Incidental Mutation 'R8830:Atp13a5'
ID 673776
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8830 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 29231851-29378732 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29248176 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1060 (F1060I)
Ref Sequence ENSEMBL: ENSMUSP00000075204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373]
AlphaFold Q3TYU2
Predicted Effect probably damaging
Transcript: ENSMUST00000075806
AA Change: F1060I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: F1060I

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 142 4.1e-31 PFAM
Cation_ATPase_N 163 223 8.78e0 SMART
Pfam:E1-E2_ATPase 228 475 1.5e-35 PFAM
Pfam:Hydrolase 480 759 2.7e-11 PFAM
Pfam:HAD 483 857 1.1e-28 PFAM
Pfam:Cation_ATPase 564 638 1.3e-6 PFAM
transmembrane domain 901 923 N/A INTRINSIC
transmembrane domain 933 950 N/A INTRINSIC
transmembrane domain 971 993 N/A INTRINSIC
transmembrane domain 1042 1061 N/A INTRINSIC
transmembrane domain 1070 1092 N/A INTRINSIC
transmembrane domain 1107 1129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142681
SMART Domains Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 142 7.5e-25 PFAM
Cation_ATPase_N 163 223 8.78e0 SMART
Pfam:E1-E2_ATPase 229 475 1e-36 PFAM
Pfam:Hydrolase 480 860 5.9e-16 PFAM
Pfam:HAD 483 857 4e-27 PFAM
Pfam:Hydrolase_like2 565 638 3.7e-8 PFAM
transmembrane domain 901 923 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143373
AA Change: F1015I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: F1015I

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 142 1e-24 PFAM
Pfam:E1-E2_ATPase 196 430 3.2e-34 PFAM
Pfam:Hydrolase 435 815 9.1e-16 PFAM
Pfam:HAD 438 812 6.2e-27 PFAM
Pfam:Hydrolase_like2 520 593 4.8e-8 PFAM
transmembrane domain 856 878 N/A INTRINSIC
transmembrane domain 888 905 N/A INTRINSIC
transmembrane domain 926 948 N/A INTRINSIC
transmembrane domain 997 1016 N/A INTRINSIC
transmembrane domain 1025 1047 N/A INTRINSIC
transmembrane domain 1062 1084 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
MGI Phenotype PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaed1 G A 13: 64,297,300 (GRCm38) Q170* probably null Het
Abca7 T A 10: 80,008,971 (GRCm38) V1509E probably damaging Het
Abraxas2 A G 7: 132,883,356 (GRCm38) D376G probably damaging Het
Agbl1 A G 7: 76,335,311 (GRCm38) T159A Het
Ahnak2 G A 12: 112,787,036 (GRCm38) R89W Het
Arhgef40 A C 14: 52,003,708 (GRCm38) D1396A probably damaging Het
Atp6v1c1 T A 15: 38,677,545 (GRCm38) F105I probably damaging Het
Atp9b C T 18: 80,765,800 (GRCm38) E635K Het
BC017643 C T 11: 121,228,723 (GRCm38) probably benign Het
Brix1 T A 15: 10,479,596 (GRCm38) Q124L possibly damaging Het
Cep68 A G 11: 20,230,418 (GRCm38) probably benign Het
Cfap46 A G 7: 139,615,649 (GRCm38) S2208P unknown Het
Crisp1 T A 17: 40,294,419 (GRCm38) K234* probably null Het
Cryzl1 C T 16: 91,712,204 (GRCm38) V70I probably benign Het
Dnah7b T C 1: 46,191,793 (GRCm38) Y1404H probably damaging Het
Dot1l A G 10: 80,771,199 (GRCm38) H109R possibly damaging Het
E330034G19Rik A C 14: 24,309,508 (GRCm38) H329P unknown Het
Erbb4 A T 1: 68,075,468 (GRCm38) L939Q probably damaging Het
