Incidental Mutation 'R6034:Atp2b4'
ID 486423
Institutional Source Beutler Lab
Gene Symbol Atp2b4
Ensembl Gene ENSMUSG00000026463
Gene Name ATPase, Ca++ transporting, plasma membrane 4
Synonyms PMCA4
MMRRC Submission 044206-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.440) question?
Stock # R6034 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 133630411-133728797 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 133659645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048953] [ENSMUST00000112264] [ENSMUST00000125659] [ENSMUST00000143567] [ENSMUST00000165602]
AlphaFold Q6Q477
Predicted Effect probably null
Transcript: ENSMUST00000048953
SMART Domains Protein: ENSMUSP00000047978
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 1.7e-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 null
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 null
Transcript: ENSMUST00000125659
SMART Domains Protein: ENSMUSP00000116941
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 1.7e-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 null
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 null
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 0.9501 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (55/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G T 1: 34,760,984 (GRCm39) G80V unknown Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Atad2 A T 15: 57,971,959 (GRCm39) L306Q probably damaging Het
Atp6v1c2 C A 12: 17,357,501 (GRCm39) G95V possibly damaging Het
Birc6 T A 17: 74,922,278 (GRCm39) V2192E probably damaging Het
Catsperb A G 12: 101,542,091 (GRCm39) E597G probably benign Het
Ccdc40 A G 11: 119,133,898 (GRCm39) M556V possibly damaging Het
Ccin G A 4: 43,985,354 (GRCm39) R587K probably benign Het
Cdipt T G 7: 126,577,497 (GRCm39) V81G probably damaging Het
Cert1 A C 13: 96,746,308 (GRCm39) I236L probably benign Het
Cfh T C 1: 140,090,869 (GRCm39) K40E probably damaging Het
Cps1 T A 1: 67,196,872 (GRCm39) probably null Het
Dnah7c A T 1: 46,496,418 (GRCm39) D101V probably benign Het
Fastkd3 T A 13: 68,731,729 (GRCm39) W17R probably damaging Het
Gapdh T C 6: 125,142,261 (GRCm39) D25G probably benign Het
H1f4 A G 13: 23,806,296 (GRCm39) L62P probably damaging Het
H2-Ob T C 17: 34,460,192 (GRCm39) V30A probably damaging Het
Hmgxb3 T A 18: 61,265,594 (GRCm39) H1128L probably damaging Het
Hspbp1 A T 7: 4,680,711 (GRCm39) I255N probably damaging Het
Imp4 A G 1: 34,482,537 (GRCm39) D91G probably damaging Het
Itprid1 T A 6: 55,944,666 (GRCm39) D462E possibly damaging Het
Kcnip4 G T 5: 48,548,283 (GRCm39) R241S possibly damaging Het
Lilra5 T C 7: 4,245,133 (GRCm39) L259P probably benign Het
Lipf T C 19: 33,942,289 (GRCm39) I73T probably benign Het
Lsm7 T C 10: 80,688,742 (GRCm39) probably null Het
Luzp2 T A 7: 54,816,972 (GRCm39) L141M probably damaging Het
Malrd1 T A 2: 15,850,137 (GRCm39) V1252E possibly damaging Het
Map10 T C 8: 126,399,205 (GRCm39) L866P probably damaging Het
Mink1 AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 70,497,866 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,460 (GRCm39) I355V possibly damaging Het
Mtrf1l T A 10: 5,773,834 (GRCm39) probably benign Het
Myo5c A T 9: 75,163,187 (GRCm39) T339S probably benign Het
Naa15 A G 3: 51,350,242 (GRCm39) D163G probably damaging Het
Oosp2 A G 19: 11,628,879 (GRCm39) F74S probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,702 (GRCm39) Y123F probably damaging Het
Pard3 C G 8: 127,791,077 (GRCm39) probably benign Het
Pcdha1 T A 18: 37,063,651 (GRCm39) I105N probably damaging Het
Pcdhgb8 A G 18: 37,895,601 (GRCm39) T224A possibly damaging Het
Phf12 A G 11: 77,908,895 (GRCm39) N325S probably benign Het
Prom1 T A 5: 44,201,750 (GRCm39) probably null Het
Raet1e A G 10: 22,057,990 (GRCm39) *252W probably null Het
Sap130 T C 18: 31,822,459 (GRCm39) V655A possibly damaging Het
Sec16b A T 1: 157,380,509 (GRCm39) K360I probably damaging Het
Sec23ip C T 7: 128,351,927 (GRCm39) T101I possibly damaging Het
Selenoo A G 15: 88,983,546 (GRCm39) K529R probably benign Het
Slc22a15 A G 3: 101,770,235 (GRCm39) F451L possibly damaging Het
St6gal2 T A 17: 55,789,982 (GRCm39) S339T probably benign Het
Stard13 A T 5: 151,018,965 (GRCm39) probably null Het
Synm A G 7: 67,384,653 (GRCm39) V561A probably damaging Het
Tc2n A T 12: 101,617,460 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,229,377 (GRCm39) D236V probably damaging Het
Vmn1r65 A G 7: 6,011,868 (GRCm39) L122P probably damaging Het
Zc3h14 T C 12: 98,737,632 (GRCm39) S40P probably benign Het
Zc3hav1l C A 6: 38,272,215 (GRCm39) G185C probably damaging Het
Zfp563 G A 17: 33,323,935 (GRCm39) A177T 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
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
R9657:Atp2b4 UTSW 1 133,656,478 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGAGCTCCAGAACCTTGGG -3'
(R):5'- TGAACAGAAATCCTTAGCTCTGG -3'

Sequencing Primer
(F):5'- CTCCAGAACCTTGGGTGGGAAG -3'
(R):5'- GGAAAAATAGCCATTTCCGTTGG -3'
Posted On 2017-08-16