Incidental Mutation 'R7960:Agbl2'
| ID |
650034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl2
|
| Ensembl Gene |
ENSMUSG00000040812 |
| Gene Name |
ATP/GTP binding protein-like 2 |
| Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
| MMRRC Submission |
046004-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7960 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90621975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 154
(N154I)
|
| 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
AA Change: N154I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: N154I
| 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: N154I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: N154I
| 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: N154I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: N154I
| 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: N154I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: N154I
| 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
AA Change: N154I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: N154I
| 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: N154I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: N154I
| 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 |
0.1255 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (71/72) |
| 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 |
|---|
| 1110004F10Rik |
T |
C |
7: 115,702,481 (GRCm39) |
S82P |
possibly damaging |
Het |
| Ablim2 |
A |
C |
5: 36,014,493 (GRCm39) |
E450A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,368,922 (GRCm39) |
M1713I |
probably benign |
Het |
| Acbd6 |
C |
A |
1: 155,562,766 (GRCm39) |
Q256K |
probably benign |
Het |
| Ahcyl2 |
A |
G |
6: 29,870,626 (GRCm39) |
N181D |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,546,264 (GRCm39) |
D544E |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,516,513 (GRCm39) |
L407Q |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,362,980 (GRCm39) |
V34D |
|
Het |
| Brd3 |
A |
T |
2: 27,342,945 (GRCm39) |
S516T |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,992,747 (GRCm39) |
S1002P |
probably damaging |
Het |
| C4b |
G |
T |
17: 34,960,252 (GRCm39) |
|
probably null |
Het |
| Camta1 |
T |
C |
4: 151,232,990 (GRCm39) |
T228A |
probably benign |
Het |
| Cct6b |
T |
C |
11: 82,632,221 (GRCm39) |
K256E |
possibly damaging |
Het |
| Cep85l |
T |
A |
10: 53,172,403 (GRCm39) |
Q552L |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,049 (GRCm39) |
F103L |
unknown |
Het |
| Copb2 |
A |
G |
9: 98,462,407 (GRCm39) |
Q464R |
possibly damaging |
Het |
| Dlc1 |
G |
T |
8: 37,404,989 (GRCm39) |
H267N |
probably benign |
Het |
| Dnajb2 |
T |
C |
1: 75,218,055 (GRCm39) |
I184T |
|
Het |
| Dnajc9 |
C |
T |
14: 20,438,764 (GRCm39) |
E30K |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,678,917 (GRCm39) |
L1012P |
possibly damaging |
Het |
| Dtnbp1 |
T |
C |
13: 45,106,650 (GRCm39) |
K170R |
probably benign |
Het |
| F13b |
T |
A |
1: 139,431,509 (GRCm39) |
C26* |
probably null |
Het |
| Ficd |
G |
T |
5: 113,877,020 (GRCm39) |
E398D |
probably benign |
Het |
| G6pc1 |
G |
A |
11: 101,267,359 (GRCm39) |
G270R |
probably damaging |
Het |
| Garin4 |
T |
A |
1: 190,895,645 (GRCm39) |
T333S |
probably benign |
Het |
| Gm3604 |
T |
C |
13: 62,517,587 (GRCm39) |
Y257C |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,531,606 (GRCm39) |
Y3221F |
probably damaging |
Het |
| Hs3st3b1 |
C |
T |
11: 63,812,694 (GRCm39) |
G7D |
possibly damaging |
Het |
| Htr3b |
A |
T |
9: 48,856,852 (GRCm39) |
S209T |
probably benign |
Het |
| Ift70a1 |
A |
T |
2: 75,811,188 (GRCm39) |
D298E |
