Incidental Mutation 'R5395:Agbl5'
ID 426109
Institutional Source Beutler Lab
Gene Symbol Agbl5
Ensembl Gene ENSMUSG00000029165
Gene Name ATP/GTP binding protein-like 5
Synonyms Ccp5, 9430057O19Rik
MMRRC Submission 042967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5395 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31046038-31064309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31047682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 58 (T58N)
Ref Sequence ENSEMBL: ENSMUSP00000144274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069705] [ENSMUST00000114700] [ENSMUST00000200695] [ENSMUST00000200850] [ENSMUST00000201168] [ENSMUST00000201225] [ENSMUST00000201817] [ENSMUST00000201917] [ENSMUST00000202060] [ENSMUST00000202109]
AlphaFold Q09M02
Predicted Effect probably damaging
Transcript: ENSMUST00000069705
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063228
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 191 361 8.4e-19 PFAM
low complexity region 384 399 N/A INTRINSIC
Blast:Zn_pept 424 489 4e-14 BLAST
low complexity region 538 548 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114700
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110348
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 220 390 1.1e-18 PFAM
low complexity region 413 428 N/A INTRINSIC
Blast:Zn_pept 453 518 5e-14 BLAST
low complexity region 567 577 N/A INTRINSIC
low complexity region 672 683 N/A INTRINSIC
low complexity region 743 762 N/A INTRINSIC
low complexity region 766 787 N/A INTRINSIC
low complexity region 824 835 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134956
AA Change: D115E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148394
AA Change: D466E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150075
AA Change: D19E
Predicted Effect probably damaging
Transcript: ENSMUST00000200695
AA Change: T58N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144109
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
SCOP:d2ctc__ 148 177 5e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000200850
AA Change: T58N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144274
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
SCOP:d1jqga1 178 229 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201167
Predicted Effect probably damaging
Transcript: ENSMUST00000201168
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143808
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 196 370 7.3e-13 PFAM
low complexity region 384 399 N/A INTRINSIC
Blast:Zn_pept 424 489 5e-14 BLAST
low complexity region 538 548 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
low complexity region 714 733 N/A INTRINSIC
low complexity region 737 758 N/A INTRINSIC
low complexity region 836 847 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201225
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143934
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 196 373 5.9e-13 PFAM
low complexity region 384 399 N/A INTRINSIC
Blast:Zn_pept 424 489 5e-14 BLAST
low complexity region 538 548 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
low complexity region 714 733 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201817
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144304
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 196 372 6.4e-13 PFAM
low complexity region 384 399 N/A INTRINSIC
Blast:Zn_pept 424 489 5e-14 BLAST
low complexity region 538 548 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
low complexity region 714 733 N/A INTRINSIC
low complexity region 737 758 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201917
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144188
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 196 372 6.5e-13 PFAM
low complexity region 384 399 N/A INTRINSIC
Blast:Zn_pept 424 489 5e-14 BLAST
low complexity region 538 548 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
low complexity region 714 733 N/A INTRINSIC
low complexity region 737 758 N/A INTRINSIC
low complexity region 795 806 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201918
Predicted Effect probably damaging
Transcript: ENSMUST00000202060
AA Change: T58N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144018
Gene: ENSMUSG00000029165
AA Change: T58N

DomainStartEndE-ValueType
low complexity region 34 50 N/A INTRINSIC
Pfam:Peptidase_M14 196 373 5.9e-13 PFAM
low complexity region 384 399 N/A INTRINSIC
Blast:Zn_pept 424 489 5e-14 BLAST
low complexity region 538 548 N/A INTRINSIC
low complexity region 643 654 N/A INTRINSIC
low complexity region 714 733 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202565
Predicted Effect probably benign
Transcript: ENSMUST00000202109
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to HSV or VACV infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,874,590 (GRCm39) I268V probably benign Het
Actn1 T A 12: 80,217,477 (GRCm39) I782F probably benign Het
Adamdec1 A C 14: 68,808,352 (GRCm39) S333A probably benign Het
Apoo-ps T A 13: 107,550,993 (GRCm39) noncoding transcript Het
Arhgef10l T C 4: 140,297,601 (GRCm39) N277S probably benign Het
Ascc2 A G 11: 4,609,273 (GRCm39) E241G possibly damaging Het
Atp13a4 A T 16: 29,239,706 (GRCm39) Y835* probably null Het
Atp13a4 A G 16: 29,275,422 (GRCm39) V354A possibly damaging Het
Bcas3 T C 11: 85,716,075 (GRCm39) S426P probably damaging Het
Birc2 T C 9: 7,861,175 (GRCm39) R48G probably damaging Het
Cacna2d4 T C 6: 119,248,379 (GRCm39) S397P possibly damaging Het
Ccng2 T C 5: 93,417,257 (GRCm39) M91T possibly damaging Het
Clk3 G A 9: 57,660,622 (GRCm39) T473M probably damaging Het
Cog2 T A 8: 125,271,960 (GRCm39) H491Q probably benign Het
Cyp4f40 C T 17: 32,888,827 (GRCm39) T202I probably benign Het
Dennd1a A T 2: 37,692,140 (GRCm39) F181I probably damaging Het
Fcrl6 G T 1: 172,426,287 (GRCm39) A170D possibly damaging Het
Fev T C 1: 74,921,823 (GRCm39) probably null Het
Flnb A G 14: 7,883,881 (GRCm38) N369S probably benign Het
Flt3 A G 5: 147,291,633 (GRCm39) F606L probably damaging Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Gdnf T A 15: 7,864,165 (GRCm39) L192Q probably damaging Het
Gjc2 A T 11: 59,068,315 (GRCm39) C56S possibly damaging Het
Gli3 T C 13: 15,889,535 (GRCm39) F550L probably damaging Het
Gm1110 T C 9: 26,800,928 (GRCm39) E422G probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gnb2 A G 5: 137,526,788 (GRCm39) S334P probably damaging Het
Icam2 A T 11: 106,273,299 (GRCm39) probably null Het
Inca1 C T 11: 70,581,264 (GRCm39) probably null Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Lrp1 T C 10: 127,431,166 (GRCm39) D332G probably damaging Het
Ly75 A T 2: 60,195,455 (GRCm39) N234K probably benign Het
Mcm5 G A 8: 75,849,654 (GRCm39) S542N probably benign Het
Mcm9 A T 10: 53,414,788 (GRCm39) N97K possibly damaging Het
Morc2a G A 11: 3,638,232 (GRCm39) R986H possibly damaging Het
Neu2 T A 1: 87,524,397 (GRCm39) probably null Het
Nfatc1 G A 18: 80,679,235 (GRCm39) P718S possibly damaging Het
Nol6 G A 4: 41,118,392 (GRCm39) probably benign Het
Or10j7 A T 1: 173,011,247 (GRCm39) Y251* probably null Het
Otogl T C 10: 107,652,999 (GRCm39) N1118D probably benign Het
Pcdh15 T A 10: 74,021,119 (GRCm39) I111K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Piwil2 G T 14: 70,632,846 (GRCm39) N575K probably benign Het
Pou4f2 T A 8: 79,161,701 (GRCm39) I301F probably damaging Het
Prkd1 T C 12: 50,438,215 (GRCm39) N409S probably damaging Het
Ptpn21 T G 12: 98,681,376 (GRCm39) K86T probably damaging Het
Raly T A 2: 154,705,927 (GRCm39) probably null Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sdr16c5 T C 4: 4,016,277 (GRCm39) S50G probably benign Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Slc20a1 A T 2: 129,050,257 (GRCm39) N472Y probably damaging Het
