Incidental Mutation 'R2127:Atp2b2'
ID 227610
Institutional Source Beutler Lab
Gene Symbol Atp2b2
Ensembl Gene ENSMUSG00000030302
Gene Name ATPase, Ca++ transporting, plasma membrane 2
Synonyms PMCA2, Gena300, wms, D6Abb2e, jog, Tmy
MMRRC Submission 040130-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R2127 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113720803-114019574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113737611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 921 (L921P)
Ref Sequence ENSEMBL: ENSMUSP00000145174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089003] [ENSMUST00000101044] [ENSMUST00000101045] [ENSMUST00000152831] [ENSMUST00000205052]
AlphaFold Q9R0K7
Predicted Effect probably damaging
Transcript: ENSMUST00000089003
AA Change: L925P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: L925P

DomainStartEndE-ValueType
Cation_ATPase_N 47 123 1.21e-4 SMART
Pfam:E1-E2_ATPase 156 444 1.7e-56 PFAM
Pfam:Hydrolase 448 787 3.9e-25 PFAM
Pfam:HAD 451 784 2.4e-16 PFAM
Pfam:Hydrolase_like2 497 593 9.4e-17 PFAM
Pfam:Hydrolase_3 745 820 1.7e-6 PFAM
transmembrane domain 833 855 N/A INTRINSIC
Pfam:Cation_ATPase_C 857 1039 7.3e-46 PFAM
low complexity region 1057 1070 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1081 1144 1.4e-31 PFAM
low complexity region 1151 1166 N/A INTRINSIC
low complexity region 1175 1189 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101044
AA Change: L970P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: L970P

DomainStartEndE-ValueType
Cation_ATPase_N 47 123 1.21e-4 SMART
Pfam:E1-E2_ATPase 155 307 4.2e-28 PFAM
low complexity region 313 330 N/A INTRINSIC
low complexity region 337 356 N/A INTRINSIC
Pfam:E1-E2_ATPase 373 488 1.4e-13 PFAM
Pfam:Hydrolase 493 832 8.1e-16 PFAM
Pfam:HAD 496 829 6.3e-21 PFAM
Pfam:Cation_ATPase 542 638 4.4e-17 PFAM
Pfam:Hydrolase_3 791 865 8.3e-7 PFAM
transmembrane domain 878 900 N/A INTRINSIC
Pfam:Cation_ATPase_C 902 1084 2.5e-47 PFAM
low complexity region 1102 1115 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1126 1178 2.4e-30 PFAM
low complexity region 1196 1211 N/A INTRINSIC
low complexity region 1220 1234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101045
AA Change: L925P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: L925P

DomainStartEndE-ValueType
Cation_ATPase_N 47 123 1.21e-4 SMART
Pfam:E1-E2_ATPase 156 444 1.7e-56 PFAM
Pfam:Hydrolase 448 787 3.9e-25 PFAM
Pfam:HAD 451 784 2.4e-16 PFAM
Pfam:Hydrolase_like2 497 593 9.4e-17 PFAM
Pfam:Hydrolase_3 745 820 1.7e-6 PFAM
transmembrane domain 833 855 N/A INTRINSIC
Pfam:Cation_ATPase_C 857 1039 7.3e-46 PFAM
low complexity region 1057 1070 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1081 1144 1.4e-31 PFAM
low complexity region 1151 1166 N/A INTRINSIC
low complexity region 1175 1189 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152831
AA Change: L925P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: L925P

DomainStartEndE-ValueType
Cation_ATPase_N 47 123 1.21e-4 SMART
Pfam:E1-E2_ATPase 156 444 6.1e-57 PFAM
Pfam:Hydrolase 448 787 1.4e-25 PFAM
Pfam:HAD 451 784 7.7e-17 PFAM
Pfam:Hydrolase_like2 497 593 4.4e-17 PFAM
Pfam:Hydrolase_3 745 820 4.2e-7 PFAM
transmembrane domain 833 855 N/A INTRINSIC
Pfam:Cation_ATPase_C 857 1039 2.7e-46 PFAM
low complexity region 1057 1070 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1081 1149 1.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205052
AA Change: L921P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: L921P

DomainStartEndE-ValueType
Cation_ATPase_N 47 123 1.21e-4 SMART
Pfam:E1-E2_ATPase 155 310 1.9e-28 PFAM
Pfam:E1-E2_ATPase 328 443 1.1e-13 PFAM
Pfam:HAD 451 780 2.7e-19 PFAM
Pfam:Cation_ATPase 497 593 5.8e-17 PFAM
Pfam:Hydrolase 576 783 2e-8 PFAM
Pfam:Hydrolase_3 711 816 2.3e-7 PFAM
transmembrane domain 829 851 N/A INTRINSIC
Pfam:Cation_ATPase_C 853 1035 2.5e-47 PFAM
low complexity region 1053 1066 N/A INTRINSIC
Pfam:ATP_Ca_trans_C 1077 1129 2.6e-30 PFAM
low complexity region 1147 1162 N/A INTRINSIC
low complexity region 1171 1185 N/A INTRINSIC
Meta Mutation Damage Score 0.9745 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (93/95)
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 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T A 5: 146,441,752 (GRCm39) S300T possibly damaging Het
A2ml1 A C 6: 128,535,400 (GRCm39) V770G probably damaging Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Abhd17c C A 7: 83,759,870 (GRCm39) G295W probably damaging Het
Actn3 G A 19: 4,921,703 (GRCm39) A159V probably damaging Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Agbl1 G T 7: 76,069,628 (GRCm39) V373F possibly damaging Het
Aldh1a1 A T 19: 20,620,279 (GRCm39) E485D probably benign Het
Amdhd2 A G 17: 24,377,282 (GRCm39) probably null Het
Armc3 A G 2: 19,206,622 (GRCm39) D15G probably damaging Het
Btbd16 A G 7: 130,386,038 (GRCm39) N88S probably benign Het
Capn10 T A 1: 92,865,756 (GRCm39) C77* probably null Het
Caskin1 T C 17: 24,715,970 (GRCm39) probably null Het
Catsper4 T C 4: 133,941,117 (GRCm39) D254G probably benign Het
Catsperg1 T C 7: 28,884,465 (GRCm39) D958G probably damaging Het
Ccar2 T G 14: 70,377,100 (GRCm39) K787Q probably benign Het
Ccdc191 C T 16: 43,728,998 (GRCm39) T244I probably benign Het
Cd33 A T 7: 43,179,699 (GRCm39) L243Q possibly damaging Het
Cdc37 T C 9: 21,061,143 (GRCm39) Y4C probably damaging Het
Cenpe T G 3: 134,945,541 (GRCm39) N1018K probably benign Het
Crocc G A 4: 140,744,407 (GRCm39) R1830C probably damaging Het
Csmd1 T C 8: 15,967,392 (GRCm39) D3157G probably damaging Het
Dhx57 C T 17: 80,580,477 (GRCm39) V492M probably damaging Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnhd1 C T 7: 105,342,928 (GRCm39) T1424I possibly damaging Het
Dsc3 C T 18: 20,101,411 (GRCm39) A661T probably benign Het
F930015N05Rik A G 11: 64,326,229 (GRCm39) probably benign Het
Fbxo34 C A 14: 47,767,563 (GRCm39) R308S probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm9742 A T 13: 8,085,011 (GRCm39) noncoding transcript Het
Gmeb2 G A 2: 180,900,842 (GRCm39) A185V probably benign Het
Gpr15 A G 16: 58,538,618 (GRCm39) V157A possibly damaging Het
Gpr3 C T 4: 132,937,932 (GRCm39) A247T probably damaging Het
Grin2b A C 6: 135,755,698 (GRCm39) S539A probably benign Het
Hmbs T C 9: 44,252,004 (GRCm39) T92A probably benign Het
Inpp4a A G 1: 37,406,000 (GRCm39) M173V probably benign Het
Irx4 T A 13: 73,413,595 (GRCm39) S22T probably benign Het
Jph3 C T 8: 122,511,881 (GRCm39) A623V probably benign Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Ksr1 G A 11: 78,924,139 (GRCm39) S361L probably damaging Het
Lyst T G 13: 13,809,847 (GRCm39) Y506D probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Megf8 T C 7: 25,064,007 (GRCm39) S2788P possibly damaging Het
Mfsd2b T A 12: 4,917,659 (GRCm39) Y129F probably benign Het
Mindy4 T C 6: 55,195,250 (GRCm39) S155P probably benign Het
Mospd4 A G 18: 46,598,731 (GRCm39) noncoding transcript Het
Myo18b A T 5: 112,978,944 (GRCm39) L1223Q probably damaging Het
Nckipsd A G 9: 108,688,932 (GRCm39) T156A probably benign Het
Ndst1 G A 18: 60,824,280 (GRCm39) T799I probably benign Het
Npffr2 A T 5: 89,715,924 (GRCm39) I84F probably damaging Het
Nphp3 G A 9: 103,885,442 (GRCm39) V167M probably damaging Het
Nup107 C A 10: 117,610,380 (GRCm39) R354L possibly damaging Het
Olfml2a T C 2: 38,831,699 (GRCm39) C93R probably damaging Het
Or12e10 A G 2: 87,640,685 (GRCm39) I174V probably benign Het
Or1e25 C G 11: 73,493,631 (GRCm39) S75C possibly damaging Het
Or5l14 A T 2: 87,793,176 (GRCm39) V20D probably benign Het
Pappa T A 4: 65,215,494 (GRCm39) L1134M probably damaging Het
Plscr4 T G 9: 92,370,683 (GRCm39) F217V possibly damaging Het
Pnpla8 T A 12: 44,354,840 (GRCm39) Y667N probably benign Het
Polg A G 7: 79,114,676 (GRCm39) L95P probably damaging Het
Psg20 T G 7: 18,416,643 (GRCm39) I158L probably damaging Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rdx A G 9: 51,981,032 (GRCm39) M305V possibly damaging Het
Rinl A G 7: 28,496,168 (GRCm39) E383G probably damaging Het
Ror1 A G 4: 100,299,290 (GRCm39) M888V probably benign Het
Rps12 A T 10: 23,662,776 (GRCm39) I22K possibly damaging Het
Rtca C A 3: 116,291,323 (GRCm39) R219L possibly damaging Het
Ryr2 G A 13: 11,727,081 (GRCm39) P2427S probably damaging Het
Slc10a6 A G 5: 103,756,922 (GRCm39) Y281H probably benign Het
Slc39a11 A G 11: 113,260,629 (GRCm39) S176P probably benign Het
Slfn10-ps A G 11: 82,921,168 (GRCm39) noncoding transcript Het
Spef2 T C 15: 9,729,747 (GRCm39) T124A possibly damaging Het
Sult2a4 G T 7: 13,649,185 (GRCm39) P207Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tcstv1a T C 13: 120,355,282 (GRCm39) T117A probably damaging Het
Tha1 A G 11: 117,760,600 (GRCm39) V208A probably damaging Het
Tmbim4 T A 10: 120,060,658 (GRCm39) I215N probably damaging Het
Tmem202 T A 9: 59,427,483 (GRCm39) I122F probably benign Het
Tomm70a T C 16: 56,942,234 (GRCm39) S4P unknown Het
Tpcn2 A G 7: 144,827,712 (GRCm39) probably benign Het
Trim36 A T 18: 46,345,404 (GRCm39) F10I probably benign Het
Usp30 A G 5: 114,249,224 (GRCm39) E176G probably damaging Het
Usp8 T G 2: 126,579,495 (GRCm39) probably null Het
Vmn1r32 T A 6: 66,530,533 (GRCm39) Y81F probably benign Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wdr87-ps T C 7: 29,236,565 (GRCm39) noncoding transcript Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zfp319 A T 8: 96,050,391 (GRCm39) probably benign Het
Zfp408 T C 2: 91,475,519 (GRCm39) E545G probably damaging Het
Zfp799 C T 17: 33,038,472 (GRCm39) R598Q possibly damaging Het
Zfp831 T C 2: 174,489,917 (GRCm39) V1228A probably benign Het
Zfp938 T C 10: 82,061,876 (GRCm39) D248G probably benign Het
Other mutations in Atp2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Atp2b2 APN 6 113,782,476 (GRCm39) missense possibly damaging 0.69
IGL01140:Atp2b2 APN 6 113,766,932 (GRCm39) missense possibly damaging 0.94
IGL02065:Atp2b2 APN 6 113,790,828 (GRCm39) missense probably damaging 1.00
IGL02267:Atp2b2 APN 6 113,770,691 (GRCm39) missense probably damaging 1.00
IGL02383:Atp2b2 APN 6 113,790,903 (GRCm39) missense probably damaging 0.99
IGL02498:Atp2b2 APN 6 113,770,815 (GRCm39) missense probably damaging 0.99
IGL02631:Atp2b2 APN 6 113,725,506 (GRCm39) missense probably damaging 1.00
IGL03028:Atp2b2 APN 6 113,736,103 (GRCm39) missense probably damaging 0.99
IGL03221:Atp2b2 APN 6 113,737,820 (GRCm39) splice site probably benign
IGL03290:Atp2b2 APN 6 113,770,715 (GRCm39) missense probably damaging 1.00
johan UTSW 6 113,750,349 (GRCm39) missense probably damaging 1.00
lohan UTSW 6 113,737,611 (GRCm39) missense probably damaging 1.00
IGL02799:Atp2b2 UTSW 6 113,739,813 (GRCm39) nonsense probably null
R0116:Atp2b2 UTSW 6 113,770,656 (GRCm39) missense probably damaging 1.00
R0131:Atp2b2 UTSW 6 113,770,743 (GRCm39) missense probably damaging 1.00
