Incidental Mutation 'R9513:Agbl2'
ID 718267
Institutional Source Beutler Lab
Gene Symbol Agbl2
Ensembl Gene ENSMUSG00000040812
Gene Name ATP/GTP binding protein-like 2
Synonyms Ccp2, A430081C19Rik, Ccp2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 90613071-90664781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90631458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 272 (V272A)
Ref Sequence ENSEMBL: ENSMUSP00000048647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]
AlphaFold Q8CDK2
Predicted Effect probably damaging
Transcript: ENSMUST00000037206
AA Change: V272A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 375 541 1.8e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000037219
AA Change: V272A

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 5e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000051831
AA Change: V272A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 376 565 1.6e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111481
AA Change: V272A

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 5e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136058
AA Change: V272A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 374 618 2.8e-32 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170320
AA Change: V272A

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 98 106 N/A INTRINSIC
Pfam:Peptidase_M14 376 558 1.8e-18 PFAM
low complexity region 640 655 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 761 776 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Accsl T C 2: 93,699,498 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,530,472 (GRCm39) K5867N possibly damaging Het
Adh1 T A 3: 137,988,571 (GRCm39) Y181* probably null Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Amotl1 A T 9: 14,526,063 (GRCm39) S6T probably benign Het
Bicd1 T A 6: 149,414,391 (GRCm39) V368E probably damaging Het
Brinp2 G A 1: 158,074,273 (GRCm39) T616I probably damaging Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Cacna1e T A 1: 154,318,033 (GRCm39) I1450F probably damaging Het
Camk2a A G 18: 61,088,607 (GRCm39) probably null Het
Ccdc125 A G 13: 100,826,875 (GRCm39) E244G probably benign Het
Cdh23 C T 10: 60,166,995 (GRCm39) A1884T probably damaging Het
Clcn1 T C 6: 42,282,462 (GRCm39) I510T probably damaging Het
Copb1 A T 7: 113,831,432 (GRCm39) V572D probably benign Het
Ctf1 AGCAAC A 7: 127,316,180 (GRCm39) probably null Het
Dnhd1 T A 7: 105,354,179 (GRCm39) L3053Q probably damaging Het
Ephb4 T A 5: 137,361,564 (GRCm39) H531Q possibly damaging Het
Fgl2 T A 5: 21,580,790 (GRCm39) C377* probably null Het
Frmd4a T C 2: 4,608,711 (GRCm39) F860L probably damaging Het
Gbp9 T C 5: 105,229,091 (GRCm39) N519D probably benign Het
Gm1110 A G 9: 26,795,083 (GRCm39) S468P possibly damaging Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gnas T C 2: 174,185,089 (GRCm39) Y916H probably damaging Het
Hectd1 T C 12: 51,816,079 (GRCm39) D1336G possibly damaging Het
Herc2 G T 7: 55,762,848 (GRCm39) G859V probably damaging Het
Hydin G A 8: 111,322,114 (GRCm39) D4589N probably damaging Het
Itfg1 A T 8: 86,490,875 (GRCm39) N351K possibly damaging Het
Kcnd3 G A 3: 105,572,863 (GRCm39) probably null Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Lcn4 C T 2: 26,560,613 (GRCm39) probably null Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Lrrtm2 A G 18: 35,346,687 (GRCm39) I205T probably damaging Het
