Incidental Mutation 'IGL02799:Atp2c1'
ID 392281
Institutional Source Beutler Lab
Gene Symbol Atp2c1
Ensembl Gene ENSMUSG00000032570
Gene Name ATPase, Ca++-sequestering
Synonyms ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # IGL02799 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 105288561-105398456 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 105290242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038118] [ENSMUST00000085133] [ENSMUST00000112558] [ENSMUST00000176770] [ENSMUST00000177074] [ENSMUST00000177293] [ENSMUST00000189758]
AlphaFold Q80XR2
Predicted Effect probably benign
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 benign
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 noncoding transcript
Transcript: ENSMUST00000112557
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000175697
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000190934
Predicted Effect probably benign
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
Predicted Effect probably benign
Transcript: ENSMUST00000189758
SMART Domains Protein: ENSMUSP00000139854
Gene: ENSMUSG00000032567

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign 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
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
R8088:Atp2c1 UTSW 9 105,329,768 (GRCm39) splice site probably null
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'- AGTTCACTCAATTGCAAAAGCC -3'
(R):5'- TCTAAGGTGTAAGATGTTGCTCTAC -3'

Sequencing Primer
(F):5'- GCCAATTCAAATCAAGGAATGTG -3'
(R):5'- AGGTGTAAGATGTTGCTCTACATTTC -3'
Posted On 2016-06-09