Incidental Mutation 'R5646:Atp2a1'
ID 441157
Institutional Source Beutler Lab
Gene Symbol Atp2a1
Ensembl Gene ENSMUSG00000030730
Gene Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms SERCA1
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5646 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126045032-126062245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126052277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 402 (V402A)
Ref Sequence ENSEMBL: ENSMUSP00000032974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032974]
AlphaFold Q8R429
Predicted Effect probably benign
Transcript: ENSMUST00000032974
AA Change: V402A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: V402A

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 noncoding transcript
Transcript: ENSMUST00000133300
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Ttc6 A T 12: 57,622,805 (GRCm39) K68M probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null 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
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
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'- ATTGCCCAGGAAGGAAGCAC -3'
(R):5'- GAATCTCCTTAGTGCTGTGTGC -3'

Sequencing Primer
(F):5'- GCACGGACTCAGAACTGCAG -3'
(R):5'- GGGACGATCTCCTGTTCGTTC -3'
Posted On 2016-11-08