Incidental Mutation 'R4409:Macrod2'
| ID |
327789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| MMRRC Submission |
041691-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4409 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140260777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 68
(H68Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043836]
[ENSMUST00000078027]
[ENSMUST00000110061]
[ENSMUST00000110062]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q3UYG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043836
AA Change: M16R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078027
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
| 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: ENSMUST00000110061
AA Change: H68Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105688
Gene: ENSMUSG00000068205
AA Change: H68Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
54 |
5e-13 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110062
AA Change: H68Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105689
Gene: ENSMUSG00000068205
AA Change: H68Q
| 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 benign
Transcript: ENSMUST00000110063
|
| SMART Domains |
Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205
| 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 benign
Transcript: ENSMUST00000110064
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
| 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: ENSMUST00000124403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150460
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
T |
4: 144,447,872 (GRCm39) |
S35T |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,836,657 (GRCm39) |
L1085V |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,752,738 (GRCm39) |
V560A |
probably damaging |
Het |
| Ambp |
C |
A |
4: 63,070,884 (GRCm39) |
S65I |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,914,506 (GRCm39) |
D1712G |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,960,162 (GRCm39) |
S105T |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,368,708 (GRCm39) |
Q1277* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,711,788 (GRCm39) |
F736L |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,557,334 (GRCm39) |
H206R |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,874,754 (GRCm39) |
A785T |
possibly damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,727,896 (GRCm39) |
E85D |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
| Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
| Gm10226 |
G |
T |
17: 21,910,876 (GRCm39) |
C37F |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,503,182 (GRCm39) |
Y411C |
possibly damaging |
Het |
| Grin1 |
T |
C |
2: 25,200,451 (GRCm39) |
N224D |
possibly damaging |
Het |
| H2-T5 |
T |
A |
17: 36,476,742 (GRCm39) |
H244L |
possibly damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
| Il1rap |
G |
A |
16: 26,531,015 (GRCm39) |
|
probably null |
Het |
| Iqcg |
A |
G |
16: 32,865,888 (GRCm39) |
|
probably null |
Het |
| Klhdc3 |
C |
T |
17: 46,987,944 (GRCm39) |
G249E |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,066,986 (GRCm39) |
T2A |
possibly damaging |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,258,226 (GRCm39) |
D300G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,807,955 (GRCm39) |
Y1859C |
probably damaging |
Het |
| Nacc1 |
A |
G |
8: 85,399,673 (GRCm39) |
*515Q |
probably null |
Het |
| Or1ad6 |
T |
A |
11: 50,860,223 (GRCm39) |
I126N |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,230 (GRCm39) |
T10S |
probably benign |
Het |
| Or5g29 |
T |
C |
2: 85,421,274 (GRCm39) |
L130S |
probably damaging |
Het |
| Oxgr1 |
C |
T |
14: 120,259,572 (GRCm39) |
V212M |
possibly damaging |
Het |
| P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,132,198 (GRCm39) |
H422Q |
probably benign |
Het |
| Pcdhga12 |
A |
G |
18: 37,901,138 (GRCm39) |
T657A |
probably damaging |
Het |
| Pcx |
A |
G |
19: 4,660,031 (GRCm39) |
K442R |
possibly damaging |
Het |
| Pkd2 |
T |
C |
5: 104,614,750 (GRCm39) |
|
silent |
Het |
| Plg |
T |
G |
17: 12,609,150 (GRCm39) |
C152G |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,760,984 (GRCm39) |
E438G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,560,653 (GRCm39) |
L3016P |
probably damaging |
Het |
| Sdccag8 |
T |
G |
1: 176,695,932 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,855,506 (GRCm39) |
M467K |
probably benign |
Het |
| Sorl1 |
T |
G |
9: 41,946,744 (GRCm39) |
I856L |
probably damaging |
Het |
| Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmprss11b |
T |
C |
5: 86,812,137 (GRCm39) |
N170S |
probably benign |
Het |
| Tnfrsf1b |
G |
A |
4: 144,950,855 (GRCm39) |
Q253* |
probably null |
Het |
| Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,987 (GRCm39) |
|
probably benign |
Het |
| Vmn1r213 |
A |
C |
13: 23,195,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r54 |
C |
A |
6: 90,246,864 (GRCm39) |
Y259* |
probably null |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
| Vmn2r120 |
T |
C |
17: 57,816,477 (GRCm39) |
N626S |
probably damaging |
Het |
| Vmn2r58 |
A |
G |
7: 41,522,051 (GRCm39) |
F15S |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,520,768 (GRCm39) |
V400E |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,401 (GRCm39) |
N514D |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,494 (GRCm39) |
H485Q |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGAAGGTAGGAATTGCTCAG -3'
(R):5'- CTTGGAAAAGACCACTGCTCC -3'
Sequencing Primer
(F):5'- TGAAGGTAGGAATTGCTCAGTATTAG -3'
(R):5'- GACCACTGCTCCATTATAATACTGTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation