Incidental Mutation 'R6748:Atp8b3'
ID 530651
Institutional Source Beutler Lab
Gene Symbol Atp8b3
Ensembl Gene ENSMUSG00000003341
Gene Name ATPase, class I, type 8B, member 3
Synonyms 1700042F02Rik, 1700056N23Rik, SAPLT
MMRRC Submission 044865-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80355418-80374958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80361058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 926 (M926K)
Ref Sequence ENSEMBL: ENSMUSP00000020383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000220326]
AlphaFold Q6UQ17
Predicted Effect possibly damaging
Transcript: ENSMUST00000020383
AA Change: M926K

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: M926K

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 20 97 9.3e-29 PFAM
Pfam:E1-E2_ATPase 121 367 2.2e-10 PFAM
Pfam:HAD 404 866 3.7e-17 PFAM
Pfam:Cation_ATPase 481 580 8.3e-12 PFAM
Pfam:PhoLip_ATPase_C 883 1135 4.2e-61 PFAM
low complexity region 1140 1153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220326
AA Change: H839Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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 the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 C A 1: 38,574,327 (GRCm39) R178I probably damaging Het
Agr3 A G 12: 35,997,594 (GRCm39) probably null Het
Aoc1 C T 6: 48,883,228 (GRCm39) T368I possibly damaging Het
Aph1c A G 9: 66,740,577 (GRCm39) S50P probably damaging Het
Arhgap30 A G 1: 171,232,378 (GRCm39) E341G possibly damaging Het
C1qtnf9 A G 14: 61,017,276 (GRCm39) N269D probably damaging Het
Cdc42bpb T C 12: 111,261,273 (GRCm39) probably benign Het
Clec4a1 T C 6: 122,910,856 (GRCm39) I237T possibly damaging Het
Clpx A G 9: 65,217,441 (GRCm39) N3S probably benign Het
Col19a1 A G 1: 24,573,151 (GRCm39) I207T unknown Het
Cyp2j8 T A 4: 96,363,782 (GRCm39) T294S probably benign Het
Dnah1 A G 14: 31,021,945 (GRCm39) I1186T probably damaging Het
Dnhd1 T G 7: 105,369,844 (GRCm39) V4423G probably benign Het
Dock4 A T 12: 40,754,465 (GRCm39) I485F probably benign Het
Drd2 T A 9: 49,314,502 (GRCm39) C244* probably null Het
Frmpd1 T A 4: 45,274,397 (GRCm39) I435K probably benign Het
Fzd5 A G 1: 64,774,723 (GRCm39) M346T possibly damaging Het
Gc T C 5: 89,583,431 (GRCm39) T371A probably benign Het
Gm12185 T A 11: 48,807,123 (GRCm39) T23S possibly damaging Het
Hbq1a A G 11: 32,250,169 (GRCm39) probably null Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Il1rap A T 16: 26,541,106 (GRCm39) N449I probably benign Het
Itgb5 T A 16: 33,719,667 (GRCm39) D279E probably damaging Het
Mat2b T A 11: 40,571,021 (GRCm39) I268F probably benign Het
Mtor T C 4: 148,634,641 (GRCm39) F2421L probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Nkx2-6 A G 14: 69,412,555 (GRCm39) D241G probably benign Het
Or4f14 T A 2: 111,742,702 (GRCm39) N191I possibly damaging Het
Or5h23 T A 16: 58,906,253 (GRCm39) M198L probably benign Het
Pcdhb22 A C 18: 37,651,799 (GRCm39) D89A probably damaging Het
Pcnx2 C T 8: 126,577,074 (GRCm39) R986Q probably damaging Het
Plxna2 A G 1: 194,476,490 (GRCm39) probably null Het
Ppwd1 A T 13: 104,344,538 (GRCm39) Y527* probably null Het
Pramel35 T C 5: 94,000,072 (GRCm39) W38R probably benign Het
Rnf126 A G 10: 79,597,970 (GRCm39) L131P probably benign Het