Mepce G C 5: 137,783,759 (GRCm39) P189R probably damaging Het
Mfap1a T C 2: 121,330,084 (GRCm39) K221E probably benign Het
Myo7a A G 7: 97,746,818 (GRCm39) probably null Het
Ncbp3 T C 11: 72,938,727 (GRCm39) M1T probably null Het
Nck1 A T 9: 100,379,369 (GRCm39) M294K probably benign Het
Nr2f2 A T 7: 70,010,056 (GRCm39) W8R probably damaging Het
Or12e10 T A 2: 87,640,187 (GRCm39) S8T possibly damaging Het
Or1e20-ps1 T A 11: 73,324,818 (GRCm39) Q78L unknown Het
Or4c12b A T 2: 89,647,553 (GRCm39) R288S probably damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or7e169 A G 9: 19,757,816 (GRCm39) L33P possibly damaging Het
Or8g18 T C 9: 39,149,625 (GRCm39) T32A probably benign Het
Or8j3c A T 2: 86,253,707 (GRCm39) F104L probably damaging Het
Pcdha1 A G 18: 37,065,286 (GRCm39) K650R probably benign Het
Pgm1 T A 4: 99,841,242 (GRCm39) I532N probably damaging Het
Pik3c2a T A 7: 115,939,321 (GRCm39) K1672N probably benign Het
Pou3f1 G A 4: 124,552,835 (GRCm39) G446S probably benign Het
Ppm1j T C 3: 104,693,134 (GRCm39) I497T probably damaging Het
Pprc1 C T 19: 46,056,500 (GRCm39) Q1202* probably null Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Prdm15 T C 16: 97,607,704 (GRCm39) N713S probably damaging Het
Ptprb A G 10: 116,138,142 (GRCm39) T62A probably benign Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Ranbp3l A T 15: 9,037,176 (GRCm39) R149* probably null Het
Resf1 T A 6: 149,229,793 (GRCm39) Y946* probably null Het
Rfx4 T A 10: 84,674,050 (GRCm39) M1K probably null Het
Ripk4 G T 16: 97,547,098 (GRCm39) S388* probably null Het
Rnft1 T G 11: 86,377,065 (GRCm39) I43R possibly damaging Het
Setbp1 A T 18: 78,899,781 (GRCm39) F1295L probably damaging Het
Sez6 A G 11: 77,865,409 (GRCm39) D682G probably damaging Het
Slc1a1 T C 19: 28,812,734 (GRCm39) probably null Het
Slc7a5 G T 8: 122,613,616 (GRCm39) T312K probably benign Het
Slco4c1 A T 1: 96,799,643 (GRCm39) N64K probably benign Het
Spata13 C T 14: 60,929,849 (GRCm39) T469I probably benign Het
Stxbp5 T A 10: 9,687,754 (GRCm39) N440I probably benign Het
Tas2r114 T A 6: 131,666,746 (GRCm39) Q94L probably benign Het
Tasor T A 14: 27,186,271 (GRCm39) C823* probably null Het
Tfr2 A G 5: 137,575,769 (GRCm39) D295G possibly damaging Het
Thap7 A G 16: 17,348,152 (GRCm39) Y60H probably damaging Het
Tjap1 G T 17: 46,569,733 (GRCm39) P409H probably damaging Het
Tmtc4 G A 14: 123,209,204 (GRCm39) A147V probably benign Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trafd1 T C 5: 121,516,837 (GRCm39) N122S possibly damaging Het
Vmn1r151 T A 7: 22,199,096 (GRCm39) D3V probably benign Het
Wdr20rt A G 12: 65,272,825 (GRCm39) Y96C probably damaging Het
Zfp507 A G 7: 35,475,573 (GRCm39) V880A probably benign Het
Zfp598 A G 17: 24,896,568 (GRCm39) D215G probably damaging Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp738 A T 13: 67,817,635 (GRCm39) C785* probably null Het
Zfp985 C T 4: 147,667,999 (GRCm39) T289I probably damaging Het
Zkscan6 T A 11: 65,712,795 (GRCm39) Y243N probably damaging Het
Other mutations in Agbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Agbl2 APN 2 90,631,389 (GRCm39) missense probably damaging 1.00
IGL00515:Agbl2 APN 2 90,624,304 (GRCm39) missense possibly damaging 0.93
IGL01694:Agbl2 APN 2 90,631,418 (GRCm39) missense probably damaging 1.00
IGL02064:Agbl2 APN 2 90,614,368 (GRCm39) utr 5 prime probably benign
IGL02708:Agbl2 APN 2 90,631,686 (GRCm39) missense probably benign 0.23
IGL02715:Agbl2 APN 2 90,636,212 (GRCm39) missense probably damaging 0.99
