Incidental Mutation 'R9039:Agbl2'
ID |
687591 |
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 # |
R9039 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90645730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 821
(T821I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037206]
[ENSMUST00000037219]
[ENSMUST00000051831]
[ENSMUST00000111481]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
AlphaFold |
Q8CDK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037206
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812
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: T821I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: T821I
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
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812
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: T821I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: T821I
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 |
probably benign
Transcript: ENSMUST00000170320
AA Change: T821I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: T821I
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: 98.7%
|
Validation Efficiency |
100% (68/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,213,849 (GRCm39) |
V692A |
possibly damaging |
Het |
Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,345,914 (GRCm39) |
I321T |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,192 (GRCm39) |
L937P |
probably damaging |
Het |
Atp5f1b |
A |
G |
10: 127,919,767 (GRCm39) |
D45G |
probably benign |
Het |
C8a |
C |
T |
4: 104,679,200 (GRCm39) |
R530H |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,016,057 (GRCm39) |
S694P |
probably benign |
Het |
Cdca7 |
T |
A |
2: 72,312,856 (GRCm39) |
D162E |
probably benign |
Het |
Cep78 |
G |
T |
19: 15,936,907 (GRCm39) |
Q600K |
probably benign |
Het |
Cert1 |
C |
T |
13: 96,679,717 (GRCm39) |
P16S |
probably benign |
Het |
Coq8b |
A |
C |
7: 26,950,011 (GRCm39) |
R363S |
probably benign |
Het |
Cpne3 |
A |
T |
4: 19,540,770 (GRCm39) |
C202S |
probably damaging |
Het |
Csmd3 |
G |
T |
15: 47,483,308 (GRCm39) |
|
probably benign |
Het |
Cyp4a14 |
A |
T |
4: 115,344,461 (GRCm39) |
V468E |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,405,215 (GRCm39) |
D2442E |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,163,553 (GRCm39) |
Y49C |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,382,870 (GRCm39) |
R268G |
probably damaging |
Het |
Eid3 |
C |
T |
10: 82,703,565 (GRCm39) |
S342L |
possibly damaging |
Het |
Ezh2 |
A |
G |
6: 47,528,671 (GRCm39) |
L296P |
possibly damaging |
Het |
Fgfrl1 |
G |
C |
5: 108,853,439 (GRCm39) |
|
probably null |
Het |
Flg2 |
A |
G |
3: 93,110,899 (GRCm39) |
R976G |
unknown |
Het |
Fsip2 |
C |
A |
2: 82,828,545 (GRCm39) |
Q6781K |
probably benign |
Het |
Golga3 |
C |
T |
5: 110,352,799 (GRCm39) |
H857Y |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,244,646 (GRCm39) |
V701E |
probably damaging |
Het |
Il21 |
A |
T |
3: 37,286,602 (GRCm39) |
I38N |
probably benign |
Het |
Ip6k2 |
G |
T |
9: 108,681,807 (GRCm39) |
G246V |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,758,185 (GRCm39) |
Q726R |
probably damaging |
Het |
Itsn1 |
A |
T |
16: 91,703,658 (GRCm39) |
N1521Y |
unknown |
Het |
Kif2b |
A |
G |
11: 91,467,131 (GRCm39) |
V384A |
possibly damaging |
Het |
L3mbtl1 |
G |
T |
2: 162,807,988 (GRCm39) |
R541L |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,614,120 (GRCm39) |
C1296* |
probably null |
Het |
Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
Mmp27 |
C |
A |
9: 7,581,250 (GRCm39) |
F478L |
probably benign |
Het |
Moxd1 |
T |
A |
10: 24,155,251 (GRCm39) |
|
probably benign |
Het |
Naaa |
T |
A |
5: 92,420,300 (GRCm39) |
|
probably benign |
Het |
Nav1 |
T |
A |
1: 135,371,487 (GRCm39) |
Q1746L |
unknown |
Het |
Nedd9 |
T |
C |
13: 41,471,984 (GRCm39) |
Y165C |
probably damaging |
Het |
Neurod1 |
T |
C |
2: 79,284,720 (GRCm39) |
Y221C |
probably damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,545 (GRCm39) |
I47F |
probably damaging |
Het |
Or4c122 |
G |
T |
2: 89,079,545 (GRCm39) |
F152L |
probably benign |
Het |
Or5al6 |
T |
C |
2: 85,976,625 (GRCm39) |
Y151C |
probably damaging |
Het |
Or9m1 |
T |
C |
2: 87,733,907 (GRCm39) |
T38A |
probably damaging |
Het |
Orm3 |
A |
G |
4: 63,274,533 (GRCm39) |
N33D |
possibly damaging |
Het |
Ppp1r3a |
G |
A |
6: 14,754,525 (GRCm39) |
P241S |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,134,657 (GRCm39) |
T949A |
probably benign |
Het |
Prdx6 |
A |
T |
1: 161,078,619 (GRCm39) |
I23N |
probably damaging |
Het |
Prkd3 |
A |
T |
17: 79,280,003 (GRCm39) |
V334E |
probably benign |
Het |
Prr12 |
A |
T |
7: 44,684,146 (GRCm39) |
D1631E |
probably damaging |
Het |
Ptpn22 |
A |
G |
3: 103,819,551 (GRCm39) |
|
probably benign |
Het |
Pum2 |
T |
G |
12: 8,794,430 (GRCm39) |
D773E |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,856,648 (GRCm39) |
C451R |
probably benign |
Het |
Slc37a2 |
A |
G |
9: 37,148,658 (GRCm39) |
S275P |
probably benign |
Het |
Slmap |
G |
T |
14: 26,254,519 (GRCm39) |
N54K |
probably benign |
Het |
Susd4 |
A |
G |
1: 182,681,597 (GRCm39) |
D146G |
probably benign |
Het |
Tekt3 |
G |
A |
11: 62,972,169 (GRCm39) |
R275H |
possibly damaging |
Het |
Tkfc |
A |
G |
19: 10,573,612 (GRCm39) |
L242P |
probably damaging |
Het |
Tm9sf2 |
T |
A |
14: 122,363,576 (GRCm39) |
L99I |
probably benign |
Het |
Triqk |
A |
T |
4: 12,980,490 (GRCm39) |
D78V |
probably damaging |
Het |
Trmo |
T |
C |
4: 46,382,322 (GRCm39) |
D258G |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,826,489 (GRCm39) |
V920A |
probably benign |
Het |
Tspan17 |
C |
T |
13: 54,943,991 (GRCm39) |
Q257* |
probably null |
Het |
Tube1 |
T |
A |
10: 39,011,017 (GRCm39) |
F45I |
probably damaging |
Het |
Vmn1r4 |
A |
G |
6: 56,933,822 (GRCm39) |
T109A |
possibly damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,367,902 (GRCm39) |
Y363* |
probably null |
Het |
Zfp324 |
G |
T |
7: 12,705,455 (GRCm39) |
G548V |
probably benign |
Het |
Zpld2 |
C |
A |
4: 133,922,858 (GRCm39) |
V492F |
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 |
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 |
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'- ACCTCTACTTTGCTGAGAAACTAG -3'
(R):5'- ACCTTTGGAGGAAGCAGCTG -3'
Sequencing Primer
(F):5'- GCTGAGAAACTAGGTCAAATTCCTG -3'
(R):5'- CTGTGTGTCGCAGCAAGAG -3'
|
Posted On |
2021-11-19 |