Incidental Mutation 'IGL02065:Atp2b2'
ID 185604
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02065
Quality Score
Status
Chromosome 6
Chromosomal Location 113720803-114019574 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113790828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 192 (F192S)
Ref Sequence ENSEMBL: ENSMUSP00000138165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089003] [ENSMUST00000101044] [ENSMUST00000101045] [ENSMUST00000152831] [ENSMUST00000205052]
AlphaFold Q9R0K7
Predicted Effect possibly damaging
Transcript: ENSMUST00000089003
AA Change: F192S

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: F192S

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 possibly damaging
Transcript: ENSMUST00000101044
AA Change: F192S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: F192S

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 possibly damaging
Transcript: ENSMUST00000101045
AA Change: F192S

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: F192S

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 noncoding transcript
Transcript: ENSMUST00000135199
Predicted Effect probably damaging
Transcript: ENSMUST00000152831
AA Change: F192S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: F192S

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: F192S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: F192S

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,827 (GRCm39) E770K possibly damaging Het
Abhd17a C A 10: 80,422,395 (GRCm39) A22S probably benign Het
Actbl2 A G 13: 111,392,225 (GRCm39) T187A probably benign Het
Adgrl3 G A 5: 81,660,064 (GRCm39) G278R probably damaging Het
Apoh C A 11: 108,305,131 (GRCm39) probably benign Het
Bdh1 T C 16: 31,268,754 (GRCm39) I163T possibly damaging Het
Bmp1 G T 14: 70,723,660 (GRCm39) N725K probably damaging Het
Bmp1 T A 14: 70,727,547 (GRCm39) I679F probably damaging Het
Bmp2 T A 2: 133,402,844 (GRCm39) F132I probably benign Het
Bpifb5 T C 2: 154,069,103 (GRCm39) L140P probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil3 T C 14: 55,731,279 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,586 (GRCm39) T730A possibly damaging Het
Cdh10 G T 15: 19,013,342 (GRCm39) K647N probably damaging Het
Cdh17 A C 4: 11,771,373 (GRCm39) probably benign Het
Cep126 A G 9: 8,099,925 (GRCm39) S870P probably benign Het
Col6a4 T C 9: 105,954,302 (GRCm39) T346A probably damaging Het
Csmd3 A C 15: 47,530,024 (GRCm39) V2592G probably damaging Het
Dnajc16 A T 4: 141,504,244 (GRCm39) F239I probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
F5 G A 1: 164,017,695 (GRCm39) V591M probably damaging Het
Fchsd2 T G 7: 100,826,429 (GRCm39) probably null Het
Flad1 A T 3: 89,316,294 (GRCm39) D89E probably damaging Het
Fsd1 C A 17: 56,303,499 (GRCm39) P457Q probably damaging Het
Gm21985 A G 2: 112,187,929 (GRCm39) D1012G possibly damaging Het
Gon4l A G 3: 88,764,517 (GRCm39) D366G probably null Het
Hadha A G 5: 30,347,843 (GRCm39) probably benign Het
Kdr A G 5: 76,122,513 (GRCm39) probably benign Het
Kyat3 A G 3: 142,426,136 (GRCm39) K24R probably benign Het
Map3k21 A G 8: 126,668,397 (GRCm39) D661G probably benign Het
Mical1 A T 10: 41,360,407 (GRCm39) K615N possibly damaging Het
Ncor1 T C 11: 62,310,435 (GRCm39) K204E possibly damaging Het
Nmral1 T A 16: 4,534,346 (GRCm39) I32F probably benign Het
Nrros T C 16: 31,963,492 (GRCm39) D175G possibly damaging Het
Or10ak8 G A 4: 118,773,968 (GRCm39) T232I probably benign Het
Or12j5 T C 7: 140,084,077 (GRCm39) I98M probably benign Het
Ryr2 A G 13: 11,587,143 (GRCm39) F4713L possibly damaging Het
Serpinb1b G A 13: 33,275,301 (GRCm39) G142D possibly damaging Het
Slc10a1 A G 12: 81,007,248 (GRCm39) S178P possibly damaging Het
Spint1 G A 2: 119,068,698 (GRCm39) R144H probably benign Het
Sult6b1 C T 17: 79,196,504 (GRCm39) G213R probably damaging Het
Themis3 G T 17: 66,862,900 (GRCm39) H353N probably benign Het
Tpr T C 1: 150,289,525 (GRCm39) S619P probably benign Het
Ttn A T 2: 76,645,134 (GRCm39) V11161E probably damaging Het
Usp13 G A 3: 32,987,314 (GRCm39) V837I probably damaging Het
Usp25 T C 16: 76,880,670 (GRCm39) V677A probably benign Het
Wdr62 A G 7: 29,942,894 (GRCm39) V1001A possibly damaging Het
Whrn A T 4: 63,336,822 (GRCm39) I580N possibly damaging Het
Wls T A 3: 159,616,993 (GRCm39) V344D probably damaging Het
Zan A T 5: 137,385,222 (GRCm39) Y5070* probably null 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
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
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
Posted On 2014-05-07