Incidental Mutation 'R8248:Agbl2'
ID |
640358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
067675-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8248 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (60/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
C |
16: 19,702,556 (GRCm39) |
D24G |
noncoding transcript |
Het |
Adam32 |
A |
G |
8: 25,391,486 (GRCm39) |
S343P |
possibly damaging |
Het |
Ahi1 |
T |
A |
10: 20,847,991 (GRCm39) |
D466E |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,979,310 (GRCm39) |
V198E |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,731,434 (GRCm39) |
H658L |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,366,072 (GRCm39) |
I781N |
probably damaging |
Het |
Bloc1s6 |
A |
T |
2: 122,584,565 (GRCm39) |
R47* |
probably null |
Het |
Clk2 |
G |
A |
3: 89,080,811 (GRCm39) |
V266M |
probably damaging |
Het |
Cul9 |
A |
C |
17: 46,840,940 (GRCm39) |
Y777D |
probably damaging |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Dcp1a |
C |
T |
14: 30,201,555 (GRCm39) |
|
probably benign |
Het |
Dnajb2 |
T |
G |
1: 75,220,226 (GRCm39) |
D248E |
|
Het |
Dpy19l1 |
T |
C |
9: 24,414,191 (GRCm39) |
H79R |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,784,371 (GRCm39) |
S643P |
probably damaging |
Het |
Evi5 |
A |
G |
5: 107,966,753 (GRCm39) |
|
probably null |
Het |
Fam76b |
T |
C |
9: 13,742,398 (GRCm39) |
C110R |
probably damaging |
Het |
Galnt7 |
T |
A |
8: 57,991,222 (GRCm39) |
K429N |
probably benign |
Het |
Gm10142 |
T |
A |
10: 77,551,950 (GRCm39) |
C104S |
probably damaging |
Het |
Gm7298 |
A |
C |
6: 121,764,402 (GRCm39) |
H1427P |
probably benign |
Het |
Golga7b |
A |
T |
19: 42,255,310 (GRCm39) |
I87F |
probably damaging |
Het |
Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
Gpr25 |
C |
A |
1: 136,188,415 (GRCm39) |
R66L |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,563,841 (GRCm39) |
N241D |
probably benign |
Het |
Il1a |
T |
C |
2: 129,144,881 (GRCm39) |
D179G |
probably benign |
Het |
Itch |
T |
C |
2: 155,048,303 (GRCm39) |
|
probably null |
Het |
Itsn2 |
T |
C |
12: 4,712,052 (GRCm39) |
V913A |
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,225,354 (GRCm39) |
|
probably benign |
Het |
Lama4 |
T |
C |
10: 38,937,375 (GRCm39) |
I655T |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,581,667 (GRCm39) |
S817R |
probably damaging |
Het |
Lrrc8c |
A |
T |
5: 105,755,733 (GRCm39) |
M503L |
probably benign |
Het |
Mast4 |
T |
C |
13: 102,875,229 (GRCm39) |
T1380A |
probably damaging |
Het |
Mfap1a |
G |
T |
2: 121,336,976 (GRCm39) |
T16K |
possibly damaging |
Het |
Mroh2b |
C |
T |
15: 4,960,586 (GRCm39) |
T773I |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nudt7 |
A |
G |
8: 114,878,737 (GRCm39) |
Y255C |
probably benign |
Het |
Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
Pkhd1l1 |
T |
G |
15: 44,406,942 (GRCm39) |
I2393R |
probably damaging |
Het |
Pmm1 |
A |
C |
15: 81,844,932 (GRCm39) |
L24R |
possibly damaging |
Het |
Pram1 |
T |
C |
17: 33,860,138 (GRCm39) |
V235A |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,330,877 (GRCm39) |
T599A |
unknown |
Het |
Prpf40b |
A |
G |
15: 99,214,166 (GRCm39) |
K812E |
unknown |
Het |
Qars1 |
G |
A |
9: 108,386,651 (GRCm39) |
A155T |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,184,478 (GRCm39) |
|
probably benign |
Het |
Rom1 |
T |
A |
19: 8,906,045 (GRCm39) |
R165W |
probably damaging |
Het |
Rps6kb2 |
T |
A |
19: 4,206,987 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,768,546 (GRCm39) |
W2808R |
probably damaging |
Het |
Sh3gl1 |
A |
G |
17: 56,326,038 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
A |
T |
19: 8,347,563 (GRCm39) |
M279K |
probably benign |
Het |
Snx11 |
A |
G |
11: 96,660,759 (GRCm39) |
S184P |
unknown |
Het |
Srgap1 |
A |
G |
10: 121,640,722 (GRCm39) |
C692R |
probably damaging |
Het |
Srgap3 |
T |
C |
6: 112,700,104 (GRCm39) |
N982S |
probably damaging |
Het |
Stac |
T |
A |
9: 111,422,813 (GRCm39) |
D270V |
probably benign |
Het |
Syn3 |
T |
A |
10: 85,970,885 (GRCm39) |
I246F |
probably benign |
Het |
Tnr |
T |
C |
1: 159,719,663 (GRCm39) |
V980A |
probably damaging |
Het |
Usp17le |
G |
T |
7: 104,419,001 (GRCm39) |
A47E |
possibly damaging |
Het |
Vmn2r118 |
T |
C |
17: 55,917,936 (GRCm39) |
N192S |
probably benign |
Het |
Zmym4 |
C |
A |
4: 126,799,162 (GRCm39) |
V725L |
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 |
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'- TTCTGAGTGGAGCATTAGCCTC -3'
(R):5'- ACGGATCCAACTTTTAAGTGATCTC -3'
Sequencing Primer
(F):5'- GGAGCATTAGCCTCATGGTATC -3'
(R):5'- CACCCATCTTTTGCAGACA -3'
|
Posted On |
2020-07-28 |