Incidental Mutation 'R1648:Atp10a'
ID 174026
Institutional Source Beutler Lab
Gene Symbol Atp10a
Ensembl Gene ENSMUSG00000025324
Gene Name ATPase, class V, type 10A
Synonyms pfatp, Atp10c
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R1648 (G1)
Quality Score 158
Status Validated
Chromosome 7
Chromosomal Location 58305914-58479168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58434575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 283 (V283A)
Ref Sequence ENSEMBL: ENSMUSP00000129811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168747]
AlphaFold O54827
Predicted Effect probably damaging
Transcript: ENSMUST00000168747
AA Change: V283A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: V283A

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 55 114 5.2e-23 PFAM
Pfam:E1-E2_ATPase 120 393 6.6e-10 PFAM
low complexity region 633 643 N/A INTRINSIC
Pfam:Cation_ATPase 685 791 1.5e-7 PFAM
Pfam:HAD 697 1054 2.1e-12 PFAM
Pfam:PhoLip_ATPase_C 1071 1316 1.1e-76 PFAM
low complexity region 1458 1477 N/A INTRINSIC
Meta Mutation Damage Score 0.5196 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably damaging Het
Other mutations in Atp10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Atp10a APN 7 58,444,230 (GRCm39) missense probably benign 0.06
IGL00973:Atp10a APN 7 58,457,218 (GRCm39) missense probably damaging 1.00
IGL00984:Atp10a APN 7 58,308,489 (GRCm39) missense probably damaging 1.00
IGL01086:Atp10a APN 7 58,474,066 (GRCm39) missense probably damaging 0.96
IGL01296:Atp10a APN 7 58,463,373 (GRCm39) missense probably benign 0.02
IGL01731:Atp10a APN 7 58,447,310 (GRCm39) missense probably benign 0.16
IGL02081:Atp10a APN 7 58,477,604 (GRCm39) missense possibly damaging 0.62
IGL02095:Atp10a APN 7 58,457,141 (GRCm39) missense probably damaging 1.00
IGL02549:Atp10a APN 7 58,469,481 (GRCm39) missense probably benign 0.00
IGL02558:Atp10a APN 7 58,469,390 (GRCm39) missense probably damaging 0.98
IGL02659:Atp10a APN 7 58,463,379 (GRCm39) missense probably benign
IGL02986:Atp10a APN 7 58,478,469 (GRCm39) missense probably benign
IGL03218:Atp10a APN 7 58,438,196 (GRCm39) critical splice donor site probably null
PIT4260001:Atp10a UTSW 7 58,440,866 (GRCm39) nonsense probably null
PIT4445001:Atp10a UTSW 7 58,453,215 (GRCm39) missense probably damaging 0.98
PIT4810001:Atp10a UTSW 7 58,463,596 (GRCm39) missense probably damaging 0.99
R0091:Atp10a UTSW 7 58,423,794 (GRCm39) splice site probably benign
R0349:Atp10a UTSW 7 58,453,215 (GRCm39) missense probably damaging 0.98
R0426:Atp10a UTSW 7 58,434,482 (GRCm39) missense probably benign 0.00
R0609:Atp10a UTSW 7 58,469,488 (GRCm39) splice site probably null
R0722:Atp10a UTSW 7 58,465,931 (GRCm39) missense possibly damaging 0.75
R0741:Atp10a UTSW 7 58,478,337 (GRCm39) missense possibly damaging 0.90
R1172:Atp10a UTSW 7 58,453,514 (GRCm39) missense probably benign 0.05
R1342:Atp10a UTSW 7 58,465,894 (GRCm39) splice site probably benign
R1715:Atp10a UTSW 7 58,436,253 (GRCm39) missense probably damaging 0.98
R1737:Atp10a UTSW 7 58,476,986 (GRCm39) splice site probably benign
R1799:Atp10a UTSW 7 58,474,182 (GRCm39) missense probably damaging 1.00
R1909:Atp10a UTSW 7 58,478,460 (GRCm39) missense probably benign 0.12
R1918:Atp10a UTSW 7 58,477,683 (GRCm39) missense possibly damaging 0.82
R2031:Atp10a UTSW 7 58,477,678 (GRCm39) nonsense probably null
R2080:Atp10a UTSW 7 58,474,075 (GRCm39) missense probably damaging 0.97
R2424:Atp10a UTSW 7 58,444,303 (GRCm39) missense probably benign 0.16
R2696:Atp10a UTSW 7 58,463,366 (GRCm39) missense probably benign 0.00
R3932:Atp10a UTSW 7 58,476,852 (GRCm39) missense possibly damaging 0.69
R4198:Atp10a UTSW 7 58,463,434 (GRCm39) missense probably damaging 1.00
R4453:Atp10a UTSW 7 58,308,248 (GRCm39) small deletion probably benign
R4632:Atp10a UTSW 7 58,457,186 (GRCm39) missense possibly damaging 0.48
R4661:Atp10a UTSW 7 58,308,248 (GRCm39) small deletion probably benign
R4782:Atp10a UTSW 7 58,440,843 (GRCm39) missense probably benign
R4888:Atp10a UTSW 7 58,435,055 (GRCm39) missense probably damaging 1.00
R4935:Atp10a UTSW 7 58,463,512 (GRCm39) missense probably damaging 1.00
R5051:Atp10a UTSW 7 58,389,994 (GRCm39) frame shift probably null
R5213:Atp10a UTSW 7 58,423,731 (GRCm39) missense probably damaging 0.99
R5617:Atp10a UTSW 7 58,453,423 (GRCm39) missense probably benign 0.06
R5834:Atp10a UTSW 7 58,308,366 (GRCm39) missense probably benign 0.01
R5885:Atp10a UTSW 7 58,463,548 (GRCm39) missense possibly damaging 0.92
R6013:Atp10a UTSW 7 58,447,538 (GRCm39) missense probably benign 0.05
R6136:Atp10a UTSW 7 58,478,088 (GRCm39) missense probably benign
R6269:Atp10a UTSW 7 58,453,487 (GRCm39) missense possibly damaging 0.51
R6380:Atp10a UTSW 7 58,469,432 (GRCm39) nonsense probably null
R6743:Atp10a UTSW 7 58,447,562 (GRCm39) missense possibly damaging 0.89
R6875:Atp10a UTSW 7 58,447,100 (GRCm39) missense probably benign 0.01
R6975:Atp10a UTSW 7 58,423,733 (GRCm39) missense probably damaging 1.00
R7082:Atp10a UTSW 7 58,308,567 (GRCm39) missense probably damaging 1.00
R7203:Atp10a UTSW 7 58,436,221 (GRCm39) missense probably benign
R7224:Atp10a UTSW 7 58,447,219 (GRCm39) missense probably benign 0.00
R7287:Atp10a UTSW 7 58,477,017 (GRCm39) missense probably damaging 1.00
R7437:Atp10a UTSW 7 58,308,288 (GRCm39) missense unknown
R7474:Atp10a UTSW 7 58,308,275 (GRCm39) missense unknown
R7530:Atp10a UTSW 7 58,423,724 (GRCm39) missense probably benign 0.02
R7561:Atp10a UTSW 7 58,476,881 (GRCm39) missense probably damaging 0.98
R7743:Atp10a UTSW 7 58,453,457 (GRCm39) missense probably damaging 1.00
R7767:Atp10a UTSW 7 58,308,597 (GRCm39) missense probably damaging 1.00
R7861:Atp10a UTSW 7 58,438,107 (GRCm39) missense probably damaging 1.00
R7903:Atp10a UTSW 7 58,308,570 (GRCm39) missense probably damaging 1.00
R8015:Atp10a UTSW 7 58,453,245 (GRCm39) missense probably benign 0.00
R8166:Atp10a UTSW 7 58,457,270 (GRCm39) missense possibly damaging 0.46
R8201:Atp10a UTSW 7 58,469,424 (GRCm39) nonsense probably null
R8465:Atp10a UTSW 7 58,478,058 (GRCm39) missense probably benign 0.32
R8858:Atp10a UTSW 7 58,465,971 (GRCm39) missense probably damaging 1.00
R8985:Atp10a UTSW 7 58,438,092 (GRCm39) missense probably benign 0.03
R9003:Atp10a UTSW 7 58,457,203 (GRCm39) missense probably damaging 1.00
R9274:Atp10a UTSW 7 58,478,369 (GRCm39) missense probably benign 0.22
R9385:Atp10a UTSW 7 58,477,887 (GRCm39) missense probably benign 0.00
R9432:Atp10a UTSW 7 58,469,418 (GRCm39) missense possibly damaging 0.95
R9454:Atp10a UTSW 7 58,308,339 (GRCm39) missense probably benign
R9596:Atp10a UTSW 7 58,477,553 (GRCm39) missense probably damaging 1.00
R9736:Atp10a UTSW 7 58,474,078 (GRCm39) missense probably damaging 1.00
Z1176:Atp10a UTSW 7 58,438,195 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCTATGGAGTTACAACCAGACAGCC -3'
(R):5'- CACCAGAGGACATCGCAGTTCATC -3'

Sequencing Primer
(F):5'- TGTTCTTCCACAGCATGCAC -3'
(R):5'- GCCTACAGAGCAATTATGCTG -3'
Posted On 2014-04-24