Incidental Mutation 'R7886:Macrod2'
| ID |
609043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| MMRRC Submission |
045938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141566565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 188
(G188S)
|
| 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: G188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: G188S
| 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: G188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: G188S
| 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: G188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: G188S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
G |
6: 92,811,437 (GRCm39) |
I130S |
unknown |
Het |
| Ano5 |
A |
G |
7: 51,220,141 (GRCm39) |
H427R |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,989,532 (GRCm39) |
V182E |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,002,923 (GRCm39) |
Y147H |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,289 (GRCm39) |
S349G |
possibly damaging |
Het |
| Ccdc51 |
G |
T |
9: 108,920,655 (GRCm39) |
A181S |
probably damaging |
Het |
| Dcc |
G |
A |
18: 72,087,939 (GRCm39) |
Q100* |
probably null |
Het |
| Dchs2 |
A |
T |
3: 83,212,392 (GRCm39) |
I2064F |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,706 (GRCm39) |
V217I |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,492,629 (GRCm39) |
F31I |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,730,934 (GRCm39) |
R825H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Fdx2 |
A |
T |
9: 20,984,623 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,934,643 (GRCm39) |
D106G |
possibly damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,229 (GRCm39) |
R446W |
probably damaging |
Het |
| Get1 |
T |
A |
16: 95,946,768 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,572 (GRCm39) |
E362G |
|
Het |
| Hmcn1 |
A |
T |
1: 150,533,221 (GRCm39) |
I3022N |
possibly damaging |
Het |
| Ifna2 |
C |
A |
4: 88,601,506 (GRCm39) |
V171F |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,235,748 (GRCm39) |
N1478D |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,077,045 (GRCm39) |
D282E |
probably damaging |
Het |
| Klhdc2 |
G |
A |
12: 69,351,406 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
T |
C |
2: 119,843,128 (GRCm39) |
F186L |
possibly damaging |
Het |
| Mettl21a |
T |
C |
1: 64,654,343 (GRCm39) |
E58G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,497,278 (GRCm39) |
C6625S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,382,689 (GRCm39) |
S7T |
probably benign |
Het |
| Nfs1 |
T |
A |
2: 155,983,981 (GRCm39) |
D132V |
unknown |
Het |
| Nlgn1 |
T |
C |
3: 25,490,071 (GRCm39) |
D552G |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,663,072 (GRCm39) |
T2066I |
probably benign |
Het |
| Or10k2 |
T |
C |
8: 84,268,576 (GRCm39) |
S268P |
possibly damaging |
Het |
| Or2t48 |
C |
A |
11: 58,419,880 (GRCm39) |
V311L |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,021 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,657 (GRCm39) |
Y217C |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,202 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
T |
2: 76,121,547 (GRCm39) |
V345I |
probably benign |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,735 (GRCm39) |
S98P |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,452,641 (GRCm39) |
Q643* |
probably null |
Het |
| Pold2 |
T |
C |
11: 5,822,714 (GRCm39) |
Y402C |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,848 (GRCm39) |
T770A |
unknown |
Het |
| Pou4f1 |
A |
T |
14: 104,704,228 (GRCm39) |
V68E |
probably damaging |
Het |
| Ppfia1 |
G |
T |
7: 144,073,020 (GRCm39) |
Q265K |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,253,130 (GRCm39) |
|
probably null |
Het |
| Rdh19 |
A |
G |
10: 127,686,169 (GRCm39) |
T94A |
probably benign |
Het |
| Scgb1b12 |
A |
G |
7: 32,033,922 (GRCm39) |
T61A |
probably damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,886,366 (GRCm39) |
A337T |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,746 (GRCm39) |
E381G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,720,288 (GRCm39) |
I1304V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,193,638 (GRCm39) |
G54C |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,659 (GRCm39) |
Q905L |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,490 (GRCm39) |
N136K |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,108,733 (GRCm39) |
E138K |
probably benign |
Het |
| Zbed3 |
A |
G |
13: 95,472,633 (GRCm39) |
D19G |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,439,868 (GRCm39) |
K184R |
possibly 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 |
|
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 |
|
|
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'- GCTGAAGAGTCCTTAAGGGG -3'
(R):5'- TCCTTGGTGGAATTTGACATGC -3'
Sequencing Primer
(F):5'- CCTGAACATTTAACATCTGTGTCTTG -3'
(R):5'- ACATGCATTTTCAGTCTCTGTGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation