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)
|
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
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 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
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: H23R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: H23R
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
AA Change: H23R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: H23R
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: H23R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: H23R
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
AA Change: H23R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812 AA Change: H23R
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: H23R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: H23R
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: 98.5%
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |