Incidental Mutation 'R0381:Agbl2'
ID |
30963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
038587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0381 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90614442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 25
(H25Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129216
(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
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000037206
AA Change: H25Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812 AA Change: H25Y
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: H25Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: H25Y
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: H25Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: H25Y
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: H25Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: H25Y
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: H25Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812 AA Change: H25Y
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: H25Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: H25Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149361
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149037
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,757,858 (GRCm39) |
V1297A |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,750,990 (GRCm39) |
W466R |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,213,890 (GRCm39) |
Q471L |
probably damaging |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
F13b |
A |
G |
1: 139,438,597 (GRCm39) |
K334E |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,840,055 (GRCm39) |
I2063R |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,353,767 (GRCm39) |
Y371H |
probably damaging |
Het |
Fnbp1 |
C |
T |
2: 30,923,041 (GRCm39) |
G549D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,794,067 (GRCm39) |
Y869H |
probably benign |
Het |
Gm7592 |
A |
G |
1: 85,454,437 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,479,562 (GRCm39) |
C4634Y |
probably damaging |
Het |
Kctd5 |
A |
G |
17: 24,278,194 (GRCm39) |
|
probably null |
Het |
Kics2 |
T |
C |
10: 121,581,280 (GRCm39) |
Y94H |
probably damaging |
Het |
Mettl24 |
C |
A |
10: 40,622,386 (GRCm39) |
H203N |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,970,104 (GRCm39) |
E17G |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,248,149 (GRCm39) |
W59R |
probably benign |
Het |
Mrc1 |
G |
A |
2: 14,312,720 (GRCm39) |
D881N |
probably benign |
Het |
Mrm1 |
T |
C |
11: 84,709,509 (GRCm39) |
T183A |
possibly damaging |
Het |
Mylk |
G |
A |
16: 34,605,344 (GRCm39) |
|
probably null |
Het |
Nab2 |
G |
A |
10: 127,500,936 (GRCm39) |
A19V |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,709,719 (GRCm39) |
Y333* |
probably null |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sypl2 |
T |
C |
3: 108,133,473 (GRCm39) |
E32G |
possibly damaging |
Het |
Tasp1 |
T |
C |
2: 139,793,403 (GRCm39) |
K258E |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,555,088 (GRCm39) |
V2561F |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,776,409 (GRCm39) |
Y650C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,979,062 (GRCm39) |
L103P |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,662,600 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
T |
A |
13: 22,659,193 (GRCm39) |
W136R |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,268,264 (GRCm39) |
Y68* |
probably null |
Het |
Wscd2 |
T |
A |
5: 113,689,192 (GRCm39) |
L66Q |
probably 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 |
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 |
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'- CGCCTACATCATACTATGCGGCAG -3'
(R):5'- ACCTTGACAGAGGTGGTTCCGTTC -3'
Sequencing Primer
(F):5'- tctcctcctacctctgcttc -3'
(R):5'- TACAACAGTTCAACCCGTGG -3'
|
Posted On |
2013-04-24 |