Incidental Mutation 'R1700:Atp2a1'
ID 189658
Institutional Source Beutler Lab
Gene Symbol Atp2a1
Ensembl Gene ENSMUSG00000030730
Gene Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms SERCA1
MMRRC Submission 039733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1700 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126045032-126062245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126062081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 5 (H5L)
Ref Sequence ENSEMBL: ENSMUSP00000032974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000206664] [ENSMUST00000205889]
AlphaFold Q8R429
Predicted Effect probably damaging
Transcript: ENSMUST00000032974
AA Change: H5L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: H5L

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 4.39e-16 SMART
Pfam:E1-E2_ATPase 92 340 1.5e-66 PFAM
Pfam:Hydrolase 345 715 7.5e-20 PFAM
Pfam:HAD 348 712 1.2e-18 PFAM
Pfam:Cation_ATPase 418 528 3.2e-23 PFAM
Pfam:Hydrolase_3 683 747 2.3e-7 PFAM
Pfam:Cation_ATPase_C 784 987 4.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032978
SMART Domains Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733

DomainStartEndE-ValueType
Pfam:Phe_ZIP 25 81 4.6e-25 PFAM
low complexity region 83 99 N/A INTRINSIC
low complexity region 133 151 N/A INTRINSIC
low complexity region 156 168 N/A INTRINSIC
low complexity region 195 205 N/A INTRINSIC
PH 247 378 4.82e-7 SMART
low complexity region 447 460 N/A INTRINSIC
low complexity region 466 483 N/A INTRINSIC
SH2 525 610 2.84e-23 SMART
low complexity region 668 677 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205340
Predicted Effect probably benign
Transcript: ENSMUST00000205440
Predicted Effect probably benign
Transcript: ENSMUST00000205497
Predicted Effect probably benign
Transcript: ENSMUST00000205733
Predicted Effect probably benign
Transcript: ENSMUST00000206664
Predicted Effect probably benign
Transcript: ENSMUST00000205889
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,899,537 (GRCm39) F936L probably benign Het
Adamts12 T A 15: 11,152,143 (GRCm39) I211N probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alas1 C T 9: 106,116,845 (GRCm39) V293I possibly damaging Het
Ap1g1 T C 8: 110,580,244 (GRCm39) Y569H probably damaging Het
Apc2 A G 10: 80,148,603 (GRCm39) D1190G probably damaging Het
Astn2 G A 4: 65,664,591 (GRCm39) Q679* probably null Het
Baiap3 T C 17: 25,468,302 (GRCm39) K279E probably damaging Het
C2cd2l G A 9: 44,227,909 (GRCm39) P111S probably benign Het
C7 T A 15: 5,032,274 (GRCm39) K646* probably null Het
Ccp110 C T 7: 118,334,536 (GRCm39) T1003I probably damaging Het
Cdh22 T C 2: 165,012,716 (GRCm39) D123G probably damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Clip1 A G 5: 123,768,433 (GRCm39) V722A probably benign Het
Cpsf4l A G 11: 113,592,901 (GRCm39) F174S probably benign Het
Ctnna3 T C 10: 63,688,551 (GRCm39) C332R probably damaging Het
Cxcl10 A T 5: 92,495,714 (GRCm39) N76K probably damaging Het
Dnaaf9 G A 2: 130,551,858 (GRCm39) L1010F probably damaging Het
Dnaja3 G A 16: 4,502,029 (GRCm39) R11K probably null Het
Efcab10 A G 12: 33,445,170 (GRCm39) T28A possibly damaging Het
Esrrg A G 1: 187,775,850 (GRCm39) R103G probably damaging Het
Exosc2 A G 2: 31,560,818 (GRCm39) K23E probably benign Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fsip2 T C 2: 82,822,081 (GRCm39) V5938A probably benign Het
Gclc A G 9: 77,683,571 (GRCm39) T143A probably benign Het
Gpr37 A G 6: 25,669,623 (GRCm39) V407A probably benign Het
Gucy2e A T 11: 69,122,884 (GRCm39) M497K probably benign Het
Herc1 T A 9: 66,357,960 (GRCm39) probably null Het
Hnrnpll A C 17: 80,341,534 (GRCm39) S502A probably benign Het
Ipo11 G T 13: 106,932,170 (GRCm39) T975N probably benign Het
Kif17 C T 4: 137,990,009 (GRCm39) Q66* probably null Het
Lrp10 T C 14: 54,707,209 (GRCm39) V682A possibly damaging Het
Lsmem1 A T 12: 40,230,677 (GRCm39) L75Q probably damaging Het
Med16 A T 10: 79,735,169 (GRCm39) Y430N probably benign Het
Med8 C T 4: 118,269,931 (GRCm39) S72L possibly damaging Het
Mex3a A G 3: 88,443,682 (GRCm39) T253A probably damaging Het
Myf6 T C 10: 107,329,220 (GRCm39) K242E probably damaging Het
Ncald T A 15: 37,397,587 (GRCm39) Y31F probably benign Het
Ndufa12 T A 10: 94,035,855 (GRCm39) Y48N probably damaging Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or51q1c T A 7: 103,653,329 (GRCm39) Y282* probably null Het
Or5as1 T G 2: 86,980,123 (GRCm39) N294T probably damaging Het
Pde4dip T C 3: 97,610,639 (GRCm39) T1858A probably benign Het
Pgbd1 A G 13: 21,618,651 (GRCm39) L2P probably damaging Het
Piezo1 C T 8: 123,214,241 (GRCm39) R1642H probably damaging Het
Plxna1 A T 6: 89,333,990 (GRCm39) M213K probably damaging Het
Polr1b A G 2: 128,965,041 (GRCm39) N709S probably damaging Het
Pramel1 T A 4: 143,124,999 (GRCm39) W308R probably damaging Het
Prkag2 A T 5: 25,076,539 (GRCm39) I208N probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rngtt T A 4: 33,330,864 (GRCm39) F156I probably damaging Het
Rpusd3 A G 6: 113,392,494 (GRCm39) *345Q probably null Het
Rrp1b A G 17: 32,276,178 (GRCm39) K575R probably benign Het
Shd G A 17: 56,281,307 (GRCm39) V250I probably damaging Het
Slc12a5 C A 2: 164,834,296 (GRCm39) N749K possibly damaging Het
Sorbs2 T A 8: 46,254,021 (GRCm39) V488D probably damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Srsf4 C A 4: 131,627,871 (GRCm39) probably benign Het
Strn T C 17: 78,999,831 (GRCm39) Y135C probably damaging Het
Synm T C 7: 67,409,376 (GRCm39) M1V probably null Het
Tas1r3 T G 4: 155,946,027 (GRCm39) Q489P probably benign Het
Tas2r103 A T 6: 133,013,774 (GRCm39) N97K probably damaging Het
Tas2r113 A G 6: 132,870,755 (GRCm39) Y261C possibly damaging Het
Tex21 T C 12: 76,268,446 (GRCm39) E112G probably damaging Het
Trappc8 T C 18: 20,966,055 (GRCm39) S1128G probably damaging Het
Ubap1l A G 9: 65,279,025 (GRCm39) probably benign Het
Ubash3a A G 17: 31,434,018 (GRCm39) D121G probably damaging Het
Ubxn4 A G 1: 128,180,023 (GRCm39) I56V possibly damaging Het
Uri1 T C 7: 37,662,949 (GRCm39) I348M probably damaging Het
Usp21 C A 1: 171,111,295 (GRCm39) L379F probably damaging Het
Vmn1r159 T A 7: 22,542,390 (GRCm39) H214L probably damaging Het
Zdbf2 A G 1: 63,341,900 (GRCm39) E93G unknown Het
Other mutations in Atp2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Atp2a1 APN 7 126,046,388 (GRCm39) nonsense probably null
IGL00474:Atp2a1 APN 7 126,049,466 (GRCm39) nonsense probably null
IGL00500:Atp2a1 APN 7 126,046,388 (GRCm39) nonsense probably null
IGL01112:Atp2a1 APN 7 126,049,479 (GRCm39) missense probably benign 0.13
IGL01380:Atp2a1 APN 7 126,047,942 (GRCm39) missense possibly damaging 0.84
IGL01503:Atp2a1 APN 7 126,047,750 (GRCm39) missense probably damaging 1.00
IGL01630:Atp2a1 APN 7 126,049,437 (GRCm39) missense probably benign 0.00
IGL01679:Atp2a1 APN 7 126,055,981 (GRCm39) missense probably benign 0.00
IGL01729:Atp2a1 APN 7 126,057,106 (GRCm39) missense probably damaging 0.99
IGL02290:Atp2a1 APN 7 126,051,821 (GRCm39) splice site probably benign
IGL02929:Atp2a1 APN 7 126,056,116 (GRCm39) missense probably damaging 1.00
IGL02951:Atp2a1 APN 7 126,049,399 (GRCm39) missense possibly damaging 0.58
IGL03249:Atp2a1 APN 7 126,061,977 (GRCm39) missense probably benign 0.12
1mM(1):Atp2a1 UTSW 7 126,046,081 (GRCm39) missense probably damaging 1.00
R0052:Atp2a1 UTSW 7 126,057,069 (GRCm39) splice site probably benign
R0052:Atp2a1 UTSW 7 126,057,069 (GRCm39) splice site probably benign
R0070:Atp2a1 UTSW 7 126,046,624 (GRCm39) missense probably benign 0.03
R0070:Atp2a1 UTSW 7 126,046,624 (GRCm39) missense probably benign 0.03
R0121:Atp2a1 UTSW 7 126,057,116 (GRCm39) missense probably damaging 1.00
R0398:Atp2a1 UTSW 7 126,049,590 (GRCm39) unclassified probably benign
R0578:Atp2a1 UTSW 7 126,049,315 (GRCm39) missense probably benign
R0626:Atp2a1 UTSW 7 126,046,162 (GRCm39) critical splice acceptor site probably null
R0739:Atp2a1 UTSW 7 126,047,428 (GRCm39) missense possibly damaging 0.87
R1558:Atp2a1 UTSW 7 126,051,844 (GRCm39) missense possibly damaging 0.88
R1748:Atp2a1 UTSW 7 126,058,780 (GRCm39) missense possibly damaging 0.67
R1799:Atp2a1 UTSW 7 126,049,314 (GRCm39) missense probably benign 0.27
R1808:Atp2a1 UTSW 7 126,052,573 (GRCm39) missense probably damaging 0.97
R2058:Atp2a1 UTSW 7 126,046,844 (GRCm39) missense possibly damaging 0.60
R2143:Atp2a1 UTSW 7 126,047,897 (GRCm39) nonsense probably null
R2427:Atp2a1 UTSW 7 126,045,755 (GRCm39) makesense probably null
R3113:Atp2a1 UTSW 7 126,047,541 (GRCm39) missense probably damaging 1.00
R4501:Atp2a1 UTSW 7 126,052,555 (GRCm39) missense probably benign 0.00
R4604:Atp2a1 UTSW 7 126,047,795 (GRCm39) missense probably damaging 0.96
R4934:Atp2a1 UTSW 7 126,052,600 (GRCm39) missense probably benign
R4939:Atp2a1 UTSW 7 126,049,288 (GRCm39) missense probably benign
R5646:Atp2a1 UTSW 7 126,052,277 (GRCm39) missense probably benign
R6093:Atp2a1 UTSW 7 126,046,093 (GRCm39) missense probably damaging 1.00
R6556:Atp2a1 UTSW 7 126,049,434 (GRCm39) missense probably benign 0.37
R6908:Atp2a1 UTSW 7 126,047,707 (GRCm39) critical splice donor site probably null
R6911:Atp2a1 UTSW 7 126,056,008 (GRCm39) missense probably damaging 1.00
R7206:Atp2a1 UTSW 7 126,047,144 (GRCm39) missense probably benign 0.01
R7354:Atp2a1 UTSW 7 126,048,028 (GRCm39) missense probably damaging 1.00
R7363:Atp2a1 UTSW 7 126,062,061 (GRCm39) missense possibly damaging 0.88
R7501:Atp2a1 UTSW 7 126,049,344 (GRCm39) missense probably benign 0.29
R7560:Atp2a1 UTSW 7 126,058,828 (GRCm39) missense possibly damaging 0.95
R7716:Atp2a1 UTSW 7 126,061,359 (GRCm39) missense possibly damaging 0.86
R7772:Atp2a1 UTSW 7 126,047,707 (GRCm39) critical splice donor site probably null
R8039:Atp2a1 UTSW 7 126,047,977 (GRCm39) missense probably damaging 0.99
R8391:Atp2a1 UTSW 7 126,047,888 (GRCm39) missense possibly damaging 0.94
R8478:Atp2a1 UTSW 7 126,047,502 (GRCm39) missense probably damaging 1.00
R9020:Atp2a1 UTSW 7 126,046,135 (GRCm39) missense probably benign
X0022:Atp2a1 UTSW 7 126,047,422 (GRCm39) missense possibly damaging 0.49
X0060:Atp2a1 UTSW 7 126,062,054 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ACACTTTGGAAGAAGCAGCTCCCC -3'
(R):5'- CTGTTCCTCTCTGTCAGCAGAAACC -3'

Sequencing Primer
(F):5'- GAAGCAGCTCCCCTGACAG -3'
(R):5'- CAATCCCTGACCTGGAGGAAG -3'
Posted On 2014-05-14