Incidental Mutation 'R0441:Agbl2'
ID |
39139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
038642-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0441 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 90627827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 211
(R211*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037206]
[ENSMUST00000037219]
[ENSMUST00000051831]
[ENSMUST00000111481]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
AlphaFold |
Q8CDK2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037206
AA Change: R211*
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812 AA Change: R211*
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 null
Transcript: ENSMUST00000037219
AA Change: R211*
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: R211*
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 null
Transcript: ENSMUST00000051831
AA Change: R211*
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: R211*
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 null
Transcript: ENSMUST00000111481
AA Change: R211*
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: R211*
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 null
Transcript: ENSMUST00000136058
AA Change: R211*
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812 AA Change: R211*
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 null
Transcript: ENSMUST00000170320
AA Change: R211*
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: R211*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
100% (71/71) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,689 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,545,345 (GRCm39) |
R5647* |
probably null |
Het |
Akap9 |
A |
G |
5: 4,011,714 (GRCm39) |
K806E |
probably benign |
Het |
Ampd1 |
C |
G |
3: 102,995,794 (GRCm39) |
L235V |
probably benign |
Het |
Atcay |
T |
C |
10: 81,060,294 (GRCm39) |
D14G |
possibly damaging |
Het |
Atp8b4 |
C |
T |
2: 126,220,626 (GRCm39) |
|
probably benign |
Het |
Bmp8b |
T |
C |
4: 123,018,308 (GRCm39) |
V393A |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,322 (GRCm39) |
D1695E |
probably damaging |
Het |
Cdh15 |
A |
G |
8: 123,587,705 (GRCm39) |
I210V |
probably damaging |
Het |
Cep250 |
T |
C |
2: 155,813,924 (GRCm39) |
L564P |
possibly damaging |
Het |
Cmpk1 |
T |
C |
4: 114,822,220 (GRCm39) |
T110A |
probably benign |
Het |
Cpsf3 |
T |
G |
12: 21,350,085 (GRCm39) |
I268S |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,414,023 (GRCm39) |
A2621V |
probably benign |
Het |
Cyp2c40 |
T |
C |
19: 39,795,607 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
A |
2: 103,998,292 (GRCm39) |
Y1837F |
probably damaging |
Het |
Degs2 |
A |
G |
12: 108,668,469 (GRCm39) |
F10S |
probably damaging |
Het |
Dytn |
T |
A |
1: 63,717,933 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
G |
C |
15: 78,557,795 (GRCm39) |
P251A |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,066,486 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,574,811 (GRCm39) |
D1022G |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,856,304 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,151,675 (GRCm39) |
|
probably null |
Het |
Gm15217 |
T |
C |
14: 46,620,676 (GRCm39) |
|
probably null |
Het |
Gm17611 |
A |
T |
13: 50,130,435 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
G |
A |
13: 25,146,303 (GRCm39) |
W182* |
probably null |
Het |
Gsc |
T |
C |
12: 104,439,353 (GRCm39) |
I8V |
probably damaging |
Het |
Hck |
A |
G |
2: 152,976,052 (GRCm39) |
K197R |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,720,301 (GRCm39) |
L1551P |
probably damaging |
Het |
Lrch1 |
C |
T |
14: 75,184,985 (GRCm39) |
G39D |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,259,148 (GRCm39) |
|
probably null |
Het |
Mroh9 |
A |
T |
1: 162,888,331 (GRCm39) |
V248E |
probably damaging |
Het |
Mrps15 |
C |
A |
4: 125,945,210 (GRCm39) |
|
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ndufa5 |
T |
C |
6: 24,522,750 (GRCm39) |
T31A |
probably benign |
Het |
Nfyb |
A |
G |
10: 82,586,594 (GRCm39) |
V190A |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,819,409 (GRCm39) |
I40M |
probably benign |
Het |
Or2f2 |
T |
C |
6: 42,767,108 (GRCm39) |
I45T |
probably damaging |
Het |
Or5ar1 |
A |
T |
2: 85,671,859 (GRCm39) |
I92N |
probably damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,674 (GRCm39) |
I126K |
probably damaging |
Het |
Otog |
T |
C |
7: 45,955,301 (GRCm39) |
S564P |
probably damaging |
Het |
Pak5 |
C |
T |
2: 135,958,549 (GRCm39) |
A180T |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,590,628 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Plxnc1 |
T |
A |
10: 94,632,344 (GRCm39) |
N1431I |
probably damaging |
Het |
Prph |
A |
T |
15: 98,955,319 (GRCm39) |
I429L |
probably damaging |
Het |
Prrc2a |
A |
G |
17: 35,368,664 (GRCm39) |
|
probably benign |
Het |
Pwwp3a |
A |
T |
10: 80,064,859 (GRCm39) |
N30Y |
probably damaging |
Het |
Rad54b |
A |
T |
4: 11,563,394 (GRCm39) |
T18S |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,321,590 (GRCm39) |
E2629G |
probably benign |
Het |
Rec114 |
G |
A |
9: 58,565,053 (GRCm39) |
T201I |
probably benign |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Sec23b |
A |
G |
2: 144,423,917 (GRCm39) |
E522G |
probably damaging |
Het |
Sgsm3 |
G |
A |
15: 80,893,971 (GRCm39) |
R502H |
possibly damaging |
Het |
Sh3pxd2b |
C |
A |
11: 32,373,023 (GRCm39) |
A730D |
possibly damaging |
Het |
Spag4 |
A |
G |
2: 155,909,899 (GRCm39) |
D187G |
probably damaging |
Het |
Srgap2 |
G |
A |
1: 131,264,175 (GRCm39) |
T465I |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
Tecpr1 |
C |
A |
5: 144,132,759 (GRCm39) |
R1159L |
probably benign |
Het |
Tmem63b |
A |
T |
17: 45,977,241 (GRCm39) |
|
probably null |
Het |
Tmtc1 |
T |
A |
6: 148,317,256 (GRCm39) |
D78V |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,029,722 (GRCm39) |
N68D |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,770,269 (GRCm39) |
A2641S |
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,241,032 (GRCm39) |
K19E |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,564,038 (GRCm39) |
E1274V |
probably null |
Het |
Vmn2r102 |
A |
T |
17: 19,914,630 (GRCm39) |
I732F |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,758,778 (GRCm39) |
M792K |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,816,126 (GRCm39) |
I608T |
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 |
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 |
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'- TCTCTGCTGTGCCAAGAATCTGATG -3'
(R):5'- GCCAGCCCTTAATAAGTTCTCTACCAC -3'
Sequencing Primer
(F):5'- CTACTTACAGACTTCAGAGTGGTGC -3'
(R):5'- TTGCAGACATTTCTGATTCCTGG -3'
|
Posted On |
2013-05-23 |