Incidental Mutation 'R4227:Agbl2'
ID |
320069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
041047-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4227 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 90631797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 385
(L385R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115632
(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: L385R
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812 AA Change: L385R
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: L385R
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: L385R
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 |
possibly damaging
Transcript: ENSMUST00000051831
AA Change: L385R
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: L385R
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: L385R
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: L385R
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 |
noncoding transcript
Transcript: ENSMUST00000118431
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136058
AA Change: L385R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812 AA Change: L385R
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: L385R
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: L385R
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
|
Meta Mutation Damage Score |
0.1181 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (56/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
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 |
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'- TACAACATCGGCTGGAGGAG -3'
(R):5'- CATCGGGAGAGTTGCTAAGG -3'
Sequencing Primer
(F):5'- GGGCCGTGAAATCAAGTACTAC -3'
(R):5'- GATGAAGTCCAAAAAGCCGTTC -3'
|
Posted On |
2015-06-12 |