Incidental Mutation 'R4899:Atp13a5'
ID 376042
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 042503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4899 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29197318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 13 (L13P)
Ref Sequence ENSEMBL: ENSMUSP00000114703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000152040]
AlphaFold Q3TYU2
Predicted Effect probably damaging
Transcript: ENSMUST00000075806
AA Change: L13P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: L13P

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: L13P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: L13P

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: L13P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: L13P

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 damaging
Transcript: ENSMUST00000152040
AA Change: L13P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114703
Gene: ENSMUSG00000048939
AA Change: L13P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 C G 3: 40,860,304 (GRCm39) probably null Het
Adra2c A T 5: 35,437,705 (GRCm39) Y159F probably damaging Het
Alkal2 T A 12: 30,934,972 (GRCm39) S64T probably benign Het
Apbb1ip T C 2: 22,713,361 (GRCm39) V72A unknown Het
Azin2 G A 4: 128,828,446 (GRCm39) P254S probably benign Het
Bmpr1b T C 3: 141,546,444 (GRCm39) R481G probably damaging Het
Cacna2d4 G A 6: 119,245,157 (GRCm39) W288* probably null Het
Cass4 A G 2: 172,269,789 (GRCm39) T626A probably benign Het
Cep112 T A 11: 108,497,110 (GRCm39) D683E probably damaging Het
Cfap300 A T 9: 8,022,494 (GRCm39) S243T possibly damaging Het
Chat G T 14: 32,170,934 (GRCm39) S188R possibly damaging Het
Cit A G 5: 116,001,087 (GRCm39) Y162C possibly damaging Het
Clca3a1 T A 3: 144,443,722 (GRCm39) Y676F probably damaging Het
Clec2h A G 6: 128,652,787 (GRCm39) N185D probably benign Het
Cnbd2 G T 2: 156,181,141 (GRCm39) V192F probably benign Het
Col6a3 C A 1: 90,730,149 (GRCm39) G1112V probably damaging Het
Csta2 A T 16: 36,077,731 (GRCm39) Y96F possibly damaging Het
Cyp3a25 A G 5: 145,914,481 (GRCm39) F483S possibly damaging Het
Dscam T C 16: 96,485,018 (GRCm39) E1103G probably benign Het
Dync2h1 G A 9: 7,131,921 (GRCm39) Q1629* probably null Het
Enpp6 A G 8: 47,440,118 (GRCm39) Y38C probably damaging Het
Epg5 T A 18: 78,028,272 (GRCm39) L1271Q probably damaging Het
Fam47e G A 5: 92,722,528 (GRCm39) V75I probably benign Het
Fat3 T C 9: 15,881,095 (GRCm39) D3259G probably damaging Het
Fbxw28 T C 9: 109,159,921 (GRCm39) D211G probably damaging Het
Flnc A G 6: 29,446,842 (GRCm39) N990D probably benign Het
Frat1 T G 19: 41,818,761 (GRCm39) L52R probably damaging Het
Ftmt C G 18: 52,464,658 (GRCm39) probably benign Het
H2-M1 C T 17: 36,982,112 (GRCm39) G163D probably benign Het
Hapln1 A G 13: 89,749,769 (GRCm39) K105E possibly damaging Het
Igkv17-127 G T 6: 67,838,381 (GRCm39) A31S probably benign Het
Il6st T C 13: 112,637,695 (GRCm39) L628P probably damaging Het
Kcnj6 A G 16: 94,633,472 (GRCm39) I213T probably damaging Het
Kidins220 T C 12: 25,063,442 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mertk C A 2: 128,625,845 (GRCm39) P660Q probably damaging Het
Mrtfa A G 15: 80,902,587 (GRCm39) Y241H probably damaging Het
Mtarc2 A T 1: 184,577,821 (GRCm39) I65N probably damaging Het
Napepld A G 5: 21,888,438 (GRCm39) Y4H probably benign Het
Ncam1 T A 9: 49,456,551 (GRCm39) probably null Het
Nuak2 A T 1: 132,252,724 (GRCm39) K93* probably null Het
Oat A T 7: 132,165,951 (GRCm39) D211E probably benign Het
Or1j19 A G 2: 36,676,810 (GRCm39) Q91R probably benign Het
Or2aj6 G A 16: 19,442,950 (GRCm39) A300V probably benign Het
Or4c109 A C 2: 88,818,454 (GRCm39) L31V probably null Het
Or51b17 A G 7: 103,542,672 (GRCm39) I90T possibly damaging Het
Or7a39 A T 10: 78,715,041 (GRCm39) S12C probably benign Het
Pde4dip C A 3: 97,616,874 (GRCm39) K1789N probably damaging Het
Piezo2 T C 18: 63,211,862 (GRCm39) I1322V possibly damaging Het
Pih1d1 A G 7: 44,803,951 (GRCm39) probably benign Het
Plekhd1 T C 12: 80,769,101 (GRCm39) S454P probably damaging Het
Polr2h G A 16: 20,539,303 (GRCm39) V89M probably damaging Het
Pptc7 G A 5: 122,422,780 (GRCm39) G17S possibly damaging Het
Pramel55 T C 5: 95,949,586 (GRCm39) V111A probably benign Het
Ptpra T C 2: 130,386,356 (GRCm39) V602A probably damaging Het
Rnf123 C T 9: 107,940,879 (GRCm39) R654H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Samsn1 A G 16: 75,675,991 (GRCm39) S135P probably damaging Het
Sgsm3 A G 15: 80,890,980 (GRCm39) N147S probably benign Het
Shoc1 T C 4: 59,062,640 (GRCm39) Y872C probably damaging Het
Slc22a29 T C 19: 8,138,933 (GRCm39) T510A probably benign Het
Smc4 T A 3: 68,939,144 (GRCm39) H978Q probably damaging Het
Sox7 G A 14: 64,185,927 (GRCm39) R321H probably damaging Het
Spred3 T C 7: 28,861,258 (GRCm39) D307G probably damaging Het
Syne2 T A 12: 75,900,875 (GRCm39) D11E probably benign Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Top2b A T 14: 16,387,313 (GRCm38) I134F probably damaging Het
Tspan1 T A 4: 116,020,563 (GRCm39) R206* probably null Het
Ttc3 A T 16: 94,230,314 (GRCm39) N837I probably damaging Het
Vmn1r36 T C 6: 66,693,549 (GRCm39) T72A possibly damaging Het
Vmn2r10 A G 5: 109,151,324 (GRCm39) S97P probably damaging Het
Zfp2 T A 11: 50,790,841 (GRCm39) I401F probably damaging Het
Zfp629 T C 7: 127,210,190 (GRCm39) T540A possibly damaging Het
Zfr G A 15: 12,166,231 (GRCm39) V834I 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
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'- CAACAACTTGCTCAGTCTCTG -3'
(R):5'- CAAGGTGCCAGCAGGTTTTG -3'

Sequencing Primer
(F):5'- GCTCAGTCTCTGCACACG -3'
(R):5'- CCAGCAGGTTTTGTAAGCAC -3'
Posted On 2016-03-17