Incidental Mutation 'R5978:Atp2c2'
ID 482133
Institutional Source Beutler Lab
Gene Symbol Atp2c2
Ensembl Gene ENSMUSG00000034112
Gene Name ATPase, Ca++ transporting, type 2C, member 2
Synonyms 1810010G06Rik
MMRRC Submission 044160-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5978 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 120426748-120484456 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 120476614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095171]
AlphaFold A7L9Z8
Predicted Effect probably null
Transcript: ENSMUST00000095171
SMART Domains Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks6 T A 4: 47,049,252 (GRCm39) S218C probably damaging Het
Ccdc146 T G 5: 21,521,966 (GRCm39) I353L probably benign Het
Cst3 A T 2: 148,714,741 (GRCm39) M112K probably benign Het
Cst3 T G 2: 148,714,742 (GRCm39) M112L probably benign Het
Cyp2j11 A C 4: 96,207,589 (GRCm39) L242R probably damaging Het
Eif5b T C 1: 38,037,361 (GRCm39) probably null Het
Espl1 A G 15: 102,224,209 (GRCm39) I1253M possibly damaging Het
Fstl5 C T 3: 76,052,392 (GRCm39) H41Y probably damaging Het
Gm11011 T C 2: 169,426,361 (GRCm39) K84R unknown Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Heatr5b C A 17: 79,113,465 (GRCm39) V923F probably damaging Het
Hnrnpll G A 17: 80,341,620 (GRCm39) T473M probably damaging Het
Iars1 T A 13: 49,876,469 (GRCm39) Y845N probably damaging Het
Il34 T A 8: 111,469,317 (GRCm39) D166V probably damaging Het
Kel T A 6: 41,664,979 (GRCm39) H595L probably benign Het
Krt77 T C 15: 101,771,363 (GRCm39) I313M probably benign Het
Krt84 T C 15: 101,438,665 (GRCm39) E274G probably damaging Het
Mctp2 T C 7: 71,739,936 (GRCm39) Y818C probably damaging Het
Mrc1 A T 2: 14,320,204 (GRCm39) Y1046F probably damaging Het
Myom1 A T 17: 71,424,438 (GRCm39) D1429V probably damaging Het
Ncapg2 T C 12: 116,388,291 (GRCm39) M325T possibly damaging Het
Nf1 T A 11: 79,431,245 (GRCm39) I1902N probably damaging Het
Nkain3 A T 4: 20,485,026 (GRCm39) probably null Het
Nlrc5 A T 8: 95,215,221 (GRCm39) N940Y probably damaging Het
Nlrp9a T A 7: 26,256,703 (GRCm39) I107K probably damaging Het
Ntn5 T C 7: 45,343,437 (GRCm39) S328P possibly damaging Het
Or1j17 A C 2: 36,578,694 (GRCm39) K227Q probably benign Het
Parp8 A C 13: 117,032,268 (GRCm39) S302A probably benign Het
Ptgr2 G T 12: 84,342,032 (GRCm39) E27* probably null Het
Rnf115 T A 3: 96,695,982 (GRCm39) I256N probably damaging Het
Ryr3 T A 2: 112,502,614 (GRCm39) H3515L probably benign Het
Scel A G 14: 103,766,690 (GRCm39) probably null Het
Slc4a5 T A 6: 83,254,518 (GRCm39) S572T probably benign Het
Slc4a9 T G 18: 36,668,456 (GRCm39) I705S probably damaging Het
Spint4 C T 2: 164,542,252 (GRCm39) P101L probably damaging Het
Syt9 T A 7: 107,035,620 (GRCm39) D212E probably benign Het
Tmem39a T A 16: 38,411,392 (GRCm39) M449K probably benign Het
Ttn T C 2: 76,639,143 (GRCm39) T13877A possibly damaging Het
Ube2v2 T C 16: 15,394,991 (GRCm39) N20S probably benign Het
Vmn1r14 C T 6: 57,210,929 (GRCm39) S169F probably benign Het
Vps13d T C 4: 144,849,181 (GRCm39) H2410R probably benign Het
Wdr81 G A 11: 75,335,224 (GRCm39) L1781F probably damaging Het
Zfp91 A G 19: 12,747,515 (GRCm39) I536T probably benign 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
R1745:Atp2c2 UTSW 8 120,451,833 (GRCm39) missense probably benign 0.02
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
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'- TTGTGTCAAATGCCGGGAG -3'
(R):5'- ATCAATCCTGTTGCTTGGCCAG -3'

Sequencing Primer
(F):5'- GGGTCAGGGCCACCGTTC -3'
(R):5'- TTGGCCAGCTGAGAGCCTG -3'
Posted On 2017-06-27