IGL02717:Agbl2 APN 2 90,636,212 (GRCm39) missense probably damaging 0.99
IGL02982:Agbl2 APN 2 90,636,159 (GRCm39) missense probably damaging 1.00
IGL03039:Agbl2 APN 2 90,631,566 (GRCm39) missense possibly damaging 0.93
IGL03339:Agbl2 APN 2 90,627,907 (GRCm39) missense probably damaging 1.00
R0243:Agbl2 UTSW 2 90,621,825 (GRCm39) missense possibly damaging 0.80
R0381:Agbl2 UTSW 2 90,614,442 (GRCm39) missense probably damaging 1.00
R0441:Agbl2 UTSW 2 90,627,827 (GRCm39) nonsense probably null
R0549:Agbl2 UTSW 2 90,620,187 (GRCm39) splice site probably benign
R0665:Agbl2 UTSW 2 90,631,554 (GRCm39) missense probably damaging 1.00
R1412:Agbl2 UTSW 2 90,619,298 (GRCm39) missense probably benign
R1682:Agbl2 UTSW 2 90,614,434 (GRCm39) missense probably benign 0.06
R1694:Agbl2 UTSW 2 90,631,664 (GRCm39) missense probably damaging 1.00
R1733:Agbl2 UTSW 2 90,641,089 (GRCm39) missense probably damaging 1.00
R1750:Agbl2 UTSW 2 90,646,720 (GRCm39) utr 3 prime probably benign
R1916:Agbl2 UTSW 2 90,645,785 (GRCm39) missense possibly damaging 0.73
R1940:Agbl2 UTSW 2 90,641,626 (GRCm39) missense probably damaging 0.99
R3115:Agbl2 UTSW 2 90,636,245 (GRCm39) missense possibly damaging 0.85
R3407:Agbl2 UTSW 2 90,621,962 (GRCm39) missense probably damaging 1.00
R3710:Agbl2 UTSW 2 90,636,152 (GRCm39) missense probably benign 0.00
R4227:Agbl2 UTSW 2 90,631,797 (GRCm39) missense probably damaging 0.96
R4719:Agbl2 UTSW 2 90,645,733 (GRCm39) missense probably benign 0.01
R4903:Agbl2 UTSW 2 90,627,817 (GRCm39) missense possibly damaging 0.50
R5170:Agbl2 UTSW 2 90,633,541 (GRCm39) missense probably benign 0.10
R5535:Agbl2 UTSW 2 90,640,350 (GRCm39) missense probably benign 0.26
R5677:Agbl2 UTSW 2 90,638,322 (GRCm39) missense possibly damaging 0.66
R6041:Agbl2 UTSW 2 90,638,371 (GRCm39) missense probably benign 0.00
R6195:Agbl2 UTSW 2 90,643,657 (GRCm39) missense probably benign 0.02
R6233:Agbl2 UTSW 2 90,643,657 (GRCm39) missense probably benign 0.02
R6607:Agbl2 UTSW 2 90,631,670 (GRCm39) missense probably damaging 0.99
R6752:Agbl2 UTSW 2 90,633,418 (GRCm39) missense probably damaging 1.00
R7104:Agbl2 UTSW 2 90,627,891 (GRCm39) missense probably damaging 1.00
R7261:Agbl2 UTSW 2 90,619,288 (GRCm39) missense possibly damaging 0.94
R7555:Agbl2 UTSW 2 90,621,899 (GRCm39) missense probably damaging 1.00
R7704:Agbl2 UTSW 2 90,619,349 (GRCm39) missense probably benign 0.05
R7833:Agbl2 UTSW 2 90,645,777 (GRCm39) missense probably benign 0.00
R7960:Agbl2 UTSW 2 90,621,975 (GRCm39) missense probably benign 0.01
R8070:Agbl2 UTSW 2 90,621,909 (GRCm39) missense probably benign 0.00
R8248:Agbl2 UTSW 2 90,627,908 (GRCm39) missense probably damaging 1.00
R8249:Agbl2 UTSW 2 90,627,908 (GRCm39) missense probably damaging 1.00
R8250:Agbl2 UTSW 2 90,627,908 (GRCm39) missense probably damaging 1.00
R8486:Agbl2 UTSW 2 90,631,499 (GRCm39) missense possibly damaging 0.61
R8501:Agbl2 UTSW 2 90,627,908 (GRCm39) missense probably damaging 1.00
R8856:Agbl2 UTSW 2 90,632,088 (GRCm39) missense probably damaging 1.00
R9039:Agbl2 UTSW 2 90,645,730 (GRCm39) missense probably benign 0.00
R9475:Agbl2 UTSW 2 90,614,437 (GRCm39) missense probably benign 0.00
R9580:Agbl2 UTSW 2 90,636,248 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AAAACACCCGTTTGCTGTAGC -3'
(R):5'- GTCGTCCACATTGTTCTTGTAGTAC -3'

Sequencing Primer
(F):5'- GTGGTCCATCTATTTTTACAAGGAG -3'
(R):5'- GTAGTACTTGATTTCACGGCCC -3'
Posted On 2022-07-18