Fst A T 13: 114,455,828 (GRCm38) C118S probably damaging Het
Gfra3 A G 18: 34,711,136 (GRCm38) V117A possibly damaging Het
Gldc C G 19: 30,100,812 (GRCm38) M928I probably benign Het
Gm5538 A T 3: 59,747,323 (GRCm38) T193S probably benign Het
Gm996 T G 2: 25,577,250 (GRCm38) D883A Het
Greb1 A G 12: 16,688,519 (GRCm38) M1481T probably benign Het
Hecw2 G A 1: 53,891,146 (GRCm38) R1045C probably damaging Het
Hexb C T 13: 97,194,254 (GRCm38) V84I probably benign Het
Hpse T C 5: 100,695,586 (GRCm38) E240G probably benign Het
Hspa12a T C 19: 58,805,463 (GRCm38) D322G possibly damaging Het
Hspa9 A T 18: 34,948,104 (GRCm38) probably null Het
Kif9 A G 9: 110,524,930 (GRCm38) K790R probably damaging Het
Klc2 C T 19: 5,110,366 (GRCm38) probably null Het
Ldha C G 7: 46,850,278 (GRCm38) N144K probably benign Het
Micalcl A G 7: 112,381,196 (GRCm38) T126A probably benign Het
Mrpl15 A T 1: 4,782,584 (GRCm38) V137D probably damaging Het
Muc16 G A 9: 18,646,069 (GRCm38) T2976I unknown Het
Mybpc2 A T 7: 44,512,541 (GRCm38) V495D probably damaging Het
Olfr597 A G 7: 103,321,005 (GRCm38) K198R Het
Olfr713 A G 7: 107,036,682 (GRCm38) N176D probably benign Het
Olfr772 A T 10: 129,174,846 (GRCm38) Y58* probably null Het
Pcnt G A 10: 76,382,174 (GRCm38) T2089I probably benign Het
Pdzd7 T C 19: 45,033,073 (GRCm38) D563G probably damaging Het
Phlpp1 T G 1: 106,350,603 (GRCm38) L915R probably damaging Het
Plekhh2 T A 17: 84,521,803 (GRCm38) I34N probably damaging Het
Pou6f2 T A 13: 18,378,498 (GRCm38) T84S Het
Ptprq A G 10: 107,586,695 (GRCm38) V1612A possibly damaging Het
Pvrig T G 5: 138,342,148 (GRCm38) probably benign Het
Rasl10b A T 11: 83,412,676 (GRCm38) I20F probably damaging Het
Rimbp3 T A 16: 17,209,006 (GRCm38) V98E probably damaging Het
Rims2 T C 15: 39,437,362 (GRCm38) I355T possibly damaging Het
Slc1a2 A G 2: 102,736,015 (GRCm38) H30R probably benign Het
Slc28a1 G A 7: 81,161,046 (GRCm38) V389M possibly damaging Het
Slc7a13 T C 4: 19,819,189 (GRCm38) S130P probably benign Het
Sp140 TTTTTTTT TTTTTTTTTTTTT 1: 85,644,574 (GRCm38) probably benign Het
Spag17 T A 3: 100,125,435 (GRCm38) H2320Q possibly damaging Het
Speer4a T C 5: 26,036,795 (GRCm38) E111G possibly damaging Het
Ss18l1 T C 2: 180,067,338 (GRCm38) Y397H unknown Het
Tbck T C 3: 132,838,057 (GRCm38) S890P probably damaging Het
Tcp11 T C 17: 28,080,230 (GRCm38) E17G probably benign Het
Tesk2 C T 4: 116,802,287 (GRCm38) R315C probably benign Het
Tln1 T C 4: 43,556,383 (GRCm38) N45S probably benign Het
Trim10 C T 17: 36,869,954 (GRCm38) P26S probably damaging Het
Vmac C A 17: 56,715,573 (GRCm38) G146C probably damaging Het
Vmn1r14 G A 6: 57,234,032 (GRCm38) M198I probably damaging Het
Vmn1r194 T C 13: 22,244,836 (GRCm38) Y208H possibly damaging Het
Vmn1r78 G A 7: 12,153,191 (GRCm38) C243Y probably damaging Het
Wasf3 C T 5: 146,466,862 (GRCm38) Q261* probably null Het
Ybx2 A G 11: 69,936,237 (GRCm38) K88R probably benign Het
Zfhx4 G A 3: 5,398,889 (GRCm38) R1394H probably damaging Het
Zfp871 T C 17: 32,774,927 (GRCm38) T425A probably benign Het
Zfy2 C T Y: 2,106,600 (GRCm38) S678N possibly damaging Het
Zswim4 T C 8: 84,223,316 (GRCm38) E650G possibly damaging Het
