Incidental Mutation 'R5750:Macrod2'
| ID |
445954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| MMRRC Submission |
043356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141357240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 179
(S179T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078027]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q3UYG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078027
AA Change: S179T
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: S179T
| 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: ENSMUST00000110064
AA Change: S179T
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: S179T
| 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
AA Change: S179T
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: S179T
| 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 |
0.1371 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmat |
G |
A |
4: 141,476,998 (GRCm39) |
V135I |
probably benign |
Het |
| Agr3 |
T |
C |
12: 35,996,941 (GRCm39) |
Y72H |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,757,955 (GRCm39) |
M883K |
probably benign |
Het |
| Cpeb1 |
A |
T |
7: 81,086,099 (GRCm39) |
D9E |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,816,608 (GRCm39) |
V386M |
possibly damaging |
Het |
| Dnlz |
C |
T |
2: 26,241,423 (GRCm39) |
V102M |
probably damaging |
Het |
| Esp4 |
C |
T |
17: 40,913,286 (GRCm39) |
T51M |
probably benign |
Het |
| Fap |
C |
A |
2: 62,359,058 (GRCm39) |
C443F |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,669 (GRCm39) |
L336F |
probably benign |
Het |
| Gna15 |
G |
A |
10: 81,345,230 (GRCm39) |
Q212* |
probably null |
Het |
| Hk1 |
A |
G |
10: 62,110,245 (GRCm39) |
F785L |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,241,654 (GRCm39) |
Q263L |
possibly damaging |
Het |
| Itgax |
T |
C |
7: 127,743,878 (GRCm39) |
F880L |
probably benign |
Het |
| Kcnq4 |
A |
C |
4: 120,572,246 (GRCm39) |
V327G |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,396 (GRCm39) |
|
probably benign |
Het |
| Leng8 |
C |
T |
7: 4,145,119 (GRCm39) |
S173L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,348,923 (GRCm39) |
D2591N |
unknown |
Het |
| Map4k2 |
T |
A |
19: 6,401,367 (GRCm39) |
S612R |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,166,086 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
C |
T |
5: 139,701,456 (GRCm39) |
|
probably null |
Het |
| Miga2 |
T |
A |
2: 30,261,577 (GRCm39) |
W191R |
probably damaging |
Het |
| Mterf1b |
T |
C |
5: 4,246,683 (GRCm39) |
I108T |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,082,254 (GRCm39) |
I1319V |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,809,450 (GRCm39) |
E234G |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,899,264 (GRCm39) |
C602* |
probably null |
Het |
| Ntrk2 |
C |
A |
13: 58,956,736 (GRCm39) |
P65Q |
probably benign |
Het |
| Or52z15 |
G |
A |
7: 103,332,362 (GRCm39) |
V136I |
possibly damaging |
Het |
| Or6c215 |
C |
T |
10: 129,637,489 (GRCm39) |
V302M |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,095,863 (GRCm39) |
I324F |
probably damaging |
Het |
| Peli2 |
G |
T |
14: 48,493,632 (GRCm39) |
V285L |
possibly damaging |
Het |
| Qser1 |
A |
G |
2: 104,619,268 (GRCm39) |
S515P |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,836,143 (GRCm39) |
R721C |
probably damaging |
Het |
| Rps5 |
A |
G |
7: 12,659,334 (GRCm39) |
K42E |
probably damaging |
Het |
| Rufy4 |
A |
T |
1: 74,172,068 (GRCm39) |
T264S |
probably benign |
Het |
| Shq1 |
A |
T |
6: 100,588,775 (GRCm39) |
V259D |
possibly damaging |
Het |
| Slc22a3 |
T |
C |
17: 12,652,395 (GRCm39) |
I410V |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,501 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,289,209 (GRCm39) |
H1430Q |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,623,642 (GRCm39) |
Q1421* |
probably null |
Het |
| Tmem126b |
A |
C |
7: 90,118,865 (GRCm39) |
V141G |
probably damaging |
Het |
| Trim52 |
C |
A |
14: 106,344,932 (GRCm39) |
Q197K |
probably benign |
Het |
| Tshz1 |
A |
G |
18: 84,032,086 (GRCm39) |
L774P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,031 (GRCm39) |
S10217G |
possibly damaging |
Het |
| Unc45a |
A |
G |
7: 79,984,571 (GRCm39) |
V228A |
probably benign |
Het |
| Unc93a2 |
C |
T |
17: 7,637,130 (GRCm39) |
V133I |
probably benign |
Het |
| Vwa2 |
G |
T |
19: 56,897,663 (GRCm39) |
G656V |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,529,556 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,887,530 (GRCm39) |
Q494L |
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 |
|
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'- GCGCCAGTTGTGTGAAAAGC -3'
(R):5'- ACTGTGGACTGAAGCTGAAG -3'
Sequencing Primer
(F):5'- CACACAGTGCTTCACTTACCC -3'
(R):5'- TGCATATGTAAGCACGGGCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation