Incidental Mutation 'R7833:Agbl2'
ID |
605758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
045887-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7833 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90645777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 837
(K837E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037206]
[ENSMUST00000037219]
[ENSMUST00000051831]
[ENSMUST00000111481]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
AlphaFold |
Q8CDK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037206
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812
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 benign
Transcript: ENSMUST00000037219
AA Change: K837E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: K837E
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 benign
Transcript: ENSMUST00000051831
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812
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 benign
Transcript: ENSMUST00000111481
AA Change: K837E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: K837E
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 benign
Transcript: ENSMUST00000136058
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812
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 benign
Transcript: ENSMUST00000170320
AA Change: K837E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: K837E
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (71/71) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
A |
T |
14: 54,902,059 (GRCm39) |
S578T |
possibly damaging |
Het |
Acot5 |
A |
G |
12: 84,122,601 (GRCm39) |
Q395R |
probably damaging |
Het |
Adamts15 |
T |
A |
9: 30,833,401 (GRCm39) |
T45S |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,684,229 (GRCm39) |
T19A |
possibly damaging |
Het |
Atp6v0a2 |
T |
C |
5: 124,782,969 (GRCm39) |
V238A |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,516,777 (GRCm39) |
V430E |
probably benign |
Het |
Cachd1 |
G |
A |
4: 100,832,012 (GRCm39) |
V725I |
probably benign |
Het |
Ccnb1 |
G |
A |
13: 100,917,859 (GRCm39) |
T247M |
probably damaging |
Het |
Cd40 |
A |
T |
2: 164,908,431 (GRCm39) |
D169V |
probably benign |
Het |
Cdc25c |
G |
A |
18: 34,880,296 (GRCm39) |
T146I |
probably benign |
Het |
Cdhr18 |
A |
T |
14: 13,896,968 (GRCm38) |
|
probably null |
Het |
Ceacam3 |
C |
A |
7: 16,893,778 (GRCm39) |
Q430K |
|
Het |
Cerkl |
G |
A |
2: 79,171,724 (GRCm39) |
T378I |
probably benign |
Het |
Cpn2 |
G |
T |
16: 30,079,163 (GRCm39) |
N179K |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,154,869 (GRCm39) |
D418G |
probably damaging |
Het |
Eif1ad13 |
G |
A |
12: 87,762,322 (GRCm39) |
R14K |
unknown |
Het |
Eps8l1 |
C |
A |
7: 4,471,866 (GRCm39) |
P11T |
possibly damaging |
Het |
Erc1 |
C |
T |
6: 119,801,447 (GRCm39) |
W190* |
probably null |
Het |
Exosc7 |
A |
T |
9: 122,959,984 (GRCm39) |
E195V |
probably benign |
Het |
F2rl2 |
A |
G |
13: 95,837,426 (GRCm39) |
N157S |
probably damaging |
Het |
Fgd2 |
T |
C |
17: 29,586,369 (GRCm39) |
L270P |
possibly damaging |
Het |
Fitm2 |
A |
T |
2: 163,312,019 (GRCm39) |
W65R |
probably damaging |
Het |
Gabbr1 |
T |
G |
17: 37,367,861 (GRCm39) |
I437S |
possibly damaging |
Het |
Galntl6 |
A |
T |
8: 58,310,571 (GRCm39) |
S377T |
probably benign |
Het |
Gml2 |
T |
A |
15: 74,693,217 (GRCm39) |
C73* |
probably null |
Het |
Htr6 |
G |
T |
4: 138,789,142 (GRCm39) |
F304L |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,316,092 (GRCm39) |
G4328D |
probably damaging |
Het |
Kcnj14 |
T |
C |
7: 45,467,317 (GRCm39) |
D343G |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,329,942 (GRCm39) |
I357N |
probably benign |
