Incidental Mutation 'R4903:Agbl2'
| ID |
377926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl2
|
| Ensembl Gene |
ENSMUSG00000040812 |
| Gene Name |
ATP/GTP binding protein-like 2 |
| Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
| MMRRC Submission |
042506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4903 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90627817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 207
(I207M)
|
| 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: I207M
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: I207M
| 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: I207M
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: I207M
| 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: I207M
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: I207M
| 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: I207M
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: I207M
| 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: ENSMUST00000136058
AA Change: I207M
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: I207M
| 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 |
noncoding transcript
Transcript: ENSMUST00000149361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170320
AA Change: I207M
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: I207M
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
| Abca9 |
A |
G |
11: 110,037,827 (GRCm39) |
Y508H |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,546,691 (GRCm39) |
L1347H |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,747,080 (GRCm39) |
N166D |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,276,248 (GRCm39) |
Y473C |
probably damaging |
Het |
| Akna |
C |
A |
4: 63,292,274 (GRCm39) |
R1130S |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,698,743 (GRCm39) |
I194N |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,176,558 (GRCm39) |
H1582L |
probably damaging |
Het |
| Atn1 |
G |
C |
6: 124,720,220 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
T |
C |
16: 8,478,864 (GRCm39) |
T130A |
probably damaging |
Het |
| Chrna3 |
T |
C |
9: 54,922,810 (GRCm39) |
T333A |
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,310,945 (GRCm39) |
I34L |
probably benign |
Het |
| Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
| Dars2 |
G |
C |
1: 160,878,941 (GRCm39) |
P362R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,894,812 (GRCm39) |
E3459G |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,771,437 (GRCm39) |
D188N |
probably benign |
Het |
| Ece2 |
C |
T |
16: 20,449,972 (GRCm39) |
R189* |
probably null |
Het |
| Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,163 (GRCm39) |
I51N |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,418,413 (GRCm39) |
I603V |
probably benign |
Het |
| Gm11564 |
A |
C |
11: 99,705,858 (GRCm39) |
C191G |
unknown |
Het |
| Gpatch8 |
A |
G |
11: 102,370,959 (GRCm39) |
S860P |
unknown |
Het |
| Gprin1 |
C |
G |
13: 54,885,742 (GRCm39) |
W844S |
probably damaging |
Het |
| Hhipl2 |
T |
A |
1: 183,207,698 (GRCm39) |
Y252* |
probably null |
Het |
| Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
| Hrg |
A |
G |
16: 22,779,901 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
C |
T |
8: 72,947,372 (GRCm39) |
A23V |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,252,436 (GRCm39) |
S129G |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,949,456 (GRCm39) |
E1579K |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,049,789 (GRCm39) |
I579N |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,832,482 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
C |
A |
9: 57,046,240 (GRCm39) |
Q465K |
probably benign |
Het |
| Map3k5 |
T |
A |
10: 19,994,235 (GRCm39) |
L1043Q |
probably null |
Het |
| Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,183 (GRCm39) |
S946P |
probably benign |
Het |
| Mrpl50 |
T |
C |
4: 49,514,488 (GRCm39) |
Y61C |
probably damaging |
Het |
| Myf5 |
A |
T |
10: 107,321,733 (GRCm39) |
C20* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,921 (GRCm39) |
K163R |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,383 (GRCm39) |
H53L |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,648,342 (GRCm39) |
I276L |
probably benign |
Het |
| Pcdhga9 |
C |
A |
18: 37,872,058 (GRCm39) |
T629K |
probably damaging |
Het |
| Pglyrp1 |
A |
G |
7: 18,624,128 (GRCm39) |
N137S |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,668 (GRCm39) |
Y6F |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,790,976 (GRCm39) |
V1057G |
probably benign |
Het |
| Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,532,093 (GRCm39) |
M586K |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,557,030 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
T |
17: 32,616,357 (GRCm39) |
C278Y |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
| Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,613,125 (GRCm39) |
K401E |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,378 (GRCm39) |
Y194H |
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,802,117 (GRCm39) |
Y585N |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
| Shbg |
C |
T |
11: 69,505,912 (GRCm39) |
S365N |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,730,925 (GRCm39) |
S65T |
probably damaging |
Het |
| Stk3 |
T |
C |
15: 34,959,212 (GRCm39) |
E320G |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,765,117 (GRCm39) |
H81Q |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,658,437 (GRCm39) |
W1470R |
probably damaging |
Het |
| Thada |
C |
A |
17: 84,559,828 (GRCm39) |
V1450L |
possibly damaging |
Het |
| Tmem241 |
A |
G |
18: 12,237,176 (GRCm39) |
S87P |
probably damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Trim40 |
T |
C |
17: 37,194,117 (GRCm39) |
E192G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,853,065 (GRCm39) |
|
probably null |
Het |
| Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,367,962 (GRCm39) |
D35G |
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,322 (GRCm39) |
V210A |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,747,201 (GRCm39) |
I680N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl4a |
T |
C |
18: 80,250,493 (GRCm39) |
F30L |
probably damaging |
Het |
| Ubac2 |
G |
T |
14: 122,231,650 (GRCm39) |
C192F |
probably benign |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,502 (GRCm39) |
T156A |
possibly damaging |
Het |
| Zfp747l1 |
T |
A |
7: 126,984,578 (GRCm39) |
T175S |
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 |
|
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 |
|
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'- TATAAGGCCAAGGGTCCCAG -3'
(R):5'- GCCAGCCCTTAATAAGTTCTCTACC -3'
Sequencing Primer
(F):5'- GCCAAGGGTCCCAGTAAGG -3'
(R):5'- AGACATTTCTGATTCCTGGAGTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation