Incidental Mutation 'R0052:Atp2a1'
ID 33047
Institutional Source Beutler Lab
Gene Symbol Atp2a1
Ensembl Gene ENSMUSG00000030730
Gene Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms SERCA1
MMRRC Submission 038346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0052 (G1)
Quality Score 219
Status Validated
Chromosome 7
Chromosomal Location 126045032-126062245 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 126057069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032974]
AlphaFold Q8R429
Predicted Effect probably benign
Transcript: ENSMUST00000032974
SMART Domains Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,893,315 (GRCm39) S438P possibly damaging Het
Atosa A G 9: 74,926,265 (GRCm39) probably benign Het
Axin2 T C 11: 108,840,096 (GRCm39) Y735H probably damaging Het
Bicd2 T A 13: 49,528,790 (GRCm39) L184Q probably damaging Het
Bub1 G A 2: 127,650,959 (GRCm39) T618I probably benign Het
Catsperg2 A G 7: 29,424,445 (GRCm39) probably benign Het
Ccdc73 T A 2: 104,759,915 (GRCm39) probably benign Het
Crybg3 A T 16: 59,386,019 (GRCm39) probably benign Het
Dsp A G 13: 38,381,340 (GRCm39) D2096G possibly damaging Het
Eef2 C CN 10: 81,014,602 (GRCm39) probably null Het
Elp3 A G 14: 65,768,975 (GRCm39) *548Q probably null Het
Eno4 A G 19: 58,956,985 (GRCm39) D357G probably damaging Het
Fcrl2 A T 3: 87,164,085 (GRCm39) I348N possibly damaging Het
Fgl2 A T 5: 21,580,347 (GRCm39) S230C probably damaging Het
Ginm1 T A 10: 7,655,070 (GRCm39) E57D possibly damaging Het
Gtf3c1 A T 7: 125,267,143 (GRCm39) probably null Het
Herc1 G T 9: 66,307,438 (GRCm39) G1044V probably damaging Het
Hmcn1 G A 1: 150,553,157 (GRCm39) T2511M probably damaging Het
Iba57 C T 11: 59,049,727 (GRCm39) A207T probably benign Het
Itga9 T A 9: 118,465,617 (GRCm39) I157N probably damaging Het
Kalrn A G 16: 34,177,541 (GRCm39) L208P probably damaging Het
Kcnj10 A G 1: 172,196,491 (GRCm39) T2A probably benign Het
Kdm1b T A 13: 47,217,593 (GRCm39) C351S probably damaging Het
Kif21a T C 15: 90,855,060 (GRCm39) E700G probably damaging Het
Mmd C T 11: 90,150,824 (GRCm39) probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Morn3 T C 5: 123,184,726 (GRCm39) Y38C probably damaging Het
Nacc1 A T 8: 85,402,854 (GRCm39) V313D probably benign Het
Nbeal1 T A 1: 60,267,771 (GRCm39) probably benign Het
Neb T C 2: 52,163,992 (GRCm39) K1989E possibly damaging Het
Nlrp3 C T 11: 59,455,954 (GRCm39) R917* probably null Het
Nlrp4b T A 7: 10,459,889 (GRCm39) Y463* probably null Het
Perm1 A T 4: 156,302,572 (GRCm39) D372V probably damaging Het
Phf3 T C 1: 30,847,848 (GRCm39) T1232A probably damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Pld4 T A 12: 112,734,291 (GRCm39) F386I probably benign Het
Prex2 T A 1: 11,230,380 (GRCm39) L802Q probably damaging Het
Psd3 A G 8: 68,335,631 (GRCm39) probably null Het
Ralgds T A 2: 28,434,400 (GRCm39) probably null Het
Rmdn2 A G 17: 79,957,760 (GRCm39) E16G probably damaging Het
Rnf111 A T 9: 70,383,671 (GRCm39) S87R probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc9c1 A G 16: 45,427,219 (GRCm39) probably benign Het
Slco3a1 A T 7: 74,154,074 (GRCm39) I166N probably benign Het
Snx5 A T 2: 144,101,112 (GRCm39) probably null Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
St8sia2 G T 7: 73,593,038 (GRCm39) Y339* probably null Het
St8sia2 A T 7: 73,621,700 (GRCm39) W86R probably damaging Het
Stk33 A G 7: 108,878,876 (GRCm39) L491P possibly damaging Het
Sult2a7 T C 7: 14,199,133 (GRCm39) Y298C probably damaging Het
Tdo2 T A 3: 81,874,332 (GRCm39) N210I probably benign Het
Thada A T 17: 84,762,586 (GRCm39) N104K probably damaging Het
Timm8b A T 9: 50,516,330 (GRCm39) D61V possibly damaging Het
Tshz1 G A 18: 84,033,070 (GRCm39) T446I possibly damaging Het
Ubap2l T C 3: 89,946,235 (GRCm39) N123S possibly damaging Het
Vmn1r48 T C 6: 90,013,246 (GRCm39) E193G possibly damaging Het
Vmn1r69 C T 7: 10,314,327 (GRCm39) V135I probably benign Het
Vmn2r103 G T 17: 20,031,903 (GRCm39) G559V probably benign Het
Vmn2r26 T A 6: 124,038,992 (GRCm39) *856R probably null Het
Vmn2r88 A G 14: 51,656,157 (GRCm39) I798V possibly damaging Het
Vsir C T 10: 60,193,861 (GRCm39) A108V probably benign Het
Zfp14 G T 7: 29,737,753 (GRCm39) Q411K probably damaging Het
Zfp236 A T 18: 82,657,457 (GRCm39) M762K probably damaging Het
Zfp462 G A 4: 55,011,762 (GRCm39) G1243S probably benign 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
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
R1700:Atp2a1 UTSW 7 126,062,081 (GRCm39) missense probably damaging 1.00
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'- TGGAAGACAGAAGTCCTCACTACCG -3'
(R):5'- AGATGGGAAATCTTGTGCTGAAGGC -3'

Sequencing Primer
(F):5'- CAGAATCTCTCATCTGAGGGC -3'
(R):5'- CTGGGTACTGTAGGACCTGAAG -3'
Posted On 2013-05-09