Incidental Mutation 'R5350:Atp2b2'
ID 423752
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 042929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R5350 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113720803-114019574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113736199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 960 (M960K)
Ref Sequence ENSEMBL: ENSMUSP00000098606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089003] [ENSMUST00000101044] [ENSMUST00000101045] [ENSMUST00000152831] [ENSMUST00000205052]
AlphaFold Q9R0K7
Predicted Effect probably damaging
Transcript: ENSMUST00000089003
AA Change: M960K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: M960K

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: M1005K

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: M1005K

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: M960K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: M960K

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: M960K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: M960K

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: M956K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: M956K

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Abca9 A G 11: 110,006,364 (GRCm39) V1247A probably benign Het
Acaca A T 11: 84,106,699 (GRCm39) M133L probably damaging Het
Acacb C T 5: 114,382,612 (GRCm39) A2100V probably damaging Het
Adamts16 T A 13: 70,901,315 (GRCm39) K921* probably null Het
Ankrd55 T G 13: 112,472,760 (GRCm39) V144G probably damaging Het
Arap3 A G 18: 38,115,088 (GRCm39) L976P probably damaging Het
Atg2a T A 19: 6,301,368 (GRCm39) V814E probably damaging Het
Bag1 C T 4: 40,948,007 (GRCm39) G66S possibly damaging Het
Bmp8a A T 4: 123,207,088 (GRCm39) M391K probably damaging Het
Capns1 C A 7: 29,889,551 (GRCm39) R216L probably damaging Het
Cdk13 T C 13: 17,978,515 (GRCm39) probably benign Het
Cmtm3 T C 8: 105,070,465 (GRCm39) F75L probably damaging Het
Cops4 T A 5: 100,666,405 (GRCm39) D21E possibly damaging Het
Dach1 G T 14: 98,207,395 (GRCm39) A318E probably damaging Het
Ddx27 A G 2: 166,869,780 (GRCm39) probably benign Het
Disp2 A G 2: 118,618,056 (GRCm39) T201A probably benign Het
Dnah2 G T 11: 69,406,862 (GRCm39) D214E possibly damaging Het
Dnah7b G T 1: 46,272,849 (GRCm39) G2326C probably benign Het
Dusp5 T C 19: 53,529,665 (GRCm39) F356S probably damaging Het
Duxf3 C A 10: 58,066,915 (GRCm39) S528I probably damaging Het
Ell T A 8: 70,992,439 (GRCm39) V28E probably damaging Het
Evi5 C T 5: 107,963,544 (GRCm39) D344N probably benign Het
Fv1 G T 4: 147,954,546 (GRCm39) V371L possibly damaging Het
Gemin5 A G 11: 58,032,412 (GRCm39) probably null Het
Glce A T 9: 61,967,587 (GRCm39) Y521* probably null Het
Grn T A 11: 102,327,070 (GRCm39) L556Q possibly damaging Het
Icam1 C A 9: 20,939,182 (GRCm39) Y518* probably null Het
Jag2 A T 12: 112,872,542 (GRCm39) S1237R possibly damaging Het
Macf1 A T 4: 123,421,251 (GRCm39) M1K probably null Het
Nbea T C 3: 55,926,845 (GRCm39) E786G probably damaging Het
Nr4a2 A G 2: 57,001,877 (GRCm39) M192T probably damaging Het
Or2v2 T C 11: 49,003,879 (GRCm39) T225A probably benign Het
Or4a73 T A 2: 89,421,432 (GRCm39) E9V possibly damaging Het
Or52s1b T A 7: 102,822,766 (GRCm39) H26L probably damaging Het
Or7e169 A T 9: 19,757,912 (GRCm39) M1K probably null Het
Pcnx4 A C 12: 72,626,138 (GRCm39) N1115H probably damaging Het
Ppargc1b A G 18: 61,442,134 (GRCm39) S585P possibly damaging Het
Ppip5k2 C T 1: 97,648,853 (GRCm39) S1024N probably damaging Het
Prkar1b C T 5: 139,092,383 (GRCm39) E145K probably damaging Het
Psd3 T A 8: 68,361,513 (GRCm39) T539S probably benign Het
Rit2 A G 18: 31,449,905 (GRCm39) V31A probably damaging Het
Rps6kc1 G A 1: 190,531,663 (GRCm39) P780S probably benign Het
Serpina6 G T 12: 103,614,838 (GRCm39) T336K possibly damaging Het
Smo A T 6: 29,754,466 (GRCm39) Q232L probably benign Het
Stx2 T C 5: 129,068,155 (GRCm39) D184G probably damaging Het
Tmprss11d T C 5: 86,486,746 (GRCm39) Y48C probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging 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
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'- TGCACGATCACTATCTGCG -3'
(R):5'- ATTGTCTCACTAAGCAGGAACC -3'

Sequencing Primer
(F):5'- ACGATCACTATCTGCGGGTCAG -3'
(R):5'- GTCTCACTAAGCAGGAACCACAGG -3'
Posted On 2016-08-04