Incidental Mutation 'IGL00474:Atp2a1'
ID 12485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp2a1
Ensembl Gene ENSMUSG00000030730
Gene Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms SERCA1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00474
Quality Score
Status
Chromosome 7
Chromosomal Location 126045032-126062245 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 126049466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 525 (C525*)
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: C525*
SMART Domains Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: C525*

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: ENSMUST00000151304
Coding Region Coverage
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T C 7: 133,511,610 (GRCm39) K730R possibly damaging Het
Adgrf4 T C 17: 42,986,650 (GRCm39) I36M probably damaging Het
Col11a1 A C 3: 113,860,182 (GRCm39) M203L unknown Het
Duox2 T A 2: 122,114,056 (GRCm39) M1159L probably benign Het
Harbi1 T G 2: 91,542,971 (GRCm39) V144G probably damaging Het
Kcp A G 6: 29,482,656 (GRCm39) V1471A probably benign Het
Lrig1 G T 6: 94,588,385 (GRCm39) T588K probably damaging Het
Lyst A G 13: 13,818,121 (GRCm39) I1264V possibly damaging Het
Slc4a11 A T 2: 130,530,058 (GRCm39) M240K probably benign Het
Vmn1r120 T A 7: 20,786,935 (GRCm39) I259F probably benign Het
Other mutations in Atp2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Atp2a1 APN 7 126,046,388 (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
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
Posted On 2012-12-06