Incidental Mutation 'R5641:Atp2a2'
ID 440666
Institutional Source Beutler Lab
Gene Symbol Atp2a2
Ensembl Gene ENSMUSG00000029467
Gene Name ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Synonyms SERCA2, Serca2a, D5Wsu150e, SERCA2B, sarco/endoplasmic reticulum Ca2+-ATPase 2, 9530097L16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5641 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 122591576-122640288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122595639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 932 (L932P)
Ref Sequence ENSEMBL: ENSMUSP00000135935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031423] [ENSMUST00000177974] [ENSMUST00000179939]
AlphaFold O55143
Predicted Effect probably damaging
Transcript: ENSMUST00000031423
AA Change: L932P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: L932P

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 9e-13 SMART
Pfam:E1-E2_ATPase 92 340 2.1e-66 PFAM
Pfam:Hydrolase 345 714 1.2e-18 PFAM
Pfam:HAD 348 711 1e-18 PFAM
Pfam:Cation_ATPase 418 527 2.5e-24 PFAM
Pfam:Hydrolase_3 682 746 1.9e-7 PFAM
Pfam:Cation_ATPase_C 783 986 2.4e-48 PFAM
transmembrane domain 1015 1032 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177974
AA Change: L932P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: L932P

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 9e-13 SMART
Pfam:E1-E2_ATPase 92 340 5.1e-66 PFAM
Pfam:Hydrolase 345 714 2.7e-18 PFAM
Pfam:HAD 348 711 2.6e-18 PFAM
Pfam:Cation_ATPase 418 527 4.7e-24 PFAM
Pfam:Hydrolase_3 682 746 7.2e-7 PFAM
Pfam:Cation_ATPase_C 783 986 5.9e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179939
AA Change: L932P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: L932P

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 9e-13 SMART
Pfam:E1-E2_ATPase 93 341 9e-69 PFAM
Pfam:HAD 348 711 1.2e-16 PFAM
Pfam:Hydrolase_like2 418 527 3.1e-24 PFAM
Pfam:Hydrolase 496 714 8.7e-24 PFAM
Pfam:Hydrolase_3 682 746 3.4e-7 PFAM
Pfam:Cation_ATPase_C 783 986 1.6e-47 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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 into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Targeted homozygous mutants are embryonic lethal while heterozygotes show reduced blood pressure and mildly impaired cardiac contractility and relaxation. Aged heterozygotes for one targeted mutation develop squamous cell tumors of the forestomach, esophagus, oral mucosa, tongue, and skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,289,877 (GRCm39) M1398L probably benign Het
Acad12 A G 5: 121,742,084 (GRCm39) probably benign Het
Aldh1a7 T C 19: 20,693,293 (GRCm39) I209V probably benign Het
Alkal2 G A 12: 30,937,264 (GRCm39) probably null Het
Aqr A G 2: 113,979,515 (GRCm39) F307L probably damaging Het
Atxn7 T C 14: 14,013,638 (GRCm38) M113T probably damaging Het
Blzf1 T A 1: 164,134,038 (GRCm39) M4L probably benign Het
Brca2 C A 5: 150,480,364 (GRCm39) S2711R probably damaging Het
Bzw1 A T 1: 58,436,883 (GRCm39) Q70L probably damaging Het
Cd34 T A 1: 194,630,276 (GRCm39) I70N probably benign Het
