Incidental Mutation 'R6195:Agbl2'
ID |
502832 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
044335-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6195 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90643657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 792
(D792E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037206]
[ENSMUST00000037219]
[ENSMUST00000051831]
[ENSMUST00000111481]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
AlphaFold |
Q8CDK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037206
AA Change: D792E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812 AA Change: D792E
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: D792E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: D792E
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: D792E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: D792E
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: D792E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: D792E
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 |
noncoding transcript
Transcript: ENSMUST00000149037
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170320
AA Change: D792E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: D792E
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: 98.8%
|
Validation Efficiency |
97% (76/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,142 (GRCm39) |
|
probably null |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,623 (GRCm39) |
V359I |
probably damaging |
Het |
Abtb1 |
T |
C |
6: 88,817,718 (GRCm39) |
E50G |
probably benign |
Het |
Aoc1 |
C |
A |
6: 48,885,611 (GRCm39) |
N705K |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Arhgef7 |
C |
T |
8: 11,872,017 (GRCm39) |
T701I |
probably damaging |
Het |
Atg10 |
G |
T |
13: 91,356,555 (GRCm39) |
|
probably null |
Het |
Atp5f1c |
T |
C |
2: 10,068,926 (GRCm39) |
I116M |
possibly damaging |
Het |
Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
Creb3 |
A |
G |
4: 43,566,346 (GRCm39) |
D260G |
probably benign |
Het |
Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,966,321 (GRCm39) |
K1097E |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
Dok3 |
T |
C |
13: 55,671,389 (GRCm39) |
N394S |
probably benign |
Het |
Dpcd |
A |
G |
19: 45,565,458 (GRCm39) |
D144G |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
Eif4e1b |
A |
G |
13: 54,932,018 (GRCm39) |
N34S |
probably null |
Het |
F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
Fan1 |
A |
T |
7: 64,004,119 (GRCm39) |
H782Q |
probably damaging |
Het |
Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
T |
C |
15: 58,509,806 (GRCm39) |
S1423P |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
Fxn |
G |
A |
19: 24,239,407 (GRCm39) |
R162C |
probably damaging |
Het |
Fxr2 |
C |
T |
11: 69,543,099 (GRCm39) |
T632M |
probably benign |
Het |
Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
Golga7b |
A |
T |
19: 42,251,886 (GRCm39) |
D44V |
probably benign |
Het |
Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,274,127 (GRCm39) |
S1416P |
probably damaging |
Het |
Hoxa11 |
G |
A |
6: 52,222,681 (GRCm39) |
R7C |
probably damaging |
Het |
Igkv14-126 |
A |
T |
6: 67,873,475 (GRCm39) |
T68S |
possibly damaging |
Het |
Insyn2a |
T |
C |
7: 134,520,377 (GRCm39) |
D51G |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,628,131 (GRCm39) |
S540P |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,643,077 (GRCm39) |
C34* |
probably null |
Het |
Lrrtm4 |
T |
C |
6: 79,998,939 (GRCm39) |
L117P |
probably damaging |
Het |
Mad2l1 |
G |
T |
6: 66,514,612 (GRCm39) |
G94C |
possibly damaging |
Het |
Malrd1 |
C |
A |
2: 15,700,137 (GRCm39) |
H661Q |
probably damaging |
Het |
Mical3 |
T |
A |
6: 120,993,796 (GRCm39) |
|
probably benign |
Het |
Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
Myof |
A |
G |
19: 37,901,805 (GRCm39) |
F997L |
possibly damaging |
Het |
Nagpa |
C |
T |
16: 5,021,613 (GRCm39) |
R46H |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
Or5ac23 |
A |
G |
16: 59,149,785 (GRCm39) |
V29A |
possibly damaging |
Het |
Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
Pcdhb7 |
G |
A |
18: 37,475,709 (GRCm39) |
V282I |
probably benign |
Het |
Pcnx4 |
A |
G |
12: 72,603,648 (GRCm39) |
D523G |
possibly damaging |
Het |
Pigx |
G |
A |
16: 31,903,404 (GRCm39) |
T219I |
probably damaging |
Het |
Plch1 |
G |
T |
3: 63,648,210 (GRCm39) |
P399Q |
probably damaging |
Het |
Pvrig-ps |
T |
A |
5: 138,340,537 (GRCm39) |
F74I |
possibly damaging |
Het |
Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
Serpina9 |
T |
A |
12: 103,967,666 (GRCm39) |
H243L |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tbc1d23 |
T |
C |
16: 57,051,713 (GRCm39) |
E6G |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
Tnrc18 |
T |
A |
5: 142,750,928 (GRCm39) |
K1217N |
unknown |
Het |
Trim33 |
G |
A |
3: 103,244,848 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 89,006,994 (GRCm39) |
D9E |
probably benign |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Zfp655 |
T |
A |
5: 145,180,572 (GRCm39) |
F143L |
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 |
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'- CTTGCCTCTTACAGGGCATTG -3'
(R):5'- CCATCCAGGAACACAATGTGTAAG -3'
Sequencing Primer
(F):5'- TTACAGGGCATTGTCCCCAG -3'
(R):5'- TCTATGAGGCCAGCCAGATCAG -3'
|
Posted On |
2018-02-27 |