Incidental Mutation 'R0279:Atp2b4'
ID 24512
Institutional Source Beutler Lab
Gene Symbol Atp2b4
Ensembl Gene ENSMUSG00000026463
Gene Name ATPase, Ca++ transporting, plasma membrane 4
Synonyms PMCA4
MMRRC Submission 038501-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.440) question?
Stock # R0279 (G1)
Quality Score 174
Status Validated
Chromosome 1
Chromosomal Location 133630411-133728797 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 133657440 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 benign
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 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 benign
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183597
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A T 4: 118,386,490 (GRCm39) M1L probably benign Het
5730596B20Rik T A 6: 52,156,182 (GRCm39) probably benign Het
Acrbp T C 6: 125,030,917 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acss3 A G 10: 106,920,732 (GRCm39) I126T possibly damaging Het
Aff3 T C 1: 38,574,650 (GRCm39) E110G probably damaging Het
Aldh1a3 T C 7: 66,059,000 (GRCm39) I113V probably benign Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Atp8a1 C T 5: 67,970,435 (GRCm39) probably null Het
Bhmt A G 13: 93,761,972 (GRCm39) C104R probably damaging Het
Cct5 T G 15: 31,591,177 (GRCm39) E508A probably damaging Het
Celsr1 T A 15: 85,787,065 (GRCm39) E2761D probably benign Het
Clstn1 T C 4: 149,728,131 (GRCm39) S600P probably damaging Het
Cnppd1 A G 1: 75,113,573 (GRCm39) S232P probably damaging Het
Crybb3 T C 5: 113,227,619 (GRCm39) probably null Het
Csmd1 A G 8: 16,273,249 (GRCm39) I861T probably damaging Het
Cyp2d10 A C 15: 82,289,540 (GRCm39) S191A possibly damaging Het
Ddx10 T C 9: 53,146,604 (GRCm39) D206G probably damaging Het
Dnah1 G T 14: 31,024,332 (GRCm39) H916N possibly damaging Het
Dnah9 A G 11: 65,802,615 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Etnppl A G 3: 130,423,062 (GRCm39) R248G probably damaging Het
Eya3 T C 4: 132,446,558 (GRCm39) F369L probably damaging Het
Fam170b T C 14: 32,556,025 (GRCm39) probably benign Het
Fli1 A T 9: 32,372,723 (GRCm39) V105D probably damaging Het
Fmo1 T C 1: 162,657,841 (GRCm39) I433M possibly damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Foxe3 T C 4: 114,782,765 (GRCm39) D149G probably damaging Het
Gk5 T C 9: 96,056,857 (GRCm39) probably benign Het
Gm14226 A G 2: 154,867,372 (GRCm39) D443G possibly damaging Het
Gm9796 C T 11: 95,588,821 (GRCm39) noncoding transcript Het
Golga4 A T 9: 118,398,061 (GRCm39) R52S probably benign Het
Hey2 C A 10: 30,710,006 (GRCm39) C249F probably damaging Het
Ipo9 A T 1: 135,348,101 (GRCm39) probably benign Het
Ireb2 C A 9: 54,793,877 (GRCm39) T269K probably benign Het
Kansl3 A G 1: 36,391,050 (GRCm39) V274A probably damaging Het
Kcnk2 C T 1: 188,942,169 (GRCm39) A352T possibly damaging Het
Lamc2 T C 1: 153,006,442 (GRCm39) E903G probably benign Het
Lepr A G 4: 101,607,541 (GRCm39) K253R probably benign Het
Lmntd2 T C 7: 140,793,536 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,371,952 (GRCm39) T240S probably benign Het
Lrrc43 A G 5: 123,635,085 (GRCm39) probably null Het
Maf T C 8: 116,432,495 (GRCm39) M370V possibly damaging Het
Mib2 G A 4: 155,745,673 (GRCm39) S46L possibly damaging Het
Mms22l C T 4: 24,497,867 (GRCm39) T63I probably damaging Het
Morc2a T A 11: 3,633,989 (GRCm39) S700R probably benign Het
Mpz A G 1: 170,987,498 (GRCm39) probably benign Het
Ncam2 T C 16: 81,420,225 (GRCm39) probably benign Het
Niban1 T C 1: 151,584,957 (GRCm39) probably null Het
Nudt14 C T 12: 112,902,037 (GRCm39) A123T probably damaging Het
Odad3 A G 9: 21,901,543 (GRCm39) probably benign Het
Or10h1 C T 17: 33,418,298 (GRCm39) T92I probably benign Het
Or2a7 G A 6: 43,151,692 (GRCm39) M257I probably benign Het
Or9g20 A T 2: 85,629,879 (GRCm39) I245N possibly damaging Het
Otoa T C 7: 120,710,302 (GRCm39) probably benign Het
Pik3cg G A 12: 32,254,790 (GRCm39) T399I probably damaging Het
Pkn3 C T 2: 29,973,309 (GRCm39) A377V probably benign Het
Ppan A G 9: 20,802,825 (GRCm39) N327S probably benign Het
Prkca T C 11: 107,944,937 (GRCm39) probably benign Het
Prrc2c A T 1: 162,543,033 (GRCm39) V320E probably damaging Het
Ptprq A G 10: 107,444,278 (GRCm39) V1442A probably damaging Het
Rapgef1 C T 2: 29,616,239 (GRCm39) R834C probably damaging Het
Rbms1 G T 2: 60,672,754 (GRCm39) N44K probably damaging Het
Rfwd3 A C 8: 112,009,365 (GRCm39) F404V probably benign Het
Rimbp3 G T 16: 17,027,317 (GRCm39) R247L probably benign Het
Serpinb1b T C 13: 33,277,696 (GRCm39) S310P possibly damaging Het
Smtn C A 11: 3,480,235 (GRCm39) V329L probably damaging Het
Snapc2 T C 8: 4,304,979 (GRCm39) probably benign Het
Spam1 A T 6: 24,800,418 (GRCm39) M386L probably benign Het
Syne2 A G 12: 76,142,387 (GRCm39) E6208G probably damaging Het
Teddm1a T C 1: 153,768,369 (GRCm39) Y278H probably damaging Het
Tnfaip6 A T 2: 51,945,928 (GRCm39) N258I possibly damaging Het
Trpm4 C T 7: 44,971,472 (GRCm39) R188Q probably damaging Het
Ttbk2 A T 2: 120,579,441 (GRCm39) H491Q probably benign Het
Urgcp C T 11: 5,666,989 (GRCm39) E450K probably benign Het
Vmn1r228 T C 17: 20,996,637 (GRCm39) N294D probably benign Het
Wdfy3 A T 5: 102,015,958 (GRCm39) C2606S probably damaging Het
Wdr33 T A 18: 32,021,377 (GRCm39) H642Q unknown Het
Zbtb46 A G 2: 181,053,567 (GRCm39) S382P possibly damaging Het
Zfp217 A G 2: 169,961,700 (GRCm39) I209T probably benign Het
Zranb3 T A 1: 127,891,510 (GRCm39) N822I 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
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
R9657:Atp2b4 UTSW 1 133,656,478 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCTGCCCCTTGGATACCATAAAC -3'
(R):5'- TGGTACGCAATGTCATTGAGCCC -3'

Sequencing Primer
(F):5'- CTCTGTAAGTGACAAGTAGTTAGGC -3'
(R):5'- GTGAAATCCTCACTTCGCTG -3'
Posted On 2013-04-16