Incidental Mutation 'R8427:Atp13a5'
ID 653554
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 067821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8427 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29167820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 113 (D113G)
Ref Sequence ENSEMBL: ENSMUSP00000075204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000152040]
AlphaFold Q3TYU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000075806
AA Change: D113G

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: D113G

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
AA Change: D113G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: D113G

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 benign
Transcript: ENSMUST00000143373
AA Change: D113G

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: D113G

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
Predicted Effect probably benign
Transcript: ENSMUST00000152040
AA Change: D113G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114703
Gene: ENSMUSG00000048939
AA Change: D113G

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 143 1.4e-25 PFAM
Cation_ATPase_N 149 209 8.78e0 SMART
low complexity region 213 227 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik G T 12: 72,950,060 (GRCm39) S271R possibly damaging Het
Adrb2 A G 18: 62,312,345 (GRCm39) V160A possibly damaging Het
B4galt7 T A 13: 55,757,138 (GRCm39) V312D possibly damaging Het
Bccip A G 7: 133,311,220 (GRCm39) D45G probably benign Het
Bcl2l2 A G 14: 55,122,860 (GRCm39) Y151C probably damaging Het
Ccdc146 T C 5: 21,604,790 (GRCm39) E16G unknown Het
Cdr2l C A 11: 115,284,865 (GRCm39) D400E probably damaging Het
Celsr2 A C 3: 108,299,949 (GRCm39) *2920E probably null Het
Cib1 A G 7: 79,877,749 (GRCm39) F183L probably damaging Het
Cnot1 A G 8: 96,460,952 (GRCm39) Y1716H probably benign Het
Copb1 A G 7: 113,825,989 (GRCm39) V665A probably benign Het
Crmp1 C T 5: 37,448,539 (GRCm39) T683I probably damaging Het
Cubn G C 2: 13,433,567 (GRCm39) F1114L probably benign Het
Dab2 A T 15: 6,458,840 (GRCm39) R251* probably null Het
Ddx28 A G 8: 106,736,912 (GRCm39) V382A probably benign Het
Eml1 C A 12: 108,496,580 (GRCm39) T612K probably damaging Het
Hoxb3 CGGCGGTGGCGG CGGCGGTGGCGGTGGCGG 11: 96,236,415 (GRCm39) probably benign Het
Hoxb3 TGGCGG TGGCGGAGGCGG 11: 96,236,421 (GRCm39) probably benign Het
Iapp T A 6: 142,244,612 (GRCm39) I13N probably damaging Het
Ifit1bl1 A T 19: 34,576,666 (GRCm39) probably null Het
Itgb4 T A 11: 115,882,544 (GRCm39) probably null Het
Kcnh3 T C 15: 99,124,934 (GRCm39) V128A probably benign Het
Kmt2a A G 9: 44,756,720 (GRCm39) F1176L probably damaging Het
Lifr A G 15: 7,220,462 (GRCm39) T1031A probably benign Het
Lrp2 T C 2: 69,281,641 (GRCm39) D3910G probably damaging Het
Man1a2 A T 3: 100,592,001 (GRCm39) S60T probably benign Het
Mdh1 C T 11: 21,514,138 (GRCm39) R93K probably benign Het
Mical1 G T 10: 41,354,591 (GRCm39) K142N probably damaging Het
Nf2 T A 11: 4,741,118 (GRCm39) E365D probably benign Het
Nfrkb A G 9: 31,330,323 (GRCm39) M1192V probably benign Het
Npas4 A C 19: 5,036,108 (GRCm39) D685E probably benign Het
Or11h4b T A 14: 50,918,606 (GRCm39) I162F probably damaging Het
Or12k5 G T 2: 36,894,794 (GRCm39) Y277* probably null Het
Or4f4-ps1 A G 2: 111,330,310 (GRCm39) T238A probably damaging Het
Ovch2 G A 7: 107,393,207 (GRCm39) T222I probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pld1 A T 3: 28,142,795 (GRCm39) I668F probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppa1 A G 10: 61,496,704 (GRCm39) D64G possibly damaging Het
Rnf133 T C 6: 23,649,405 (GRCm39) I175V probably benign Het
Rpp30 A G 19: 36,071,812 (GRCm39) I127V probably benign Het
Scube2 T A 7: 109,399,797 (GRCm39) H913L probably damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Skida1 A T 2: 18,051,402 (GRCm39) N496K unknown Het
Slc29a2 A T 19: 5,080,448 (GRCm39) I397F probably benign Het
Slc38a2 G T 15: 96,590,294 (GRCm39) R316S probably damaging Het
Slc40a1 A C 1: 45,951,498 (GRCm39) Y220D probably damaging Het
Strc T G 2: 121,208,012 (GRCm39) H453P probably damaging Het
Tmprss3 T A 17: 31,407,358 (GRCm39) I312F probably damaging Het
Tnn G A 1: 159,958,256 (GRCm39) T529I probably damaging Het
Tnr A T 1: 159,713,801 (GRCm39) D743V possibly damaging Het
Trim42 A T 9: 97,245,174 (GRCm39) F542Y probably benign Het
Trpm2 A T 10: 77,747,236 (GRCm39) Y1421N possibly damaging Het
Ttn T C 2: 76,576,901 (GRCm39) E24664G probably damaging Het
Ube2q2 T C 9: 55,092,250 (GRCm39) probably null Het
Unc79 A T 12: 103,045,297 (GRCm39) R824S probably benign Het
V1ra8 A G 6: 90,180,559 (GRCm39) D254G probably damaging Het
Vmn1r173 A T 7: 23,401,959 (GRCm39) I65F probably damaging Het
Vmn2r16 T A 5: 109,488,138 (GRCm39) M337K probably benign Het
Wfs1 C A 5: 37,125,431 (GRCm39) G487C probably damaging Het
Xdh T C 17: 74,242,926 (GRCm39) Y127C probably damaging Het
Zfp229 T C 17: 21,965,815 (GRCm39) S682P probably damaging Het
Zscan4-ps1 A T 7: 10,802,447 (GRCm39) D117E possibly damaging Het
Other mutations in Atp13a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Atp13a5 APN 16 29,085,766 (GRCm39) nonsense probably null
IGL00583:Atp13a5 APN 16 29,094,205 (GRCm39) splice site probably benign
IGL01472:Atp13a5 APN 16 29,094,175 (GRCm39) missense probably damaging 1.00
IGL01473:Atp13a5 APN 16 29,135,542 (GRCm39) missense probably damaging 1.00
IGL02142:Atp13a5 APN 16 29,053,315 (GRCm39) missense probably benign 0.01
IGL02346:Atp13a5 APN 16 29,146,554 (GRCm39) nonsense probably null
IGL02454:Atp13a5 APN 16 29,051,560 (GRCm39) missense probably benign 0.35
IGL02557:Atp13a5 APN 16 29,066,934 (GRCm39) missense probably benign 0.24
IGL02651:Atp13a5 APN 16 29,152,909 (GRCm39) splice site probably benign
IGL02697:Atp13a5 APN 16 29,167,350 (GRCm39) missense probably benign
IGL02704:Atp13a5 APN 16 29,070,080 (GRCm39) nonsense probably null
IGL02993:Atp13a5 APN 16 29,112,322 (GRCm39) nonsense probably null
IGL03329:Atp13a5 APN 16 29,152,883 (GRCm39) nonsense probably null
IGL03346:Atp13a5 APN 16 29,133,422 (GRCm39) missense probably benign 0.15
IGL03493:Atp13a5 APN 16 29,116,342 (GRCm39) missense probably benign
PIT4810001:Atp13a5 UTSW 16 29,133,382 (GRCm39) missense probably damaging 1.00
R0356:Atp13a5 UTSW 16 29,167,573 (GRCm39) splice site probably benign
R0393:Atp13a5 UTSW 16 29,085,681 (GRCm39) splice site probably benign
R0456:Atp13a5 UTSW 16 29,051,492 (GRCm39) missense probably benign 0.03
R0526:Atp13a5 UTSW 16 29,167,558 (GRCm39) missense probably damaging 0.97
R0632:Atp13a5 UTSW 16 29,117,026 (GRCm39) missense probably benign 0.00
R0674:Atp13a5 UTSW 16 29,067,102 (GRCm39) splice site probably benign
R1417:Atp13a5 UTSW 16 29,117,053 (GRCm39) missense probably benign 0.00
R1470:Atp13a5 UTSW 16 29,167,833 (GRCm39) missense probably benign 0.19
R1470:Atp13a5 UTSW 16 29,167,833 (GRCm39) missense probably benign 0.19
R1515:Atp13a5 UTSW 16 29,152,792 (GRCm39) missense probably benign 0.23
R1659:Atp13a5 UTSW 16 29,112,251 (GRCm39) missense probably benign
R1723:Atp13a5 UTSW 16 29,051,551 (GRCm39) missense possibly damaging 0.88
R1779:Atp13a5 UTSW 16 29,133,478 (GRCm39) missense possibly damaging 0.67
R1794:Atp13a5 UTSW 16 29,140,527 (GRCm39) missense probably damaging 1.00
R1958:Atp13a5 UTSW 16 29,133,419 (GRCm39) missense probably damaging 1.00
R2218:Atp13a5 UTSW 16 29,140,464 (GRCm39) missense probably damaging 0.99
R2282:Atp13a5 UTSW 16 29,056,073 (GRCm39) missense probably damaging 1.00
R2356:Atp13a5 UTSW 16 29,099,887 (GRCm39) missense probably damaging 1.00
R2365:Atp13a5 UTSW 16 29,070,008 (GRCm39) missense probably benign 0.00
R2497:Atp13a5 UTSW 16 29,157,889 (GRCm39) nonsense probably null
R2517:Atp13a5 UTSW 16 29,116,215 (GRCm39) missense possibly damaging 0.79
R3552:Atp13a5 UTSW 16 29,129,584 (GRCm39) missense probably damaging 1.00
R3685:Atp13a5 UTSW 16 29,135,573 (GRCm39) missense probably damaging 1.00
R3957:Atp13a5 UTSW 16 29,117,012 (GRCm39) missense probably benign 0.01
R4433:Atp13a5 UTSW 16 29,100,842 (GRCm39) missense probably damaging 0.99
R4503:Atp13a5 UTSW 16 29,112,346 (GRCm39) missense probably benign 0.37
R4579:Atp13a5 UTSW 16 29,067,090 (GRCm39) critical splice acceptor site probably null
R4632:Atp13a5 UTSW 16 29,167,537 (GRCm39) missense probably damaging 1.00
R4718:Atp13a5 UTSW 16 29,066,922 (GRCm39) missense probably damaging 1.00
R4865:Atp13a5 UTSW 16 29,066,912 (GRCm39) missense probably damaging 0.98
R4899:Atp13a5 UTSW 16 29,197,318 (GRCm39) missense probably damaging 1.00
R4909:Atp13a5 UTSW 16 29,152,846 (GRCm39) missense possibly damaging 0.81
R5011:Atp13a5 UTSW 16 29,169,566 (GRCm39) missense probably damaging 1.00
R5013:Atp13a5 UTSW 16 29,169,566 (GRCm39) missense probably damaging 1.00
R5032:Atp13a5 UTSW 16 29,082,202 (GRCm39) missense probably damaging 1.00
R5226:Atp13a5 UTSW 16 29,067,031 (GRCm39) missense probably damaging 1.00
R5485:Atp13a5 UTSW 16 29,100,760 (GRCm39) critical splice donor site probably null
R5598:Atp13a5 UTSW 16 29,075,829 (GRCm39) intron probably benign
R5945:Atp13a5 UTSW 16 29,055,995 (GRCm39) missense probably benign 0.06
R5958:Atp13a5 UTSW 16 29,157,860 (GRCm39) missense probably damaging 1.00
R6194:Atp13a5 UTSW 16 29,127,057 (GRCm39) missense probably damaging 1.00
R6214:Atp13a5 UTSW 16 29,070,159 (GRCm39) missense probably damaging 1.00
R6273:Atp13a5 UTSW 16 29,167,555 (GRCm39) missense probably benign 0.10
R6376:Atp13a5 UTSW 16 29,056,004 (GRCm39) missense probably benign 0.00
R6431:Atp13a5 UTSW 16 29,070,154 (GRCm39) missense possibly damaging 0.93
R6495:Atp13a5 UTSW 16 29,140,440 (GRCm39) critical splice donor site probably null
R6619:Atp13a5 UTSW 16 29,167,833 (GRCm39) missense probably benign 0.05
R6853:Atp13a5 UTSW 16 29,140,480 (GRCm39) missense possibly damaging 0.94
R6932:Atp13a5 UTSW 16 29,100,769 (GRCm39) missense probably damaging 1.00
R7070:Atp13a5 UTSW 16 29,152,879 (GRCm39) missense possibly damaging 0.88
R7343:Atp13a5 UTSW 16 29,140,567 (GRCm39) missense probably benign 0.01
R7425:Atp13a5 UTSW 16 29,116,278 (GRCm39) nonsense probably null
R7570:Atp13a5 UTSW 16 29,085,715 (GRCm39) missense probably damaging 1.00
R7781:Atp13a5 UTSW 16 29,116,226 (GRCm39) missense probably benign 0.00
R7876:Atp13a5 UTSW 16 29,140,566 (GRCm39) missense possibly damaging 0.93
R8358:Atp13a5 UTSW 16 29,167,805 (GRCm39) missense probably damaging 1.00
R8435:Atp13a5 UTSW 16 29,099,747 (GRCm39) critical splice donor site probably null
R8830:Atp13a5 UTSW 16 29,066,928 (GRCm39) missense probably damaging 1.00
R8946:Atp13a5 UTSW 16 29,146,601 (GRCm39) missense probably damaging 0.99
R8950:Atp13a5 UTSW 16 29,197,314 (GRCm39) missense probably damaging 1.00
R9222:Atp13a5 UTSW 16 29,133,472 (GRCm39) missense probably damaging 1.00
R9454:Atp13a5 UTSW 16 29,133,338 (GRCm39) missense possibly damaging 0.55
R9756:Atp13a5 UTSW 16 29,051,583 (GRCm39) frame shift probably null
R9769:Atp13a5 UTSW 16 29,167,513 (GRCm39) nonsense probably null
R9797:Atp13a5 UTSW 16 29,133,491 (GRCm39) missense probably benign 0.00
X0023:Atp13a5 UTSW 16 29,129,600 (GRCm39) missense probably damaging 1.00
Z1088:Atp13a5 UTSW 16 29,100,880 (GRCm39) missense probably benign 0.06
Z1177:Atp13a5 UTSW 16 29,099,787 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTGTAGGTTCCCATGTGG -3'
(R):5'- CTGTCTGCATAGGAGTATTCTAGAG -3'

Sequencing Primer
(F):5'- GGTATTACAACCCGGTATCATTCCAG -3'
(R):5'- GTGGTGCACACTTATGATCCCAAG -3'
Posted On 2020-10-20