Het |
Lcor |
A |
G |
19: 41,573,024 (GRCm39) |
D593G |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,973,746 (GRCm39) |
T341A |
probably damaging |
Het |
Mrm1 |
A |
C |
11: 84,709,469 (GRCm39) |
V196G |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,333,727 (GRCm39) |
|
probably null |
Het |
Myo19 |
G |
A |
11: 84,800,093 (GRCm39) |
C826Y |
probably benign |
Het |
Nbea |
A |
G |
3: 55,910,218 (GRCm39) |
W1326R |
probably damaging |
Het |
Notch1 |
A |
G |
2: 26,349,545 (GRCm39) |
*2532Q |
probably null |
Het |
Npas2 |
A |
G |
1: 39,365,228 (GRCm39) |
Y287C |
probably damaging |
Het |
Or3a1b |
G |
A |
11: 74,012,663 (GRCm39) |
D183N |
probably damaging |
Het |
Or9g20 |
T |
A |
2: 85,630,293 (GRCm39) |
D107V |
probably benign |
Het |
Pate7 |
T |
A |
9: 35,688,406 (GRCm39) |
S60C |
probably damaging |
Het |
Pcdhga7 |
C |
A |
18: 37,849,077 (GRCm39) |
D361E |
possibly damaging |
Het |
Pde10a |
T |
A |
17: 9,180,752 (GRCm39) |
Y447N |
possibly damaging |
Het |
Piwil2 |
T |
A |
14: 70,632,890 (GRCm39) |
I561F |
probably benign |
Het |
Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
Ppp4r4 |
A |
G |
12: 103,564,407 (GRCm39) |
T591A |
probably benign |
Het |
Prxl2c |
T |
C |
13: 64,460,092 (GRCm39) |
S84G |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,151,156 (GRCm39) |
T273A |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,393,861 (GRCm39) |
L843* |
probably null |
Het |
Qrfpr |
T |
C |
3: 36,243,751 (GRCm39) |
I117V |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,346,591 (GRCm39) |
D1411G |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,506,656 (GRCm39) |
S193P |
probably benign |
Het |
Raver1 |
T |
C |
9: 20,992,610 (GRCm39) |
E273G |
probably benign |
Het |
Rubcn |
C |
A |
16: 32,688,644 (GRCm39) |
|
probably benign |
Het |
S1pr4 |
C |
T |
10: 81,334,326 (GRCm39) |
V383I |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,506,494 (GRCm39) |
D1465G |
probably damaging |
Het |
Smarca4 |
T |
A |
9: 21,558,655 (GRCm39) |
D607E |
possibly damaging |
Het |
Srbd1 |
T |
A |
17: 86,292,882 (GRCm39) |
I896L |
possibly damaging |
Het |
Sulf2 |
G |
T |
2: 165,921,456 (GRCm39) |
N722K |
possibly damaging |
Het |
Surf1 |
A |
G |
2: 26,806,280 (GRCm39) |
Y22H |
probably benign |
Het |
Syngr2 |
A |
G |
11: 117,703,982 (GRCm39) |
T150A |
probably benign |
Het |
Szt2 |
G |
T |
4: 118,223,416 (GRCm39) |
H3056N |
unknown |
Het |
Tmf1 |
A |
T |
6: 97,138,372 (GRCm39) |
S849T |
probably benign |
Het |
Tns1 |
T |
A |
1: 74,130,490 (GRCm39) |
|
probably benign |
Het |
Trio |
G |
T |
15: 27,774,172 (GRCm39) |
P1764Q |
probably damaging |
Het |
Trpc3 |
A |
T |
3: 36,694,821 (GRCm39) |
V711D |
probably damaging |
Het |
Ttll3 |
G |
T |
6: 113,386,298 (GRCm39) |
K710N |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,388,391 (GRCm39) |
S2132P |
possibly damaging |
Het |
Utp20 |
G |
A |
10: 88,636,998 (GRCm39) |
P738S |
possibly damaging |
Het |
Vmn2r76 |
C |
T |
7: 85,877,892 (GRCm39) |
V502I |
probably benign |
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
Wdr64 |
T |
G |
1: 175,591,511 (GRCm39) |
F390V |
probably damaging |
Het |
Ybx3 |
T |
G |
6: 131,344,826 (GRCm39) |
T341P |
possibly damaging |
Het |
Zdhhc11 |
C |
A |
13: 74,121,866 (GRCm39) |
Q126K |
possibly damaging |
Het |
Zfp777 |
G |
A |
6: 48,002,072 (GRCm39) |
P673S |
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 |
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 |
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'- TCACCTCTGCCCTGCAATAG -3'
(R):5'- CAGTGTGTGGTGAGTGTACAAC -3'
Sequencing Primer
(F):5'- CTGCCCTGCAATAGTGTTAATTG -3'
(R):5'- CCCATAAACTTTTCAGGAGGGCTG -3'
|
Posted On |
2019-12-20 |