Incidental Mutation 'R7425:Atp13a5'
ID 576017
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 045503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7425 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 29116278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 613 (Q613*)
Ref Sequence ENSEMBL: ENSMUSP00000075204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373]
AlphaFold Q3TYU2
Predicted Effect probably null
Transcript: ENSMUST00000075806
AA Change: Q613*
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: Q613*

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 null
Transcript: ENSMUST00000142681
AA Change: Q613*
SMART Domains Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: Q613*

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 null
Transcript: ENSMUST00000143373
AA Change: Q568*
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: Q568*

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,456 (GRCm39) E215G probably benign Het
Adam8 T A 7: 139,572,394 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,592,104 (GRCm39) S797G not run Het
Anxa3 T A 5: 96,982,680 (GRCm39) H259Q probably benign Het
Ap3d1 T A 10: 80,557,426 (GRCm39) Q302L probably damaging Het
Atg2a T C 19: 6,305,682 (GRCm39) V1294A probably benign Het
Bltp1 T A 3: 37,002,490 (GRCm39) H1478Q probably benign Het
Bltp1 A T 3: 37,037,543 (GRCm39) H2448L probably benign Het
Bmpr2 T G 1: 59,906,510 (GRCm39) N534K probably benign Het
C1qbp T C 11: 70,869,072 (GRCm39) probably null Het
C1qbp G T 11: 70,869,073 (GRCm39) probably null Het
C1ql3 T G 2: 13,015,229 (GRCm39) K144Q possibly damaging Het
C3 T C 17: 57,511,039 (GRCm39) M1656V possibly damaging Het
Cand1 A T 10: 119,052,148 (GRCm39) Y252N probably benign Het
Capn13 T C 17: 73,625,053 (GRCm39) I632M probably benign Het
Catsperb A G 12: 101,557,757 (GRCm39) E776G probably damaging Het
Ccnl1 A T 3: 65,856,179 (GRCm39) V242D probably damaging Het
Cd68 T C 11: 69,555,938 (GRCm39) D200G probably benign Het
Cela3a T C 4: 137,132,899 (GRCm39) N118D probably benign Het
Celsr2 A G 3: 108,309,773 (GRCm39) C1609R probably damaging Het
Cep85l G C 10: 53,177,666 (GRCm39) Q458E probably damaging Het
Cnga1 T G 5: 72,766,868 (GRCm39) E190D probably benign Het
Cntnap3 G A 13: 64,906,066 (GRCm39) R847C probably damaging Het
Cntrob G A 11: 69,205,560 (GRCm39) Q425* probably null Het
Commd9 G A 2: 101,730,245 (GRCm39) W128* probably null Het
Csnk1a1 C T 18: 61,718,330 (GRCm39) S352L unknown Het
Dact2 A G 17: 14,416,593 (GRCm39) S536P probably damaging Het
Ddx25 A G 9: 35,465,882 (GRCm39) I113T probably benign Het
Dscam T A 16: 96,430,598 (GRCm39) D1630V probably damaging Het
Fndc7 A C 3: 108,783,975 (GRCm39) F211L probably benign Het
Fryl T C 5: 73,262,091 (GRCm39) T559A probably damaging Het
Hpx C A 7: 105,241,068 (GRCm39) D402Y probably damaging Het
Ints13 A G 6: 146,476,198 (GRCm39) probably null Het
Ipcef1 T C 10: 6,906,066 (GRCm39) K76E probably damaging Het
Kcnb2 A C 1: 15,780,031 (GRCm39) Q301P probably damaging Het
Lamp3 C T 16: 19,518,362 (GRCm39) probably null Het
Lmod2 A T 6: 24,603,475 (GRCm39) H150L probably benign Het
Lrch3 T C 16: 32,826,077 (GRCm39) F718S probably damaging Het
Mms22l T C 4: 24,596,287 (GRCm39) V1082A probably benign Het
Nbas G T 12: 13,519,881 (GRCm39) V1598L probably damaging Het
Nrxn3 C T 12: 89,479,870 (GRCm39) R671* probably null Het
Or4c110 A T 2: 88,832,544 (GRCm39) F29L Het
Or4c58 A G 2: 89,674,789 (GRCm39) L176P probably damaging Het
Or52e8 A T 7: 104,624,268 (GRCm39) L312* probably null Het
Or5a3 A C 19: 12,400,204 (GRCm39) H177P probably damaging Het
Or6d14 A T 6: 116,533,398 (GRCm39) E4V possibly damaging Het
Pcdhga6 T A 18: 37,841,619 (GRCm39) N446K probably damaging Het
Phlpp1 A T 1: 106,320,303 (GRCm39) I1433F probably benign Het
Pla2g6 G A 15: 79,192,933 (GRCm39) R245C probably damaging Het
Rgl3 G A 9: 21,888,123 (GRCm39) Q464* probably null Het
Ryr2 T C 13: 11,720,530 (GRCm39) D2706G probably benign Het
Sbf2 G A 7: 109,974,984 (GRCm39) Q718* probably null Het
Sdad1 T C 5: 92,447,980 (GRCm39) T252A probably benign Het
Sgk1 T C 10: 21,870,009 (GRCm39) L16P probably damaging Het
Slc38a8 A G 8: 120,212,327 (GRCm39) S339P possibly damaging Het
Slc44a4 T C 17: 35,140,667 (GRCm39) S287P possibly damaging Het
Syne1 T C 10: 5,375,760 (GRCm39) I111V probably damaging Het
Synm A C 7: 67,383,194 (GRCm39) S1489R probably damaging Het
Tfb2m A G 1: 179,365,269 (GRCm39) F232L probably benign Het
Traf3 A T 12: 111,227,095 (GRCm39) K328* probably null Het
Trim38 C A 13: 23,972,365 (GRCm39) Q229K probably benign Het
Vcan A G 13: 89,837,951 (GRCm39) I2531T probably damaging Het
Virma T A 4: 11,546,211 (GRCm39) I1683N possibly damaging Het
Vmn1r18 A T 6: 57,367,551 (GRCm39) M1K probably null Het
Vmn2r87 T C 10: 130,314,761 (GRCm39) N275S probably damaging Het
Vps13a T A 19: 16,701,066 (GRCm39) H701L probably benign Het
Vrk3 T A 7: 44,420,348 (GRCm39) probably null Het
Zfp993 T A 4: 146,742,098 (GRCm39) S141T 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
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
R8427:Atp13a5 UTSW 16 29,167,820 (GRCm39) missense possibly damaging 0.65
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'- TCACACAAATCGACCTGTTCTC -3'
(R):5'- GGCACTTTGGAGGGTATGAAC -3'

Sequencing Primer
(F):5'- AAATCGACCTGTTCTCTTCACTGG -3'
(R):5'- GAACCCTTTGTCTAGTGTGCATGC -3'
Posted On 2019-10-07