Incidental Mutation 'R3115:Agbl2'
| ID |
263961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl2
|
| Ensembl Gene |
ENSMUSG00000040812 |
| Gene Name |
ATP/GTP binding protein-like 2 |
| Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
| MMRRC Submission |
040588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90636245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 594
(S594P)
|
| 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: S594P
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: S594P
| 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: S594P
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: S594P
| 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: S594P
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: S594P
| 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: S594P
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: S594P
| 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 |
possibly damaging
Transcript: ENSMUST00000136058
AA Change: S594P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: S594P
| 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: S594P
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: S594P
| 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 |
|
| Meta Mutation Damage Score |
0.3193 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| 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 |
|---|
| Abcc12 |
A |
G |
8: 87,266,653 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,634,755 (GRCm39) |
T170A |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cacng7 |
T |
C |
7: 3,387,450 (GRCm39) |
V111A |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,757,705 (GRCm39) |
T38A |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Dcx |
A |
G |
X: 142,706,105 (GRCm39) |
Y229H |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Glul |
T |
C |
1: 153,783,038 (GRCm39) |
F204L |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,901 (GRCm39) |
Y43F |
possibly damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,118 (GRCm39) |
L440P |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,383,070 (GRCm39) |
D1466G |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,049,942 (GRCm39) |
S257P |
probably damaging |
Het |
| Knl1 |
C |
A |
2: 118,900,872 (GRCm39) |
L858M |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,006,294 (GRCm39) |
R1277Q |
probably benign |
Het |
| Mgp |
A |
C |
6: 136,849,683 (GRCm39) |
Y92D |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,835,208 (GRCm39) |
H521R |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,656,229 (GRCm39) |
|
probably null |
Het |
| Mybph |
A |
G |
1: 134,122,476 (GRCm39) |
I174V |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,661,959 (GRCm39) |
T347M |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,504 (GRCm38) |
|
probably null |
Het |
| Or10g3 |
T |
C |
14: 52,610,397 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
| Prdx4 |
C |
T |
X: 154,113,407 (GRCm39) |
R167Q |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Prph |
T |
A |
15: 98,953,337 (GRCm39) |
F84I |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb13 |
A |
T |
1: 106,910,568 (GRCm39) |
E64V |
probably null |
Het |
| Slc12a4 |
A |
T |
8: 106,686,091 (GRCm39) |
S81T |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,258,506 (GRCm39) |
L179P |
possibly damaging |
Het |
| Sp140l2 |
C |
G |
1: 85,235,106 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
C |
1: 28,815,410 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sycp2l |
C |
A |
13: 41,302,274 (GRCm39) |
T456K |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,914,193 (GRCm39) |
L2447P |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,506,900 (GRCm39) |
C614R |
probably damaging |
Het |
| Usp5 |
T |
C |
6: 124,792,560 (GRCm39) |
Y826C |
probably damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,272,866 (GRCm39) |
D560A |
probably damaging |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp81 |
C |
T |
17: 33,553,537 (GRCm39) |
A426T |
possibly damaging |
Het |
| Zscan22 |
T |
C |
7: 12,641,217 (GRCm39) |
I328T |
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 |
|
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 |
|
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'- TCGAAGCTCCCAAAGAACCATT -3'
(R):5'- TATGGTGGGTGCTGCTTAGTAAA -3'
Sequencing Primer
(F):5'- ACTAACAGAATGCGGGTC -3'
(R):5'- GGAAGTCCAAACCTAATCTTCCTGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation