Incidental Mutation 'R8946:Atp13a5'
ID 681328
Institutional Source Beutler Lab
Gene Symbol Atp13a5
Ensembl Gene ENSMUSG00000048939
Gene Name ATPase type 13A5
Synonyms C630015F21Rik
MMRRC Submission 068784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8946 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 29050603-29197550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29146601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 231 (L231P)
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: L276P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: L276P

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: L276P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: L276P

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: L231P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: L231P

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: 99.4%
Validation Efficiency 97% (65/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A G 10: 4,304,368 (GRCm39) S393G probably damaging Het
Ankrd28 A G 14: 31,430,083 (GRCm39) F862L probably damaging Het
Ankrd31 T C 13: 97,046,037 (GRCm39) *1546Q probably null Het
Ankrd33b T C 15: 31,297,894 (GRCm39) T288A probably benign Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
C1qtnf12 T C 4: 156,050,882 (GRCm39) F284L probably damaging Het
Caprin1 A T 2: 103,608,378 (GRCm39) H250Q probably damaging Het
Cd2bp2 A C 7: 126,793,923 (GRCm39) I122S probably damaging Het
Cd300lf T A 11: 115,024,738 (GRCm39) probably benign Het
Ceacam14 A G 7: 17,547,999 (GRCm39) I30V probably benign Het
Chchd1 T A 14: 20,753,385 (GRCm39) *56R probably null Het
Ckap5 A G 2: 91,409,861 (GRCm39) T948A probably benign Het
Clec12a A T 6: 129,340,949 (GRCm39) N243I possibly damaging Het
Col11a2 A G 17: 34,270,757 (GRCm39) M462V probably benign Het
Col6a5 C T 9: 105,822,833 (GRCm39) E175K unknown Het
Csnka2ip T C 16: 64,300,667 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,033 (GRCm39) T146N possibly damaging Het
Dennd5b T C 6: 148,943,485 (GRCm39) probably benign Het
Fanci A G 7: 79,045,726 (GRCm39) T23A probably benign Het
Fmnl1 T C 11: 103,071,741 (GRCm39) Y83H probably damaging Het
Galnt13 C A 2: 54,770,075 (GRCm39) T289N probably benign Het
Gcn1 A G 5: 115,733,404 (GRCm39) D1074G probably benign Het
Gm10801 ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC ATTTTCAGTTTTC 2: 98,492,669 (GRCm39) probably null Het
Gnl1 T C 17: 36,294,479 (GRCm39) I366T probably benign Het
Gtf2ird2 A T 5: 134,245,161 (GRCm39) Y473F probably damaging Het
Ikzf1 T A 11: 11,719,485 (GRCm39) D397E possibly damaging Het
Ints15 C G 5: 143,300,795 (GRCm39) E19Q probably benign Het
Intu C T 3: 40,637,789 (GRCm39) A425V possibly damaging Het
Irag1 A T 7: 110,477,347 (GRCm39) probably null Het
Jakmip1 G A 5: 37,343,084 (GRCm39) probably null Het
Lif C A 11: 4,219,225 (GRCm39) P168Q possibly damaging Het
Myh11 A C 16: 14,048,580 (GRCm39) S576A probably benign Het
Neb A G 2: 52,041,425 (GRCm39) V6559A probably damaging Het
Nphs1 A G 7: 30,162,625 (GRCm39) N368S probably damaging Het
Npsr1 G A 9: 24,224,525 (GRCm39) V148I probably benign Het
Or51f1 C A 7: 102,505,725 (GRCm39) G255* probably null Het
Or52ab4 T C 7: 102,987,573 (GRCm39) F104S probably damaging Het
Or56a5 T A 7: 104,792,832 (GRCm39) I223F probably damaging Het
Or5b111 A T 19: 13,291,502 (GRCm39) L49Q probably damaging Het
Or7e166 C T 9: 19,624,885 (GRCm39) T254I probably damaging Het
Patz1 T C 11: 3,241,856 (GRCm39) C415R probably damaging Het
Pcdha9 A T 18: 37,131,546 (GRCm39) N205I possibly damaging Het
Pcdhga12 A T 18: 37,899,711 (GRCm39) E181V probably benign Het
Pcnx1 T C 12: 82,018,158 (GRCm39) Y1333H probably damaging Het
Phf7 A T 14: 30,970,106 (GRCm39) probably benign Het
Pomc T G 12: 4,010,298 (GRCm39) S180A probably benign Het
Ppp1r7 T A 1: 93,288,536 (GRCm39) probably null Het
Prrc2c A T 1: 162,536,478 (GRCm39) probably benign Het
Rsf1 GGC GGCCACGGCCGC 7: 97,229,113 (GRCm39) probably benign Het
Semp2l1 C T 1: 32,585,685 (GRCm39) R75Q probably benign Het
Senp1 T C 15: 97,940,782 (GRCm39) K664E probably damaging Het
Skint7 A G 4: 111,839,198 (GRCm39) N164S possibly damaging Het
Smg1 C A 7: 117,751,900 (GRCm39) R2775M probably null Het
Snrnp27 C T 6: 86,653,226 (GRCm39) V131M probably damaging Het
Spire1 C A 18: 67,629,686 (GRCm39) R357L probably damaging Het
Sspo G A 6: 48,434,071 (GRCm39) V959I probably damaging Het
St6galnac2 T C 11: 116,568,458 (GRCm39) H335R probably damaging Het
Stard13 C T 5: 150,984,267 (GRCm39) R623H probably damaging Het
Syde1 T A 10: 78,424,683 (GRCm39) E383V probably damaging Het
Taf10 A G 7: 105,393,524 (GRCm39) M1T probably null Het
Traf3ip3 A G 1: 192,869,415 (GRCm39) C257R probably damaging Het
Trpm8 G A 1: 88,276,061 (GRCm39) probably benign Het
Veph1 A G 3: 66,171,301 (GRCm39) probably null Het
Vmn1r169 A T 7: 23,276,640 (GRCm39) T11S possibly damaging Het
Wdhd1 A T 14: 47,482,752 (GRCm39) S961T probably benign Het
Zfp773 T C 7: 7,135,469 (GRCm39) T376A 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
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
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'- GTGGTCCTAGCCAAATAGGGATAG -3'
(R):5'- TTTGCTAGGCCCCAGGAAAC -3'

Sequencing Primer
(F):5'- CCTAGCCAAATAGGGATAGTTGATC -3'
(R):5'- GAAACAATTCCCTGATTCTAATTCCC -3'
Posted On 2021-08-31