Incidental Mutation 'R6932:Atp13a5'
ID 540129
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 045047-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6932 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29100769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 673 (M673I)
Ref Sequence ENSEMBL: ENSMUSP00000121208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373]
AlphaFold Q3TYU2
Predicted Effect probably damaging
Transcript: ENSMUST00000075806
AA Change: M718I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: M718I

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 damaging
Transcript: ENSMUST00000142681
AA Change: M718I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: M718I

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: M673I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: M673I

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: 99.2%
  • 20x: 97.2%
Validation Efficiency 98% (80/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,331 (GRCm39) F198I probably damaging Het
Acy1 A G 9: 106,314,826 (GRCm39) probably null Het
Adk A G 14: 21,126,376 (GRCm39) M1V probably null Het
Ahi1 A G 10: 20,839,590 (GRCm39) D167G probably benign Het
Ankrd16 T C 2: 11,791,054 (GRCm39) V290A possibly damaging Het
Arhgef5 T A 6: 43,251,351 (GRCm39) S701T possibly damaging Het
BC005624 T C 2: 30,868,940 (GRCm39) D78G possibly damaging Het
Bcat2 C T 7: 45,238,745 (GRCm39) H347Y probably damaging Het
Bpifb4 A G 2: 153,784,547 (GRCm39) Y85C possibly damaging Het
Cdc42 T A 4: 137,049,932 (GRCm39) probably null Het
Cep170 G A 1: 176,589,003 (GRCm39) L541F possibly damaging Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Cgrrf1 T A 14: 47,091,179 (GRCm39) N234K probably benign Het
Ctrc C T 4: 141,568,879 (GRCm39) C108Y probably damaging Het
Cyp2u1 C T 3: 131,091,945 (GRCm39) V192M possibly damaging Het
Dhx38 A T 8: 110,279,307 (GRCm39) L1013Q probably damaging Het
Dnah1 T A 14: 31,009,733 (GRCm39) N1945I probably damaging Het
Dnah10 C G 5: 124,898,514 (GRCm39) N3765K possibly damaging Het
Dnah17 C A 11: 117,950,905 (GRCm39) R2906L possibly damaging Het
Dnajc10 C T 2: 80,161,680 (GRCm39) T306I probably benign Het
Efemp2 T A 19: 5,530,273 (GRCm39) C287S probably damaging Het
Efna1 T C 3: 89,180,091 (GRCm39) R143G probably benign Het
Emilin1 A C 5: 31,074,421 (GRCm39) N221H probably damaging Het
Epg5 A G 18: 77,991,824 (GRCm39) T174A probably benign Het
Fam184b T A 5: 45,690,243 (GRCm39) probably null Het
Fchsd2 T A 7: 100,926,621 (GRCm39) C570* probably null Het
Gm4787 A T 12: 81,425,974 (GRCm39) D61E probably benign Het
Gm7356 C T 17: 14,221,925 (GRCm39) G35R probably damaging Het
Gm8220 A G 14: 44,525,645 (GRCm39) T20A probably damaging Het
Hivep2 C T 10: 14,004,245 (GRCm39) T281M probably damaging Het
Ighv2-9-1 A G 12: 113,733,692 (GRCm39) V43A probably damaging Het
Klhl33 A T 14: 51,129,373 (GRCm39) C619S probably benign Het
Kmt2a A T 9: 44,740,558 (GRCm39) probably benign Het
Lax1 A G 1: 133,607,896 (GRCm39) C282R probably benign Het
Lrrd1 A G 5: 3,901,395 (GRCm39) K567E probably benign Het
Luzp1 C T 4: 136,268,124 (GRCm39) R116* probably null Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Macrod2 A T 2: 140,261,833 (GRCm39) N38I probably damaging Het
Map3k14 A T 11: 103,132,958 (GRCm39) I80N probably damaging Het
Mcm9 A G 10: 53,496,299 (GRCm39) S368P probably benign Het
Mfge8 T C 7: 78,793,049 (GRCm39) D139G probably benign Het
Mmp19 A T 10: 128,627,523 (GRCm39) I54F probably benign Het
Myo15a G T 11: 60,390,320 (GRCm39) W2114L probably damaging Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Myoc A G 1: 162,466,915 (GRCm39) D28G probably damaging Het
Myrf G T 19: 10,196,924 (GRCm39) N487K probably damaging Het
Omd T A 13: 49,743,710 (GRCm39) F253L probably damaging Het
Or2ag19 G T 7: 106,444,009 (GRCm39) G64* probably null Het
Or5t5 C G 2: 86,616,499 (GRCm39) L142V probably damaging Het
Or6n1 G A 1: 173,917,316 (GRCm39) A237T probably damaging Het
Papss1 T G 3: 131,305,732 (GRCm39) I238S probably damaging Het
Pkhd1 A T 1: 20,632,675 (GRCm39) F580Y probably benign Het
Polk T A 13: 96,653,189 (GRCm39) K70N probably damaging Het
Ppig T A 2: 69,562,755 (GRCm39) D31E probably benign Het
Ppp6r1 G T 7: 4,636,291 (GRCm39) S766R possibly damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Reln T C 5: 22,190,855 (GRCm39) I1511V probably benign Het
Rnh1 T C 7: 140,743,096 (GRCm39) N268S probably damaging Het
Rpia A G 6: 70,750,424 (GRCm39) V236A probably benign Het
Rpl10a G T 17: 28,548,424 (GRCm39) V80L probably benign Het
Sap130 T G 18: 31,799,407 (GRCm39) S295A possibly damaging Het
Sgms1 C T 19: 32,120,193 (GRCm39) V238I probably benign Het
Sh3tc1 A G 5: 35,864,778 (GRCm39) S470P probably benign Het
Slc25a32 A G 15: 38,960,984 (GRCm39) V233A possibly damaging Het
Slc2a2 T C 3: 28,771,668 (GRCm39) S158P probably benign Het
Slc6a2 A G 8: 93,722,653 (GRCm39) Y550C probably benign Het
Slc7a9 C A 7: 35,151,936 (GRCm39) T77K probably benign Het
Snd1 A T 6: 28,626,100 (GRCm39) D385V probably benign Het
Ssh3 A T 19: 4,314,448 (GRCm39) F369I probably damaging Het
Syk A G 13: 52,766,495 (GRCm39) probably null Het
Tbc1d16 A G 11: 119,099,742 (GRCm39) S211P probably damaging Het
Ttc3 A G 16: 94,244,312 (GRCm39) T1439A probably benign Het
Usp18 A G 6: 121,229,473 (GRCm39) M31V probably benign Het
Vav1 G T 17: 57,609,330 (GRCm39) E415D possibly damaging Het
Vps13a A T 19: 16,655,439 (GRCm39) V1863D probably benign Het
Xdh T A 17: 74,229,557 (GRCm39) I299F probably damaging Het
Zc3h14 A G 12: 98,737,336 (GRCm39) probably benign Het
Zfp345 G A 2: 150,315,331 (GRCm39) H69Y probably damaging Het
Zfp652 G T 11: 95,654,667 (GRCm39) V357L probably benign Het
Zfp712 A T 13: 67,188,891 (GRCm39) Y545* probably null Het
Zgrf1 T C 3: 127,353,281 (GRCm39) probably null 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
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
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'- AAAGAGTTCTCCTTGCATGATGC -3'
(R):5'- TCAATCAGCCACGGACATGC -3'

Sequencing Primer
(F):5'- CCTTGCATGATGCTGGATAGGAC -3'
(R):5'- GGACATGCCACAGTGCTAC -3'
Posted On 2018-11-06