Incidental Mutation 'R6752:Agbl2'
ID 530815
Institutional Source Beutler Lab
Gene Symbol Agbl2
Ensembl Gene ENSMUSG00000040812
Gene Name ATP/GTP binding protein-like 2
Synonyms Ccp2, A430081C19Rik, Ccp2
MMRRC Submission 044869-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6752 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90613071-90664781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90633418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 518 (C518Y)
Ref Sequence ENSEMBL: ENSMUSP00000129216 (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: C518Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: C518Y

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 damaging
Transcript: ENSMUST00000037219
AA Change: C518Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: C518Y

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: C518Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: C518Y

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 damaging
Transcript: ENSMUST00000111481
AA Change: C518Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: C518Y

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 noncoding transcript
Transcript: ENSMUST00000118431
Predicted Effect probably damaging
Transcript: ENSMUST00000136058
AA Change: C518Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: C518Y

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 probably damaging
Transcript: ENSMUST00000170320
AA Change: C518Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: C518Y

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: ENSMUST00000149037
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,086,309 (GRCm39) L45S probably benign Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aox1 T C 1: 58,086,398 (GRCm39) I101T probably benign Het
Arhgap23 T C 11: 97,343,074 (GRCm39) F241S probably damaging Het
Asmt A G X: 169,110,096 (GRCm39) M202V probably benign Het
Atp6v0a2 A G 5: 124,779,452 (GRCm39) E189G probably damaging Het
Birc2 G A 9: 7,857,345 (GRCm39) A376V probably benign Het
Ccbe1 C T 18: 66,209,378 (GRCm39) probably null Het
Chst2 C A 9: 95,286,802 (GRCm39) E515* probably null Het
Col12a1 A T 9: 79,540,706 (GRCm39) N2426K possibly damaging Het
Dmrt2 A G 19: 25,655,706 (GRCm39) N435S probably damaging Het
Dnah14 A G 1: 181,421,017 (GRCm39) K123E probably benign Het
Dock4 T A 12: 40,870,616 (GRCm39) L1452Q probably damaging Het
Galnt7 G A 8: 58,105,985 (GRCm39) R10C probably damaging Het
Gm16506 A G 14: 43,964,876 (GRCm39) I22T unknown Het
H2-Q6 A G 17: 35,647,103 (GRCm39) T292A probably damaging Het
Ifne A G 4: 88,798,319 (GRCm39) M33T probably benign Het
Igf2r G A 17: 12,933,831 (GRCm39) R808W probably damaging Het
Igfbp5 T C 1: 72,903,068 (GRCm39) E169G probably damaging Het
Inppl1 G A 7: 101,481,749 (GRCm39) R198* probably null Het
Irgm1 T C 11: 48,757,290 (GRCm39) T174A probably damaging Het
Itih3 C T 14: 30,645,446 (GRCm39) G21S possibly damaging Het
Klra4 G T 6: 130,038,991 (GRCm39) Q134K probably benign Het
Mfsd1 T A 3: 67,503,936 (GRCm39) Y309* probably null Het
Mrps10 A G 17: 47,688,740 (GRCm39) N162S probably damaging Het
Mtmr14 T C 6: 113,217,358 (GRCm39) F90S probably damaging Het
Myh15 A G 16: 49,003,290 (GRCm39) D1783G probably damaging Het
Myo3b A G 2: 70,119,856 (GRCm39) E972G probably damaging Het
Myt1 G T 2: 181,442,875 (GRCm39) V455F probably damaging Het
Nbea A T 3: 55,944,640 (GRCm39) S575T probably benign Het
Nbea T A 3: 55,875,730 (GRCm39) T1647S probably benign Het
Ntn4 A G 10: 93,570,037 (GRCm39) N466S probably benign Het
Or10ag52 A G 2: 87,043,388 (GRCm39) M51V probably benign Het
Or5b114-ps1 T A 19: 13,352,890 (GRCm39) L188H unknown Het
Or5h27 T A 16: 59,006,694 (GRCm39) N51Y probably damaging Het
Pcdhgb4 T A 18: 37,853,704 (GRCm39) I33N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pom121l2 T G 13: 22,165,939 (GRCm39) F70C probably damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Rab11fip2 T C 19: 59,895,475 (GRCm39) D471G probably damaging Het
Rnh1 A G 7: 140,743,354 (GRCm39) V207A probably benign Het
Sh3tc2 C A 18: 62,094,108 (GRCm39) T49N probably benign Het
Skint4 T C 4: 111,977,060 (GRCm39) M158T possibly damaging Het
Skint7 T A 4: 111,837,463 (GRCm39) H80Q probably benign Het
Smg1 A G 7: 117,762,539 (GRCm39) probably benign Het
Sostdc1 T C 12: 36,364,411 (GRCm39) V40A probably benign Het
Sptlc1 C A 13: 53,489,394 (GRCm39) K437N possibly damaging Het
Stat2 T C 10: 128,119,622 (GRCm39) F503L probably damaging Het
Syt16 A T 12: 74,275,987 (GRCm39) probably null Het
Tspyl1 T C 10: 34,158,583 (GRCm39) S103P probably benign Het
Ube4a A T 9: 44,837,246 (GRCm39) S1053R probably damaging Het
Vipr1 A G 9: 121,482,959 (GRCm39) N58S probably damaging Het
Zfp184 C A 13: 22,143,578 (GRCm39) A428E probably damaging Het
Zfp292 A C 4: 34,808,593 (GRCm39) F1484V possibly damaging Het
Zfp599 G A 9: 22,160,840 (GRCm39) H442Y probably damaging Het
Zfp944 G A 17: 22,558,500 (GRCm39) T249I probably benign Het
Zkscan14 T A 5: 145,132,316 (GRCm39) H405L 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
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'- ACAAAAGTTCCCAAGCTGTGTG -3'
(R):5'- TTCACTGAGAGTCTGATGTCTTC -3'

Sequencing Primer
(F):5'- CAGGTATGAGAAGGGTTGGCC -3'
(R):5'- AGAGTCTGATGTCTTCTTTTGCC -3'
Posted On 2018-08-01