Incidental Mutation 'R2427:Atp2a1'
ID 250277
Institutional Source Beutler Lab
Gene Symbol Atp2a1
Ensembl Gene ENSMUSG00000030730
Gene Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms SERCA1
MMRRC Submission 040389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2427 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126045032-126062245 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 126045755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Leucine at position 995 (*995L)
Ref Sequence ENSEMBL: ENSMUSP00000032974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000106405] [ENSMUST00000106407]
AlphaFold Q8R429
Predicted Effect probably null
Transcript: ENSMUST00000032974
AA Change: *995L
SMART Domains Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: *995L

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: ENSMUST00000106405
SMART Domains Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727

DomainStartEndE-ValueType
Pfam:Rabaptin 2 107 1.4e-41 PFAM
low complexity region 139 158 N/A INTRINSIC
low complexity region 175 194 N/A INTRINSIC
Pfam:Rabaptin 196 311 5.9e-10 PFAM
Pfam:Rab5-bind 289 456 4.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106407
SMART Domains Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727

DomainStartEndE-ValueType
Pfam:Rabaptin 13 171 1.4e-39 PFAM
low complexity region 182 201 N/A INTRINSIC
low complexity region 218 237 N/A INTRINSIC
Pfam:Rab5-bind 274 487 4.1e-21 PFAM
Pfam:Rab5-bind 469 531 1.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133300
Predicted Effect probably benign
Transcript: ENSMUST00000146973
SMART Domains Protein: ENSMUSP00000119018
Gene: ENSMUSG00000030730

DomainStartEndE-ValueType
Pfam:Cation_ATPase_C 6 132 6.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151304
Meta Mutation Damage Score 0.9233 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy1 A G 1: 92,798,529 (GRCm39) probably null Het
Axin2 T A 11: 108,814,800 (GRCm39) N229K possibly damaging Het
Capn13 A T 17: 73,633,312 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,929,545 (GRCm39) I1202V probably benign Het
Cep295 A G 9: 15,245,534 (GRCm39) L974P probably damaging Het
Cers3 T C 7: 66,445,541 (GRCm39) Y321H probably benign Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Ciao1 T C 2: 127,088,611 (GRCm39) H104R probably damaging Het
Cldn4 A T 5: 134,975,331 (GRCm39) V90E probably damaging Het
Crbn T C 6: 106,760,433 (GRCm39) E253G probably damaging Het
Ctns A G 11: 73,087,512 (GRCm39) W5R probably damaging Het
Eme1 G A 11: 94,541,801 (GRCm39) probably benign Het
Fat2 T A 11: 55,201,638 (GRCm39) T479S probably benign Het
Fbxw25 T C 9: 109,481,928 (GRCm39) N253D probably benign Het
Fer A G 17: 64,264,298 (GRCm39) I39V probably benign Het
Fmnl2 A G 2: 53,006,991 (GRCm39) M768V probably damaging Het
Frg1 T C 8: 41,867,903 (GRCm39) K24E probably damaging Het
I830077J02Rik G T 3: 105,835,320 (GRCm39) A19D probably damaging Het
Ighv1-20 C T 12: 114,687,692 (GRCm39) silent Het
Igsf9 A G 1: 172,318,306 (GRCm39) S149G probably damaging Het
Klra10 T A 6: 130,256,298 (GRCm39) I119F probably benign Het
Lrrc4b T A 7: 44,111,976 (GRCm39) I616N probably damaging Het
Lrrc71 T C 3: 87,653,309 (GRCm39) T64A probably benign Het
Ly9 A T 1: 171,434,800 (GRCm39) I31N probably damaging Het
Mef2a A G 7: 66,915,808 (GRCm39) S165P probably damaging Het
Nol4 T G 18: 22,983,755 (GRCm39) probably benign Het
Nt5el T C 13: 105,246,269 (GRCm39) F277L probably benign Het
Plxnd1 C T 6: 115,944,709 (GRCm39) probably null Het
Rab27b T C 18: 70,129,205 (GRCm39) T30A probably damaging Het
Rasa4 A G 5: 136,130,881 (GRCm39) D384G probably benign Het
Slx4 G A 16: 3,806,851 (GRCm39) L531F probably damaging Het
Tafa4 C T 6: 96,991,328 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,557 (GRCm39) probably null Het
Tpm2 T C 4: 43,523,306 (GRCm39) N17D probably damaging Het
Tyrp1 A G 4: 80,769,108 (GRCm39) T134A probably benign Het
Zfand6 T A 7: 84,283,498 (GRCm39) K35* probably null Het
Zfp648 G A 1: 154,080,819 (GRCm39) C326Y probably damaging 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
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'- TCACCTGTGATGTGCCAGAC -3'
(R):5'- CCCTCTTCCTTTGTAGGTAGGTAGG -3'

Sequencing Primer
(F):5'- TGTGATGTGCCAGACCCCAAC -3'
(R):5'- AGGTAGGTAAGTTCTTTTTAGCCC -3'
Posted On 2014-11-12