Incidental Mutation 'R8088:Atp2c1'
ID 651980
Institutional Source Beutler Lab
Gene Symbol Atp2c1
Ensembl Gene ENSMUSG00000032570
Gene Name ATPase, Ca++-sequestering
Synonyms ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1
MMRRC Submission 067521-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R8088 (G1)
Quality Score 187.009
Status Validated
Chromosome 9
Chromosomal Location 105288561-105398456 bp(-) (GRCm39)
Type of Mutation splice site (206 bp from exon)
DNA Base Change (assembly) A to T at 105329768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038118] [ENSMUST00000085133] [ENSMUST00000112558] [ENSMUST00000163879] [ENSMUST00000176190] [ENSMUST00000176363] [ENSMUST00000176651] [ENSMUST00000176770] [ENSMUST00000177074] [ENSMUST00000177293]
AlphaFold Q80XR2
Predicted Effect probably null
Transcript: ENSMUST00000038118
SMART Domains Protein: ENSMUSP00000039103
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 25 99 1.85e-14 SMART
Pfam:E1-E2_ATPase 105 339 2.3e-75 PFAM
Pfam:Hydrolase 343 655 2.9e-31 PFAM
Pfam:HAD 346 652 7.7e-15 PFAM
Pfam:Hydrolase_like2 408 492 9.5e-20 PFAM
low complexity region 706 721 N/A INTRINSIC
Pfam:Cation_ATPase_C 725 897 4e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000085133
SMART Domains Protein: ENSMUSP00000082220
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 59 133 1.85e-14 SMART
Pfam:E1-E2_ATPase 138 372 3.4e-62 PFAM
Pfam:Hydrolase 377 689 2.6e-23 PFAM
Pfam:HAD 380 686 7.8e-14 PFAM
Pfam:Cation_ATPase 442 526 3.2e-19 PFAM
low complexity region 740 755 N/A INTRINSIC
Pfam:Cation_ATPase_C 759 931 3.8e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112558
SMART Domains Protein: ENSMUSP00000108177
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 25 99 1.85e-14 SMART
Pfam:E1-E2_ATPase 105 339 2.3e-75 PFAM
Pfam:Hydrolase 343 655 2.9e-31 PFAM
Pfam:HAD 346 652 7.7e-15 PFAM
Pfam:Hydrolase_like2 408 492 9.5e-20 PFAM
low complexity region 706 721 N/A INTRINSIC
Pfam:Cation_ATPase_C 725 897 4e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163879
SMART Domains Protein: ENSMUSP00000129617
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 9 83 1.85e-14 SMART
Pfam:E1-E2_ATPase 89 323 5.2e-76 PFAM
Pfam:Hydrolase 327 639 5.6e-32 PFAM
Pfam:HAD 330 636 1.4e-15 PFAM
Pfam:Hydrolase_like2 392 476 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176190
SMART Domains Protein: ENSMUSP00000135320
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 9 83 1.85e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176363
SMART Domains Protein: ENSMUSP00000135170
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 29 103 1.85e-14 SMART
Pfam:E1-E2_ATPase 109 231 3e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176651
SMART Domains Protein: ENSMUSP00000135732
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 9 83 1.85e-14 SMART
Pfam:E1-E2_ATPase 89 253 6.4e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176770
SMART Domains Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 100 334 8.9e-76 PFAM
Pfam:Hydrolase 338 650 1.1e-31 PFAM
Pfam:HAD 341 647 2.7e-15 PFAM
Pfam:Hydrolase_like2 403 487 4.8e-20 PFAM
low complexity region 701 716 N/A INTRINSIC
Pfam:Cation_ATPase_C 720 892 1.6e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177074
SMART Domains Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Cation_ATPase_N 25 99 1.85e-14 SMART
Pfam:E1-E2_ATPase 105 339 8.2e-76 PFAM
Pfam:Hydrolase 343 655 1e-31 PFAM
Pfam:HAD 346 652 2.5e-15 PFAM
Pfam:Hydrolase_like2 408 492 4.5e-20 PFAM
low complexity region 706 721 N/A INTRINSIC
Pfam:Cation_ATPase_C 725 886 7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177293
SMART Domains Protein: ENSMUSP00000135802
Gene: ENSMUSG00000032570

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 1 203 6.7e-64 PFAM
Pfam:Hydrolase 207 519 7.4e-32 PFAM
Pfam:HAD 210 516 1.9e-15 PFAM
Pfam:Hydrolase_like2 272 356 3.8e-20 PFAM
transmembrane domain 564 586 N/A INTRINSIC
Pfam:Cation_ATPase_C 589 761 1.2e-47 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 100% (69/69)
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 cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, failure of rostral neural tube closure, Golgi and endoplasmic reticulum stress, increased apoptosis, accumulation of intracellular lipid droplets and midgestational lethality. Agedheterozygotes develop squamous cell tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc134 T A 15: 82,015,990 (GRCm39) probably benign Het
Ccdc162 G T 10: 41,499,410 (GRCm39) H1066Q possibly damaging Het
Ccna1 A G 3: 54,958,492 (GRCm39) S64P probably benign Het
Cplane1 A G 15: 8,215,802 (GRCm39) M453V probably benign Het
Defb12 T C 8: 19,162,837 (GRCm39) probably null Het
Dhx9 C A 1: 153,338,443 (GRCm39) V738L probably benign Het
Dnah10 A G 5: 124,831,330 (GRCm39) N843S probably benign Het
Dspp A G 5: 104,325,122 (GRCm39) D495G unknown Het
Dus2 A G 8: 106,757,073 (GRCm39) M88V probably benign Het
Dusp13b A G 14: 21,791,305 (GRCm39) V49A probably benign Het
Efcab3 A T 11: 104,889,072 (GRCm39) I4163L probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Entpd3 A C 9: 120,383,239 (GRCm39) R91S probably benign Het
Fam83c C A 2: 155,673,559 (GRCm39) V210F probably damaging Het
Flot1 G A 17: 36,140,870 (GRCm39) A287T probably damaging Het
Gm19410 A G 8: 36,273,995 (GRCm39) K1412E probably benign Het
Gsn G A 2: 35,182,659 (GRCm39) V241M possibly damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Heatr5a T C 12: 51,994,779 (GRCm39) D451G possibly damaging Het
Hmcn2 G A 2: 31,316,915 (GRCm39) W3831* probably null Het
Il3 A G 11: 54,156,375 (GRCm39) V119A probably benign Het
Jam3 T C 9: 27,010,156 (GRCm39) K276R probably benign Het
Kcnt1 G A 2: 25,784,326 (GRCm39) G277D possibly damaging Het
Kif28 T A 1: 179,527,919 (GRCm39) D744V probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Loxhd1 T C 18: 77,429,709 (GRCm39) I535T possibly damaging Het
Lzts1 A C 8: 69,588,474 (GRCm39) L494R probably benign Het
Mettl4 A G 17: 95,042,795 (GRCm39) V347A probably damaging Het
Mff A G 1: 82,729,370 (GRCm39) E270G probably damaging Het
Mroh2b A T 15: 4,929,985 (GRCm39) I24F possibly damaging Het
Muc16 A T 9: 18,430,596 (GRCm39) Y8102* probably null Het
Myh14 A T 7: 44,314,920 (GRCm39) M1K probably null Het
Myo18b T A 5: 113,027,376 (GRCm39) probably benign Het
