Incidental Mutation 'R4389:Adprm'
| ID |
326339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprm
|
| Ensembl Gene |
ENSMUSG00000020910 |
| Gene Name |
ADP-ribose/CDP-alcohol diphosphatase, manganese dependent |
| Synonyms |
2310004I24Rik |
| MMRRC Submission |
041126-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4389 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
66928731-66943420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66929019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 324
(R324K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061786]
[ENSMUST00000079077]
[ENSMUST00000116363]
[ENSMUST00000146338]
|
| AlphaFold |
Q99KS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061786
|
| SMART Domains |
Protein: ENSMUSP00000057366
Gene: ENSMUSG00000050270
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM220
|
23 |
122 |
4e-30 |
PFAM |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079077
|
| SMART Domains |
Protein: ENSMUSP00000078084
Gene: ENSMUSG00000050270
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:TMEM220
|
23 |
48 |
1.2e-9 |
PFAM |
|
Pfam:TMEM220
|
64 |
144 |
4.3e-19 |
PFAM |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116363
AA Change: R324K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112064
Gene: ENSMUSG00000020910
AA Change: R324K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
18 |
282 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136013
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146338
|
| SMART Domains |
Protein: ENSMUSP00000137768
Gene: ENSMUSG00000020910
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2NXF|A
|
13 |
199 |
4e-47 |
PDB |
|
SCOP:d1utea_
|
15 |
176 |
3e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148379
|
| Meta Mutation Damage Score |
0.0577 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.6%
|
| Validation Efficiency |
87% (26/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,247,878 (GRCm39) |
T2542P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,803,362 (GRCm39) |
K1560M |
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,415,987 (GRCm39) |
D212G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,296,865 (GRCm39) |
L1285* |
probably null |
Het |
| Gzma |
G |
T |
13: 113,234,922 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,843,618 (GRCm39) |
I120M |
possibly damaging |
Het |
| Lhx3 |
C |
T |
2: 26,091,102 (GRCm39) |
|
probably benign |
Het |
| Mtfr1l |
T |
C |
4: 134,259,953 (GRCm39) |
|
probably benign |
Het |
| Ndufb4 |
T |
C |
16: 37,468,032 (GRCm39) |
N126S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nptn |
A |
G |
9: 58,551,055 (GRCm39) |
K361E |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,514,020 (GRCm39) |
D332G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,842 (GRCm39) |
V675A |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Slc13a1 |
A |
T |
6: 24,092,397 (GRCm39) |
|
probably null |
Het |
| Tec |
A |
G |
5: 72,939,350 (GRCm39) |
Y222H |
probably benign |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,715 (GRCm39) |
L106* |
probably null |
Het |
| Zfp189 |
A |
G |
4: 49,529,934 (GRCm39) |
R346G |
probably damaging |
Het |
|
| Other mutations in Adprm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02668:Adprm
|
APN |
11 |
66,931,073 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0179:Adprm
|
UTSW |
11 |
66,929,051 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1493:Adprm
|
UTSW |
11 |
66,932,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1636:Adprm
|
UTSW |
11 |
66,932,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1999:Adprm
|
UTSW |
11 |
66,929,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2085:Adprm
|
UTSW |
11 |
66,932,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Adprm
|
UTSW |
11 |
66,929,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4387:Adprm
|
UTSW |
11 |
66,929,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4995:Adprm
|
UTSW |
11 |
66,932,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5015:Adprm
|
UTSW |
11 |
66,932,856 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7250:Adprm
|
UTSW |
11 |
66,932,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8901:Adprm
|
UTSW |
11 |
66,932,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCACTCACACATACTCAAGGTG -3'
(R):5'- GTGGATGCTCTGTCAATCATATGG -3'
Sequencing Primer
(F):5'- CATACTCAAGGTGCAAATACATTTTG -3'
(R):5'- CTGTCAATCATATGGTCTCACAAGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation