Incidental Mutation 'R5677:Agbl2'
ID 501251
Institutional Source Beutler Lab
Gene Symbol Agbl2
Ensembl Gene ENSMUSG00000040812
Gene Name ATP/GTP binding protein-like 2
Synonyms Ccp2, A430081C19Rik, Ccp2
MMRRC Submission 043316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5677 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 90613071-90664781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90638322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 636 (Y636N)
Ref Sequence ENSEMBL: ENSMUSP00000051620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]
AlphaFold Q8CDK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000037206
AA Change: Y636N

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: Y636N

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: Y636N

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: Y636N

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 possibly damaging
Transcript: ENSMUST00000051831
AA Change: Y636N

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: Y636N

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: Y636N

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: Y636N

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 benign
Transcript: ENSMUST00000136058
AA Change: Y636N

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: Y636N

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 possibly damaging
Transcript: ENSMUST00000170320
AA Change: Y636N

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: Y636N

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik C T 10: 28,862,225 (GRCm39) V22I probably benign Het
Abca8a A T 11: 109,929,225 (GRCm39) V1296D possibly damaging Het
Abca8b C T 11: 109,831,687 (GRCm39) S1328N probably damaging Het
Adcy1 G A 11: 7,111,914 (GRCm39) M926I probably damaging Het
Aff4 G T 11: 53,291,102 (GRCm39) M687I possibly damaging Het
Agtr1a A T 13: 30,565,567 (GRCm39) I211F probably damaging Het
Alkbh8 T G 9: 3,385,147 (GRCm39) S480A possibly damaging Het
Ankrd13b A T 11: 77,368,370 (GRCm39) V84E probably damaging Het
Ap3b1 C T 13: 94,664,704 (GRCm39) T881I unknown Het
Apbb1 A C 7: 105,208,453 (GRCm39) D617E probably damaging Het
Apobec4 A G 1: 152,633,033 (GRCm39) R354G probably benign Het
Brdt T G 5: 107,496,483 (GRCm39) C198W possibly damaging Het
Cacna1b G T 2: 24,569,370 (GRCm39) H851Q possibly damaging Het
Car2 G T 3: 14,963,115 (GRCm39) V217F possibly damaging Het
Ccdc24 A C 4: 117,727,077 (GRCm39) probably benign Het
Chodl C A 16: 78,738,203 (GRCm39) A57E probably damaging Het
Clgn G T 8: 84,136,167 (GRCm39) C185F probably damaging Het
Cltc G T 11: 86,596,068 (GRCm39) N1223K probably damaging Het
Cnot10 T C 9: 114,458,161 (GRCm39) N115S probably damaging Het
Col12a1 T C 9: 79,606,603 (GRCm39) R607G probably damaging Het
Cpd A G 11: 76,690,651 (GRCm39) V835A probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Csmd3 G C 15: 48,485,447 (GRCm39) L153V probably damaging Het
Ctr9 A G 7: 110,643,209 (GRCm39) H527R probably benign Het
Cwc22 G A 2: 77,759,787 (GRCm39) R87W probably damaging Het
D930020B18Rik T A 10: 121,505,106 (GRCm39) N107K probably benign Het
Dgkg C A 16: 22,388,921 (GRCm39) V418L probably benign Het
Dhx40 A G 11: 86,691,789 (GRCm39) probably null Het
Diaph1 A T 18: 37,989,004 (GRCm39) M910K probably damaging Het
Diras2 T A 13: 52,661,711 (GRCm39) M199L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock5 T A 14: 68,015,052 (GRCm39) Q1302H probably benign Het
Dync1i2 T C 2: 71,058,967 (GRCm39) S90P probably benign Het
E2f8 A T 7: 48,516,943 (GRCm39) V812E probably damaging Het
Egfem1 C A 3: 29,744,323 (GRCm39) Q521K probably damaging Het
Fbxl18 A T 5: 142,864,475 (GRCm39) C699* probably null Het
Fgf3 C T 7: 144,392,520 (GRCm39) R26* probably null Het
Fpr-rs7 T G 17: 20,334,365 (GRCm39) I42L probably benign Het
Gm3159 T A 14: 4,398,582 (GRCm38) M91K probably damaging Het
Gprin3 A G 6: 59,330,877 (GRCm39) S477P possibly damaging Het
Grm8 A T 6: 27,761,203 (GRCm39) probably null Het
Hepacam2 A T 6: 3,466,142 (GRCm39) D420E probably damaging Het
Hmcn1 A T 1: 150,485,529 (GRCm39) W4358R probably benign Het
Ifna6 G A 4: 88,745,956 (GRCm39) A102T probably benign Het
Ighv2-2 T C 12: 113,552,142 (GRCm39) Q32R probably benign Het
Igkv1-131 T A 6: 67,743,242 (GRCm39) Q47L possibly damaging Het
Il16 T C 7: 83,323,761 (GRCm39) E263G probably damaging Het
