Incidental Mutation 'R6830:Macrod2'
| ID |
534331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| MMRRC Submission |
044940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140294602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 89
(N89K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078027]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q3UYG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078027
AA Change: N89K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: N89K
| 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: ENSMUST00000110063
AA Change: N89K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205
AA Change: N89K
| 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: N89K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: N89K
| 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: ENSMUST00000110067
AA Change: N89K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: N89K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
| Meta Mutation Damage Score |
0.7754 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
C |
3: 146,356,716 (GRCm39) |
D64G |
possibly damaging |
Het |
| Amtn |
T |
C |
5: 88,525,956 (GRCm39) |
L40P |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,792,342 (GRCm39) |
R90G |
probably damaging |
Het |
| Arfgef3 |
A |
C |
10: 18,540,637 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
C |
T |
18: 22,658,445 (GRCm39) |
P2152S |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,512,381 (GRCm39) |
V494E |
probably damaging |
Het |
| Bik |
T |
A |
15: 83,428,409 (GRCm39) |
Y146N |
probably benign |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,436 (GRCm39) |
I12F |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,095,890 (GRCm39) |
V1736A |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,833,636 (GRCm39) |
E231G |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,012 (GRCm39) |
K1020R |
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,044,860 (GRCm39) |
V421L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,205,668 (GRCm39) |
S135P |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,924,355 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,759,452 (GRCm39) |
F546L |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,966 (GRCm39) |
M3206K |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,952,332 (GRCm39) |
D179G |
probably benign |
Het |
| Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,664,832 (GRCm39) |
S285R |
probably benign |
Het |
| Htt |
T |
A |
5: 34,991,670 (GRCm39) |
Y1212N |
possibly damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,745 (GRCm39) |
K159R |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,199 (GRCm39) |
I80F |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,769,775 (GRCm39) |
R173C |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,903,935 (GRCm39) |
F26L |
probably benign |
Het |
| Neil3 |
G |
T |
8: 54,052,514 (GRCm39) |
N361K |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,551,720 (GRCm39) |
R193G |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,447 (GRCm39) |
I198N |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,731,113 (GRCm39) |
Q3205L |
unknown |
Het |
| Plekhm1 |
A |
T |
11: 103,267,715 (GRCm39) |
I752N |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,878,614 (GRCm39) |
T273A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,973,597 (GRCm39) |
M235K |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,999,993 (GRCm39) |
|
probably null |
Het |
| Reg2 |
A |
G |
6: 78,384,625 (GRCm39) |
H119R |
possibly damaging |
Het |
| Rpe65 |
T |
C |
3: 159,319,805 (GRCm39) |
V225A |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Slc25a23 |
G |
A |
17: 57,360,804 (GRCm39) |
R9* |
probably null |
Het |
| Snai3 |
A |
G |
8: 123,183,212 (GRCm39) |
L111P |
probably damaging |
Het |
| Stk38 |
A |
G |
17: 29,218,981 (GRCm39) |
|
probably null |
Het |
| Stk38l |
A |
T |
6: 146,668,269 (GRCm39) |
I115F |
possibly damaging |
Het |
| Tmco6 |
T |
A |
18: 36,871,406 (GRCm39) |
|
probably null |
Het |
| Tollip |
A |
T |
7: 141,452,451 (GRCm39) |
M1K |
probably null |
Het |
| Trim40 |
T |
C |
17: 37,199,742 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,163,550 (GRCm39) |
Y719* |
probably null |
Het |
| Ubald1 |
T |
C |
16: 4,697,584 (GRCm39) |
D6G |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,171 (GRCm39) |
S476R |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,753,161 (GRCm39) |
G402D |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,911 (GRCm39) |
Y201C |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,770,028 (GRCm39) |
H62L |
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 |
|
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 |
|
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'- GGGCACACAGATGAGTACACAC -3'
(R):5'- GCATGAAACCAGTAATCATTTAGCG -3'
Sequencing Primer
(F):5'- GCACACAGATGAGTACACACAAGAAG -3'
(R):5'- GCGACTAAAATTCTTTCTGAAGAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation