Incidental Mutation 'R1968:Atp8a1'
ID 219210
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 039981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1968 (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 67825000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 777 (V777A)
Ref Sequence ENSEMBL: ENSMUSP00000118379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably benign
Transcript: ENSMUST00000037380
AA Change: V792A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: V792A

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: V792A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: V792A

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: ENSMUST00000135930
AA Change: V777A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: V777A

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 probably benign
Transcript: ENSMUST00000200955
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 7.5e-25 PFAM
Pfam:E1-E2_ATPase 106 371 3.7e-13 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,397,193 (GRCm39) Y180H possibly damaging Het
Abcc10 A T 17: 46,633,125 (GRCm39) L528Q probably damaging Het
Adam18 T A 8: 25,136,463 (GRCm39) T353S probably benign Het
Aldh1a3 A G 7: 66,061,248 (GRCm39) probably null Het
Aldh3b2 T A 19: 4,030,705 (GRCm39) M390K probably benign Het
Arhgap45 T C 10: 79,863,536 (GRCm39) I793T probably damaging Het
Arsb A G 13: 93,944,067 (GRCm39) M253V probably benign Het
Atcay T C 10: 81,048,312 (GRCm39) D258G possibly damaging Het
Atf1 G T 15: 100,152,395 (GRCm39) probably null Het
Atp1a4 C T 1: 172,067,731 (GRCm39) E511K probably benign Het
Baz1a T C 12: 54,947,122 (GRCm39) T1173A possibly damaging Het
Bdh2 A T 3: 134,991,370 (GRCm39) D15V probably benign Het
Cacna1e T C 1: 154,576,240 (GRCm39) Y69C probably damaging Het
Caskin2 A G 11: 115,694,440 (GRCm39) L387P probably benign Het
Cat T C 2: 103,315,334 (GRCm39) E17G probably benign Het
Ccdc15 T C 9: 37,259,091 (GRCm39) I54M probably benign Het
Ccn1 T C 3: 145,353,965 (GRCm39) Y275C probably damaging Het
Cdhr1 T G 14: 36,801,682 (GRCm39) I754L probably benign Het
Cep120 G A 18: 53,856,313 (GRCm39) T368I probably benign Het
Cep126 C A 9: 8,100,909 (GRCm39) D542Y probably damaging Het
Cep135 T C 5: 76,772,594 (GRCm39) S660P possibly damaging Het
Cfap70 A T 14: 20,470,879 (GRCm39) S455R possibly damaging Het
Chd8 A G 14: 52,458,450 (GRCm39) M886T probably damaging Het
Ckap5 T C 2: 91,416,688 (GRCm39) S1098P probably benign Het
Clec4e A T 6: 123,260,533 (GRCm39) I204N probably damaging Het
Cntnap5c G A 17: 58,666,291 (GRCm39) R1107H probably damaging Het
Cramp1 T C 17: 25,183,913 (GRCm39) D1234G probably damaging Het
Csf1r A T 18: 61,245,867 (GRCm39) I275L probably benign Het
Cyp27a1 A G 1: 74,776,435 (GRCm39) E457G probably benign Het
Cyp2d11 T C 15: 82,273,749 (GRCm39) T410A probably benign Het
Cyp2d22 G C 15: 82,257,373 (GRCm39) T264S probably benign Het
Daam2 G A 17: 49,790,088 (GRCm39) R390W probably damaging Het
Decr2 T C 17: 26,302,053 (GRCm39) S226G probably benign Het
Dennd6b T C 15: 89,074,544 (GRCm39) D91G possibly damaging Het
Dglucy T C 12: 100,825,903 (GRCm39) V515A possibly damaging Het
Dlg5 A T 14: 24,214,187 (GRCm39) L734* probably null Het
Dop1b A G 16: 93,579,307 (GRCm39) N1690D probably damaging Het
Exoc5 A G 14: 49,272,347 (GRCm39) Y356H probably benign Het
Fut7 T A 2: 25,315,738 (GRCm39) V332D probably benign Het
Gnas T C 2: 174,140,526 (GRCm39) S232P probably damaging Het
Gramd4 A G 15: 86,017,106 (GRCm39) E522G probably damaging Het
Gys1 A G 7: 45,092,970 (GRCm39) T297A probably damaging Het
Herc4 T C 10: 63,109,304 (GRCm39) S180P probably benign Het
Hivep3 C T 4: 119,953,435 (GRCm39) P584S possibly damaging Het
Irag2 T A 6: 145,115,499 (GRCm39) S310T probably damaging Het
Itpk1 G T 12: 102,641,729 (GRCm39) probably null Het
Jmjd1c A T 10: 67,061,219 (GRCm39) S1191C probably damaging Het
Lima1 T C 15: 99,717,565 (GRCm39) N147S probably benign Het
Map4k5 G A 12: 69,865,266 (GRCm39) T506I probably damaging Het
Mat1a A T 14: 40,832,991 (GRCm39) E58V probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Mon2 A G 10: 122,845,470 (GRCm39) Y1413H probably damaging Het
Mpp3 C A 11: 101,909,378 (GRCm39) probably benign Het
Mpp4 T A 1: 59,183,961 (GRCm39) I260F probably damaging Het
Myocd C A 11: 65,091,733 (GRCm39) G70C probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nckap5 T A 1: 125,942,367 (GRCm39) D209V probably damaging Het
Nlrp9a A G 7: 26,264,366 (GRCm39) K707R probably benign Het
Npr3 A G 15: 11,905,055 (GRCm39) L224S probably benign Het
Or5m9b T A 2: 85,905,549 (GRCm39) L155Q probably damaging Het
Or5w20 T A 2: 87,727,383 (GRCm39) V280E probably damaging Het
Or6c74 A G 10: 129,869,602 (GRCm39) S36G probably damaging Het
Otof C T 5: 30,545,998 (GRCm39) D467N probably damaging Het
Paxx T C 2: 25,350,640 (GRCm39) probably benign Het
Pcmt1 G A 10: 7,516,474 (GRCm39) R179* probably null Het
Phkb T A 8: 86,697,580 (GRCm39) V463D probably benign Het
Prkcq T C 2: 11,250,208 (GRCm39) V175A probably damaging Het
Rasl11b T G 5: 74,356,797 (GRCm39) I58S probably damaging Het
Rb1cc1 A T 1: 6,318,419 (GRCm39) probably null Het
Reck T A 4: 43,913,771 (GRCm39) probably null Het
Riox1 G T 12: 83,998,156 (GRCm39) D231Y probably damaging Het
Rlf T A 4: 121,005,617 (GRCm39) N1231I probably damaging Het
Rpn1 A G 6: 88,072,530 (GRCm39) D291G possibly damaging Het
Samsn1 C T 16: 75,742,461 (GRCm39) noncoding transcript Het
Scara5 T C 14: 65,927,249 (GRCm39) C49R possibly damaging Het
Serpini1 A G 3: 75,521,785 (GRCm39) D92G probably benign Het
Setdb2 A T 14: 59,656,858 (GRCm39) L153Q probably damaging Het
Sh3rf3 C T 10: 58,649,809 (GRCm39) T138M probably benign Het
Shkbp1 C T 7: 27,054,825 (GRCm39) probably null Het
Slc22a29 G A 19: 8,195,707 (GRCm39) P111S probably benign Het
Smarca1 A G X: 46,941,564 (GRCm39) V618A probably damaging Het
Spef2 T A 15: 9,609,602 (GRCm39) M1308L probably damaging Het
Spink5 A G 18: 44,123,775 (GRCm39) N354S probably benign Het
Srrm2 T C 17: 24,040,465 (GRCm39) S2370P probably damaging Het
Ssxb3 A T X: 8,454,905 (GRCm39) I28N probably damaging Het
Sucla2 A G 14: 73,831,119 (GRCm39) T411A probably damaging Het
Tex38 A C 4: 115,637,537 (GRCm39) S89A probably benign Het
Tjp2 A T 19: 24,088,437 (GRCm39) D723E probably damaging Het
Tln2 A T 9: 67,163,183 (GRCm39) N1121K probably damaging Het
Tti1 T C 2: 157,850,966 (GRCm39) E91G possibly damaging Het
Wbp2 A T 11: 115,973,191 (GRCm39) M72K possibly damaging Het
Wdfy4 C A 14: 32,828,001 (GRCm39) C1062F possibly damaging Het
Wiz A G 17: 32,578,346 (GRCm39) Y389H probably damaging Het
Zcchc3 T C 2: 152,256,012 (GRCm39) K229R probably damaging Het
Zmat3 C A 3: 32,415,131 (GRCm39) D60Y 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
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
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'- AATTCCAGGCACCGTGAACC -3'
(R):5'- AGGAGATGCGTTTCCTTTATCCAG -3'

Sequencing Primer
(F):5'- TTGCCCTGACGCAAAGG -3'
(R):5'- CTTTATCCAGTTGTTTTGCGTCG -3'
Posted On 2014-08-25