Incidental Mutation 'R4774:Atp8b3'
ID 367778
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 042412-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R4774 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80355418-80374958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80372156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 24 (N24K)
Ref Sequence ENSEMBL: ENSMUSP00000151571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000057910] [ENSMUST00000219648] [ENSMUST00000220326]
AlphaFold Q6UQ17
Predicted Effect probably damaging
Transcript: ENSMUST00000020383
AA Change: N24K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341
AA Change: N24K

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: ENSMUST00000057910
SMART Domains Protein: ENSMUSP00000049705
Gene: ENSMUSG00000047417

DomainStartEndE-ValueType
low complexity region 34 53 N/A INTRINSIC
coiled coil region 83 113 N/A INTRINSIC
low complexity region 180 188 N/A INTRINSIC
low complexity region 365 381 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
low complexity region 507 525 N/A INTRINSIC
low complexity region 533 551 N/A INTRINSIC
low complexity region 561 583 N/A INTRINSIC
low complexity region 667 682 N/A INTRINSIC
Pfam:EloA-BP1 794 954 3.8e-72 PFAM
EXOIII 1051 1210 2.36e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182682
Predicted Effect probably damaging
Transcript: ENSMUST00000219648
AA Change: N24K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000220326
AA Change: N24K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (97/99)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,585,043 (GRCm39) I844V probably damaging Het
Acnat1 T A 4: 49,450,784 (GRCm39) Y109F probably benign Het
Alox12b T C 11: 69,054,033 (GRCm39) V205A probably benign Het
Arl6ip1 G A 7: 117,721,208 (GRCm39) R77C probably damaging Het
Atp8b1 A G 18: 64,666,730 (GRCm39) C1156R possibly damaging Het
Bdh1 T C 16: 31,273,954 (GRCm39) V209A possibly damaging Het
Blm A T 7: 80,113,596 (GRCm39) C1234S probably damaging Het
Caml A G 13: 55,779,740 (GRCm39) D271G possibly damaging Het
Capn11 T C 17: 45,944,006 (GRCm39) D545G probably benign Het
Catspere1 T C 1: 177,765,304 (GRCm39) noncoding transcript Het
Cep128 T C 12: 91,200,969 (GRCm39) E347G probably damaging Het
Cngb3 A G 4: 19,415,713 (GRCm39) T408A possibly damaging Het
Coa8 A G 12: 111,679,823 (GRCm39) T33A possibly damaging Het
Cog1 G A 11: 113,548,253 (GRCm39) R18Q possibly damaging Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Csmd1 T C 8: 16,059,369 (GRCm39) H2122R probably benign Het
Ctu2 T G 8: 123,207,851 (GRCm39) S26A probably benign Het
Dbf4 G A 5: 8,453,062 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,116 (GRCm39) D663E probably benign Het
Dpep2 T C 8: 106,717,388 (GRCm39) T123A possibly damaging Het
Eed A G 7: 89,613,976 (GRCm39) I274T probably damaging Het
Eif3b A G 5: 140,405,255 (GRCm39) D47G probably benign Het
Epas1 T C 17: 87,113,186 (GRCm39) V124A probably damaging Het
Fer1l6 T C 15: 58,449,798 (GRCm39) L668P probably damaging Het
Fnip2 C A 3: 79,373,028 (GRCm39) E1017* probably null Het
Gm43517 A T 12: 49,436,690 (GRCm39) probably benign Het
Got1 A G 19: 43,491,345 (GRCm39) probably null Het
H2-Eb2 T A 17: 34,553,375 (GRCm39) V187E probably damaging Het
H2-Q1 T C 17: 35,540,242 (GRCm39) probably benign Het
Hpgd T C 8: 56,751,454 (GRCm39) V94A probably damaging Het
Htra1 T A 7: 130,586,756 (GRCm39) N446K probably benign Het
Igkv3-4 T A 6: 70,649,269 (GRCm39) S89R probably damaging Het
Immt C T 6: 71,829,720 (GRCm39) T142I probably damaging Het
Itpkb C A 1: 180,245,759 (GRCm39) P759T probably damaging Het
Jmjd1c G A 10: 67,060,571 (GRCm39) V688I possibly damaging Het
Kbtbd13 G T 9: 65,298,025 (GRCm39) R304S probably benign Het
Lama5 A C 2: 179,827,734 (GRCm39) L2176R probably damaging Het
Lrp1b G C 2: 40,551,544 (GRCm39) L418V probably null Het
Lrrc4b C A 7: 44,111,796 (GRCm39) probably null Het
Lyst A G 13: 13,915,182 (GRCm39) N3292S probably damaging Het
Mep1b A T 18: 21,219,241 (GRCm39) I132F probably benign Het
Mettl2 A G 11: 105,017,436 (GRCm39) probably null Het
Nherf2 T C 17: 24,863,873 (GRCm39) M1V probably null Het
Niban1 A T 1: 151,591,445 (GRCm39) D529V probably damaging Het
Nmd3 T C 3: 69,652,569 (GRCm39) L385S probably benign Het
Nol4 T C 18: 23,045,683 (GRCm39) E243G probably damaging Het
Odad1 T A 7: 45,597,804 (GRCm39) S571R probably damaging Het
Or4l1 T A 14: 50,166,726 (GRCm39) I92F probably damaging Het
Or51k1 A G 7: 103,661,795 (GRCm39) I38T probably benign Het
Or5j3 A T 2: 86,129,042 (GRCm39) N294I possibly damaging Het
Or8b52 A G 9: 38,576,519 (GRCm39) I207T probably benign Het
Pcnp A G 16: 55,837,522 (GRCm39) probably benign Het
Pla2g6 A C 15: 79,171,818 (GRCm39) C680G probably damaging Het
Plekha7 G T 7: 115,744,178 (GRCm39) D661E probably damaging Het
Prim1 A T 10: 127,862,887 (GRCm39) probably benign Het
Psg29 T A 7: 16,944,460 (GRCm39) N323K probably benign Het
Ptrh2 G A 11: 86,580,833 (GRCm39) R150H probably damaging Het
Rasa1 A G 13: 85,398,621 (GRCm39) probably benign Het
Rasa3 T C 8: 13,627,501 (GRCm39) D667G probably benign Het
Rnase2a T C 14: 51,493,201 (GRCm39) N55D probably damaging Het
Rsf1 GCGGCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,123 (GRCm39) probably benign Het
Sbp T A 17: 24,164,218 (GRCm39) N133K probably damaging Het
Scml4 A G 10: 42,833,743 (GRCm39) probably benign Het
Sema5b T A 16: 35,483,552 (GRCm39) N1063K probably damaging Het
Serpind1 C T 16: 17,154,272 (GRCm39) T33M probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc15a2 A T 16: 36,602,057 (GRCm39) L80* probably null Het
Sorcs3 A G 19: 48,782,602 (GRCm39) D1039G probably benign Het
Spon1 A G 7: 113,639,102 (GRCm39) E776G probably damaging Het
Tdp1 C T 12: 99,868,623 (GRCm39) A259V possibly damaging Het
Tex46 C A 4: 136,337,991 (GRCm39) P61Q probably benign Het
Tnr T A 1: 159,724,636 (GRCm39) L1109Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpra1 G A 6: 88,887,661 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,705 (GRCm39) H383L possibly damaging Het
Trip6 A G 5: 137,308,433 (GRCm39) C439R probably damaging Het
Tsen2 C T 6: 115,552,894 (GRCm39) S398L possibly damaging Het
Tubgcp2 T C 7: 139,576,074 (GRCm39) D863G probably damaging Het
Ube2d2a A G 18: 35,903,498 (GRCm39) probably benign Het
Umad1 T A 6: 8,427,181 (GRCm39) F145I probably damaging Het
Unc5c A T 3: 141,534,278 (GRCm39) E933V probably damaging Het
Vmn1r208 A G 13: 22,956,646 (GRCm39) F284L probably benign Het
Vmn2r53 T A 7: 12,334,692 (GRCm39) R323* probably null Het
Zan G A 5: 137,387,281 (GRCm39) T4924I unknown Het
Zfp597 G T 16: 3,683,851 (GRCm39) Q302K probably benign 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
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
R6748:Atp8b3 UTSW 10 80,361,058 (GRCm39) missense possibly damaging 0.56
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'- TAACTCGAGAACTCTCAGGGTGG -3'
(R):5'- CCGATACTAGGAGCAGTTGG -3'

Sequencing Primer
(F):5'- GGTGGCTCCCTCACCCC -3'
(R):5'- GTCCAGTCCTGATGTTTACCAG -3'
Posted On 2015-12-29