Incidental Mutation 'R2348:Atp9a'
ID 246022
Institutional Source Beutler Lab
Gene Symbol Atp9a
Ensembl Gene ENSMUSG00000027546
Gene Name ATPase, class II, type 9A
Synonyms IIa, Class II
MMRRC Submission 040330-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2348 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 168476358-168584290 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 168552746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029060] [ENSMUST00000109175] [ENSMUST00000109176] [ENSMUST00000109177] [ENSMUST00000123156] [ENSMUST00000151610] [ENSMUST00000178504] [ENSMUST00000156397] [ENSMUST00000156555]
AlphaFold O70228
Predicted Effect probably benign
Transcript: ENSMUST00000029060
SMART Domains Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
Pfam:E1-E2_ATPase 108 368 7.4e-21 PFAM
Pfam:Hydrolase 385 797 1.5e-19 PFAM
Pfam:HAD 388 794 1.1e-14 PFAM
Pfam:Hydrolase_like2 464 579 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109175
SMART Domains Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
Pfam:E1-E2_ATPase 92 352 7.2e-21 PFAM
Pfam:Hydrolase 369 781 1.4e-19 PFAM
Pfam:HAD 372 778 1.1e-14 PFAM
Pfam:Hydrolase_like2 448 563 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109176
SMART Domains Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
low complexity region 18 57 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 97 163 1.9e-20 PFAM
Pfam:E1-E2_ATPase 166 418 5.8e-13 PFAM
Pfam:Hydrolase 443 855 2.8e-13 PFAM
Pfam:HAD 446 852 2.4e-14 PFAM
Pfam:Cation_ATPase 522 635 1.5e-6 PFAM
Pfam:PhoLip_ATPase_C 869 1098 1.7e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109177
SMART Domains Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
low complexity region 55 70 N/A INTRINSIC
Pfam:E1-E2_ATPase 90 350 7.2e-21 PFAM
Pfam:Hydrolase 367 779 1.4e-19 PFAM
Pfam:HAD 370 776 1.1e-14 PFAM
Pfam:Hydrolase_like2 446 561 3.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123156
SMART Domains Protein: ENSMUSP00000114868
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
SCOP:d1eula_ 29 112 8e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140188
Predicted Effect probably benign
Transcript: ENSMUST00000151610
SMART Domains Protein: ENSMUSP00000121364
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178504
SMART Domains Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
Pfam:E1-E2_ATPase 108 368 7.4e-21 PFAM
Pfam:Hydrolase 385 797 1.5e-19 PFAM
Pfam:HAD 388 794 1.1e-14 PFAM
Pfam:Hydrolase_like2 464 579 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156397
SMART Domains Protein: ENSMUSP00000119732
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
SCOP:d1eula_ 83 189 6e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156555
SMART Domains Protein: ENSMUSP00000119315
Gene: ENSMUSG00000027546

DomainStartEndE-ValueType
SCOP:d1eula_ 28 87 4e-3 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1 A G 17: 93,509,702 (GRCm39) D51G possibly damaging Het
Ano3 A G 2: 110,614,088 (GRCm39) I205T possibly damaging Het
Arhgap10 A T 8: 78,177,555 (GRCm39) probably benign Het
Asb18 T G 1: 89,942,256 (GRCm39) D15A probably damaging Het
Atm C A 9: 53,403,568 (GRCm39) S1368I possibly damaging Het
C2cd3 T C 7: 100,062,573 (GRCm39) V653A probably damaging Het
Ctc1 T A 11: 68,917,017 (GRCm39) S304T probably benign Het
Dennd4c G A 4: 86,729,764 (GRCm39) V789I probably benign Het
Dlgap4 C A 2: 156,543,126 (GRCm39) D176E possibly damaging Het
Hdac5 T C 11: 102,090,840 (GRCm39) T747A probably benign Het
Htr2a A T 14: 74,882,550 (GRCm39) N179Y probably damaging Het
Ift52 T C 2: 162,887,177 (GRCm39) V393A probably damaging Het
Itch T C 2: 155,050,998 (GRCm39) S562P possibly damaging Het
Khdc4 T C 3: 88,616,183 (GRCm39) S457P probably benign Het
Kiss1r G T 10: 79,757,654 (GRCm39) R336L probably benign Het
Klra13-ps A T 6: 130,268,271 (GRCm39) noncoding transcript Het
Krt8 T C 15: 101,907,300 (GRCm39) D261G probably benign Het
Mycl A T 4: 122,890,745 (GRCm39) T144S probably benign Het
Naip5 C T 13: 100,356,246 (GRCm39) R1123K probably benign Het
Or5b122 A T 19: 13,563,553 (GRCm39) E295V probably damaging Het
Rasip1 T G 7: 45,278,507 (GRCm39) probably null Het
Rc3h1 C A 1: 160,778,430 (GRCm39) R452S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Vmn2r88 A T 14: 51,651,461 (GRCm39) K258N probably benign Het
Vps37c T C 19: 10,683,664 (GRCm39) S29P probably damaging Het
Zfp457 T A 13: 67,441,468 (GRCm39) D369V probably benign Het
