Incidental Mutation 'IGL00574:Macrod2'
| ID |
11884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140242797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 21
(M21R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043836]
[ENSMUST00000078027]
[ENSMUST00000110061]
[ENSMUST00000110062]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q3UYG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043836
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078027
AA Change: M21R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
low complexity region
|
266 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110061
AA Change: M21R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105688
Gene: ENSMUSG00000068205
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
54 |
5e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110062
AA Change: M21R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105689
Gene: ENSMUSG00000068205
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
54 |
5e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110063
AA Change: M21R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
107 |
1e-36 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110064
AA Change: M21R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
low complexity region
|
266 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110067
AA Change: M21R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150460
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
| Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
| Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
| Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
| Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
| Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
| Other mutations in Macrod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Macrod2
|
APN |
2 |
140,261,824 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00788:Macrod2
|
APN |
2 |
142,052,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL00840:Macrod2
|
APN |
2 |
142,018,578 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01160:Macrod2
|
APN |
2 |
140,666,962 (GRCm39) |
splice site |
probably benign |
|
|
IGL01357:Macrod2
|
APN |
2 |
142,226,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Macrod2
|
APN |
2 |
140,294,492 (GRCm39) |
splice site |
probably benign |
|
|
IGL01910:Macrod2
|
APN |
2 |
142,138,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02208:Macrod2
|
APN |
2 |
142,216,196 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03013:Macrod2
|
APN |
2 |
141,357,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0196:Macrod2
|
UTSW |
2 |
142,018,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Macrod2
|
UTSW |
2 |
142,052,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0699:Macrod2
|
UTSW |
2 |
140,260,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0730:Macrod2
|
UTSW |
2 |
142,059,594 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Macrod2
|
UTSW |
2 |
140,242,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1124:Macrod2
|
UTSW |
2 |
140,294,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Macrod2
|
UTSW |
2 |
140,261,861 (GRCm39) |
splice site |
probably null |
|
|
R3707:Macrod2
|
UTSW |
2 |
141,652,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3708:Macrod2
|
UTSW |
2 |
141,652,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Macrod2
|
UTSW |
2 |
141,652,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Macrod2
|
UTSW |
2 |
140,260,777 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4666:Macrod2
|
UTSW |
2 |
142,059,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4782:Macrod2
|
UTSW |
2 |
140,261,858 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4885:Macrod2
|
UTSW |
2 |
140,261,985 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5180:Macrod2
|
UTSW |
2 |
140,237,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Macrod2
|
UTSW |
2 |
142,159,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5677:Macrod2
|
UTSW |
2 |
142,018,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5735:Macrod2
|
UTSW |
2 |
140,260,809 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5750:Macrod2
|
UTSW |
2 |
141,357,240 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5770:Macrod2
|
UTSW |
2 |
141,074,102 (GRCm39) |
intron |
probably benign |
|
|
R6029:Macrod2
|
UTSW |
2 |
142,160,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6174:Macrod2
|
UTSW |
2 |
140,242,895 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6453:Macrod2
|
UTSW |
2 |
142,018,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Macrod2
|
UTSW |
2 |
140,294,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Macrod2
|
UTSW |
2 |
142,098,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Macrod2
|
UTSW |
2 |
140,261,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7020:Macrod2
|
UTSW |
2 |
142,231,795 (GRCm39) |
makesense |
probably null |
|
|
R7886:Macrod2
|
UTSW |
2 |
141,566,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Macrod2
|
UTSW |
2 |
141,652,534 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Macrod2
|
UTSW |
2 |
140,866,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Macrod2
|
UTSW |
2 |
140,548,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation