Incidental Mutation 'R4664:Atp8a1'
ID 353080
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 041922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4664 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67919929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 379 (D379V)
Ref Sequence ENSEMBL: ENSMUSP00000118379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect possibly damaging
Transcript: ENSMUST00000037380
AA Change: D379V

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: D379V

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 9.8e-27 PFAM
Pfam:E1-E2_ATPase 106 371 3e-11 PFAM
Pfam:HAD 406 810 3.8e-23 PFAM
Pfam:Cation_ATPase 485 585 6e-14 PFAM
Pfam:PhoLip_ATPase_C 827 1079 8.2e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000072971
AA Change: D379V

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: D379V

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 104 375 2.1e-22 PFAM
Pfam:Hydrolase 403 798 2.2e-14 PFAM
Pfam:HAD 406 795 3e-18 PFAM
Pfam:Hydrolase_like2 470 570 4.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135930
AA Change: D379V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: D379V

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 1.1e-26 PFAM
Pfam:E1-E2_ATPase 106 371 8.6e-14 PFAM
Pfam:HAD 406 795 3.6e-23 PFAM
Pfam:Cation_ATPase 470 570 1.2e-13 PFAM
Pfam:PhoLip_ATPase_C 812 1064 8.4e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155911
Predicted Effect possibly damaging
Transcript: ENSMUST00000200955
AA Change: D379V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: D379V

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 7.5e-25 PFAM
Pfam:E1-E2_ATPase 106 371 3.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201074
Meta Mutation Damage Score 0.6972 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (110/115)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,840,501 (GRCm39) I391V probably benign Het
Apc T A 18: 34,431,647 (GRCm39) L349M probably damaging Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
Aurkb A G 11: 68,939,435 (GRCm39) K173E probably damaging Het
Bak1 T C 17: 27,241,510 (GRCm39) I83V possibly damaging Het
Btbd17 A C 11: 114,684,832 (GRCm39) V69G probably damaging Het
Cacna1a T A 8: 85,328,396 (GRCm39) Y1597* probably null Het
Camk2a C A 18: 61,088,696 (GRCm39) Q167K possibly damaging Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Ccer2 A G 7: 28,455,928 (GRCm39) E40G probably benign Het
Cdc42bpa A G 1: 179,972,130 (GRCm39) T527A probably damaging Het
Cdkl2 T C 5: 92,185,124 (GRCm39) D89G probably damaging Het
Cep128 G T 12: 91,263,027 (GRCm39) R291S probably damaging Het
Cert1 T C 13: 96,735,965 (GRCm39) V175A probably benign Het
Chd4 A G 6: 125,078,465 (GRCm39) M203V possibly damaging Het
Chrna4 A G 2: 180,679,286 (GRCm39) S54P probably damaging Het
Cic TGTTGCCCTC T 7: 24,990,099 (GRCm39) probably benign Het
Cntn5 T A 9: 10,144,214 (GRCm39) I152L possibly damaging Het
Cntn6 A G 6: 104,705,245 (GRCm39) E154G probably benign Het
Col16a1 A C 4: 129,955,883 (GRCm39) probably benign Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Cyth2 T C 7: 45,460,143 (GRCm39) D183G probably damaging Het
Ddx47 A T 6: 134,989,319 (GRCm39) T48S possibly damaging Het
Dgkk A G X: 6,794,751 (GRCm39) D685G probably benign Het
Dis3l C T 9: 64,238,080 (GRCm39) S29N unknown Het
Dlg5 T C 14: 24,187,249 (GRCm39) H1834R possibly damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Dock3 T A 9: 106,870,743 (GRCm39) N557I possibly damaging Het
Dync2i1 T C 12: 116,219,831 (GRCm39) E37G probably damaging Het
Eprs1 A T 1: 185,105,273 (GRCm39) probably benign Het
Faim2 C A 15: 99,422,581 (GRCm39) probably null Het
Faim2 T G 15: 99,422,582 (GRCm39) S72R probably benign Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fance T C 17: 28,534,636 (GRCm39) probably benign Het
Farsb A T 1: 78,420,402 (GRCm39) H496Q possibly damaging Het
Fryl C T 5: 73,248,022 (GRCm39) E1032K possibly damaging Het
Galnt14 A T 17: 73,814,808 (GRCm39) probably benign Het
Gba2 A T 4: 43,568,619 (GRCm39) probably benign Het
Gjb4 C A 4: 127,245,571 (GRCm39) K123N probably damaging Het
Gmcl1 G A 6: 86,709,980 (GRCm39) T56I probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Gtpbp2 T C 17: 46,472,080 (GRCm39) V5A probably benign Het
Hnrnpr A G 4: 136,044,486 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Hsd3b3 T C 3: 98,649,532 (GRCm39) S264G probably damaging Het
Ints8 T C 4: 11,227,152 (GRCm39) M574V probably benign Het
Kif4-ps G A 12: 101,115,477 (GRCm39) noncoding transcript Het
Klhl14 A T 18: 21,687,765 (GRCm39) N552K probably benign Het
Klhl40 A G 9: 121,609,799 (GRCm39) E528G probably damaging Het
Lactb2 T C 1: 13,717,624 (GRCm39) E133G probably damaging Het
Lratd2 A T 15: 60,695,478 (GRCm39) D89E probably benign Het
Lrrtm2 T C 18: 35,347,310 (GRCm39) probably null Het
Mab21l2 T A 3: 86,454,811 (GRCm39) Y63F probably benign Het
Mbd1 T A 18: 74,402,597 (GRCm39) I33N possibly damaging Het
Mertk G A 2: 128,643,132 (GRCm39) V844M probably benign Het
Myh11 T C 16: 14,044,448 (GRCm39) T652A possibly damaging Het
Nlrp4a C A 7: 26,148,943 (GRCm39) Y183* probably null Het
Noa1 T A 5: 77,447,600 (GRCm39) T558S probably benign Het
Nol11 A T 11: 107,071,826 (GRCm39) S256T possibly damaging Het
Nr1d1 G T 11: 98,662,086 (GRCm39) R183S possibly damaging Het
Nrg2 G T 18: 36,185,948 (GRCm39) Q264K possibly damaging Het
Nsd3 T A 8: 26,188,894 (GRCm39) F1027I probably damaging Het
Ntrk3 T A 7: 78,110,847 (GRCm39) I285F probably damaging Het
Obox8 T C 7: 14,066,771 (GRCm39) N91S possibly damaging Het
Oga T C 19: 45,760,384 (GRCm39) E258G probably benign Het
Orc5 C T 5: 22,751,520 (GRCm39) S63N probably benign Het
Osbpl6 C T 2: 76,398,552 (GRCm39) T412I probably benign Het
P2ry14 C T 3: 59,022,563 (GRCm39) C308Y probably damaging Het
Pacsin1 T C 17: 27,926,038 (GRCm39) F127L probably damaging Het
Pex11b T C 3: 96,551,151 (GRCm39) L198P possibly damaging Het
Pla2g4e A T 2: 120,001,669 (GRCm39) V660E probably damaging Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Polr3b A G 10: 84,550,233 (GRCm39) Y981C probably damaging Het
Popdc2 T A 16: 38,194,649 (GRCm39) S357T probably damaging Het
Prr29 A G 11: 106,267,159 (GRCm39) H58R probably damaging Het
Pyy T A 11: 101,998,178 (GRCm39) M1L possibly damaging Het
Rasd2 T C 8: 75,948,556 (GRCm39) S161P possibly damaging Het
Ryr3 C T 2: 112,826,900 (GRCm39) probably benign Het
Sectm1a G A 11: 120,960,552 (GRCm39) R88C possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Siglecf A T 7: 43,005,837 (GRCm39) I465F possibly damaging Het
Sorl1 A T 9: 41,915,347 (GRCm39) M1294K probably damaging Het
Spam1 A T 6: 24,796,661 (GRCm39) H204L probably benign Het
Sspo A T 6: 48,450,468 (GRCm39) N2586Y possibly damaging Het
Tbc1d4 A G 14: 101,700,263 (GRCm39) probably benign Het
Tceanc2 A T 4: 107,022,757 (GRCm39) S77T probably damaging Het
Tedc2 A G 17: 24,439,114 (GRCm39) probably benign Het
Tgm6 A G 2: 129,979,314 (GRCm39) D148G probably benign Het
Tgm6 A T 2: 129,983,128 (GRCm39) Q239L probably benign Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Tmc4 T C 7: 3,674,270 (GRCm39) probably null Het
Tmem54 A T 4: 129,004,704 (GRCm39) E186D possibly damaging Het
Tpk1 A T 6: 43,588,269 (GRCm39) F32I probably benign Het
Trpc4ap A G 2: 155,514,917 (GRCm39) I97T probably benign Het
Tut7 G A 13: 59,948,413 (GRCm39) T636I possibly damaging Het
Txlnb A G 10: 17,718,942 (GRCm39) E591G probably damaging Het
Tyk2 C T 9: 21,025,503 (GRCm39) A741T probably damaging Het
Ubr4 G A 4: 139,133,829 (GRCm39) E742K possibly damaging Het
Uckl1 A T 2: 181,216,661 (GRCm39) S95T possibly damaging Het
Uevld T A 7: 46,587,734 (GRCm39) D322V probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r238 G T 18: 3,123,300 (GRCm39) T38K probably damaging Het
Vps8 T A 16: 21,262,938 (GRCm39) probably null Het
Wdr83 T C 8: 85,806,680 (GRCm39) probably benign Het
Zfp619 A G 7: 39,183,559 (GRCm39) T51A probably benign Het
Other mutations in Atp8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Atp8a1 APN 5 67,906,486 (GRCm39) missense probably benign 0.20
IGL00778:Atp8a1 APN 5 67,817,246 (GRCm39) missense possibly damaging 0.58
IGL01068:Atp8a1 APN 5 67,824,680 (GRCm39) missense probably benign 0.02
IGL01152:Atp8a1 APN 5 68,004,549 (GRCm39) missense probably damaging 0.99
IGL01572:Atp8a1 APN 5 67,824,994 (GRCm39) missense probably benign
IGL01608:Atp8a1 APN 5 67,970,479 (GRCm39) nonsense probably null
IGL02171:Atp8a1 APN 5 67,895,808 (GRCm39) missense probably damaging 1.00
IGL02330:Atp8a1 APN 5 67,970,520 (GRCm39) missense probably damaging 0.98
IGL02381:Atp8a1 APN 5 67,863,338 (GRCm39) missense probably benign
IGL02420:Atp8a1 APN 5 67,840,126 (GRCm39) missense probably damaging 1.00
IGL02440:Atp8a1 APN 5 67,824,777 (GRCm39) splice site probably benign
IGL02598:Atp8a1 APN 5 67,840,099 (GRCm39) critical splice donor site probably null
IGL03259:Atp8a1 APN 5 67,781,349 (GRCm39) splice site probably null
IGL03336:Atp8a1 APN 5 67,887,150 (GRCm39) nonsense probably null
IGL03380:Atp8a1 APN 5 67,889,529 (GRCm39) missense probably benign 0.25
PIT4131001:Atp8a1 UTSW 5 67,779,945 (GRCm39) nonsense probably null
PIT4445001:Atp8a1 UTSW 5 67,780,003 (GRCm39) missense
R0208:Atp8a1 UTSW 5 67,932,064 (GRCm39) critical splice donor site probably null
R0276:Atp8a1 UTSW 5 67,944,016 (GRCm39) splice site probably benign
R0279:Atp8a1 UTSW 5 67,970,435 (GRCm39) splice site probably null
R0329:Atp8a1 UTSW 5 67,969,416 (GRCm39) splice site probably benign
R0603:Atp8a1 UTSW 5 67,914,039 (GRCm39) critical splice acceptor site probably null
R0715:Atp8a1 UTSW 5 67,932,068 (GRCm39) missense probably benign 0.00
R0763:Atp8a1 UTSW 5 67,817,226 (GRCm39) missense probably benign
R1296:Atp8a1 UTSW 5 67,780,049 (GRCm39) splice site probably benign
R1631:Atp8a1 UTSW 5 67,906,395 (GRCm39) splice site probably null
R1764:Atp8a1 UTSW 5 67,788,910 (GRCm39) missense probably benign 0.14
R1771:Atp8a1 UTSW 5 67,805,074 (GRCm39) missense probably damaging 1.00
R1885:Atp8a1 UTSW 5 67,904,661 (GRCm39) missense possibly damaging 0.82
R1897:Atp8a1 UTSW 5 67,895,772 (GRCm39) missense probably damaging 1.00
R1968:Atp8a1 UTSW 5 67,825,000 (GRCm39) missense probably benign 0.05
R2965:Atp8a1 UTSW 5 67,805,049 (GRCm39) missense probably benign 0.28
R2966:Atp8a1 UTSW 5 67,805,049 (GRCm39) missense probably benign 0.28
R4247:Atp8a1 UTSW 5 67,824,917 (GRCm39) missense probably damaging 1.00
R4353:Atp8a1 UTSW 5 67,926,451 (GRCm39) missense probably damaging 1.00
R4400:Atp8a1 UTSW 5 67,922,221 (GRCm39) missense probably benign 0.13
R4426:Atp8a1 UTSW 5 67,932,171 (GRCm39) missense probably benign 0.22
R4523:Atp8a1 UTSW 5 67,824,943 (GRCm39) missense probably benign 0.00
R4576:Atp8a1 UTSW 5 67,973,158 (GRCm39) intron probably benign
R4622:Atp8a1 UTSW 5 67,840,056 (GRCm39) intron probably benign
R4639:Atp8a1 UTSW 5 67,813,317 (GRCm39) missense probably benign 0.36
R4732:Atp8a1 UTSW 5 67,970,463 (GRCm39) missense probably benign 0.07
R4733:Atp8a1 UTSW 5 67,970,463 (GRCm39) missense probably benign 0.07
R5071:Atp8a1 UTSW 5 67,973,066 (GRCm39) missense probably benign 0.29
R5267:Atp8a1 UTSW 5 67,919,887 (GRCm39) missense probably damaging 1.00
R5314:Atp8a1 UTSW 5 67,863,248 (GRCm39) critical splice donor site probably null
R5424:Atp8a1 UTSW 5 67,969,443 (GRCm39) missense probably damaging 1.00
R5588:Atp8a1 UTSW 5 67,972,027 (GRCm39) missense probably damaging 1.00
R5698:Atp8a1 UTSW 5 67,924,496 (GRCm39) missense probably benign 0.14
R5815:Atp8a1 UTSW 5 67,906,414 (GRCm39) missense probably benign 0.00
R5977:Atp8a1 UTSW 5 67,904,628 (GRCm39) missense possibly damaging 0.94
R6285:Atp8a1 UTSW 5 67,824,950 (GRCm39) missense possibly damaging 0.68
R6341:Atp8a1 UTSW 5 67,840,270 (GRCm39) missense possibly damaging 0.88
R6736:Atp8a1 UTSW 5 67,824,960 (GRCm39) missense probably damaging 1.00
R6746:Atp8a1 UTSW 5 67,908,392 (GRCm39) missense probably benign 0.00
R6887:Atp8a1 UTSW 5 67,895,794 (GRCm39) missense probably benign 0.21
R6946:Atp8a1 UTSW 5 67,779,968 (GRCm39) missense possibly damaging 0.50
R6970:Atp8a1 UTSW 5 67,895,805 (GRCm39) missense probably damaging 1.00
R7035:Atp8a1 UTSW 5 67,938,373 (GRCm39) missense probably benign 0.00
R7218:Atp8a1 UTSW 5 67,860,324 (GRCm39) missense
R7278:Atp8a1 UTSW 5 67,781,380 (GRCm39) missense
R7530:Atp8a1 UTSW 5 67,902,971 (GRCm39) missense
R7548:Atp8a1 UTSW 5 67,973,071 (GRCm39) nonsense probably null
R7594:Atp8a1 UTSW 5 67,808,935 (GRCm39) missense
R7722:Atp8a1 UTSW 5 67,780,041 (GRCm39) critical splice acceptor site probably null
R8152:Atp8a1 UTSW 5 67,919,925 (GRCm39) missense
R9015:Atp8a1 UTSW 5 67,887,250 (GRCm39) missense
R9052:Atp8a1 UTSW 5 67,936,301 (GRCm39) critical splice donor site probably null
R9086:Atp8a1 UTSW 5 67,932,159 (GRCm39) missense
R9169:Atp8a1 UTSW 5 67,824,944 (GRCm39) missense
R9183:Atp8a1 UTSW 5 67,924,378 (GRCm39) missense
R9245:Atp8a1 UTSW 5 67,779,977 (GRCm39) missense unknown
R9401:Atp8a1 UTSW 5 67,906,492 (GRCm39) missense
R9607:Atp8a1 UTSW 5 67,817,250 (GRCm39) missense
R9664:Atp8a1 UTSW 5 67,889,524 (GRCm39) missense
X0019:Atp8a1 UTSW 5 67,906,484 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- CTGTGTGCCATGCATCAAC -3'
(R):5'- ATACTTTTCCGGACCGTCAC -3'

Sequencing Primer
(F):5'- GTGTGCCATGCATCAACAAACG -3'
(R):5'- TTTCCGGACCGTCACACAGAATC -3'
Posted On 2015-10-08