Neurl1a C A 19: 47,245,873 (GRCm39) P502T probably damaging Het
Nrp1 G A 8: 129,194,997 (GRCm39) W484* probably null Het
Or2y3 T A 17: 38,393,452 (GRCm39) H139L possibly damaging Het
Or4f47 T A 2: 111,972,602 (GRCm39) I104N probably benign Het
Pcdhac1 T C 18: 37,224,807 (GRCm39) V540A possibly damaging Het
Pcdhga9 A G 18: 37,870,007 (GRCm39) probably benign Het
Pm20d1 A C 1: 131,729,501 (GRCm39) N176T probably benign Het
Pnldc1 T C 17: 13,116,189 (GRCm39) D271G probably damaging Het
Pold3 A G 7: 99,761,508 (GRCm39) V63A probably damaging Het
Rbm18 A C 2: 36,017,196 (GRCm39) S61A probably benign Het
Rdh14 T C 12: 10,444,551 (GRCm39) L134P probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rtel1 A G 2: 180,964,138 (GRCm39) T46A probably damaging Het
Rtn3 T C 19: 7,412,363 (GRCm39) I823V probably damaging Het
S1pr1 A G 3: 115,505,683 (GRCm39) S304P probably damaging Het
Scfd2 A G 5: 74,692,024 (GRCm39) V86A probably benign Het
Scgb1a1 C T 19: 9,062,599 (GRCm39) V66M probably damaging Het
Sec31a A T 5: 100,526,721 (GRCm39) M46K Het
Sgsm1 A G 5: 113,403,134 (GRCm39) M971T probably damaging Het
Slc5a11 T C 7: 122,864,951 (GRCm39) I419T probably benign Het
Slco6d1 A T 1: 98,394,431 (GRCm39) T372S possibly damaging Het
Slx9 T C 10: 77,350,229 (GRCm39) N53S probably benign Het
Spata31 T A 13: 65,068,679 (GRCm39) Y276N probably benign Het
Sprr2k C T 3: 92,340,796 (GRCm39) R49W unknown Het
Sspo G A 6: 48,434,547 (GRCm39) C1013Y probably damaging Het
Ssr2 A G 3: 88,487,190 (GRCm39) R2G possibly damaging Het
St18 C A 1: 6,898,229 (GRCm39) T677K probably benign Het
Thap11 A T 8: 106,582,527 (GRCm39) I179F probably damaging Het
Trf C A 9: 103,089,130 (GRCm39) G586C probably damaging Het
Umodl1 A G 17: 31,192,770 (GRCm39) N299S probably benign Het
Xrcc5 C A 1: 72,351,595 (GRCm39) A55E probably damaging Het
Other mutations in Atp2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Atp2c1 APN 9 105,295,778 (GRCm39) missense probably damaging 1.00
IGL01682:Atp2c1 APN 9 105,330,041 (GRCm39) missense probably damaging 1.00
IGL01874:Atp2c1 APN 9 105,326,024 (GRCm39) missense probably damaging 1.00
IGL02299:Atp2c1 APN 9 105,338,286 (GRCm39) unclassified probably benign
IGL03186:Atp2c1 APN 9 105,290,329 (GRCm39) missense probably benign 0.10
IGL03212:Atp2c1 APN 9 105,322,466 (GRCm39) missense probably damaging 1.00
BB002:Atp2c1 UTSW 9 105,319,969 (GRCm39) missense possibly damaging 0.92
BB012:Atp2c1 UTSW 9 105,319,969 (GRCm39) missense possibly damaging 0.92
IGL02799:Atp2c1 UTSW 9 105,290,242 (GRCm39) unclassified probably benign
IGL03047:Atp2c1 UTSW 9 105,398,206 (GRCm39) intron probably benign
R0885:Atp2c1 UTSW 9 105,298,772 (GRCm39) critical splice donor site probably null
R1072:Atp2c1 UTSW 9 105,336,943 (GRCm39) missense possibly damaging 0.92
R1469:Atp2c1 UTSW 9 105,312,351 (GRCm39) nonsense probably null
R1469:Atp2c1 UTSW 9 105,312,351 (GRCm39) nonsense probably null
R1611:Atp2c1 UTSW 9 105,320,051 (GRCm39) missense probably damaging 0.98
R1638:Atp2c1 UTSW 9 105,309,897 (GRCm39) missense probably damaging 0.96
R1667:Atp2c1 UTSW 9 105,309,996 (GRCm39) missense probably null 0.94
R1722:Atp2c1 UTSW 9 105,316,599 (GRCm39) missense probably benign 0.01
