Incidental Mutation 'R1745:Atp2c2'
ID 193933
Institutional Source Beutler Lab
Gene Symbol Atp2c2
Ensembl Gene ENSMUSG00000034112
Gene Name ATPase, Ca++ transporting, type 2C, member 2
Synonyms 1810010G06Rik
MMRRC Submission 039777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1745 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120426748-120484456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120451833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 133 (V133I)
Ref Sequence ENSEMBL: ENSMUSP00000148585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095171] [ENSMUST00000212454]
AlphaFold A7L9Z8
Predicted Effect probably benign
Transcript: ENSMUST00000095171
AA Change: V133I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: V133I

DomainStartEndE-ValueType
Cation_ATPase_N 54 128 1.27e-12 SMART
Pfam:E1-E2_ATPase 133 366 1.7e-62 PFAM
Pfam:Hydrolase 371 684 5.3e-18 PFAM
Pfam:HAD 374 681 7.4e-11 PFAM
Pfam:Cation_ATPase 437 521 1.1e-17 PFAM
Pfam:Cation_ATPase_C 754 927 1.1e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212454
AA Change: V133I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0842 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,359 (GRCm39) V851E probably benign Het
Adam28 A G 14: 68,870,620 (GRCm39) I351T probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap2a1 T C 7: 44,556,369 (GRCm39) E285G probably damaging Het
Arfgef1 A C 1: 10,243,480 (GRCm39) I1023R probably damaging Het
Bpifb6 A G 2: 153,753,403 (GRCm39) T401A possibly damaging Het
Capn3 G A 2: 120,320,170 (GRCm39) V283M possibly damaging Het
Chd6 A T 2: 160,823,587 (GRCm39) V1261E probably damaging Het
Col22a1 C T 15: 71,878,636 (GRCm39) A174T probably damaging Het
Crnn T C 3: 93,054,198 (GRCm39) V27A probably benign Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkd T C 1: 87,859,766 (GRCm39) probably null Het
Diaph3 A G 14: 87,203,996 (GRCm39) L554P probably damaging Het
Ephb4 A T 5: 137,358,696 (GRCm39) H293L probably benign Het
Erbin G T 13: 103,975,957 (GRCm39) H646N probably damaging Het
Faiml T C 9: 99,116,511 (GRCm39) N60D probably benign Het
Fem1al A G 11: 29,774,723 (GRCm39) S245P probably benign Het
Flot1 A G 17: 36,135,552 (GRCm39) E102G probably damaging Het
Fryl G A 5: 73,190,204 (GRCm39) probably benign Het
Gad1-ps A T 10: 99,281,386 (GRCm39) noncoding transcript Het
Gtf3c3 A G 1: 54,473,371 (GRCm39) S81P probably damaging Het
Hs1bp3 C T 12: 8,371,690 (GRCm39) Q91* probably null Het
Igf1r T C 7: 67,819,661 (GRCm39) C324R probably damaging Het
Il23r G A 6: 67,443,275 (GRCm39) T276I probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Kctd1 A T 18: 15,196,263 (GRCm39) probably benign Het
Kmt2b A T 7: 30,285,275 (GRCm39) M539K possibly damaging Het
Man2b1 T A 8: 85,820,563 (GRCm39) F617I probably damaging Het
Med15 G A 16: 17,473,570 (GRCm39) probably benign Het
Myo9b A G 8: 71,806,691 (GRCm39) K1543R probably damaging Het
N4bp2 A G 5: 65,948,165 (GRCm39) Y265C probably benign Het
N4bp2l2 A T 5: 150,585,424 (GRCm39) N185K probably benign Het
Nkx2-1 A G 12: 56,580,529 (GRCm39) M137T probably benign Het
Or51q1c A G 7: 103,653,270 (GRCm39) T269A probably benign Het
Prickle2 A T 6: 92,353,574 (GRCm39) Y631N probably damaging Het
Ptpro A G 6: 137,377,643 (GRCm39) T698A probably benign Het
Rapgef3 T C 15: 97,648,059 (GRCm39) I690V probably benign Het
Rnf44 G A 13: 54,830,005 (GRCm39) R271W probably damaging Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Ryr2 A G 13: 11,805,153 (GRCm39) Y904H probably damaging Het
Suz12 T C 11: 79,912,922 (GRCm39) L322P probably damaging Het
Tnfsf13 G A 11: 69,575,973 (GRCm39) A38V probably benign Het
Topbp1 G A 9: 103,186,044 (GRCm39) R62H probably benign Het
Tor1aip1 G T 1: 155,906,180 (GRCm39) probably null Het
Trpv4 A T 5: 114,771,215 (GRCm39) V438E probably damaging Het
Tsku A T 7: 98,001,386 (GRCm39) V315E possibly damaging Het
Ttc38 T C 15: 85,717,373 (GRCm39) L16P probably damaging Het
Vmn1r170 A G 7: 23,305,759 (GRCm39) I54V probably damaging Het
Vmn1r71 T C 7: 10,482,196 (GRCm39) D98G probably benign Het
Wdfy3 A T 5: 102,096,795 (GRCm39) D334E probably damaging Het
Zfhx3 T A 8: 109,682,494 (GRCm39) F3311Y unknown Het
Zswim9 A G 7: 13,003,482 (GRCm39) S123P probably damaging Het
Other mutations in Atp2c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Atp2c2 APN 8 120,472,329 (GRCm39) missense probably benign
IGL01624:Atp2c2 APN 8 120,484,189 (GRCm39) missense probably benign 0.00
IGL02133:Atp2c2 APN 8 120,481,074 (GRCm39) missense probably benign 0.00
IGL02221:Atp2c2 APN 8 120,471,073 (GRCm39) missense probably damaging 1.00
IGL02606:Atp2c2 APN 8 120,457,013 (GRCm39) missense probably benign
IGL02657:Atp2c2 APN 8 120,479,771 (GRCm39) missense probably damaging 1.00
IGL02839:Atp2c2 APN 8 120,475,859 (GRCm39) missense possibly damaging 0.85
IGL03122:Atp2c2 APN 8 120,469,414 (GRCm39) missense possibly damaging 0.77
R0031:Atp2c2 UTSW 8 120,475,801 (GRCm39) missense probably benign 0.15
R0372:Atp2c2 UTSW 8 120,484,180 (GRCm39) missense probably benign
R0502:Atp2c2 UTSW 8 120,461,316 (GRCm39) missense probably null 0.99
R0503:Atp2c2 UTSW 8 120,461,316 (GRCm39) missense probably null 0.99
R0584:Atp2c2 UTSW 8 120,465,157 (GRCm39) missense probably benign 0.01
R1225:Atp2c2 UTSW 8 120,461,984 (GRCm39) missense probably damaging 1.00
R1580:Atp2c2 UTSW 8 120,479,726 (GRCm39) missense probably benign 0.00
R1620:Atp2c2 UTSW 8 120,475,865 (GRCm39) missense probably benign
R1638:Atp2c2 UTSW 8 120,482,742 (GRCm39) missense possibly damaging 0.82
R1746:Atp2c2 UTSW 8 120,461,182 (GRCm39) unclassified probably benign
R1907:Atp2c2 UTSW 8 120,476,615 (GRCm39) splice site probably benign
R2104:Atp2c2 UTSW 8 120,476,584 (GRCm39) missense probably benign
R2151:Atp2c2 UTSW 8 120,482,841 (GRCm39) missense probably benign
R2152:Atp2c2 UTSW 8 120,482,841 (GRCm39) missense probably benign
R2154:Atp2c2 UTSW 8 120,482,841 (GRCm39) missense probably benign
R2207:Atp2c2 UTSW 8 120,475,048 (GRCm39) missense probably damaging 1.00
R3874:Atp2c2 UTSW 8 120,462,035 (GRCm39) missense possibly damaging 0.74
R3912:Atp2c2 UTSW 8 120,448,015 (GRCm39) missense probably damaging 1.00
R4093:Atp2c2 UTSW 8 120,476,610 (GRCm39) critical splice donor site probably null
R4782:Atp2c2 UTSW 8 120,475,891 (GRCm39) missense probably damaging 0.97
R4801:Atp2c2 UTSW 8 120,474,426 (GRCm39) missense probably damaging 1.00
R4973:Atp2c2 UTSW 8 120,481,002 (GRCm39) missense probably benign 0.00
R5485:Atp2c2 UTSW 8 120,479,801 (GRCm39) critical splice donor site probably null
R5978:Atp2c2 UTSW 8 120,476,614 (GRCm39) splice site probably null
R6377:Atp2c2 UTSW 8 120,453,093 (GRCm39) missense probably benign 0.10
R6613:Atp2c2 UTSW 8 120,482,760 (GRCm39) missense probably damaging 0.99
R6765:Atp2c2 UTSW 8 120,479,756 (GRCm39) missense probably damaging 1.00
R6836:Atp2c2 UTSW 8 120,461,154 (GRCm39) missense probably damaging 1.00
R6963:Atp2c2 UTSW 8 120,457,006 (GRCm39) nonsense probably null
R7220:Atp2c2 UTSW 8 120,472,300 (GRCm39) missense probably benign 0.00
R7238:Atp2c2 UTSW 8 120,469,160 (GRCm39) missense possibly damaging 0.73
R7373:Atp2c2 UTSW 8 120,456,991 (GRCm39) missense probably benign 0.02
R7438:Atp2c2 UTSW 8 120,474,936 (GRCm39) missense probably damaging 1.00
R7573:Atp2c2 UTSW 8 120,478,008 (GRCm39) missense probably damaging 1.00
R7677:Atp2c2 UTSW 8 120,474,915 (GRCm39) missense probably benign 0.00
R7737:Atp2c2 UTSW 8 120,469,134 (GRCm39) missense probably damaging 1.00
R7912:Atp2c2 UTSW 8 120,456,917 (GRCm39) missense possibly damaging 0.81
R8821:Atp2c2 UTSW 8 120,476,033 (GRCm39) splice site probably null
R8831:Atp2c2 UTSW 8 120,476,033 (GRCm39) splice site probably null
R9200:Atp2c2 UTSW 8 120,474,999 (GRCm39) nonsense probably null
R9211:Atp2c2 UTSW 8 120,446,032 (GRCm39) missense probably benign
R9246:Atp2c2 UTSW 8 120,456,989 (GRCm39) missense probably damaging 1.00
R9285:Atp2c2 UTSW 8 120,465,141 (GRCm39) missense probably benign 0.00
RF004:Atp2c2 UTSW 8 120,479,561 (GRCm39) missense probably damaging 1.00
RF012:Atp2c2 UTSW 8 120,472,253 (GRCm39) missense possibly damaging 0.91
Z1177:Atp2c2 UTSW 8 120,461,124 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCCACAAGTCTGTCAATGGTG -3'
(R):5'- GGTGCCTGAAAATGAGGTTGTCCTG -3'

Sequencing Primer
(F):5'- TAATGGATTGAGCAGTCCCC -3'
(R):5'- AGGTTGTCCTGTAGCCTCTG -3'
Posted On 2014-05-23