Incidental Mutation 'R6431:Atp13a5'
ID 518563
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 044569-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6431 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29070154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 911 (K911E)
Ref Sequence ENSEMBL: ENSMUSP00000121208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373]
AlphaFold Q3TYU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000075806
AA Change: K956E

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: K956E

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 possibly damaging
Transcript: ENSMUST00000143373
AA Change: K911E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: K911E

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
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 93.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,099,607 (GRCm39) E719G probably damaging Het
Ankdd1a A G 9: 65,424,220 (GRCm39) M31T possibly damaging Het
Bpifb3 G T 2: 153,766,728 (GRCm39) L210F probably damaging Het
Cacna1c T C 6: 118,728,334 (GRCm39) Y211C probably damaging Het
Carm1 C A 9: 21,494,373 (GRCm39) P297T probably damaging Het
Cdh19 A T 1: 110,852,787 (GRCm39) Y383N probably benign Het
Cfap221 T C 1: 119,860,583 (GRCm39) H681R probably damaging Het
Cmya5 A C 13: 93,210,972 (GRCm39) S3274A possibly damaging Het
Cndp2 T A 18: 84,693,203 (GRCm39) K186* probably null Het
Ctdp1 G T 18: 80,494,470 (GRCm39) F310L probably damaging Het
Cyp2c55 A T 19: 39,019,853 (GRCm39) I264F probably damaging Het
Dhx40 A T 11: 86,664,649 (GRCm39) F628I probably damaging Het
Disc1 T A 8: 125,862,128 (GRCm39) M500K possibly damaging Het
Dnah5 A C 15: 28,349,970 (GRCm39) D2551A possibly damaging Het
Esyt1 A G 10: 128,352,543 (GRCm39) probably null Het
Fam78a T C 2: 31,972,843 (GRCm39) S26G probably damaging Het
Fn1 G A 1: 71,687,003 (GRCm39) probably null Het
Gbx1 T C 5: 24,709,916 (GRCm39) T310A probably benign Het
Ggh T A 4: 20,042,219 (GRCm39) C16S unknown Het
Gm11595 T A 11: 99,663,600 (GRCm39) T27S unknown Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Gsk3b A G 16: 38,014,311 (GRCm39) I256M probably damaging Het
Hmcn1 A T 1: 150,620,711 (GRCm39) S1166R probably benign Het
Hyou1 T C 9: 44,293,322 (GRCm39) probably null Het
Jup G T 11: 100,265,167 (GRCm39) R637S probably benign Het
Lama2 T A 10: 26,929,027 (GRCm39) I2087F possibly damaging Het
Lamc1 T G 1: 153,097,417 (GRCm39) K1542N probably benign Het
Lgals4 G T 7: 28,540,117 (GRCm39) Het
Lrrc8d A G 5: 105,959,626 (GRCm39) D12G probably damaging Het
Lrwd1 C T 5: 136,161,888 (GRCm39) V207M possibly damaging Het
Mbd1 T A 18: 74,406,762 (GRCm39) probably null Het
Msi1 T A 5: 115,588,984 (GRCm39) I333N probably damaging Het
Neo1 C T 9: 58,814,354 (GRCm39) V871I probably benign Het
Nr2c1 T C 10: 94,024,078 (GRCm39) C428R probably damaging Het
Ntm A G 9: 29,322,978 (GRCm39) L14P probably damaging Het
Nxpe4 A T 9: 48,304,145 (GRCm39) K77N probably damaging Het
Or1p1c A C 11: 74,160,235 (GRCm39) T7P possibly damaging Het
Or4c119 T A 2: 88,987,505 (GRCm39) S5C probably damaging Het
Or4f17-ps1 T A 2: 111,358,001 (GRCm39) M132K probably damaging Het
Or8g30 T C 9: 39,230,074 (GRCm39) T279A possibly damaging Het
Or8k18 G A 2: 86,085,702 (GRCm39) L112F probably benign Het
Pappa T A 4: 65,074,701 (GRCm39) D418E probably damaging Het
Pde4d G A 13: 109,738,320 (GRCm39) probably null Het
Pip A G 6: 41,828,391 (GRCm39) N75S possibly damaging Het
Plcl1 G C 1: 55,736,411 (GRCm39) R584P probably benign Het
Pnp A T 14: 51,188,471 (GRCm39) D237V probably damaging Het
Ppp1r12a T C 10: 108,098,281 (GRCm39) W857R probably damaging Het
Pramel13 T C 4: 144,119,653 (GRCm39) T305A possibly damaging Het
Ptchd3 A T 11: 121,727,229 (GRCm39) M368L probably benign Het
Pum1 T A 4: 130,501,816 (GRCm39) S868R probably damaging Het
R3hdml A T 2: 163,344,324 (GRCm39) S238C probably damaging Het
Robo2 G A 16: 73,843,697 (GRCm39) R173* probably null Het
Sall3 A G 18: 81,016,402 (GRCm39) S509P possibly damaging Het
Sap130 T G 18: 31,799,418 (GRCm39) H298Q possibly damaging Het
Selenov C A 7: 27,987,458 (GRCm39) G307C probably damaging Het
Setd2 T A 9: 110,379,453 (GRCm39) H1089Q possibly damaging Het
Setdb2 T C 14: 59,656,505 (GRCm39) N287D probably damaging Het
Sis C T 3: 72,865,507 (GRCm39) V182I probably benign Het
Slc32a1 A C 2: 158,453,457 (GRCm39) D99A probably benign Het
Slk A G 19: 47,609,327 (GRCm39) D760G probably damaging Het
Smg5 T A 3: 88,258,527 (GRCm39) D499E probably benign Het
Spata31e2 T A 1: 26,723,111 (GRCm39) N690Y probably benign Het
Stat3 T C 11: 100,780,400 (GRCm39) T720A possibly damaging Het
Trdn T G 10: 33,015,110 (GRCm39) N21K probably damaging Het
Trpm4 A T 7: 44,975,992 (GRCm39) V118E possibly damaging Het
Vgll3 A G 16: 65,612,640 (GRCm39) Q41R probably damaging Het
Vmn1r189 A G 13: 22,286,525 (GRCm39) V104A probably damaging Het
Vmn1r46 A T 6: 89,953,389 (GRCm39) R79S probably benign Het
Zscan4c T C 7: 10,740,856 (GRCm39) M125T probably benign 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
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
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'- TTGGCACTGCTTATATCACGC -3'
(R):5'- ACAGGACCTTTCAGCACATTATTC -3'

Sequencing Primer
(F):5'- CTGCTTATATCACGCTCAGAAAGG -3'
(R):5'- TTGGTAGAAATGAATATGCAGCTG -3'
Posted On 2018-05-24