Incidental Mutation 'R8942:Atp2b2'
ID 681041
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R8942 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 113720803-114019574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 113790991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 138 (Q138K)
Ref Sequence ENSEMBL: ENSMUSP00000138165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089003] [ENSMUST00000101044] [ENSMUST00000101045] [ENSMUST00000152831] [ENSMUST00000205052]
AlphaFold Q9R0K7
Predicted Effect probably benign
Transcript: ENSMUST00000089003
AA Change: Q138K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: Q138K

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 benign
Transcript: ENSMUST00000101044
AA Change: Q138K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: Q138K

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 benign
Transcript: ENSMUST00000101045
AA Change: Q138K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: Q138K

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 benign
Transcript: ENSMUST00000152831
AA Change: Q138K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: Q138K

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 benign
Transcript: ENSMUST00000205052
AA Change: Q138K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: Q138K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,732 (GRCm39) D833E probably damaging Het
Adgrl3 A T 5: 81,796,568 (GRCm39) I626L probably benign Het
AI182371 A C 2: 34,990,622 (GRCm39) L25R probably damaging Het
Atp8b5 T C 4: 43,353,658 (GRCm39) F491L probably damaging Het
Bcap29 T A 12: 31,684,353 (GRCm39) M1L probably damaging Het
C1qtnf7 A G 5: 43,773,583 (GRCm39) D294G probably benign Het
Ccdc170 C T 10: 4,484,044 (GRCm39) A290V probably benign Het
Cfhr2 A T 1: 139,741,292 (GRCm39) L228I probably benign Het
Clip4 T A 17: 72,170,768 (GRCm39) V645D probably benign Het
Cyp4a31 C T 4: 115,426,918 (GRCm39) R173W possibly damaging Het
Dis3l T C 9: 64,214,875 (GRCm39) K898R probably benign Het
Efr3b G T 12: 4,032,091 (GRCm39) H172Q possibly damaging Het
Eipr1 A T 12: 28,917,053 (GRCm39) N374Y probably damaging Het
Exoc3l4 A T 12: 111,392,002 (GRCm39) E414D possibly damaging Het
Exoc3l4 G T 12: 111,392,003 (GRCm39) V415L probably benign Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Gapvd1 T C 2: 34,619,134 (GRCm39) T80A probably benign Het
Gen1 A G 12: 11,292,287 (GRCm39) S501P probably benign Het
Gm10643 A G 8: 84,790,799 (GRCm39) probably benign Het
Hecw1 A T 13: 14,481,395 (GRCm39) V445D probably benign Het
Hells CT C 19: 38,942,045 (GRCm39) probably null Het
Hnrnpr T G 4: 136,059,791 (GRCm39) D197E possibly damaging Het
Hspb1 G A 5: 135,916,928 (GRCm39) V6M probably damaging Het
Iglon5 A G 7: 43,126,315 (GRCm39) V196A probably benign Het
Ints2 T C 11: 86,103,720 (GRCm39) T1142A probably benign Het
Katnip T G 7: 125,449,975 (GRCm39) L1013R probably damaging Het
Kcnq2 T A 2: 180,724,244 (GRCm39) D587V probably damaging Het
Lmln C T 16: 32,901,330 (GRCm39) P242L probably damaging Het
Mapt G A 11: 104,173,307 (GRCm39) probably null Het
Mrgpre T C 7: 143,335,002 (GRCm39) Y167C Het
Mtx2 A T 2: 74,699,696 (GRCm39) I156F probably benign Het
Nipbl A T 15: 8,381,104 (GRCm39) S563T probably benign Het
Nmbr C T 10: 14,646,197 (GRCm39) S357L probably benign Het
Or10ak14 A T 4: 118,611,594 (GRCm39) I49N possibly damaging Het
Or4e1 A C 14: 52,700,692 (GRCm39) I258S probably damaging Het
Or4f14 T A 2: 111,743,207 (GRCm39) I23F probably benign Het
Or4f60 T C 2: 111,902,802 (GRCm39) N42S probably damaging Het
Or4k15b A C 14: 50,272,602 (GRCm39) L86R probably damaging Het
Or4p4 C T 2: 88,483,308 (GRCm39) L271F possibly damaging Het
Pctp A G 11: 89,875,554 (GRCm39) M203T possibly damaging Het
Pip4k2c A G 10: 127,036,084 (GRCm39) V261A probably benign Het
Pm20d1 G T 1: 131,739,785 (GRCm39) V378F possibly damaging Het
Ppcdc C T 9: 57,342,265 (GRCm39) R19H probably benign Het
Pramel26 T C 4: 143,536,861 (GRCm39) N490S probably benign Het
Sdk1 A G 5: 142,082,598 (GRCm39) E1332G probably damaging Het
Sgce G T 6: 4,730,027 (GRCm39) L66M probably benign Het
Sycp2l G T 13: 41,277,522 (GRCm39) probably null Het
Tars1 G T 15: 11,384,183 (GRCm39) H695N probably benign Het
Tdo2 A G 3: 81,876,851 (GRCm39) V107A probably benign Het
Tmem131l A T 3: 83,805,793 (GRCm39) M1550K possibly damaging Het
Ttf2 A C 3: 100,869,042 (GRCm39) S431R probably benign Het
Unc80 A G 1: 66,512,468 (GRCm39) D126G possibly damaging Het
Usp17lb C T 7: 104,490,583 (GRCm39) V115I possibly damaging Het
Vezf1 A G 11: 87,972,553 (GRCm39) T305A probably benign Het
Vmn1r45 A T 6: 89,910,876 (GRCm39) N31K probably benign Het
Wdr59 T C 8: 112,211,808 (GRCm39) K380E probably benign Het
Xylt1 T A 7: 117,233,971 (GRCm39) Y499* probably null Het
Zfp777 T C 6: 48,006,125 (GRCm39) E467G probably benign Het
Zkscan4 C A 13: 21,668,680 (GRCm39) P406Q 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
R2127:Atp2b2 UTSW 6 113,737,611 (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
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'- CAGTGAACTTCTGCTCCTGC -3'
(R):5'- AAAGCGTGTCTCACAGCTGG -3'

Sequencing Primer
(F):5'- GCTCAATTCGGCTCTGCAG -3'
(R):5'- CTTGGGAAGTTAGTAGACCCCTC -3'
Posted On 2021-08-31