Other mutations in Atp13a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Atp13a5 APN 16 29,267,014 (GRCm38) nonsense probably null
IGL00583:Atp13a5 APN 16 29,275,453 (GRCm38) splice site probably benign
IGL01472:Atp13a5 APN 16 29,275,423 (GRCm38) missense probably damaging 1.00
IGL01473:Atp13a5 APN 16 29,316,724 (GRCm38) missense probably damaging 1.00
IGL02142:Atp13a5 APN 16 29,234,563 (GRCm38) missense probably benign 0.01
IGL02346:Atp13a5 APN 16 29,327,736 (GRCm38) nonsense probably null
IGL02454:Atp13a5 APN 16 29,232,808 (GRCm38) missense probably benign 0.35
IGL02557:Atp13a5 APN 16 29,248,182 (GRCm38) missense probably benign 0.24
IGL02651:Atp13a5 APN 16 29,334,091 (GRCm38) splice site probably benign
IGL02697:Atp13a5 APN 16 29,348,532 (GRCm38) missense probably benign
IGL02704:Atp13a5 APN 16 29,251,328 (GRCm38) nonsense probably null
IGL02993:Atp13a5 APN 16 29,293,504 (GRCm38) nonsense probably null
IGL03329:Atp13a5 APN 16 29,334,065 (GRCm38) nonsense probably null
IGL03346:Atp13a5 APN 16 29,314,604 (GRCm38) missense probably benign 0.15
IGL03493:Atp13a5 APN 16 29,297,524 (GRCm38) missense probably benign
PIT4810001:Atp13a5 UTSW 16 29,314,564 (GRCm38) missense probably damaging 1.00
R0356:Atp13a5 UTSW 16 29,348,755 (GRCm38) splice site probably benign
R0393:Atp13a5 UTSW 16 29,266,929 (GRCm38) splice site probably benign
R0456:Atp13a5 UTSW 16 29,232,740 (GRCm38) missense probably benign 0.03
R0526:Atp13a5 UTSW 16 29,348,740 (GRCm38) missense probably damaging 0.97
R0632:Atp13a5 UTSW 16 29,298,208 (GRCm38) missense probably benign 0.00
R0674:Atp13a5 UTSW 16 29,248,350 (GRCm38) splice site probably benign
R1417:Atp13a5 UTSW 16 29,298,235 (GRCm38) missense probably benign 0.00
R1470:Atp13a5 UTSW 16 29,349,015 (GRCm38) missense probably benign 0.19
R1470:Atp13a5 UTSW 16 29,349,015 (GRCm38) missense probably benign 0.19
R1515:Atp13a5 UTSW 16 29,333,974 (GRCm38) missense probably benign 0.23
R1659:Atp13a5 UTSW 16 29,293,433 (GRCm38) missense probably benign
R1723:Atp13a5 UTSW 16 29,232,799 (GRCm38) missense possibly damaging 0.88
R1779:Atp13a5 UTSW 16 29,314,660 (GRCm38) missense possibly damaging 0.67
R1794:Atp13a5 UTSW 16 29,321,709 (GRCm38) missense probably damaging 1.00
R1958:Atp13a5 UTSW 16 29,314,601 (GRCm38) missense probably damaging 1.00
R2218:Atp13a5 UTSW 16 29,321,646 (GRCm38) missense probably damaging 0.99
R2282:Atp13a5 UTSW 16 29,237,321 (GRCm38) missense probably damaging 1.00
R2356:Atp13a5 UTSW 16 29,281,069 (GRCm38) missense probably damaging 1.00
R2365:Atp13a5 UTSW 16 29,251,256 (GRCm38) missense probably benign 0.00
R2497:Atp13a5 UTSW 16 29,339,071 (GRCm38) nonsense probably null
R2517:Atp13a5 UTSW 16 29,297,397 (GRCm38) missense possibly damaging 0.79
R3552:Atp13a5 UTSW 16 29,310,766 (GRCm38) missense probably damaging 1.00
R3685:Atp13a5 UTSW 16 29,316,755 (GRCm38) missense probably damaging 1.00
R3957:Atp13a5 UTSW 16 29,298,194 (GRCm38) missense probably benign 0.01
R4433:Atp13a5 UTSW 16 29,282,024 (GRCm38) missense probably damaging 0.99
R4503:Atp13a5 UTSW 16 29,293,528 (GRCm38) missense probably benign 0.37
R4579:Atp13a5 UTSW 16 29,248,338 (GRCm38) critical splice acceptor site probably null
R4632:Atp13a5 UTSW 16 29,348,719 (GRCm38) missense probably damaging 1.00
R4718:Atp13a5 UTSW 16 29,248,170 (GRCm38) missense probably damaging 1.00
R4865:Atp13a5 UTSW 16 29,248,160 (GRCm38) missense probably damaging 0.98
R4899:Atp13a5 UTSW 16 29,378,500 (GRCm38) missense probably damaging 1.00
R4909:Atp13a5 UTSW 16 29,334,028 (GRCm38) missense possibly damaging 0.81
R5011:Atp13a5 UTSW 16 29,350,748 (GRCm38) missense probably damaging 1.00
R5013:Atp13a5 UTSW 16 29,350,748 (GRCm38) missense probably damaging 1.00
R5032:Atp13a5 UTSW 16 29,263,450 (GRCm38) missense probably damaging 1.00
R5226:Atp13a5 UTSW 16 29,248,279 (GRCm38) missense probably damaging 1.00
R5485:Atp13a5 UTSW 16 29,281,942 (GRCm38) critical splice donor site probably null
R5598:Atp13a5 UTSW 16 29,257,077 (GRCm38) intron probably benign
R5945:Atp13a5 UTSW 16 29,237,243 (GRCm38) missense probably benign 0.06
R5958:Atp13a5 UTSW 16 29,339,042 (GRCm38) missense probably damaging 1.00
R6194:Atp13a5 UTSW 16 29,308,239 (GRCm38) missense probably damaging 1.00
R6214:Atp13a5 UTSW 16 29,251,407 (GRCm38) missense probably damaging 1.00
R6273:Atp13a5 UTSW 16 29,348,737 (GRCm38) missense probably benign 0.10
R6376:Atp13a5 UTSW 16 29,237,252 (GRCm38) missense probably benign 0.00
R6431:Atp13a5 UTSW 16 29,251,402 (GRCm38) missense possibly damaging 0.93
R6495:Atp13a5 UTSW 16 29,321,622 (GRCm38) critical splice donor site probably null
R6619:Atp13a5 UTSW 16 29,349,015 (GRCm38) missense probably benign 0.05
R6853:Atp13a5 UTSW 16 29,321,662 (GRCm38) missense possibly damaging 0.94
R6932:Atp13a5 UTSW 16 29,281,951 (GRCm38) missense probably damaging 1.00
R7070:Atp13a5 UTSW 16 29,334,061 (GRCm38) missense possibly damaging 0.88
R7343:Atp13a5 UTSW 16 29,321,749 (GRCm38) missense probably benign 0.01
R7425:Atp13a5 UTSW 16 29,297,460 (GRCm38) nonsense probably null
R7570:Atp13a5 UTSW 16 29,266,963 (GRCm38) missense probably damaging 1.00
R7781:Atp13a5 UTSW 16 29,297,408 (GRCm38) missense probably benign 0.00
R7876:Atp13a5 UTSW 16 29,321,748 (GRCm38) missense possibly damaging 0.93
R8358:Atp13a5 UTSW 16 29,348,987 (GRCm38) missense probably damaging 1.00
R8427:Atp13a5 UTSW 16 29,349,002 (GRCm38) missense possibly damaging 0.65
R8435:Atp13a5 UTSW 16 29,280,929 (GRCm38) critical splice donor site probably null
R8946:Atp13a5 UTSW 16 29,327,783 (GRCm38) missense probably damaging 0.99
R8950:Atp13a5 UTSW 16 29,378,496 (GRCm38) missense probably damaging 1.00
R9222:Atp13a5 UTSW 16 29,314,654 (GRCm38) missense probably damaging 1.00
R9454:Atp13a5 UTSW 16 29,314,520 (GRCm38) missense possibly damaging 0.55
R9756:Atp13a5 UTSW 16 29,232,831 (GRCm38) frame shift probably null
R9769:Atp13a5 UTSW 16 29,348,695 (GRCm38) nonsense probably null
R9797:Atp13a5 UTSW 16 29,314,673 (GRCm38) missense probably benign 0.00
X0023:Atp13a5 UTSW 16 29,310,782 (GRCm38) missense probably damaging 1.00
Z1088:Atp13a5 UTSW 16 29,282,062 (GRCm38) missense probably benign 0.06
Z1177:Atp13a5 UTSW 16 29,280,969 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGCTAAGACCACTTTATTCAG -3'
(R):5'- AAAGCTGAAGTCACCTGGTAG -3'

Sequencing Primer
(F):5'- CAGTTATCATGCCAAAGAGATGC -3'
(R):5'- GCATAGACAGTTTTCATAATGCTGG -3'
Posted On 2021-07-15