Incidental Mutation 'R1412:Agbl2'
ID 159624
Institutional Source Beutler Lab
Gene Symbol Agbl2
Ensembl Gene ENSMUSG00000040812
Gene Name ATP/GTP binding protein-like 2
Synonyms Ccp2, A430081C19Rik, Ccp2
MMRRC Submission 039468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1412 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90613071-90664781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90619298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 41 (N41S)
Ref Sequence ENSEMBL: ENSMUSP00000129216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]
AlphaFold Q8CDK2
Predicted Effect probably benign
Transcript: ENSMUST00000037206
AA Change: N41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: N41S

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 probably benign
Transcript: ENSMUST00000037219
AA Change: N41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: N41S

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 benign
Transcript: ENSMUST00000051831
AA Change: N41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: N41S

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 probably benign
Transcript: ENSMUST00000111481
AA Change: N41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: N41S

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 benign
Transcript: ENSMUST00000136058
AA Change: N41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: N41S

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 noncoding transcript
Transcript: ENSMUST00000149037
Predicted Effect probably benign
Transcript: ENSMUST00000170320
AA Change: N41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: N41S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149361
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.5%
Validation Efficiency 98% (48/49)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,359 (GRCm39) probably benign Het
Abca15 C T 7: 119,944,546 (GRCm39) R394C possibly damaging Het
Adamts9 T C 6: 92,773,414 (GRCm39) Q1152R probably benign Het
Adgrv1 C T 13: 81,243,569 (GRCm39) G6277E probably damaging Het
Akap7 A T 10: 25,165,495 (GRCm39) probably null Het
Arl6ip1 A G 7: 117,719,591 (GRCm39) I179T possibly damaging Het
Atp1a4 C T 1: 172,059,576 (GRCm39) D839N probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
C1qtnf12 T C 4: 156,047,190 (GRCm39) V52A probably benign Het
C1qtnf2 A G 11: 43,381,959 (GRCm39) Y257C probably damaging Het
Cdc123 A T 2: 5,808,776 (GRCm39) D233E possibly damaging Het
Chdh G A 14: 29,756,680 (GRCm39) E369K probably benign Het
D630045J12Rik A G 6: 38,172,695 (GRCm39) V491A probably benign Het
Focad T C 4: 88,196,498 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,805 (GRCm39) probably null Het
Hat1 G T 2: 71,250,961 (GRCm39) E170* probably null Het
Hs3st5 A T 10: 36,708,672 (GRCm39) H69L probably benign Het
Igsf10 T C 3: 59,235,196 (GRCm39) probably benign Het
Itga2b A T 11: 102,347,831 (GRCm39) L890Q probably benign Het
Or52e8b A G 7: 104,673,402 (GRCm39) F262L probably damaging Het
Or7d11 C G 9: 19,966,711 (GRCm39) G16A possibly damaging Het
Parp10 A G 15: 76,127,284 (GRCm39) L51P probably damaging Het
Pbld2 A G 10: 62,883,301 (GRCm39) T108A probably damaging Het
Pdlim2 A T 14: 70,411,773 (GRCm39) probably benign Het
Pikfyve T C 1: 65,241,989 (GRCm39) V243A possibly damaging Het
Pla2g12b G A 10: 59,239,804 (GRCm39) probably null Het
Raly A G 2: 154,699,315 (GRCm39) T40A possibly damaging Het
Rasgrp3 G T 17: 75,816,822 (GRCm39) probably null Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smim22 G C 16: 4,825,649 (GRCm39) E11D possibly damaging Het
Socs2 T C 10: 95,250,780 (GRCm39) S18G probably benign Het
Srgap2 T C 1: 131,228,151 (GRCm39) E720G possibly damaging Het
Tas2r135 A G 6: 42,382,768 (GRCm39) I102M probably benign Het
Tex19.2 A G 11: 121,007,761 (GRCm39) V229A possibly damaging Het
Vmn1r234 T A 17: 21,449,512 (GRCm39) I142N probably benign Het
Vps35l A T 7: 118,409,194 (GRCm39) I612F probably damaging Het
Vwa3a C T 7: 120,379,377 (GRCm39) T494I probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfhx3 A G 8: 109,641,199 (GRCm39) D1166G possibly 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
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
R9513:Agbl2 UTSW 2 90,631,458 (GRCm39) missense possibly damaging 0.60
R9580:Agbl2 UTSW 2 90,636,248 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GCCATTTATCCCGTTACACAGTGGTC -3'
(R):5'- AGTTTTCAAGGCACTGAGGTTCCG -3'

Sequencing Primer
(F):5'- CCTCTGCATACATTGGAATGTTGAG -3'
(R):5'- CACTGAGGTTCCGGGTGG -3'
Posted On 2014-03-14