Other mutations in Atp9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Atp9a APN 2 168,482,600 (GRCm39) missense probably benign 0.24
IGL01594:Atp9a APN 2 168,532,932 (GRCm39) missense probably damaging 1.00
IGL01911:Atp9a APN 2 168,495,481 (GRCm39) missense probably damaging 1.00
IGL02606:Atp9a APN 2 168,494,588 (GRCm39) missense probably damaging 1.00
IGL02639:Atp9a APN 2 168,491,540 (GRCm39) missense probably damaging 1.00
IGL03011:Atp9a APN 2 168,494,552 (GRCm39) missense probably damaging 1.00
IGL03294:Atp9a APN 2 168,531,225 (GRCm39) missense probably benign 0.04
IGL03310:Atp9a APN 2 168,481,879 (GRCm39) missense probably damaging 1.00
R0114:Atp9a UTSW 2 168,552,776 (GRCm39) nonsense probably null
R0194:Atp9a UTSW 2 168,485,805 (GRCm39) missense probably benign 0.00
R0427:Atp9a UTSW 2 168,482,617 (GRCm39) critical splice acceptor site probably null
R0508:Atp9a UTSW 2 168,491,446 (GRCm39) splice site probably null
R1611:Atp9a UTSW 2 168,515,489 (GRCm39) missense probably damaging 1.00
R2120:Atp9a UTSW 2 168,495,457 (GRCm39) missense probably damaging 1.00
R2330:Atp9a UTSW 2 168,481,849 (GRCm39) missense probably benign 0.01
R2404:Atp9a UTSW 2 168,517,283 (GRCm39) critical splice acceptor site probably null
R2881:Atp9a UTSW 2 168,548,134 (GRCm39) missense probably damaging 1.00
R2882:Atp9a UTSW 2 168,548,134 (GRCm39) missense probably damaging 1.00
R4029:Atp9a UTSW 2 168,531,245 (GRCm39) missense probably damaging 1.00
R4371:Atp9a UTSW 2 168,491,535 (GRCm39) missense probably damaging 1.00
R4411:Atp9a UTSW 2 168,503,853 (GRCm39) missense probably damaging 1.00
R4446:Atp9a UTSW 2 168,523,917 (GRCm39) missense possibly damaging 0.75
R4583:Atp9a UTSW 2 168,531,280 (GRCm39) splice site probably null
R4626:Atp9a UTSW 2 168,481,863 (GRCm39) missense probably damaging 1.00
R4661:Atp9a UTSW 2 168,479,592 (GRCm39) missense possibly damaging 0.52
R4679:Atp9a UTSW 2 168,503,884 (GRCm39) missense possibly damaging 0.95
R4738:Atp9a UTSW 2 168,510,101 (GRCm39) missense probably benign
R5191:Atp9a UTSW 2 168,503,983 (GRCm39) missense possibly damaging 0.51
R5216:Atp9a UTSW 2 168,516,808 (GRCm39) missense probably benign 0.38
R5280:Atp9a UTSW 2 168,481,908 (GRCm39) missense possibly damaging 0.66
R5509:Atp9a UTSW 2 168,481,857 (GRCm39) missense probably damaging 1.00
R5798:Atp9a UTSW 2 168,532,884 (GRCm39) critical splice donor site probably null
R5807:Atp9a UTSW 2 168,495,454 (GRCm39) missense probably damaging 0.98
R5926:Atp9a UTSW 2 168,548,191 (GRCm39) missense probably damaging 1.00
R6046:Atp9a UTSW 2 168,476,790 (GRCm39) missense probably benign 0.42
R6244:Atp9a UTSW 2 168,531,272 (GRCm39) critical splice acceptor site probably null
R6307:Atp9a UTSW 2 168,510,090 (GRCm39) missense probably benign 0.02
R6345:Atp9a UTSW 2 168,518,093 (GRCm39) missense probably damaging 0.99
R6442:Atp9a UTSW 2 168,491,481 (GRCm39) missense probably benign 0.01
R6459:Atp9a UTSW 2 168,509,933 (GRCm39) missense probably damaging 1.00
R6769:Atp9a UTSW 2 168,516,820 (GRCm39) missense probably damaging 1.00
R6771:Atp9a UTSW 2 168,516,820 (GRCm39) missense probably damaging 1.00
R6841:Atp9a UTSW 2 168,496,140 (GRCm39) missense possibly damaging 0.87
R7271:Atp9a UTSW 2 168,576,047 (GRCm39)
R7422:Atp9a UTSW 2 168,490,513 (GRCm39) missense probably damaging 1.00
R7490:Atp9a UTSW 2 168,517,272 (GRCm39) missense probably benign 0.00
R7827:Atp9a UTSW 2 168,547,114 (GRCm39) missense probably benign 0.03
R7833:Atp9a UTSW 2 168,516,777 (GRCm39) missense probably benign 0.02
R7854:Atp9a UTSW 2 168,490,523 (GRCm39) missense probably benign 0.02
R7963:Atp9a UTSW 2 168,516,732 (GRCm39) missense probably damaging 1.00
R8331:Atp9a UTSW 2 168,517,217 (GRCm39) missense probably benign 0.01
R8904:Atp9a UTSW 2 168,547,097 (GRCm39) missense probably benign 0.05
R8914:Atp9a UTSW 2 168,479,420 (GRCm39) critical splice donor site probably null
R9129:Atp9a UTSW 2 168,517,205 (GRCm39) missense probably benign 0.00
R9149:Atp9a UTSW 2 168,575,988 (GRCm39) intron probably benign
R9171:Atp9a UTSW 2 168,485,780 (GRCm39) critical splice donor site probably null
R9189:Atp9a UTSW 2 168,518,060 (GRCm39) critical splice donor site probably null
R9299:Atp9a UTSW 2 168,554,666 (GRCm39) start codon destroyed probably null
R9303:Atp9a UTSW 2 168,517,163 (GRCm39) missense probably benign 0.13
R9305:Atp9a UTSW 2 168,517,163 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGTTGTTCTGTCACACAGGTG -3'
(R):5'- ATAACATGGGCGTGGTCTTG -3'

Sequencing Primer
(F):5'- TCCCAGTCAAGGAAGATG -3'
(R):5'- GATCTTGTGGGTTTGTCTTTCTCAC -3'
Posted On 2014-10-30