Incidental Mutation 'R9475:Agbl2'
ID 715683
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 # R9475 (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 90614437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 23 (H23R)
Ref Sequence ENSEMBL: ENSMUSP00000048647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013759] [ENSMUST00000037206] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000111481] [ENSMUST00000136058] [ENSMUST00000170320]
AlphaFold Q8CDK2
Predicted Effect probably benign
Transcript: ENSMUST00000013759
SMART Domains Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200

DomainStartEndE-ValueType
low complexity region 65 140 N/A INTRINSIC
low complexity region 165 175 N/A INTRINSIC
low complexity region 204 235 N/A INTRINSIC
WW 265 298 3.58e-5 SMART
low complexity region 372 381 N/A INTRINSIC
low complexity region 386 393 N/A INTRINSIC
low complexity region 404 416 N/A INTRINSIC
coiled coil region 442 478 N/A INTRINSIC
low complexity region 515 533 N/A INTRINSIC
WW 650 683 1.77e-9 SMART
low complexity region 757 788 N/A INTRINSIC
low complexity region 891 909 N/A INTRINSIC
low complexity region 955 1002 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037206
AA Change: H23R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: H23R

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: H23R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: H23R

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: H23R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: H23R

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: H23R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: H23R

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: H23R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: H23R

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: H23R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: H23R

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: 98.5%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,665,892 (GRCm39) W243R probably damaging Het
Ablim1 T G 19: 57,227,612 (GRCm39) K18Q probably benign Het
Adamts18 T A 8: 114,504,570 (GRCm39) N174Y possibly damaging Het
Afg2a T C 3: 37,486,058 (GRCm39) V260A probably benign Het
Akap6 T G 12: 53,057,335 (GRCm39) Y934D probably damaging Het
Alas1 C T 9: 106,111,261 (GRCm39) S635N probably benign Het
Ankrd24 A G 10: 81,478,133 (GRCm39) probably null Het
Atp6v0a4 A G 6: 38,037,917 (GRCm39) L560P probably damaging Het
Cacng1 C T 11: 107,607,118 (GRCm39) V34M possibly damaging Het
Clcn3 C T 8: 61,387,551 (GRCm39) A233T probably damaging Het
Cntnap3 A G 13: 64,946,949 (GRCm39) F160S probably damaging Het
Ctnnd2 A G 15: 30,881,276 (GRCm39) S719G probably damaging Het
Exosc2 G A 2: 31,564,755 (GRCm39) V107I probably benign Het
Fam83b C A 9: 76,399,085 (GRCm39) V673F probably benign Het
Fras1 T C 5: 96,927,929 (GRCm39) F3781L probably damaging Het
Gal3st1 T A 11: 3,948,660 (GRCm39) L289H probably damaging Het
Garem1 T C 18: 21,281,370 (GRCm39) I329V probably benign Het
Gli3 G A 13: 15,900,296 (GRCm39) G1228S possibly damaging Het
Gpbp1l1 T C 4: 116,431,558 (GRCm39) F72S possibly damaging Het
Hao1 T A 2: 134,390,181 (GRCm39) M53L probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,083 (GRCm39) E347G probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnrg A G 14: 61,845,106 (GRCm39) I49V possibly damaging Het
Lrrc8e G A 8: 4,285,346 (GRCm39) G524S probably benign Het
Lrrn1 A T 6: 107,545,261 (GRCm39) Y353F probably damaging Het
Mdn1 A G 4: 32,739,849 (GRCm39) D3701G possibly damaging Het
Mtmr2 A G 9: 13,716,767 (GRCm39) T623A probably benign Het
Ndst4 C A 3: 125,508,296 (GRCm39) S287* probably null Het
Ntrk3 A C 7: 77,952,480 (GRCm39) M579R probably benign Het
Oas1a G A 5: 121,037,317 (GRCm39) L237F probably damaging Het
Or2aj4 T C 16: 19,385,270 (GRCm39) D121G probably benign Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Het
Or7e166 T C 9: 19,624,939 (GRCm39) M272T probably benign Het
Paqr5 T A 9: 61,863,507 (GRCm39) I272F probably damaging Het
Pcdha11 T A 18: 37,140,591 (GRCm39) V740E probably damaging Het
Pdgfra A C 5: 75,328,588 (GRCm39) N240T possibly damaging Het
Plbd2 G A 5: 120,632,445 (GRCm39) Q186* probably null Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Ppargc1a C A 5: 51,653,080 (GRCm39) G161C probably damaging Het
Ptprk T C 10: 28,210,476 (GRCm39) I166T possibly damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Rpap2 T A 5: 107,768,455 (GRCm39) L431Q probably damaging Het
Rslcan18 T A 13: 67,250,128 (GRCm39) K160* probably null Het
Sema7a T C 9: 57,862,188 (GRCm39) F180L probably benign Het
Sh2d3c C T 2: 32,643,039 (GRCm39) L741F probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skic2 A T 17: 35,060,078 (GRCm39) D897E probably benign Het
Skint6 C T 4: 112,664,037 (GRCm39) probably null Het
Slc35f3 T C 8: 127,108,993 (GRCm39) S181P probably damaging Het
Slc4a9 A T 18: 36,662,269 (GRCm39) E127V probably null Het
Speg C T 1: 75,364,735 (GRCm39) T372I probably damaging Het
Syce1l A G 8: 114,381,735 (GRCm39) T204A probably benign Het
Tas2r138 T A 6: 40,589,392 (GRCm39) M285L probably benign Het
Tbc1d10a G C 11: 4,163,604 (GRCm39) K285N probably damaging Het
Trim9 T A 12: 70,393,228 (GRCm39) M239L probably benign Het
Trp53bp1 A G 2: 121,039,761 (GRCm39) S1293P probably benign Het
Uaca C T 9: 60,779,498 (GRCm39) T1295M possibly damaging Het
Ubald1 G T 16: 4,693,433 (GRCm39) Q161K possibly damaging Het
Ugt1a10 C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Vps45 T G 3: 95,950,237 (GRCm39) T231P probably damaging Het
Wdr17 A T 8: 55,088,512 (GRCm39) D1186E probably benign Het
Zfp534 G A 4: 147,766,731 (GRCm39) T8I probably benign Het
Zfp68 T C 5: 138,605,517 (GRCm39) N269D 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
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
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'- AGAAGGTTCACTGTGGTGGC -3'
(R):5'- CAGAGGTGGTTCCGTTCAATTG -3'

Sequencing Primer
(F):5'- GAGTACTAGTGTTTGCCACCAGAC -3'
(R):5'- TCCGTTCAATTGGGAGTAGGAAGC -3'
Posted On 2022-06-15