Incidental Mutation 'R5588:Atp8a1'
ID 438883
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 043268-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5588 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67972027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 43 (L43P)
Ref Sequence ENSEMBL: ENSMUSP00000121630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000113651] [ENSMUST00000113652] [ENSMUST00000141443] [ENSMUST00000200955] [ENSMUST00000135930]
AlphaFold P70704
Predicted Effect probably benign
Transcript: ENSMUST00000037380
AA Change: L30P

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: L30P

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 probably benign
Transcript: ENSMUST00000072971
AA Change: L30P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: L30P

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 probably benign
Transcript: ENSMUST00000113651
AA Change: L30P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685
AA Change: L30P

DomainStartEndE-ValueType
Blast:CUB 46 87 4e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113652
AA Change: L30P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685
AA Change: L30P

DomainStartEndE-ValueType
Blast:CUB 46 87 9e-6 BLAST
Pfam:E1-E2_ATPase 104 175 6.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130652
Predicted Effect probably damaging
Transcript: ENSMUST00000141443
AA Change: L43P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685
AA Change: L43P

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 51 106 9.6e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143013
Predicted Effect probably benign
Transcript: ENSMUST00000200955
AA Change: L30P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: L30P

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 7.5e-25 PFAM
Pfam:E1-E2_ATPase 106 371 3.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135930
AA Change: L30P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: L30P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,949,417 (GRCm39) Q1105K possibly damaging Het
Afg3l2 A T 18: 67,573,277 (GRCm39) V175D possibly damaging Het
Aldh1a2 G A 9: 71,190,732 (GRCm39) R325H probably damaging Het
Arhgef18 T A 8: 3,438,878 (GRCm39) probably benign Het
Bdh1 T C 16: 31,256,937 (GRCm39) probably null Het
Ccdc85c T C 12: 108,177,793 (GRCm39) Y320C probably damaging Het
Cobl A T 11: 12,293,886 (GRCm39) L290* probably null Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Dhx34 T C 7: 15,932,825 (GRCm39) H1038R probably damaging Het
Eea1 T C 10: 95,859,772 (GRCm39) V686A probably benign Het
Eif2b4 A T 5: 31,349,517 (GRCm39) C101* probably null Het
Eif4a3 A C 11: 119,186,952 (GRCm39) S84A probably benign Het
Elfn2 T C 15: 78,558,076 (GRCm39) D157G probably damaging Het
Fat2 T A 11: 55,173,103 (GRCm39) I2537F probably damaging Het
Fbxo38 A G 18: 62,659,248 (GRCm39) F350L probably damaging Het
Fgd3 A T 13: 49,440,786 (GRCm39) L215Q probably damaging Het
Fhdc1 A G 3: 84,372,783 (GRCm39) V73A possibly damaging Het
Gapvd1 T A 2: 34,599,166 (GRCm39) T690S probably damaging Het
Gask1a C T 9: 121,794,247 (GRCm39) Q134* probably null Het
Gm14418 A T 2: 177,079,065 (GRCm39) I310K probably benign Het
Gm5141 A T 13: 62,921,584 (GRCm39) N528K probably benign Het
Gsap A C 5: 21,456,147 (GRCm39) E417A probably damaging Het
Kcnab1 A C 3: 65,283,976 (GRCm39) D398A possibly damaging Het
Kif5b T G 18: 6,225,787 (GRCm39) N160T probably benign Het
Lilrb4b G A 10: 51,357,422 (GRCm39) R86Q probably benign Het
Lmo7 T C 14: 102,134,026 (GRCm39) probably null Het
Mlph T C 1: 90,859,321 (GRCm39) S219P possibly damaging Het
Ncapg2 T C 12: 116,376,697 (GRCm39) I95T possibly damaging Het
Nedd9 A T 13: 41,469,437 (GRCm39) I572N possibly damaging Het
Nup155 G A 15: 8,148,737 (GRCm39) probably null Het
Olfml2a T C 2: 38,850,047 (GRCm39) S588P probably damaging Het
Or4a68 T C 2: 89,269,760 (GRCm39) R288G probably damaging Het
Or4c12 T A 2: 89,774,136 (GRCm39) T108S probably benign Het
Or6c1 T G 10: 129,517,705 (GRCm39) N301T possibly damaging Het
Parva C A 7: 112,159,269 (GRCm39) N142K possibly damaging Het
Pclo T A 5: 14,838,412 (GRCm39) S4678R unknown Het
Pcnt T C 10: 76,278,445 (GRCm39) D3G possibly damaging Het
Pdzd2 A C 15: 12,374,367 (GRCm39) S1923A possibly damaging Het
Per1 G A 11: 68,998,453 (GRCm39) G1055D probably damaging Het
Phf8-ps G A 17: 33,285,249 (GRCm39) Q518* probably null Het
Plb1 G A 5: 32,487,293 (GRCm39) probably null Het
Ppp1r14a C T 7: 28,992,709 (GRCm39) P137L probably damaging Het
Rfx2 A T 17: 57,086,890 (GRCm39) S612T possibly damaging Het
Rtel1 T C 2: 180,993,893 (GRCm39) F642L probably benign Het
Sec14l3 T C 11: 4,016,138 (GRCm39) F19S probably damaging Het
Skint8 A T 4: 111,794,089 (GRCm39) M160L probably benign Het
Slc19a3 G T 1: 83,000,776 (GRCm39) Y80* probably null Het
Slc37a1 T A 17: 31,565,431 (GRCm39) W489R probably damaging Het
Smc4 A G 3: 68,933,190 (GRCm39) I604V probably benign Het
Srprb G T 9: 103,076,048 (GRCm39) Y796* probably null Het
Tdrd7 T A 4: 45,992,225 (GRCm39) S220T probably benign Het
Tex15 T C 8: 34,067,215 (GRCm39) F2215S probably damaging Het
Ticrr C T 7: 79,328,853 (GRCm39) A664V probably damaging Het
Tnc T G 4: 63,924,659 (GRCm39) D1013A possibly damaging Het
Tpte T A 8: 22,774,983 (GRCm39) Y18N possibly damaging Het
Ubqlnl T A 7: 103,798,339 (GRCm39) Q386L probably damaging Het
Vmn1r194 T C 13: 22,428,512 (GRCm39) V43A possibly damaging Het
Vmn2r130 A T 17: 23,282,803 (GRCm39) Q161L probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zfhx4 T G 3: 5,468,198 (GRCm39) D2785E probably damaging 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
R4664:Atp8a1 UTSW 5 67,919,929 (GRCm39) missense possibly damaging 0.92
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
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'- GTGCTCCTAACTAAACTGAGAGC -3'
(R):5'- TTGTTGTAAAAGAAACGCCACC -3'

Sequencing Primer
(F):5'- GGCTATCCTGGAACTCACTATGTAG -3'
(R):5'- GCCACCAATAAGGGGCAGC -3'
Posted On 2016-10-26