Rsl1 T A 13: 67,330,688 (GRCm39) C379S probably benign Het
Sec23b A G 2: 144,408,714 (GRCm39) Y133C probably damaging Het
Slc25a24 T A 3: 109,056,823 (GRCm39) V112D possibly damaging Het
Slc35f3 A T 8: 127,121,377 (GRCm39) R413* probably null Het
Tas1r2 T C 4: 139,396,922 (GRCm39) F754L probably damaging Het
Tbc1d14 A G 5: 36,652,598 (GRCm39) S615P probably damaging Het
Ttc17 T C 2: 94,216,447 (GRCm39) K80R probably benign Het
Ttn T C 2: 76,576,428 (GRCm39) T24822A possibly damaging Het
Vmn1r222 C A 13: 23,417,117 (GRCm39) R32L probably benign Het
Zfp354b G A 11: 50,813,659 (GRCm39) T422M probably damaging Het
Zfp407 G A 18: 84,226,955 (GRCm39) T2218M probably damaging Het
Other mutations in Atp8b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Atp8b3 APN 10 80,366,821 (GRCm39) missense probably damaging 1.00
IGL00484:Atp8b3 APN 10 80,361,998 (GRCm39) splice site probably benign
IGL00904:Atp8b3 APN 10 80,364,598 (GRCm39) missense probably damaging 1.00
IGL01326:Atp8b3 APN 10 80,360,210 (GRCm39) missense probably damaging 0.98
IGL01368:Atp8b3 APN 10 80,370,063 (GRCm39) splice site probably benign
IGL01448:Atp8b3 APN 10 80,356,256 (GRCm39) missense probably benign 0.02
IGL01556:Atp8b3 APN 10 80,366,802 (GRCm39) nonsense probably null
IGL01754:Atp8b3 APN 10 80,366,795 (GRCm39) splice site probably null
IGL01809:Atp8b3 APN 10 80,355,845 (GRCm39) missense probably benign 0.02
IGL01895:Atp8b3 APN 10 80,357,662 (GRCm39) missense possibly damaging 0.80
IGL02184:Atp8b3 APN 10 80,363,067 (GRCm39) splice site probably benign
IGL02224:Atp8b3 APN 10 80,361,810 (GRCm39) splice site probably benign
IGL02377:Atp8b3 APN 10 80,356,128 (GRCm39) missense probably benign 0.06
IGL02405:Atp8b3 APN 10 80,366,462 (GRCm39) missense probably damaging 1.00
IGL03090:Atp8b3 APN 10 80,366,438 (GRCm39) missense probably damaging 1.00
IGL03244:Atp8b3 APN 10 80,370,292 (GRCm39) missense probably damaging 1.00
PIT4544001:Atp8b3 UTSW 10 80,366,420 (GRCm39) missense probably benign 0.14
R0277:Atp8b3 UTSW 10 80,362,743 (GRCm39) missense probably benign 0.21
R0908:Atp8b3 UTSW 10 80,355,918 (GRCm39) missense probably benign 0.03
R0973:Atp8b3 UTSW 10 80,370,032 (GRCm39) missense probably damaging 1.00
R1069:Atp8b3 UTSW 10 80,366,852 (GRCm39) missense probably damaging 1.00
R1087:Atp8b3 UTSW 10 80,356,017 (GRCm39) missense probably benign 0.00
R1553:Atp8b3 UTSW 10 80,368,376 (GRCm39) missense probably damaging 1.00
R1603:Atp8b3 UTSW 10 80,361,619 (GRCm39) missense probably benign 0.06
R1606:Atp8b3 UTSW 10 80,368,412 (GRCm39) missense probably damaging 1.00
R1707:Atp8b3 UTSW 10 80,357,635 (GRCm39) splice site probably null
R1717:Atp8b3 UTSW 10 80,364,631 (GRCm39) missense probably damaging 1.00
R1876:Atp8b3 UTSW 10 80,365,912 (GRCm39) missense possibly damaging 0.70
R1939:Atp8b3 UTSW 10 80,361,220 (GRCm39) nonsense probably null
R2138:Atp8b3 UTSW 10 80,362,939 (GRCm39) missense possibly damaging 0.79
R2239:Atp8b3 UTSW 10 80,366,822 (GRCm39) missense probably damaging 1.00
R2429:Atp8b3 UTSW 10 80,362,728 (GRCm39) missense probably benign 0.02
R2696:Atp8b3 UTSW 10 80,370,017 (GRCm39) missense possibly damaging 0.94
R2910:Atp8b3 UTSW 10 80,355,746 (GRCm39) missense possibly damaging 0.90
R3424:Atp8b3 UTSW 10 80,372,181 (GRCm39) missense probably benign 0.35
R3425:Atp8b3 UTSW 10 80,372,181 (GRCm39) missense probably benign 0.35
R3432:Atp8b3 UTSW 10 80,362,014 (GRCm39) missense probably benign 0.10
R3841:Atp8b3 UTSW 10 80,365,540 (GRCm39) missense possibly damaging 0.95
R4515:Atp8b3 UTSW 10 80,359,681 (GRCm39) missense probably benign
R4518:Atp8b3 UTSW 10 80,359,681 (GRCm39) missense probably benign
R4519:Atp8b3 UTSW 10 80,359,681 (GRCm39) missense probably benign
R4619:Atp8b3 UTSW 10 80,361,858 (GRCm39) missense possibly damaging 0.67
R4648:Atp8b3 UTSW 10 80,361,457 (GRCm39) missense possibly damaging 0.94
R4709:Atp8b3 UTSW 10 80,372,604 (GRCm39) splice site probably null
R4774:Atp8b3 UTSW 10 80,372,156 (GRCm39) missense probably damaging 1.00
R4796:Atp8b3 UTSW 10 80,360,188 (GRCm39) missense probably damaging 1.00
R5000:Atp8b3 UTSW 10 80,357,676 (GRCm39) missense possibly damaging 0.82
R5398:Atp8b3 UTSW 10 80,365,533 (GRCm39) missense probably damaging 1.00
R5778:Atp8b3 UTSW 10 80,356,007 (GRCm39) missense probably benign
R5990:Atp8b3 UTSW 10 80,361,531 (GRCm39) missense possibly damaging 0.65
R6124:Atp8b3 UTSW 10 80,365,515 (GRCm39) missense probably damaging 1.00
R6427:Atp8b3 UTSW 10 80,356,157 (GRCm39) splice site probably null
R6756:Atp8b3 UTSW 10 80,361,895 (GRCm39) missense possibly damaging 0.76
R7051:Atp8b3 UTSW 10 80,365,552 (GRCm39) missense probably damaging 0.99
R7051:Atp8b3 UTSW 10 80,355,858 (GRCm39) missense probably benign 0.02
R7052:Atp8b3 UTSW 10 80,355,858 (GRCm39) missense probably benign 0.02
R7418:Atp8b3 UTSW 10 80,365,926 (GRCm39) missense probably damaging 0.99
R7426:Atp8b3 UTSW 10 80,365,463 (GRCm39) critical splice donor site probably null
R7625:Atp8b3 UTSW 10 80,355,980 (GRCm39) missense probably benign 0.00
R7673:Atp8b3 UTSW 10 80,360,240 (GRCm39) missense probably damaging 0.99
R7921:Atp8b3 UTSW 10 80,366,437 (GRCm39) missense probably damaging 1.00
R8077:Atp8b3 UTSW 10 80,366,858 (GRCm39) missense possibly damaging 0.95
R8235:Atp8b3 UTSW 10 80,365,650 (GRCm39) missense probably damaging 0.96
R8354:Atp8b3 UTSW 10 80,361,633 (GRCm39) missense probably benign 0.00
R8454:Atp8b3 UTSW 10 80,361,633 (GRCm39) missense probably benign 0.00
R8501:Atp8b3 UTSW 10 80,355,980 (GRCm39) missense probably benign
R8712:Atp8b3 UTSW 10 80,365,923 (GRCm39) missense possibly damaging 0.52
R8962:Atp8b3 UTSW 10 80,355,896 (GRCm39) missense probably benign 0.13
R9129:Atp8b3 UTSW 10 80,368,412 (GRCm39) missense probably damaging 1.00
R9333:Atp8b3 UTSW 10 80,360,180 (GRCm39) missense probably benign 0.01
R9438:Atp8b3 UTSW 10 80,361,409 (GRCm39) missense probably damaging 1.00
R9486:Atp8b3 UTSW 10 80,366,821 (GRCm39) missense probably damaging 1.00
R9554:Atp8b3 UTSW 10 80,360,197 (GRCm39) missense probably damaging 1.00
R9570:Atp8b3 UTSW 10 80,361,822 (GRCm39) missense probably benign 0.05
R9682:Atp8b3 UTSW 10 80,371,230 (GRCm39) missense probably damaging 1.00
R9748:Atp8b3 UTSW 10 80,364,407 (GRCm39) missense probably damaging 0.96
RF006:Atp8b3 UTSW 10 80,362,070 (GRCm39) missense probably benign 0.15
Z1177:Atp8b3 UTSW 10 80,366,911 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATAGCCTCGCTTTATTGTTGCTG -3'
(R):5'- TGCGGACATTGGTGTAGGAC -3'

Sequencing Primer
(F):5'- AACACAAGGTCTCTCTGTGTAGC -3'
(R):5'- ACATTGGTGTAGGACTGGCAG -3'
Posted On 2018-08-01