Incidental Mutation 'IGL01357:Macrod2'
| ID |
75572 |
| 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 # |
IGL01357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142226250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 457
(N457S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078027]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q3UYG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078027
AA Change: N457S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: N457S
| 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: ENSMUST00000110064
AA Change: N457S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: N457S
| 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 benign
Transcript: ENSMUST00000110067
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
| 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: ENSMUST00000138786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158693
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
C |
A |
8: 125,366,072 (GRCm39) |
V224F |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,897,232 (GRCm39) |
M637K |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,922,398 (GRCm39) |
V1395A |
probably benign |
Het |
| Adam20 |
A |
C |
8: 41,249,597 (GRCm39) |
D569A |
probably benign |
Het |
| Axl |
A |
G |
7: 25,473,594 (GRCm39) |
L344P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,668,283 (GRCm39) |
L291P |
probably damaging |
Het |
| Cdc25c |
A |
T |
18: 34,867,910 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
T |
2: 30,297,736 (GRCm39) |
Y263N |
probably damaging |
Het |
| Crb2 |
A |
G |
2: 37,685,523 (GRCm39) |
|
probably benign |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,701,540 (GRCm39) |
V205D |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,240,077 (GRCm39) |
Y1011* |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,146 (GRCm39) |
S414N |
probably damaging |
Het |
| Fev |
T |
C |
1: 74,921,683 (GRCm39) |
E89G |
possibly damaging |
Het |
| Fgg |
A |
G |
3: 82,921,535 (GRCm39) |
E406G |
possibly damaging |
Het |
| Glra1 |
A |
T |
11: 55,405,715 (GRCm39) |
M425K |
possibly damaging |
Het |
| Gm8214 |
C |
T |
1: 183,414,129 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm3b |
A |
G |
18: 34,926,067 (GRCm39) |
E69G |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,895,877 (GRCm39) |
V89E |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,206,083 (GRCm39) |
N361I |
unknown |
Het |
| Mal |
C |
A |
2: 127,482,234 (GRCm39) |
M56I |
probably damaging |
Het |
| Mfsd5 |
C |
T |
15: 102,189,882 (GRCm39) |
T418M |
probably benign |
Het |
| Mmaa |
C |
A |
8: 79,994,600 (GRCm39) |
R402L |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,393,115 (GRCm39) |
|
probably benign |
Het |
| Nme1 |
A |
G |
11: 93,850,317 (GRCm39) |
S122P |
possibly damaging |
Het |
| Nxt1 |
A |
G |
2: 148,517,316 (GRCm39) |
E19G |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,874 (GRCm39) |
T994S |
probably benign |
Het |
| Orc2 |
T |
G |
1: 58,536,551 (GRCm39) |
E56D |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,552 (GRCm39) |
E56G |
probably benign |
Het |
| Pid1 |
G |
A |
1: 84,016,026 (GRCm39) |
T113I |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,340,900 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,597,848 (GRCm39) |
V12A |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,335,862 (GRCm39) |
V197I |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,574,212 (GRCm39) |
N134I |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,424 (GRCm39) |
R204G |
unknown |
Het |
| Strip2 |
A |
G |
6: 29,939,166 (GRCm39) |
|
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,383,078 (GRCm39) |
I206L |
probably benign |
Het |
| Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,379,666 (GRCm39) |
V401A |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,392,808 (GRCm39) |
I241N |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,781,864 (GRCm39) |
S1015A |
possibly damaging |
Het |
| Wee1 |
T |
C |
7: 109,741,242 (GRCm39) |
S622P |
probably benign |
Het |
|
| Other mutations in Macrod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Macrod2
|
APN |
2 |
140,242,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation