Incidental Mutation 'R0456:Atp13a5'
ID 40047
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 038656-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0456 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29051492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1127 (N1127D)
Ref Sequence ENSEMBL: ENSMUSP00000121208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000089824] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000162747]
AlphaFold Q3TYU2
Predicted Effect probably benign
Transcript: ENSMUST00000075806
AA Change: N1172D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: N1172D

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: ENSMUST00000089824
SMART Domains Protein: ENSMUSP00000087257
Gene: ENSMUSG00000022525

DomainStartEndE-ValueType
Pfam:LRAT 8 132 6.1e-44 PFAM
transmembrane domain 140 159 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 benign
Transcript: ENSMUST00000143373
AA Change: N1127D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: N1127D

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 noncoding transcript
Transcript: ENSMUST00000160794
Predicted Effect probably benign
Transcript: ENSMUST00000162747
SMART Domains Protein: ENSMUSP00000123809
Gene: ENSMUSG00000022525

DomainStartEndE-ValueType
Pfam:LRAT 13 132 7.5e-41 PFAM
transmembrane domain 140 159 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 G A 18: 12,429,036 (GRCm39) P11L probably damaging Het
Antxr1 A C 6: 87,194,257 (GRCm39) V347G probably damaging Het
Bivm T A 1: 44,165,969 (GRCm39) W140R probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ceacam5 T C 7: 17,494,776 (GRCm39) V928A possibly damaging Het
Chia1 T C 3: 106,035,795 (GRCm39) Y152H probably damaging Het
Chsy3 A T 18: 59,309,550 (GRCm39) I268F probably damaging Het
CK137956 A T 4: 127,839,100 (GRCm39) N439K probably damaging Het
Csf3r C A 4: 125,929,654 (GRCm39) N392K probably damaging Het
Cyp1b1 T C 17: 80,017,704 (GRCm39) I484V probably benign Het
Dsc1 T C 18: 20,232,169 (GRCm39) K280E probably damaging Het
Eefsec A G 6: 88,274,870 (GRCm39) Y365H probably benign Het
Epb41l4b C T 4: 57,142,843 (GRCm39) probably null Het
Erap1 G A 13: 74,812,339 (GRCm39) V385I probably benign Het
Fat1 A T 8: 45,482,571 (GRCm39) I3077F probably damaging Het
Fras1 T G 5: 96,862,202 (GRCm39) probably null Het
Fras1 G T 5: 96,702,647 (GRCm39) G230C probably damaging Het
Gsg1l A G 7: 125,522,682 (GRCm39) M182T possibly damaging Het
Gzmg A G 14: 56,395,779 (GRCm39) V60A probably damaging Het
H4c6 T C 13: 23,735,561 (GRCm39) D86G probably damaging Het
Hapln4 A T 8: 70,537,645 (GRCm39) Y113F probably benign Het
Ikzf4 T A 10: 128,471,677 (GRCm39) T274S probably damaging Het
Kansl1l T A 1: 66,774,885 (GRCm39) H302L probably damaging Het
Klhl41 T C 2: 69,500,893 (GRCm39) V118A probably damaging Het
Kpna1 T C 16: 35,823,270 (GRCm39) S41P possibly damaging Het
Krt23 A G 11: 99,377,604 (GRCm39) V134A probably benign Het
Lamb1 G A 12: 31,354,729 (GRCm39) C992Y probably damaging Het
Lrif1 C T 3: 106,639,094 (GRCm39) P35S probably benign Het
Lrrc4 A G 6: 28,831,103 (GRCm39) S171P probably damaging Het
Lvrn G A 18: 46,997,883 (GRCm39) probably null Het
Matr3 T A 18: 35,705,917 (GRCm39) F281I probably damaging Het
Meak7 A T 8: 120,495,162 (GRCm39) F199I probably damaging Het
Nxn G A 11: 76,153,963 (GRCm39) Q291* probably null Het
Or5b113 A G 19: 13,342,102 (GRCm39) T37A probably damaging Het
Pdp2 G T 8: 105,320,421 (GRCm39) R90L probably damaging Het
Ppp1r3c C A 19: 36,711,291 (GRCm39) E160* probably null Het
Ppp2r5c T G 12: 110,489,013 (GRCm39) S118R probably damaging Het
Ptpn23 G T 9: 110,218,861 (GRCm39) probably null Het
Ptpro G T 6: 137,391,228 (GRCm39) V783L probably benign Het
Rab40c A G 17: 26,103,631 (GRCm39) V144A possibly damaging Het
Rasal2 T C 1: 156,977,413 (GRCm39) N1087S probably damaging Het
Rfc3 T A 5: 151,570,988 (GRCm39) S103C possibly damaging Het
Rgl2 A G 17: 34,155,823 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rit2 A T 18: 31,108,504 (GRCm39) F160L probably benign Het
Rnh1 A G 7: 140,742,461 (GRCm39) S366P possibly damaging Het
Sdk2 T C 11: 113,682,292 (GRCm39) Y2029C possibly damaging Het
Smpd3 T A 8: 106,986,288 (GRCm39) I505F probably benign Het
Sorcs3 A T 19: 48,642,483 (GRCm39) S379C possibly damaging Het
Sult1e1 A G 5: 87,726,493 (GRCm39) L207P possibly damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Syne1 T C 10: 5,292,252 (GRCm39) T1339A probably benign Het
Tas2r117 A G 6: 132,780,354 (GRCm39) N164S probably benign Het
Tigd3 A G 19: 5,942,821 (GRCm39) L103P probably damaging Het
Tmem132b T C 5: 125,864,788 (GRCm39) S965P probably damaging Het
Tmem82 T C 4: 141,344,701 (GRCm39) T81A probably benign Het
Tmem8b A G 4: 43,685,618 (GRCm39) T156A probably benign Het
Tnfrsf21 A G 17: 43,348,982 (GRCm39) E198G probably benign Het
Tnpo2 A G 8: 85,781,045 (GRCm39) N767S probably damaging Het
Trf T C 9: 103,104,102 (GRCm39) Y87C probably damaging Het
Tst A G 15: 78,289,780 (GRCm39) V85A probably damaging Het
Usp37 A T 1: 74,507,507 (GRCm39) N503K probably damaging Het
Utp20 C T 10: 88,590,435 (GRCm39) M2346I possibly damaging Het
Vax2 A G 6: 83,688,388 (GRCm39) D37G probably benign Het
Vmn1r77 T A 7: 11,775,665 (GRCm39) L79* probably null Het
Zbtb3 A T 19: 8,780,564 (GRCm39) D59V probably damaging Het
Zdhhc13 T C 7: 48,458,602 (GRCm39) F182S probably benign Het
Zfp426 A G 9: 20,381,593 (GRCm39) F465L probably damaging Het
Zfp526 A G 7: 24,925,637 (GRCm39) E632G probably 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
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
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'- AGAGAGAAGGGTTTGCAGTTTCCAC -3'
(R):5'- GCTAGATGGCTGGAAAGGGCTTAC -3'

Sequencing Primer
(F):5'- CTTCCCACAAGGTTTAGTTTGG -3'
(R):5'- CTGGAAAGGGCTTACTTGCG -3'
Posted On 2013-05-23