R1734:Atp2c1 UTSW 9 105,291,854 (GRCm39) missense probably damaging 1.00
R1782:Atp2c1 UTSW 9 105,308,786 (GRCm39) missense probably damaging 0.99
R1964:Atp2c1 UTSW 9 105,323,322 (GRCm39) missense probably damaging 1.00
R2008:Atp2c1 UTSW 9 105,309,925 (GRCm39) missense probably benign 0.00
R2093:Atp2c1 UTSW 9 105,295,320 (GRCm39) nonsense probably null
R3720:Atp2c1 UTSW 9 105,300,175 (GRCm39) missense probably damaging 1.00
R4118:Atp2c1 UTSW 9 105,343,858 (GRCm39) missense probably damaging 1.00
R4273:Atp2c1 UTSW 9 105,312,339 (GRCm39) missense probably benign 0.10
R4763:Atp2c1 UTSW 9 105,295,766 (GRCm39) missense probably damaging 1.00
R4962:Atp2c1 UTSW 9 105,320,149 (GRCm39) missense probably benign 0.03
R5121:Atp2c1 UTSW 9 105,326,024 (GRCm39) missense probably damaging 1.00
R5458:Atp2c1 UTSW 9 105,291,924 (GRCm39) nonsense probably null
R5551:Atp2c1 UTSW 9 105,336,936 (GRCm39) missense probably damaging 1.00
R6198:Atp2c1 UTSW 9 105,398,271 (GRCm39) missense probably benign 0.00
R6414:Atp2c1 UTSW 9 105,343,855 (GRCm39) missense probably damaging 1.00
R6432:Atp2c1 UTSW 9 105,322,512 (GRCm39) missense probably damaging 1.00
R6675:Atp2c1 UTSW 9 105,330,732 (GRCm39) critical splice donor site probably null
R6719:Atp2c1 UTSW 9 105,301,377 (GRCm39) missense probably damaging 1.00
R6777:Atp2c1 UTSW 9 105,295,799 (GRCm39) missense possibly damaging 0.64
R6847:Atp2c1 UTSW 9 105,295,778 (GRCm39) missense probably damaging 1.00
R6870:Atp2c1 UTSW 9 105,347,261 (GRCm39) missense probably benign 0.13
R7097:Atp2c1 UTSW 9 105,341,850 (GRCm39) missense probably damaging 1.00
R7120:Atp2c1 UTSW 9 105,297,385 (GRCm39) nonsense probably null
R7216:Atp2c1 UTSW 9 105,344,930 (GRCm39) missense probably benign 0.00
R7284:Atp2c1 UTSW 9 105,398,008 (GRCm39) splice site probably null
R7365:Atp2c1 UTSW 9 105,300,198 (GRCm39) missense probably damaging 1.00
R7448:Atp2c1 UTSW 9 105,329,982 (GRCm39) missense probably damaging 0.98
R7818:Atp2c1 UTSW 9 105,291,956 (GRCm39) missense probably benign 0.06
R7921:Atp2c1 UTSW 9 105,291,886 (GRCm39) missense probably damaging 1.00
R7925:Atp2c1 UTSW 9 105,319,969 (GRCm39) missense possibly damaging 0.92
R8257:Atp2c1 UTSW 9 105,308,756 (GRCm39) missense probably benign 0.40
R8260:Atp2c1 UTSW 9 105,295,778 (GRCm39) missense probably damaging 1.00
R8265:Atp2c1 UTSW 9 105,347,315 (GRCm39) missense probably benign 0.01
R8307:Atp2c1 UTSW 9 105,320,030 (GRCm39) missense probably benign
R9052:Atp2c1 UTSW 9 105,330,032 (GRCm39) missense probably damaging 0.99
R9066:Atp2c1 UTSW 9 105,330,845 (GRCm39) missense probably damaging 1.00
R9177:Atp2c1 UTSW 9 105,336,858 (GRCm39) critical splice donor site probably null
R9257:Atp2c1 UTSW 9 105,291,851 (GRCm39) nonsense probably null
R9566:Atp2c1 UTSW 9 105,343,828 (GRCm39) missense probably damaging 0.97
R9779:Atp2c1 UTSW 9 105,291,919 (GRCm39) missense probably damaging 0.98
X0053:Atp2c1 UTSW 9 105,295,883 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAACAACAATCCTAGTTGTGC -3'
(R):5'- TCTTTAAGATGATGCAGGCAGAAG -3'

Sequencing Primer
(F):5'- AACAATCCTAGTTGTGCGCACTG -3'
(R):5'- TGCAGGCAGAAGAAGTGAGTATTTAC -3'
Posted On 2020-09-18