Incidental Mutation 'R8250:Agbl2'
ID |
640269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
067676-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8250 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90627908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 238
(G238R)
|
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: G238R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812 AA Change: G238R
Domain | Start | End | E-Value | Type |
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: G238R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: G238R
Domain | Start | End | E-Value | Type |
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: G238R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: G238R
Domain | Start | End | E-Value | Type |
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: G238R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: G238R
Domain | Start | End | E-Value | Type |
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: G238R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812 AA Change: G238R
Domain | Start | End | E-Value | Type |
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: G238R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: G238R
Domain | Start | End | E-Value | Type |
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,260,846 (GRCm39) |
E1027V |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 36,971,811 (GRCm39) |
S515P |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,126,245 (GRCm39) |
D81E |
unknown |
Het |
Csrnp3 |
A |
G |
2: 65,852,562 (GRCm39) |
E330G |
probably damaging |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
Ftcd |
T |
G |
10: 76,417,461 (GRCm39) |
I300R |
probably damaging |
Het |
Fxr1 |
T |
A |
3: 34,101,178 (GRCm39) |
Y161* |
probably null |
Het |
Gabrg2 |
C |
T |
11: 41,858,379 (GRCm39) |
V250I |
probably benign |
Het |
Gmcl1 |
T |
C |
6: 86,698,384 (GRCm39) |
D171G |
possibly damaging |
Het |
Grk2 |
A |
G |
19: 4,339,962 (GRCm39) |
F375S |
probably damaging |
Het |
Kat2b |
T |
A |
17: 53,970,564 (GRCm39) |
I650N |
probably damaging |
Het |
Lhfpl6 |
T |
C |
3: 52,950,759 (GRCm39) |
I11T |
probably benign |
Het |
Mbtd1 |
A |
G |
11: 93,801,176 (GRCm39) |
Y141C |
probably damaging |
Het |
Mon1b |
A |
T |
8: 114,366,351 (GRCm39) |
E449V |
probably damaging |
Het |
Mrpl47 |
T |
C |
3: 32,785,382 (GRCm39) |
N112S |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,351,310 (GRCm39) |
N1895S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,879,318 (GRCm39) |
I693V |
probably benign |
Het |
Oip5 |
A |
G |
2: 119,446,110 (GRCm39) |
S133P |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,566 (GRCm39) |
I95V |
probably damaging |
Het |
Or10v1 |
A |
T |
19: 11,873,741 (GRCm39) |
M119L |
probably damaging |
Het |
Or52l1 |
T |
C |
7: 104,830,518 (GRCm39) |
M16V |
|
Het |
Or8k20 |
T |
C |
2: 86,106,498 (GRCm39) |
E111G |
probably damaging |
Het |
P2rx3 |
A |
C |
2: 84,852,735 (GRCm39) |
V221G |
probably damaging |
Het |
Prr27 |
A |
G |
5: 87,990,556 (GRCm39) |
N56S |
possibly damaging |
Het |
Psmd11 |
T |
C |
11: 80,336,752 (GRCm39) |
S135P |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Sall3 |
T |
C |
18: 81,016,743 (GRCm39) |
D395G |
probably benign |
Het |
Scube2 |
T |
C |
7: 109,463,377 (GRCm39) |
N62S |
probably benign |
Het |
Sema6a |
A |
T |
18: 47,423,182 (GRCm39) |
S275T |
probably damaging |
Het |
Sirpb1a |
A |
T |
3: 15,444,104 (GRCm39) |
L382Q |
possibly damaging |
Het |
Snrpn |
T |
A |
7: 59,636,633 (GRCm39) |
|
probably null |
Het |
Sox5 |
A |
T |
6: 144,100,777 (GRCm39) |
S71T |
possibly damaging |
Het |
Synpo2l |
G |
T |
14: 20,712,344 (GRCm39) |
T321K |
probably benign |
Het |
Tex15 |
G |
A |
8: 34,055,233 (GRCm39) |
E285K |
probably null |
Het |
Tmem126b |
G |
A |
7: 90,118,317 (GRCm39) |
L188F |
probably damaging |
Het |
Ttll2 |
T |
C |
17: 7,618,767 (GRCm39) |
T387A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,667,155 (GRCm39) |
Y11484H |
unknown |
Het |
Vmn2r76 |
T |
A |
7: 85,875,231 (GRCm39) |
Y582F |
possibly damaging |
Het |
Zfp786 |
A |
T |
6: 47,797,729 (GRCm39) |
L403Q |
possibly damaging |
Het |
|
Other mutations in Agbl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- GAGTGGAGCATTAGCCTCATGG -3'
(R):5'- ACGGATCCAACTTTTAAGTGATCTC -3'
Sequencing Primer
(F):5'- GGAGCATTAGCCTCATGGTATCTTTC -3'
(R):5'- CACCCATCTTTTGCAGACA -3'
|
Posted On |
2020-07-28 |