Incidental Mutation 'PIT4445001:Atp10a'
ID 555408
Institutional Source Beutler Lab
Gene Symbol Atp10a
Ensembl Gene ENSMUSG00000025324
Gene Name ATPase, class V, type 10A
Synonyms pfatp, Atp10c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # PIT4445001 (G1)
Quality Score 170.009
Status Not validated
Chromosome 7
Chromosomal Location 58305914-58479168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58453215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 798 (D798G)
Ref Sequence ENSEMBL: ENSMUSP00000129811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168747]
AlphaFold O54827
Predicted Effect probably damaging
Transcript: ENSMUST00000168747
AA Change: D798G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: D798G

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
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D 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
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
R1648:Atp10a UTSW 7 58,434,575 (GRCm39) missense probably damaging 1.00
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'- CACCAGTGGGGAATGTTTTG -3'
(R):5'- ACTGTTGAATGCTGCGCTGG -3'

Sequencing Primer
(F):5'- CAAAAACCATGTCAAGTCACTTTTG -3'
(R):5'- CGCTGGGTGCTGTGCATG -3'
Posted On 2019-06-07