Slc35d1 C T 4: 103,068,572 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc7a8 C A 14: 54,970,734 (GRCm39) G306* probably null Het
Slc9a8 T A 2: 167,309,642 (GRCm39) F335L probably damaging Het
Smyd1 T G 6: 71,196,374 (GRCm39) K338T possibly damaging Het
Snd1 T A 6: 28,526,183 (GRCm39) V187E probably damaging Het
Spag9 T G 11: 93,982,577 (GRCm39) probably null Het
Tnfsf9 C A 17: 57,412,592 (GRCm39) T54K probably benign Het
Trim24 T G 6: 37,934,679 (GRCm39) V798G probably damaging Het
Tyr C A 7: 87,121,698 (GRCm39) A365S probably damaging Het
Usp43 T A 11: 67,788,184 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,385,874 (GRCm39) D702G probably damaging Het
Vmn2r72 A G 7: 85,400,105 (GRCm39) S315P possibly damaging Het
Wdr64 T A 1: 175,583,164 (GRCm39) F367I probably damaging Het
Zc3h7b G A 15: 81,656,702 (GRCm39) R173K possibly damaging Het
Zfp493 T A 13: 67,931,965 (GRCm39) C21* probably null Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zpbp2 T A 11: 98,449,039 (GRCm39) V275D probably damaging Het
Other mutations in Agbl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Agbl5 APN 5 31,050,578 (GRCm39) missense probably benign 0.00
sausage UTSW 5 31,051,702 (GRCm39) nonsense probably null
R0355:Agbl5 UTSW 5 31,049,335 (GRCm39) critical splice donor site probably null
R0575:Agbl5 UTSW 5 31,051,798 (GRCm39) missense probably damaging 1.00
R1694:Agbl5 UTSW 5 31,050,726 (GRCm39) missense probably damaging 1.00
R1709:Agbl5 UTSW 5 31,063,585 (GRCm39) missense probably damaging 1.00
R1829:Agbl5 UTSW 5 31,060,408 (GRCm39) missense possibly damaging 0.66
R2434:Agbl5 UTSW 5 31,051,357 (GRCm39) missense probably damaging 0.97
R3418:Agbl5 UTSW 5 31,062,067 (GRCm39) missense probably damaging 1.00
R4827:Agbl5 UTSW 5 31,053,158 (GRCm39) missense probably damaging 1.00
R4828:Agbl5 UTSW 5 31,048,059 (GRCm39) missense probably damaging 1.00
R4830:Agbl5 UTSW 5 31,048,059 (GRCm39) missense probably damaging 1.00
R5017:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5018:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5036:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5038:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5052:Agbl5 UTSW 5 31,048,558 (GRCm39) missense possibly damaging 0.76
R5071:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5073:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5074:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5081:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5083:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5103:Agbl5 UTSW 5 31,051,345 (GRCm39) missense probably damaging 1.00
R5107:Agbl5 UTSW 5 31,049,822 (GRCm39) missense probably damaging 1.00
R5130:Agbl5 UTSW 5 31,060,403 (GRCm39) missense probably damaging 1.00
R5522:Agbl5 UTSW 5 31,051,247 (GRCm39) splice site probably null
R5524:Agbl5 UTSW 5 31,051,247 (GRCm39) splice site probably null
R5526:Agbl5 UTSW 5 31,051,247 (GRCm39) splice site probably null
R5657:Agbl5 UTSW 5 31,051,390 (GRCm39) missense probably damaging 1.00
R5790:Agbl5 UTSW 5 31,051,702 (GRCm39) nonsense probably null
R6301:Agbl5 UTSW 5 31,049,177 (GRCm39) missense probably damaging 1.00
R6891:Agbl5 UTSW 5 31,052,522 (GRCm39) missense probably damaging 1.00
R6919:Agbl5 UTSW 5 31,062,061 (GRCm39) missense probably benign 0.13
R7388:Agbl5 UTSW 5 31,060,583 (GRCm39) nonsense probably null
R7392:Agbl5 UTSW 5 31,048,115 (GRCm39) critical splice donor site probably null
R7410:Agbl5 UTSW 5 31,048,032 (GRCm39) missense possibly damaging 0.94
R7452:Agbl5 UTSW 5 31,050,735 (GRCm39) missense probably damaging 1.00
R8312:Agbl5 UTSW 5 31,051,850 (GRCm39) missense probably damaging 1.00
R8901:Agbl5 UTSW 5 31,048,435 (GRCm39) missense possibly damaging 0.58
RF007:Agbl5 UTSW 5 31,060,589 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGGGGCAAGAGGATGCTTTC -3'
(R):5'- CCAAAAGAGAGACCAGCTGTTG -3'

Sequencing Primer
(F):5'- TTCCCAGCCCCACCATGG -3'
(R):5'- GGAAAGCTGAATCAAATCAAGTCC -3'
Posted On 2016-08-04