575,729 (GRCm39) C451S probably damaging 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
R6526:Atp2b4 UTSW 1 133,639,467 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TAAGAGGACACCCTGCTCACTG -3'
(R):5'- AAGCTCACAGCCAGGTTTCC -3'

Sequencing Primer
(F):5'- TCACTGTACGAGCAGCTGTG -3'
(R):5'- GCTCACAGCCAGGTTTCCTTTTC -3'
Posted On 2022-10-06