Kansl1 A T 11: 104,225,974 (GRCm39) C981S probably benign Het
Lrp1 A T 10: 127,410,298 (GRCm39) F1483I probably damaging Het
Ltf T C 9: 110,849,980 (GRCm39) M1T probably null Het
Ly75 C T 2: 60,129,426 (GRCm39) R1653H probably benign Het
Macrod2 T C 2: 142,018,587 (GRCm39) F240S probably damaging Het
Man1c1 T C 4: 134,296,371 (GRCm39) E433G probably damaging Het
Mansc4 A T 6: 146,983,047 (GRCm39) M130K probably benign Het
Mccc1 C T 3: 36,044,197 (GRCm39) probably null Het
Mink1 G T 11: 70,495,991 (GRCm39) R75L possibly damaging Het
Mst1 A G 9: 107,958,485 (GRCm39) D65G probably damaging Het
Myo9b C T 8: 71,796,330 (GRCm39) A857V probably damaging Het
Ndufa4 A G 6: 11,900,574 (GRCm39) V70A probably benign Het
Npat T A 9: 53,466,400 (GRCm39) S230T probably benign Het
Nr1d1 A G 11: 98,662,134 (GRCm39) Y167H probably damaging Het
Oca2 A G 7: 56,064,210 (GRCm39) D735G probably damaging Het
Odr4 G A 1: 150,250,588 (GRCm39) L319F probably damaging Het
Or2a7 T C 6: 43,151,265 (GRCm39) V115A probably benign Het
Or2b2 C T 13: 21,887,393 (GRCm39) T74I probably benign Het
Or2y13 A G 11: 49,414,771 (GRCm39) T74A probably damaging Het
Or7g20 T A 9: 18,946,854 (GRCm39) I145N possibly damaging Het
Otop1 A G 5: 38,457,507 (GRCm39) Y422C probably damaging Het
Pde4dip G A 3: 97,748,964 (GRCm39) R126* probably null Het
Pdp2 C T 8: 105,321,320 (GRCm39) P390S probably damaging Het
Pds5b A T 5: 150,639,926 (GRCm39) T14S possibly damaging Het
Pfkp T C 13: 6,638,631 (GRCm39) E580G probably damaging Het
Piezo2 A T 18: 63,250,767 (GRCm39) L212Q possibly damaging Het
Piezo2 G C 18: 63,250,768 (GRCm39) L444V probably benign Het
Pla2g4d T A 2: 120,109,429 (GRCm39) T207S possibly damaging Het
Plk2 C A 13: 110,535,591 (GRCm39) T471K possibly damaging Het
Potefam1 T C 2: 111,041,910 (GRCm39) T342A probably benign Het
Potegl T A 2: 23,102,730 (GRCm39) L156Q probably damaging Het
Ppp1r3g G A 13: 36,153,245 (GRCm39) E222K probably damaging Het
Pramel28 A T 4: 143,691,708 (GRCm39) D338E possibly damaging Het
Prkcg A G 7: 3,371,974 (GRCm39) D480G probably damaging Het
Pxdc1 T A 13: 34,836,178 (GRCm39) T81S probably benign Het
Rnf150 A T 8: 83,730,228 (GRCm39) K253* probably null Het
Sae1 T C 7: 16,104,387 (GRCm39) probably null Het
Scin C T 12: 40,113,258 (GRCm39) D538N probably damaging Het
Serpinb3c C A 1: 107,199,533 (GRCm39) K329N probably damaging Het
Sgo2b T A 8: 64,380,008 (GRCm39) K941N possibly damaging Het
Six1 C T 12: 73,093,058 (GRCm39) S48N possibly damaging Het
Slc39a8 G A 3: 135,590,449 (GRCm39) G381R probably damaging Het
Slc9b1 A G 3: 135,063,320 (GRCm39) K35E unknown Het
Srek1 C T 13: 103,895,752 (GRCm39) A274T probably damaging Het
Steap2 A T 5: 5,727,497 (GRCm39) Y279* probably null Het
Svil T A 18: 5,046,823 (GRCm39) L110* probably null Het
Syncrip T C 9: 88,338,762 (GRCm39) probably benign Het
Tcf20 A G 15: 82,737,443 (GRCm39) I1336T probably benign Het
Tecpr1 T A 5: 144,155,451 (GRCm39) K36* probably null Het
Tenm2 A G 11: 36,032,510 (GRCm39) V670A probably damaging Het
Thbd G A 2: 148,249,286 (GRCm39) T194I probably damaging Het
Tm9sf2 A T 14: 122,389,374 (GRCm39) probably null Het
Tmtc4 A T 14: 123,187,911 (GRCm39) I225N probably damaging Het
Tpp1 C T 7: 105,396,743 (GRCm39) V425M probably damaging Het
Trbc2 T A 6: 41,524,746 (GRCm39) Y144* probably null Het
Trps1 T C 15: 50,709,504 (GRCm39) D282G probably damaging Het
Tsc22d4 T A 5: 137,745,404 (GRCm39) S9R probably damaging Het
Upp1 T A 11: 9,086,025 (GRCm39) D287E probably benign Het
Uso1 A C 5: 92,349,158 (GRCm39) Q916H probably damaging Het
Uty T A Y: 1,134,902 (GRCm39) Y884F probably damaging Het
Vmn1r222 T C 13: 23,416,950 (GRCm39) R88G probably damaging Het
Vmn1r79 T C 7: 11,910,928 (GRCm39) V270A possibly damaging Het
Zbtb22 T C 17: 34,136,709 (GRCm39) S285P probably benign Het
Zfp385a A G 15: 103,226,492 (GRCm39) V82A probably damaging Het
Zfp59 T C 7: 27,553,594 (GRCm39) F349L probably benign Het
Zfp780b T G 7: 27,662,224 (GRCm39) H777P probably benign Het
Zfp82 T C 7: 29,756,549 (GRCm39) T178A probably benign Het
Zfp850 T C 7: 27,688,513 (GRCm39) Y565C probably damaging Het
Zfp957 A G 14: 79,450,207 (GRCm39) Y531H 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
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'- TTGGCTAAAACTAACCCTGCCC -3'
(R):5'- TGGGACATGAACATGCTCTG -3'

Sequencing Primer
(F):5'- CTCTGCGCTAGTGGATGC -3'
(R):5'- GGGATACAGTAGCACCTTGTCTC -3'
Posted On 2017-12-01