Incidental Mutation 'R8856:Agbl2'
ID 675300
Institutional Source Beutler Lab
Gene Symbol Agbl2
Ensembl Gene ENSMUSG00000040812
Gene Name ATP/GTP binding protein-like 2
Synonyms Ccp2, A430081C19Rik, Ccp2
MMRRC Submission 068737-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 90613071-90664781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90632088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 482 (D482G)
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: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: D482G

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: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: D482G

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: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: D482G

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: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: D482G

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: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: D482G

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: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: D482G

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: 99.7%
  • 20x: 98.9%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,618,349 (GRCm39) R214H probably benign Het
Abca4 A G 3: 121,906,096 (GRCm39) S822G probably benign Het
Adgrv1 T A 13: 81,707,621 (GRCm39) I1262F probably benign Het
Asph T A 4: 9,630,947 (GRCm39) T134S possibly damaging Het
Cacna1a C T 8: 85,286,070 (GRCm39) A905V probably benign Het
Cacna1b C T 2: 24,569,530 (GRCm39) R798H probably benign Het
Cpne8 G T 15: 90,486,044 (GRCm39) Q140K probably benign Het
Crocc2 A T 1: 93,120,847 (GRCm39) N538I probably benign Het
Cyp2j9 T A 4: 96,462,184 (GRCm39) I366F probably damaging Het
Dchs1 A T 7: 105,410,064 (GRCm39) D1769E probably damaging Het
Def6 A T 17: 28,435,972 (GRCm39) I44F probably damaging Het
Dnah7a G A 1: 53,462,422 (GRCm39) T3723M probably damaging Het
Ecd T A 14: 20,387,140 (GRCm39) Y198F probably damaging Het
Ecel1 A C 1: 87,079,760 (GRCm39) M451R probably damaging Het
Eea1 A G 10: 95,831,506 (GRCm39) D199G probably benign Het
Efna5 A T 17: 62,914,374 (GRCm39) I217N unknown Het
F13a1 A T 13: 37,100,859 (GRCm39) D428E probably damaging Het
Fads1 T G 19: 10,170,276 (GRCm39) I272S probably benign Het
Fam149a C T 8: 45,834,611 (GRCm39) A63T Het
Fam83a A T 15: 57,872,977 (GRCm39) N269Y probably damaging Het
Fasn G A 11: 120,708,979 (GRCm39) T568I possibly damaging Het
Fbn1 A G 2: 125,156,637 (GRCm39) S2363P probably damaging Het
Fbxl4 T A 4: 22,390,803 (GRCm39) W329R probably damaging Het
Fgf12 A T 16: 28,008,233 (GRCm39) V189E probably damaging Het
Frmd4b A T 6: 97,269,359 (GRCm39) Y984* probably null Het
Galm A G 17: 80,490,661 (GRCm39) T273A possibly damaging Het
Gm43302 A G 5: 105,438,739 (GRCm39) S50P probably damaging Het
Gm45861 C T 8: 28,010,788 (GRCm39) S561L unknown Het
Gnao1 A G 8: 94,538,045 (GRCm39) I28V probably benign Het
Golga4 A G 9: 118,385,779 (GRCm39) N967S probably damaging Het
Gpr155 A T 2: 73,203,993 (GRCm39) F274I probably benign Het
Grm1 A C 10: 10,595,092 (GRCm39) N845K probably damaging Het
Hnrnpa2b1 A T 6: 51,443,120 (GRCm39) probably null Het
Hsf4 G T 8: 105,996,628 (GRCm39) D18Y probably null Het
Htt T A 5: 35,060,675 (GRCm39) D2774E probably benign Het
Iars2 A G 1: 185,028,621 (GRCm39) I679T probably benign Het
Irf4 T C 13: 30,945,414 (GRCm39) F387L probably damaging Het
