Incidental Mutation 'R0815:Atp2a2'
ID 78566
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
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122591576-122640288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122609299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 188 (I188V)
Ref Sequence ENSEMBL: ENSMUSP00000135935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031423] [ENSMUST00000177974] [ENSMUST00000179939]
AlphaFold O55143
Predicted Effect probably benign
Transcript: ENSMUST00000031423
AA Change: I188V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: I188V

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 benign
Transcript: ENSMUST00000177974
AA Change: I188V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: I188V

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 benign
Transcript: ENSMUST00000179939
AA Change: I188V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: I188V

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
Meta Mutation Damage Score 0.0677 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly 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
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
R5641:Atp2a2 UTSW 5 122,595,639 (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'- TGCCTTCAGCAAATCACTCCCC -3'
(R):5'- GATCGGTTGAGCCCTTTGTTCTTTCT -3'

Sequencing Primer
(F):5'- ctcactctctcttcccacttc -3'
(R):5'- tctcactgtgttgctcatcc -3'
Posted On 2013-10-16