Incidental Mutation 'R6971:Adprhl1'
ID |
542249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
MMRRC Submission |
045081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6971 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 13273476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1094
(Q1094L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204916]
|
AlphaFold |
Q8BGK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000204916
AA Change: Q1094L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000145145 Gene: ENSMUSG00000031448 AA Change: Q1094L
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
6 |
327 |
4.2e-49 |
PFAM |
low complexity region
|
509 |
527 |
N/A |
INTRINSIC |
low complexity region
|
955 |
969 |
N/A |
INTRINSIC |
internal_repeat_1
|
1047 |
1150 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
1157 |
1274 |
1.82e-5 |
PROSPERO |
low complexity region
|
1275 |
1290 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
Glra1 |
A |
T |
11: 55,427,325 (GRCm39) |
Y3* |
probably null |
Het |
Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
Ip6k2 |
T |
C |
9: 108,674,510 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
Pde2a |
T |
A |
7: 101,159,520 (GRCm39) |
Y783* |
probably null |
Het |
Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
Sec63 |
A |
G |
10: 42,659,438 (GRCm39) |
E42G |
probably damaging |
Het |
Setdb2 |
A |
T |
14: 59,653,189 (GRCm39) |
L371Q |
probably damaging |
Het |
Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
Slc3a2 |
T |
C |
19: 8,686,974 (GRCm39) |
|
probably null |
Het |
Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
probably damaging |
Het |
|
Other mutations in Adprhl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03268:Adprhl1
|
APN |
8 |
13,296,170 (GRCm39) |
splice site |
probably benign |
|
BB003:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB005:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB015:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Adprhl1
|
UTSW |
8 |
13,292,391 (GRCm39) |
splice site |
probably benign |
|
R0636:Adprhl1
|
UTSW |
8 |
13,298,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Adprhl1
|
UTSW |
8 |
13,298,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Adprhl1
|
UTSW |
8 |
13,298,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Adprhl1
|
UTSW |
8 |
13,292,559 (GRCm39) |
missense |
probably benign |
0.00 |
R4411:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4412:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4413:Adprhl1
|
UTSW |
8 |
13,296,114 (GRCm39) |
missense |
probably benign |
0.16 |
R4615:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
R4618:Adprhl1
|
UTSW |
8 |
13,292,250 (GRCm39) |
critical splice donor site |
probably null |
|
R5016:Adprhl1
|
UTSW |
8 |
13,274,889 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5058:Adprhl1
|
UTSW |
8 |
13,292,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5060:Adprhl1
|
UTSW |
8 |
13,298,621 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5209:Adprhl1
|
UTSW |
8 |
13,292,563 (GRCm39) |
nonsense |
probably null |
|
R6103:Adprhl1
|
UTSW |
8 |
13,272,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6158:Adprhl1
|
UTSW |
8 |
13,274,977 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6221:Adprhl1
|
UTSW |
8 |
13,275,634 (GRCm39) |
missense |
probably benign |
0.01 |
R7087:Adprhl1
|
UTSW |
8 |
13,271,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R7362:Adprhl1
|
UTSW |
8 |
13,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7404:Adprhl1
|
UTSW |
8 |
13,275,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R7422:Adprhl1
|
UTSW |
8 |
13,272,873 (GRCm39) |
missense |
probably benign |
0.28 |
R7439:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
R7441:Adprhl1
|
UTSW |
8 |
13,273,069 (GRCm39) |
missense |
probably benign |
0.01 |
R7772:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7774:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7776:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7876:Adprhl1
|
UTSW |
8 |
13,273,509 (GRCm39) |
missense |
probably benign |
0.00 |
R7877:Adprhl1
|
UTSW |
8 |
13,275,316 (GRCm39) |
nonsense |
probably null |
|
R7926:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7928:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7944:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7945:Adprhl1
|
UTSW |
8 |
13,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7946:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7947:Adprhl1
|
UTSW |
8 |
13,298,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7949:Adprhl1
|
UTSW |
8 |
13,274,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8155:Adprhl1
|
UTSW |
8 |
13,271,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R8182:Adprhl1
|
UTSW |
8 |
13,272,774 (GRCm39) |
missense |
probably benign |
0.07 |
R8753:Adprhl1
|
UTSW |
8 |
13,272,118 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8799:Adprhl1
|
UTSW |
8 |
13,272,474 (GRCm39) |
missense |
probably benign |
0.00 |
R8893:Adprhl1
|
UTSW |
8 |
13,274,511 (GRCm39) |
missense |
probably benign |
0.11 |
R9022:Adprhl1
|
UTSW |
8 |
13,274,352 (GRCm39) |
missense |
probably benign |
0.00 |
R9161:Adprhl1
|
UTSW |
8 |
13,272,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R9227:Adprhl1
|
UTSW |
8 |
13,271,974 (GRCm39) |
missense |
probably benign |
0.27 |
R9228:Adprhl1
|
UTSW |
8 |
13,275,279 (GRCm39) |
missense |
probably benign |
|
R9283:Adprhl1
|
UTSW |
8 |
13,273,540 (GRCm39) |
missense |
probably benign |
|
R9426:Adprhl1
|
UTSW |
8 |
13,274,034 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9648:Adprhl1
|
UTSW |
8 |
13,273,245 (GRCm39) |
missense |
probably benign |
0.40 |
Z1176:Adprhl1
|
UTSW |
8 |
13,275,613 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Adprhl1
|
UTSW |
8 |
13,295,476 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATATTCTGGGCTCCGCTTG -3'
(R):5'- TTGGGTAGCAACAGCCAGAC -3'
Sequencing Primer
(F):5'- GCTTGGCCCCAGTGTTAC -3'
(R):5'- CTATTGCAAGGATCAAAGCCTCTGG -3'
|
Posted On |
2018-11-28 |