Incidental Mutation 'R9039:Agbl2'
ID 687591
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 # R9039 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90613071-90664781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90645730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 821 (T821I)
Ref Sequence ENSEMBL: ENSMUSP00000048647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]
AlphaFold Q8CDK2
Predicted Effect probably benign
Transcript: ENSMUST00000037206
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812

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: T821I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: T821I

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
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812

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: T821I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: T821I

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
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812

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 benign
Transcript: ENSMUST00000170320
AA Change: T821I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: T821I

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,849 (GRCm39) V692A possibly damaging Het
Aco2 C G 15: 81,756,620 (GRCm39) probably benign Het
Adcy10 T C 1: 165,345,914 (GRCm39) I321T probably damaging Het
Alpk1 A G 3: 127,473,192 (GRCm39) L937P probably damaging Het
Atp5f1b A G 10: 127,919,767 (GRCm39) D45G probably benign Het
C8a C T 4: 104,679,200 (GRCm39) R530H probably benign Het
Cacna1s T C 1: 136,016,057 (GRCm39) S694P probably benign Het
Cdca7 T A 2: 72,312,856 (GRCm39) D162E probably benign Het
Cep78 G T 19: 15,936,907 (GRCm39) Q600K probably benign Het
Cert1 C T 13: 96,679,717 (GRCm39) P16S probably benign Het
Coq8b A C 7: 26,950,011 (GRCm39) R363S probably benign Het
Cpne3 A T 4: 19,540,770 (GRCm39) C202S probably damaging Het
Csmd3 G T 15: 47,483,308 (GRCm39) probably benign Het
Cyp4a14 A T 4: 115,344,461 (GRCm39) V468E probably damaging Het
Dchs1 A T 7: 105,405,215 (GRCm39) D2442E probably benign Het
Dip2a T C 10: 76,163,553 (GRCm39) Y49C probably benign Het
Dop1a A G 9: 86,382,870 (GRCm39) R268G probably damaging Het
Eid3 C T 10: 82,703,565 (GRCm39) S342L possibly damaging Het
Ezh2 A G 6: 47,528,671 (GRCm39) L296P possibly damaging Het
Fgfrl1 G C 5: 108,853,439 (GRCm39) probably null Het
Flg2 A G 3: 93,110,899 (GRCm39) R976G unknown Het
Fsip2 C A 2: 82,828,545 (GRCm39) Q6781K probably benign Het
Golga3 C T 5: 110,352,799 (GRCm39) H857Y probably benign Het
Hmcn2 T A 2: 31,244,646 (GRCm39) V701E probably damaging Het
Il21 A T 3: 37,286,602 (GRCm39) I38N probably benign Het
Ip6k2 G T 9: 108,681,807 (GRCm39) G246V probably damaging Het
Ipo13 T C 4: 117,758,185 (GRCm39) Q726R probably damaging Het
Itsn1 A T 16: 91,703,658 (GRCm39) N1521Y unknown Het
Kif2b A G 11: 91,467,131 (GRCm39) V384A possibly damaging Het
L3mbtl1 G T 2: 162,807,988 (GRCm39) R541L probably damaging Het
Lama3 T A 18: 12,614,120 (GRCm39) C1296* probably null Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Ly6c1 C A 15: 74,917,300 (GRCm39) G116V probably damaging Het
Mmp27 C A 9: 7,581,250 (GRCm39) F478L probably benign Het
Moxd1 T A 10: 24,155,251 (GRCm39) probably benign Het
Naaa T A 5: 92,420,300 (GRCm39) probably benign Het
Nav1 T A 1: 135,371,487 (GRCm39) Q1746L unknown Het
Nedd9 T C 13: 41,471,984 (GRCm39) Y165C probably damaging Het
Neurod1 T C 2: 79,284,720 (GRCm39) Y221C probably damaging Het
Or2q1 A T 6: 42,794,545 (GRCm39) I47F probably damaging Het
Or4c122 G T 2: 89,079,545 (GRCm39) F152L probably benign Het
Or5al6 T C 2: 85,976,625 (GRCm39) Y151C probably damaging Het
Or9m1 T C 2: 87,733,907 (GRCm39) T38A probably damaging Het
Orm3 A G 4: 63,274,533 (GRCm39) N33D possibly damaging Het
Ppp1r3a G A 6: 14,754,525 (GRCm39) P241S probably damaging Het
Ppp1r9a A G 6: 5,134,657 (GRCm39) T949A probably benign Het
Prdx6 A T 1: 161,078,619 (GRCm39) I23N probably damaging Het
Prkd3 A T 17: 79,280,003 (GRCm39) V334E probably benign Het
Prr12 A T 7: 44,684,146 (GRCm39) D1631E probably damaging Het
Ptpn22 A G 3: 103,819,551 (GRCm39) probably benign Het
Pum2 T G 12: 8,794,430 (GRCm39) D773E probably damaging Het
Sidt2 A G 9: 45,856,648 (GRCm39) C451R probably benign Het
Slc37a2 A G 9: 37,148,658 (GRCm39) S275P probably benign Het
Slmap G T 14: 26,254,519 (GRCm39) N54K probably benign Het
Susd4 A G 1: 182,681,597 (GRCm39) D146G probably benign Het
Tekt3 G A 11: 62,972,169 (GRCm39) R275H possibly damaging Het
Tkfc A G 19: 10,573,612 (GRCm39) L242P probably damaging Het
Tm9sf2 T A 14: 122,363,576 (GRCm39) L99I probably benign Het
Triqk A T 4: 12,980,490 (GRCm39) D78V probably damaging Het
Trmo T C 4: 46,382,322 (GRCm39) D258G probably benign Het
Tsc2 A G 17: 24,826,489 (GRCm39) V920A probably benign Het
Tspan17 C T 13: 54,943,991 (GRCm39) Q257* probably null Het
Tube1 T A 10: 39,011,017 (GRCm39) F45I probably damaging Het
Vmn1r4 A G 6: 56,933,822 (GRCm39) T109A possibly damaging Het
Vmn2r14 A T 5: 109,367,902 (GRCm39) Y363* probably null Het
Zfp324 G T 7: 12,705,455 (GRCm39) G548V probably benign Het
Zpld2 C A 4: 133,922,858 (GRCm39) V492F 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
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'- ACCTCTACTTTGCTGAGAAACTAG -3'
(R):5'- ACCTTTGGAGGAAGCAGCTG -3'

Sequencing Primer
(F):5'- GCTGAGAAACTAGGTCAAATTCCTG -3'
(R):5'- CTGTGTGTCGCAGCAAGAG -3'
Posted On 2021-11-19