R0131:Atp2b2 UTSW 6 113,770,743 (GRCm39) missense probably damaging 1.00
R0132:Atp2b2 UTSW 6 113,770,743 (GRCm39) missense probably damaging 1.00
R0195:Atp2b2 UTSW 6 113,770,835 (GRCm39) missense probably benign 0.07
R0421:Atp2b2 UTSW 6 113,790,849 (GRCm39) missense probably damaging 1.00
R0791:Atp2b2 UTSW 6 113,750,349 (GRCm39) missense probably damaging 1.00
R0792:Atp2b2 UTSW 6 113,750,349 (GRCm39) missense probably damaging 1.00
R1033:Atp2b2 UTSW 6 113,770,849 (GRCm39) splice site probably null
R1248:Atp2b2 UTSW 6 113,794,153 (GRCm39) missense probably damaging 1.00
R1524:Atp2b2 UTSW 6 113,751,162 (GRCm39) splice site probably benign
R1809:Atp2b2 UTSW 6 113,780,704 (GRCm39) intron probably benign
R1829:Atp2b2 UTSW 6 113,750,329 (GRCm39) missense probably damaging 1.00
R1854:Atp2b2 UTSW 6 113,819,244 (GRCm39) missense probably damaging 1.00
R2138:Atp2b2 UTSW 6 113,773,268 (GRCm39) missense probably benign 0.21
R2351:Atp2b2 UTSW 6 113,766,718 (GRCm39) missense possibly damaging 0.91
R3923:Atp2b2 UTSW 6 113,774,069 (GRCm39) critical splice donor site probably null
R3951:Atp2b2 UTSW 6 113,737,792 (GRCm39) missense possibly damaging 0.51
R4178:Atp2b2 UTSW 6 113,770,679 (GRCm39) missense probably damaging 1.00
R4353:Atp2b2 UTSW 6 113,742,745 (GRCm39) missense probably benign 0.01
R4578:Atp2b2 UTSW 6 113,737,672 (GRCm39) missense probably damaging 1.00
R4797:Atp2b2 UTSW 6 113,766,847 (GRCm39) missense possibly damaging 0.92
R4884:Atp2b2 UTSW 6 113,819,147 (GRCm39) missense possibly damaging 0.65
R4976:Atp2b2 UTSW 6 113,736,122 (GRCm39) missense probably damaging 1.00
R5273:Atp2b2 UTSW 6 113,736,193 (GRCm39) missense probably damaging 1.00
R5350:Atp2b2 UTSW 6 113,736,199 (GRCm39) missense probably damaging 0.99
R5414:Atp2b2 UTSW 6 113,819,102 (GRCm39) missense probably damaging 1.00
R5560:Atp2b2 UTSW 6 113,751,319 (GRCm39) missense possibly damaging 0.90
R5589:Atp2b2 UTSW 6 113,751,400 (GRCm39) missense possibly damaging 0.94
R5790:Atp2b2 UTSW 6 113,736,270 (GRCm39) missense probably damaging 0.97
R6001:Atp2b2 UTSW 6 113,770,728 (GRCm39) missense probably damaging 1.00
R6127:Atp2b2 UTSW 6 113,790,838 (GRCm39) missense probably damaging 1.00
R6331:Atp2b2 UTSW 6 113,774,092 (GRCm39) missense probably benign 0.01
R6925:Atp2b2 UTSW 6 113,737,681 (GRCm39) missense probably damaging 1.00
R7231:Atp2b2 UTSW 6 113,742,693 (GRCm39) missense possibly damaging 0.89
R8219:Atp2b2 UTSW 6 113,770,811 (GRCm39) missense probably damaging 1.00
R8233:Atp2b2 UTSW 6 113,742,680 (GRCm39) critical splice donor site probably null
R8286:Atp2b2 UTSW 6 113,819,275 (GRCm39) missense possibly damaging 0.64
R8369:Atp2b2 UTSW 6 113,790,747 (GRCm39) critical splice donor site probably null
R8444:Atp2b2 UTSW 6 113,770,772 (GRCm39) missense probably benign 0.18
R8942:Atp2b2 UTSW 6 113,790,991 (GRCm39) missense probably benign 0.00
R8953:Atp2b2 UTSW 6 113,737,630 (GRCm39) missense possibly damaging 0.82
R8977:Atp2b2 UTSW 6 113,750,325 (GRCm39) missense probably damaging 1.00
R9051:Atp2b2 UTSW 6 113,740,566 (GRCm39) missense probably damaging 1.00
R9399:Atp2b2 UTSW 6 113,780,713 (GRCm39) missense probably benign
R9648:Atp2b2 UTSW 6 113,780,707 (GRCm39) critical splice donor site probably null
X0020:Atp2b2 UTSW 6 113,782,461 (GRCm39) missense probably damaging 1.00
X0020:Atp2b2 UTSW 6 113,782,460 (GRCm39) missense probably damaging 1.00
Z1088:Atp2b2 UTSW 6 113,819,267 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTACTGCTGGCTTTGAGG -3'
(R):5'- AGATGCTCTGGGTGAACCTC -3'

Sequencing Primer
(F):5'- ACAGGGCATGACAACTTCTG -3'
(R):5'- GTGAACCTCATCATGGACACGTTTG -3'
Posted On 2014-09-17