Itgb5 A G 16: 33,720,962 (GRCm39) Y342C probably damaging Het
Kcnmb4 A G 10: 116,282,299 (GRCm39) W133R possibly damaging Het
Ldhc A T 7: 46,525,999 (GRCm39) H271L probably benign Het
Lmtk2 C A 5: 144,113,079 (GRCm39) D1266E probably damaging Het
Lrrtm1 C A 6: 77,221,807 (GRCm39) N421K possibly damaging Het
Ly9 G A 1: 171,432,587 (GRCm39) T142I probably benign Het
Manba A G 3: 135,223,764 (GRCm39) Y217C probably damaging Het
Mapkbp1 T C 2: 119,845,109 (GRCm39) L330P probably damaging Het
Marchf2 A T 17: 33,915,165 (GRCm39) V143E probably benign Het
Mmel1 A T 4: 154,969,478 (GRCm39) D191V possibly damaging Het
Mrgpra1 A T 7: 46,985,583 (GRCm39) I32N probably benign Het
Mroh2b C T 15: 4,960,510 (GRCm39) Q748* probably null Het
Mrpl34 T G 8: 71,918,024 (GRCm39) W66G probably damaging Het
Muc21 T C 17: 35,931,865 (GRCm39) T774A unknown Het
Nde1 T A 16: 14,001,446 (GRCm39) S165T Het
Nek10 T G 14: 14,937,610 (GRCm38) I776M probably damaging Het
Nell2 A G 15: 95,281,552 (GRCm39) S385P probably damaging Het
Nsf A T 11: 103,821,568 (GRCm39) F29Y possibly damaging Het
Nsmaf A T 4: 6,433,320 (GRCm39) Y133* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or14j8 A T 17: 38,263,091 (GRCm39) S275T possibly damaging Het
Pcdhb8 A G 18: 37,489,776 (GRCm39) I485V probably benign Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Pramel24 A T 4: 143,453,303 (GRCm39) N137I probably benign Het
Prdm5 G A 6: 65,860,569 (GRCm39) V418I possibly damaging Het
Psmc6 T A 14: 45,578,320 (GRCm39) C228S probably damaging Het
Ptgfrn C T 3: 100,963,927 (GRCm39) A562T possibly damaging Het
Ralgapa2 G T 2: 146,184,139 (GRCm39) Q1576K probably benign Het
Ranbp9 C T 13: 43,567,506 (GRCm39) G400D probably damaging Het
Rgs11 A T 17: 26,423,484 (GRCm39) I134F probably damaging Het
Rnf150 T A 8: 83,762,715 (GRCm39) C317S probably damaging Het
Rrm2b G A 15: 37,960,858 (GRCm39) probably benign Het
Scai T C 2: 38,996,978 (GRCm39) Q272R probably benign Het
Sec62 C T 3: 30,847,506 (GRCm39) R4C possibly damaging Het
Sgo2b C A 8: 64,393,091 (GRCm39) L115F probably null Het
Slc44a3 G A 3: 121,307,456 (GRCm39) P177S probably damaging Het
Slc45a4 G A 15: 73,457,966 (GRCm39) L528F probably damaging Het
Slco1a1 G T 6: 141,857,624 (GRCm39) A569D probably damaging Het
Stam2 G T 2: 52,604,984 (GRCm39) Q184K probably damaging Het
Tada2b A T 5: 36,641,166 (GRCm39) L79Q probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tecta A T 9: 42,284,597 (GRCm39) D829E probably benign Het
Tepsin A G 11: 119,982,654 (GRCm39) V472A probably benign Het
Tnfrsf1a G A 6: 125,334,688 (GRCm39) M109I possibly damaging Het
Trim42 A T 9: 97,245,275 (GRCm39) Y508* probably null Het
Trmo T G 4: 46,387,625 (GRCm39) N65T probably benign Het
Tspear G T 10: 77,665,471 (GRCm39) E86* probably null Het
Ubr1 A T 2: 120,734,523 (GRCm39) S1126T probably damaging Het
Usp50 C A 2: 126,622,477 (GRCm39) D28Y probably damaging Het
Utp6 T A 11: 79,842,455 (GRCm39) I225F probably benign Het
Utrn T C 10: 12,543,351 (GRCm39) T1766A probably benign Het
Vcl T A 14: 21,045,160 (GRCm39) N288K probably benign Het
Vmn2r69 T C 7: 85,061,663 (GRCm39) N104D probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfhx4 T A 3: 5,455,484 (GRCm39) S1159R probably benign 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
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'- AAAGCTGTGGTCTTGAGCG -3'
(R):5'- ACTGCAAGGACCGTCAAAG -3'

Sequencing Primer
(F):5'- TCTTGAGCGCCCGAGTC -3'
(R):5'- CGTCAAAGCCATACCGGG -3'
Posted On 2021-07-15