Incidental Mutation 'R0715:Atp8a1'
ID 62811
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 038898-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0715 (G1)
Quality Score 127
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67932068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 240 (H240Q)
Ref Sequence ENSEMBL: ENSMUSP00000144465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably benign
Transcript: ENSMUST00000037380
AA Change: H240Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: H240Q

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: H240Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: H240Q

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 noncoding transcript
Transcript: ENSMUST00000130652
Predicted Effect probably benign
Transcript: ENSMUST00000135930
AA Change: H240Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: H240Q

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: ENSMUST00000155911
Predicted Effect probably benign
Transcript: ENSMUST00000200955
AA Change: H240Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: H240Q

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 7.5e-25 PFAM
Pfam:E1-E2_ATPase 106 371 3.7e-13 PFAM
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,179,176 (GRCm39) Y170C probably damaging Het
Adcy2 C T 13: 69,036,161 (GRCm39) V167I probably benign Het
Agl A G 3: 116,545,825 (GRCm39) Y1324H probably damaging Het
Arhgef37 G T 18: 61,641,860 (GRCm39) Q170K probably damaging Het
Asah2 A G 19: 31,994,176 (GRCm39) S390P probably damaging Het
Btbd16 T A 7: 130,390,557 (GRCm39) N151K probably damaging Het
Ccdc73 T A 2: 104,803,499 (GRCm39) probably benign Het
Cecr2 G T 6: 120,735,159 (GRCm39) M21I probably benign Het
Ckap2l T C 2: 129,127,636 (GRCm39) T181A probably benign Het
Col4a3 T C 1: 82,629,879 (GRCm39) probably benign Het
Cplane1 T A 15: 8,252,576 (GRCm39) C1933S probably benign Het
Dnah9 A G 11: 65,972,074 (GRCm39) probably benign Het
Efcab3 T C 11: 104,611,706 (GRCm39) L516P possibly damaging Het
Fat3 T C 9: 16,286,419 (GRCm39) T1035A probably benign Het
Fzd8 A G 18: 9,212,947 (GRCm39) T10A unknown Het
Gm9631 C A 11: 121,833,328 (GRCm39) C636F probably damaging Het
Gp1ba A G 11: 70,531,614 (GRCm39) probably benign Het
Gsk3a A G 7: 24,931,134 (GRCm39) V277A probably damaging Het
H2-M1 T A 17: 36,981,120 (GRCm39) probably benign Het
Hesx1 T A 14: 26,722,809 (GRCm39) W45R probably damaging Het
Il23r T A 6: 67,463,317 (GRCm39) M59L possibly damaging Het
Insc T A 7: 114,444,312 (GRCm39) V433E probably benign Het
Itga8 T C 2: 12,196,053 (GRCm39) probably benign Het
Kif13a T A 13: 46,966,299 (GRCm39) E436V probably damaging Het
Liph A G 16: 21,814,100 (GRCm39) F7S probably benign Het
Lpar2 T C 8: 70,276,823 (GRCm39) V204A probably damaging Het
Lrfn4 T A 19: 4,662,668 (GRCm39) probably null Het
Man2b2 A T 5: 36,983,402 (GRCm39) D182E probably benign Het
Mmp27 T C 9: 7,581,156 (GRCm39) probably benign Het
Mrm1 A G 11: 84,705,639 (GRCm39) probably benign Het
Mtx3 T C 13: 92,986,869 (GRCm39) S271P probably damaging Het
Myh11 A T 16: 14,044,480 (GRCm39) M641K possibly damaging Het
Necab2 A G 8: 120,197,670 (GRCm39) D332G probably damaging Het
Ngfr A G 11: 95,465,065 (GRCm39) I261T possibly damaging Het
Nrap T C 19: 56,345,757 (GRCm39) E617G probably damaging Het
Obscn G T 11: 58,941,306 (GRCm39) T4505K probably benign Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8b57 A G 9: 40,003,807 (GRCm39) Y148H probably damaging Het
Osbpl11 T A 16: 33,062,100 (GRCm39) probably benign Het
Otof A G 5: 30,552,041 (GRCm39) V301A probably damaging Het
Phf3 A T 1: 30,850,919 (GRCm39) L1145Q probably damaging Het
Phospho2 T A 2: 69,626,540 (GRCm39) I232N possibly damaging Het
Pomgnt2 T A 9: 121,811,127 (GRCm39) K551N probably damaging Het
Ptchd3 A G 11: 121,721,984 (GRCm39) T286A possibly damaging Het
Rnf213 A G 11: 119,331,976 (GRCm39) D2396G probably damaging Het
Sh3pxd2b A G 11: 32,373,341 (GRCm39) E836G possibly damaging Het
Simc1 G T 13: 54,673,468 (GRCm39) M605I possibly damaging Het
Slc12a3 G A 8: 95,056,061 (GRCm39) E66K possibly damaging Het
Spg11 T C 2: 121,915,464 (GRCm39) N1060S probably benign Het
Supt5 A T 7: 28,028,462 (GRCm39) W178R probably damaging Het
Tmem41a G T 16: 21,756,740 (GRCm39) F126L probably benign Het
Ube2m T A 7: 12,771,553 (GRCm39) Q35L probably benign Het
Usp33 A G 3: 152,086,211 (GRCm39) D658G probably damaging Het
Vmn2r12 A T 5: 109,238,373 (GRCm39) C456S probably benign Het
Vmn2r81 T A 10: 79,104,434 (GRCm39) D352E probably damaging Het
Zfp516 A G 18: 83,005,388 (GRCm39) Y764C probably damaging Het
Zswim7 A G 11: 62,167,473 (GRCm39) 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
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
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'- CTGAAAACATCCAGCTCCCAGAGTG -3'
(R):5'- AAGCTCTCTCCCTCTCAAGACAGG -3'

Sequencing Primer
(F):5'- ACAGGAACATGGGACTGTCTTTG -3'
(R):5'- CCTCCTTTAGACTTAGGAGACAG -3'
Posted On 2013-07-30