Incidental Mutation 'R7567:Atp2a2'
ID 585499
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 045629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7567 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 122591576-122640288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122629847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 74 (V74D)
Ref Sequence ENSEMBL: ENSMUSP00000031423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031423] [ENSMUST00000177974] [ENSMUST00000179939]
AlphaFold O55143
Predicted Effect probably benign
Transcript: ENSMUST00000031423
AA Change: V74D

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: V74D

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: V74D

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: V74D

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: V74D

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: V74D

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,226,838 (GRCm39) Q464H probably damaging Het
Abcc5 A T 16: 20,224,260 (GRCm39) S108T probably damaging Het
Acss3 T C 10: 106,959,174 (GRCm39) S91G probably benign Het
Adgrf4 T A 17: 42,978,333 (GRCm39) I337L probably benign Het
Adgrv1 A G 13: 81,581,648 (GRCm39) S4799P probably benign Het
Adgrv1 T C 13: 81,727,596 (GRCm39) D348G probably damaging Het
Afdn A G 17: 14,109,070 (GRCm39) D1546G probably benign Het
Agr2 A T 12: 36,045,946 (GRCm39) R64S probably benign Het
Ankrd13a T A 5: 114,927,545 (GRCm39) probably null Het
Apon T A 10: 128,090,922 (GRCm39) M200K possibly damaging Het
Art4 T C 6: 136,831,428 (GRCm39) S238G possibly damaging Het
Atrnl1 T C 19: 57,687,955 (GRCm39) S807P probably damaging Het
C2cd3 T C 7: 100,080,022 (GRCm39) V936A Het
Car15 T A 16: 17,654,652 (GRCm39) H122L probably damaging Het
Cav3 A T 6: 112,449,428 (GRCm39) R149W probably benign Het
Ccdc8 A T 7: 16,728,687 (GRCm39) I59F probably damaging Het
Ccng2 G A 5: 93,418,731 (GRCm39) V119I probably benign Het
Ceacam2 A G 7: 25,227,333 (GRCm39) I178T probably benign Het
Ces2a A G 8: 105,467,930 (GRCm39) D520G probably benign Het
Cln8 T C 8: 14,945,057 (GRCm39) S124P probably benign Het
Coro2a T A 4: 46,546,674 (GRCm39) D227V probably damaging Het
Cpa4 A C 6: 30,573,889 (GRCm39) R32S probably benign Het
Creb3l4 G T 3: 90,149,729 (GRCm39) D45E probably benign Het
Crybb2 C T 5: 113,213,759 (GRCm39) probably null Het
Cul7 T A 17: 46,965,521 (GRCm39) H566Q probably benign Het
Cyp2b10 A G 7: 25,614,204 (GRCm39) Y226C probably damaging Het
Dennd2a A T 6: 39,499,743 (GRCm39) V274D probably benign Het
Dmbt1 G A 7: 130,663,093 (GRCm39) probably null Het
Drc7 T C 8: 95,794,684 (GRCm39) I363T probably benign Het
Drd3 G A 16: 43,643,047 (GRCm39) V396I probably benign Het
Dync2i1 A T 12: 116,218,130 (GRCm39) probably null Het
Eif2ak4 A G 2: 118,280,795 (GRCm39) N1054S probably benign Het
Epc1 A C 18: 6,450,084 (GRCm39) V458G probably damaging Het
Exoc1 T A 5: 76,685,562 (GRCm39) D91E probably damaging Het
Fat4 T A 3: 38,943,485 (GRCm39) F793I probably damaging Het
Fhod1 T C 8: 106,074,469 (GRCm39) E6G unknown Het
Galnt16 G A 12: 80,628,084 (GRCm39) probably null Het
Ganc A T 2: 120,286,582 (GRCm39) T804S probably benign Het
Gpam A T 19: 55,070,062 (GRCm39) V398E possibly damaging Het
Gpr68 A G 12: 100,844,623 (GRCm39) V307A probably benign Het
Grm7 C T 6: 111,335,722 (GRCm39) S711L probably damaging Het
Hemgn T A 4: 46,397,034 (GRCm39) R67S probably damaging Het
Hmg20b T C 10: 81,182,493 (GRCm39) D281G possibly damaging Het
Ifi211 A C 1: 173,729,401 (GRCm39) F277V probably damaging Het
Ighmbp2 T C 19: 3,322,981 (GRCm39) I322V probably benign Het
Iqce A T 5: 140,671,830 (GRCm39) L265H probably damaging Het
Itgal G T 7: 126,898,960 (GRCm39) A101S probably benign Het
Kif5a C T 10: 127,073,248 (GRCm39) M647I probably benign Het
Kirrel1 G T 3: 87,002,988 (GRCm39) T135K probably damaging Het
Klf16 T C 10: 80,412,622 (GRCm39) Y138C probably benign Het
Klhl7 A G 5: 24,331,844 (GRCm39) T49A probably benign Het
Mr1 T C 1: 155,022,474 (GRCm39) probably benign Het
Mrc1 A T 2: 14,330,104 (GRCm39) I1238F probably damaging Het
Ncoa5 C T 2: 164,846,171 (GRCm39) M225I possibly damaging Het
Nf1 A T 11: 79,438,052 (GRCm39) T121S probably damaging Het
Ngfr T C 11: 95,465,147 (GRCm39) T234A probably benign Het
Ninj1 T G 13: 49,347,356 (GRCm39) F74V probably damaging Het
Npffr1 T C 10: 61,462,088 (GRCm39) V408A probably benign Het
Nsd2 T C 5: 34,003,570 (GRCm39) V240A probably damaging Het
Obi1 T C 14: 104,716,814 (GRCm39) T520A probably damaging Het
Or12d13 T A 17: 37,648,062 (GRCm39) E20D probably benign Het
Or2z2 A G 11: 58,345,992 (GRCm39) M261T probably damaging Het
Or7a35 T A 10: 78,853,379 (GRCm39) F74L probably benign Het
Or8b44 G A 9: 38,410,369 (GRCm39) V135I probably benign Het
Or8g34 T C 9: 39,373,173 (GRCm39) S146P possibly damaging Het
Ovol1 T C 19: 5,601,614 (GRCm39) H136R probably damaging Het
Prag1 T A 8: 36,569,760 (GRCm39) D114E possibly damaging Het
Pramel17 T C 4: 101,694,331 (GRCm39) N184S probably benign Het
Prss3b C A 6: 41,010,127 (GRCm39) R69L probably benign Het
Prss57 T A 10: 79,623,234 (GRCm39) H71L probably benign Het
Ptgs2 T C 1: 149,978,448 (GRCm39) F187L probably damaging Het
Ptprz1 A T 6: 22,959,779 (GRCm39) N92I probably damaging Het
Rab23 A T 1: 33,773,812 (GRCm39) T91S possibly damaging Het
Rag1 A G 2: 101,474,006 (GRCm39) S379P probably damaging Het
Ribc2 G T 15: 85,027,448 (GRCm39) D310Y probably damaging Het
Rims1 A G 1: 22,507,291 (GRCm39) Y620H probably damaging Het
Rock1 A C 18: 10,090,820 (GRCm39) V938G probably benign Het
Rsph10b A G 5: 143,886,244 (GRCm39) N314S possibly damaging Het
Sertad1 A G 7: 27,189,327 (GRCm39) D216G possibly damaging Het
Shisal1 G A 15: 84,290,914 (GRCm39) T131M probably benign Het
Slco6d1 T A 1: 98,425,252 (GRCm39) V600D probably damaging Het
Snapc2 T C 8: 4,305,314 (GRCm39) I232T probably damaging Het
Snx13 A G 12: 35,136,913 (GRCm39) S125G probably damaging Het
Srcin1 C T 11: 97,425,551 (GRCm39) R502H probably damaging Het
Tesmin A G 19: 3,442,218 (GRCm39) E167G possibly damaging Het
Tex10 T C 4: 48,468,787 (GRCm39) I129M possibly damaging Het
Tmem235 A G 11: 117,754,967 (GRCm39) S140G probably benign Het
Trim60 T A 8: 65,454,177 (GRCm39) D24V probably damaging Het
Ttc39c A G 18: 12,822,936 (GRCm39) E148G probably benign Het
Vmn2r70 G T 7: 85,214,243 (GRCm39) T303K probably benign Het
Wdr48 A T 9: 119,745,894 (GRCm39) T426S possibly damaging Het
Xirp2 A T 2: 67,346,326 (GRCm39) T2856S probably benign Het
Zswim8 A G 14: 20,770,001 (GRCm39) N1356S 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
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
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'- CAGCTTCTCACCCACATTCA -3'
(R):5'- GAGTTGTTGAGTAATCTTAACTAAGGT -3'

Sequencing Primer
(F):5'- TGTAGTTTCAGGACAGCCAC -3'
(R):5'- GATGTAAGGACAAGGGATTT -3'
Posted On 2019-10-17