Chac1 A G 2: 119,181,999 (GRCm39) Y39C probably damaging Het
Col6a2 G C 10: 76,449,112 (GRCm39) P275A probably damaging Het
Crb1 T A 1: 139,176,627 (GRCm39) N452I probably damaging Het
Ctrc T C 4: 141,566,094 (GRCm39) N188S probably damaging Het
Dnah7b G A 1: 46,307,924 (GRCm39) probably null Het
Etl4 GGGGAAGAACCGG GGG 2: 20,811,273 (GRCm39) probably null Het
Exoc6 T A 19: 37,576,081 (GRCm39) probably null Het
Gm5616 T A 9: 48,361,716 (GRCm39) noncoding transcript Het
Gm7535 T C 17: 18,131,788 (GRCm39) probably benign Het
Hnrnpr T C 4: 136,059,798 (GRCm39) S200P probably damaging Het
Ighg2b T C 12: 113,270,767 (GRCm39) N121S unknown Het
Il21 T A 3: 37,281,917 (GRCm39) K76* probably null Het
Jup T A 11: 100,267,632 (GRCm39) T564S possibly damaging Het
Kcns2 G C 15: 34,839,199 (GRCm39) R187S possibly damaging Het
Klhl18 G A 9: 110,275,896 (GRCm39) T84M probably damaging Het
Mtor T A 4: 148,630,882 (GRCm39) L2280M probably damaging Het
Ncoa6 A G 2: 155,263,756 (GRCm39) I226T probably benign Het
Nipbl A T 15: 8,396,196 (GRCm39) Y126N possibly damaging Het
Nlrp4a T A 7: 26,149,589 (GRCm39) C399S probably damaging Het
Nphp3 A G 9: 103,913,352 (GRCm39) K54E probably damaging Het
Nsun2 T A 13: 69,771,368 (GRCm39) V326E probably benign Het
Oosp3 T C 19: 11,674,537 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,746 (GRCm39) I38T probably benign Het
Pcdhga9 T C 18: 37,871,301 (GRCm39) S377P probably damaging Het
Pdlim3 A G 8: 46,368,300 (GRCm39) probably null Het
Pla2r1 A T 2: 60,345,328 (GRCm39) W343R probably damaging Het
Prox2 A G 12: 85,134,721 (GRCm39) V520A probably benign Het
Rfx3 T C 19: 27,771,008 (GRCm39) probably null Het
Rif1 A C 2: 52,011,170 (GRCm39) R2412S possibly damaging Het
Rreb1 T C 13: 38,131,397 (GRCm39) L1517P probably benign Het
Rxfp1 T C 3: 79,594,199 (GRCm39) N65S probably damaging Het
Sbf2 T C 7: 110,038,108 (GRCm39) E399G probably damaging Het
Slc36a4 A C 9: 15,640,098 (GRCm39) probably null Het
Slco1a1 A T 6: 141,885,695 (GRCm39) M110K probably damaging Het
Stat5a T A 11: 100,767,634 (GRCm39) C401S probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tmem150c T C 5: 100,231,523 (GRCm39) T151A probably damaging Het
Ube4a A T 9: 44,862,179 (GRCm39) M173K probably damaging Het
Vmn1r188 A T 13: 22,272,342 (GRCm39) S99C probably damaging Het
Vmn2r70 C T 7: 85,208,572 (GRCm39) C635Y probably damaging Het
Zfp644 T C 5: 106,767,461 (GRCm39) K24E probably damaging Het
Other mutations in Atp2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Atp2a2 APN 5 122,596,146 (GRCm39) splice site probably null
IGL01459:Atp2a2 APN 5 122,607,715 (GRCm39) missense probably benign 0.03
IGL01721:Atp2a2 APN 5 122,638,855 (GRCm39) missense possibly damaging 0.89
IGL02614:Atp2a2 APN 5 122,627,366 (GRCm39) missense probably benign 0.00
IGL02616:Atp2a2 APN 5 122,599,747 (GRCm39) missense probably benign 0.07
IGL02826:Atp2a2 APN 5 122,627,354 (GRCm39) missense probably benign 0.03
IGL02876:Atp2a2 APN 5 122,604,071 (GRCm39) missense probably benign 0.18
PIT4458001:Atp2a2 UTSW 5 122,595,372 (GRCm39) nonsense probably null
R0087:Atp2a2 UTSW 5 122,599,024 (GRCm39) missense probably benign 0.02
R0139:Atp2a2 UTSW 5 122,629,778 (GRCm39) missense probably damaging 1.00
R0166:Atp2a2 UTSW 5 122,604,901 (GRCm39) missense possibly damaging 0.69
R0457:Atp2a2 UTSW 5 122,607,777 (GRCm39) missense probably benign
R0658:Atp2a2 UTSW 5 122,595,696 (GRCm39) splice site probably benign
R0815:Atp2a2 UTSW 5 122,609,299 (GRCm39) missense probably benign 0.02
R1282:Atp2a2 UTSW 5 122,629,817 (GRCm39) missense probably benign 0.00
R1538:Atp2a2 UTSW 5 122,595,440 (GRCm39) missense probably damaging 1.00
R1985:Atp2a2 UTSW 5 122,604,899 (GRCm39) missense probably benign 0.03
R2111:Atp2a2 UTSW 5 122,597,609 (GRCm39) missense probably damaging 1.00
R2517:Atp2a2 UTSW 5 122,595,576 (GRCm39) missense probably damaging 0.99
R4225:Atp2a2 UTSW 5 122,607,789 (GRCm39) missense probably benign
R4473:Atp2a2 UTSW 5 122,595,327 (GRCm39) missense probably benign 0.01
R4956:Atp2a2 UTSW 5 122,599,643 (GRCm39) missense probably benign 0.02
R4969:Atp2a2 UTSW 5 122,596,554 (GRCm39) missense possibly damaging 0.95
R5242:Atp2a2 UTSW 5 122,600,009 (GRCm39) missense probably damaging 1.00
R5307:Atp2a2 UTSW 5 122,599,810 (GRCm39) missense probably benign 0.06
R5497:Atp2a2 UTSW 5 122,596,232 (GRCm39) missense probably damaging 1.00
R5536:Atp2a2 UTSW 5 122,595,245 (GRCm39) missense probably benign 0.05
R5629:Atp2a2 UTSW 5 122,598,159 (GRCm39) missense probably damaging 1.00
R6365:Atp2a2 UTSW 5 122,599,979 (GRCm39) missense probably benign 0.20
R6383:Atp2a2 UTSW 5 122,639,712 (GRCm39) missense probably benign 0.37
R6534:Atp2a2 UTSW 5 122,595,261 (GRCm39) missense possibly damaging 0.73
R7162:Atp2a2 UTSW 5 122,627,387 (GRCm39) missense probably benign 0.00
R7259:Atp2a2 UTSW 5 122,604,132 (GRCm39) missense probably benign 0.27
R7268:Atp2a2 UTSW 5 122,605,792 (GRCm39) missense probably benign 0.00
R7465:Atp2a2 UTSW 5 122,599,763 (GRCm39) missense probably benign
R7489:Atp2a2 UTSW 5 122,605,830 (GRCm39) missense probably benign
R7567:Atp2a2 UTSW 5 122,629,847 (GRCm39) missense probably benign 0.29
R7729:Atp2a2 UTSW 5 122,629,829 (GRCm39) missense probably benign 0.30
R7734:Atp2a2 UTSW 5 122,596,590 (GRCm39) missense possibly damaging 0.95
R7739:Atp2a2 UTSW 5 122,607,768 (GRCm39) missense probably damaging 0.98
R7743:Atp2a2 UTSW 5 122,599,634 (GRCm39) missense probably benign 0.32
R7934:Atp2a2 UTSW 5 122,599,639 (GRCm39) missense probably benign 0.00
R8822:Atp2a2 UTSW 5 122,629,772 (GRCm39) missense possibly damaging 0.71
R9123:Atp2a2 UTSW 5 122,604,918 (GRCm39) nonsense probably null
R9132:Atp2a2 UTSW 5 122,599,633 (GRCm39) missense probably damaging 1.00
R9170:Atp2a2 UTSW 5 122,604,087 (GRCm39) missense possibly damaging 0.95
R9254:Atp2a2 UTSW 5 122,611,315 (GRCm39) missense probably benign 0.23
R9379:Atp2a2 UTSW 5 122,611,315 (GRCm39) missense probably benign 0.23
R9694:Atp2a2 UTSW 5 122,597,708 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGTGTGATCTGGAAAATGAGC -3'
(R):5'- AGCTTTGAGCCTGCTGAGATG -3'

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