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,126,326 (GRCm39) |
E192D |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,295,638 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
A |
1: 178,506,484 (GRCm39) |
C187S |
probably damaging |
Het |
| Klhl11 |
A |
G |
11: 100,354,805 (GRCm39) |
S339P |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,467 (GRCm39) |
A40T |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,520,194 (GRCm39) |
T1972I |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,869,094 (GRCm39) |
T2784A |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,472,746 (GRCm39) |
F1088I |
probably damaging |
Het |
| Map2k2 |
G |
A |
10: 80,954,968 (GRCm39) |
R185Q |
probably benign |
Het |
| Mbd5 |
G |
A |
2: 49,169,796 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
A |
T |
17: 36,161,570 (GRCm39) |
R828* |
probably null |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,417 (GRCm39) |
S83P |
possibly damaging |
Het |
| Parp4 |
C |
A |
14: 56,832,708 (GRCm39) |
|
probably null |
Het |
| Pbk |
T |
A |
14: 66,046,650 (GRCm39) |
|
probably null |
Het |
| Phip |
A |
T |
9: 82,775,401 (GRCm39) |
D1060E |
probably benign |
Het |
| Pik3c2b |
T |
A |
1: 133,031,587 (GRCm39) |
L1509Q |
probably damaging |
Het |
| Pik3r5 |
T |
A |
11: 68,386,796 (GRCm39) |
F808L |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,736,443 (GRCm39) |
S595T |
possibly damaging |
Het |
| Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,437,727 (GRCm39) |
K95R |
possibly damaging |
Het |
| Poteg |
A |
G |
8: 27,946,888 (GRCm39) |
T259A |
probably benign |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,739 (GRCm39) |
M208V |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,260,687 (GRCm39) |
P20Q |
probably benign |
Het |
| Ptpn5 |
T |
A |
7: 46,729,295 (GRCm39) |
T440S |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,515,820 (GRCm39) |
R845G |
probably benign |
Het |
| Rasgrp2 |
G |
T |
19: 6,464,839 (GRCm39) |
V596L |
probably benign |
Het |
| Rcbtb2 |
T |
G |
14: 73,399,384 (GRCm39) |
V16G |
probably benign |
Het |
| Rel |
T |
C |
11: 23,694,493 (GRCm39) |
N289S |
probably damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,068 (GRCm39) |
Y504N |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
G |
A |
17: 3,221,397 (GRCm39) |
V295M |
unknown |
Het |
| Skic3 |
T |
C |
13: 76,260,318 (GRCm39) |
C87R |
probably benign |
Het |
| Slc25a48 |
T |
A |
13: 56,611,411 (GRCm39) |
Y173N |
probably damaging |
Het |
| Slc8a3 |
C |
T |
12: 81,263,506 (GRCm39) |
S627N |
probably benign |
Het |
| Snx8 |
T |
A |
5: 140,343,848 (GRCm39) |
M123L |
probably benign |
Het |
| Sri |
A |
T |
5: 8,114,586 (GRCm39) |
Q180H |
probably benign |
Het |
| Sycp2 |
T |
A |
2: 178,046,453 (GRCm39) |
R4S |
probably null |
Het |
| Tcstv1a |
G |
A |
13: 120,355,521 (GRCm39) |
T37I |
possibly damaging |
Het |
| Tnnc2 |
A |
T |
2: 164,619,704 (GRCm39) |
D87E |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,728,628 (GRCm39) |
N92I |
probably damaging |
Het |
| Trpv6 |
C |
T |
6: 41,604,612 (GRCm39) |
D97N |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,102,022 (GRCm39) |
Y19H |
probably damaging |
Het |
| Vmn2r69 |
C |
T |
7: 85,055,973 (GRCm39) |
V722I |
probably benign |
Het |
| Zan |
T |
C |
5: 137,407,865 (GRCm39) |
D3643G |
unknown |
Het |
| Zan |
G |
A |
5: 137,463,154 (GRCm39) |
T675I |
unknown |
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 |
|
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'- GACTCACTTCTGCTGAGCTC -3'
(R):5'- AACCCTGCAGCCTTGTAATAAAG -3'
Sequencing Primer
(F):5'- TCGCCGCTCCTGAGGAC -3'
(R):5'- GTAAGATAAAACAGCCGGAACAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation