Incidental Mutation 'R3745:Macrod2'
| ID |
271152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| MMRRC Submission |
040731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141652549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 204
(T204K)
|
| 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: T204K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: T204K
| 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: T204K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: T204K
| 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: T204K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: T204K
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot9 |
G |
A |
X: 154,054,941 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,806,131 (GRCm39) |
V199A |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,647 (GRCm39) |
Y473N |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| Astn1 |
G |
T |
1: 158,329,630 (GRCm39) |
A162S |
probably damaging |
Het |
| Atosa |
T |
C |
9: 74,917,144 (GRCm39) |
V581A |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,505,425 (GRCm39) |
|
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,900,240 (GRCm39) |
M507K |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
A |
C |
15: 82,276,056 (GRCm39) |
I175S |
probably benign |
Het |
| Dclk1 |
A |
G |
3: 55,154,863 (GRCm39) |
N98D |
possibly damaging |
Het |
| Erich5 |
T |
A |
15: 34,470,878 (GRCm39) |
C36S |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,348 (GRCm39) |
I540V |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,616 (GRCm39) |
S303R |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gbp9 |
C |
A |
5: 105,253,724 (GRCm39) |
|
probably benign |
Het |
| Gm6408 |
G |
T |
5: 146,421,246 (GRCm39) |
V292F |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,742,637 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,006,717 (GRCm39) |
D1136G |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,042,199 (GRCm39) |
|
probably benign |
Het |
| Msantd1 |
T |
A |
5: 35,080,811 (GRCm39) |
V155E |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,064,829 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,976,163 (GRCm39) |
C375S |
possibly damaging |
Het |
| Nell2 |
A |
C |
15: 95,330,554 (GRCm39) |
C231W |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,388,358 (GRCm39) |
S421P |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,577 (GRCm39) |
V50E |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,744 (GRCm39) |
L84P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,435 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,980,353 (GRCm39) |
K785R |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,387,010 (GRCm39) |
|
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,251,703 (GRCm39) |
I357T |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,754 (GRCm39) |
T284I |
unknown |
Het |
| Psma3 |
T |
C |
12: 71,025,522 (GRCm39) |
S13P |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rpl6l |
T |
C |
10: 110,962,226 (GRCm39) |
|
noncoding transcript |
Het |
| Tex11 |
A |
G |
X: 99,960,178 (GRCm39) |
V522A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,605,978 (GRCm39) |
E573G |
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,548,567 (GRCm39) |
S259P |
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,276,049 (GRCm39) |
E549G |
probably benign |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,248 (GRCm39) |
A262T |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,101 (GRCm39) |
D1131E |
probably benign |
Het |
| Zfp445 |
A |
C |
9: 122,683,791 (GRCm39) |
D289E |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAACTGGTTTCACACCCATG -3'
(R):5'- ACTGGTCATTATGTCTACTTCAGC -3'
Sequencing Primer
(F):5'- TGGTTTCACACCCATGTAAAAC -3'
(R):5'- GTCTACTTCAGCCAAATGATTACAGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation