Incidental Mutation 'R6221:Adprhl1'
ID |
504028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
MMRRC Submission |
044432-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6221 (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 C
at 13275634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 375
(I375V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204916]
|
AlphaFold |
Q8BGK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000204916
AA Change: I375V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000145145 Gene: ENSMUSG00000031448 AA Change: I375V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
99% (66/67) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,824,874 (GRCm39) |
M108V |
probably benign |
Het |
Adgrl1 |
C |
T |
8: 84,664,316 (GRCm39) |
Q1236* |
probably null |
Het |
Bsn |
A |
G |
9: 107,982,765 (GRCm39) |
S3663P |
unknown |
Het |
Cfap44 |
A |
T |
16: 44,257,549 (GRCm39) |
Q1028L |
probably benign |
Het |
Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
Col1a2 |
T |
C |
6: 4,539,490 (GRCm39) |
S1253P |
unknown |
Het |
Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,004,799 (GRCm39) |
Y949C |
probably damaging |
Het |
E130311K13Rik |
T |
C |
3: 63,823,152 (GRCm39) |
Y164C |
probably benign |
Het |
Evx1 |
T |
A |
6: 52,293,768 (GRCm39) |
V312E |
probably damaging |
Het |
Fam240b |
T |
C |
13: 64,629,591 (GRCm39) |
N75S |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,186,898 (GRCm39) |
|
probably null |
Het |
Fbn1 |
G |
T |
2: 125,162,841 (GRCm39) |
D2148E |
probably benign |
Het |
Fzd4 |
A |
G |
7: 89,054,100 (GRCm39) |
H69R |
probably damaging |
Het |
Fzd6 |
T |
C |
15: 38,894,239 (GRCm39) |
V135A |
probably benign |
Het |
Gimap8 |
T |
C |
6: 48,635,876 (GRCm39) |
L547S |
probably damaging |
Het |
Gnrhr |
G |
A |
5: 86,333,262 (GRCm39) |
Q203* |
probably null |
Het |
Gpaa1 |
T |
G |
15: 76,218,032 (GRCm39) |
V341G |
probably benign |
Het |
Grik3 |
T |
A |
4: 125,598,916 (GRCm39) |
L828Q |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,074,383 (GRCm39) |
N1568S |
probably benign |
Het |
Hpf1 |
T |
A |
8: 61,346,808 (GRCm39) |
V41E |
probably damaging |
Het |
Hsd3b1 |
A |
T |
3: 98,760,472 (GRCm39) |
M173K |
probably benign |
Het |
Hsd3b6 |
A |
G |
3: 98,713,849 (GRCm39) |
I150T |
probably benign |
Het |
Ica1 |
C |
G |
6: 8,644,181 (GRCm39) |
L369F |
possibly damaging |
Het |
Inf2 |
T |
G |
12: 112,570,179 (GRCm39) |
S293A |
possibly damaging |
Het |
Klra10 |
T |
C |
6: 130,246,235 (GRCm39) |
T247A |
probably benign |
Het |
Kpna1 |
G |
A |
16: 35,841,058 (GRCm39) |
G91D |
probably benign |
Het |
Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
Ltb4r2 |
C |
T |
14: 55,999,540 (GRCm39) |
R54W |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,299,643 (GRCm39) |
F1797S |
probably benign |
Het |
Mlh3 |
C |
A |
12: 85,315,192 (GRCm39) |
Q331H |
possibly damaging |
Het |
Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
Odad1 |
T |
C |
7: 45,596,903 (GRCm39) |
L410P |
probably damaging |
Het |
Or5b124 |
T |
A |
19: 13,610,830 (GRCm39) |
Y118* |
probably null |
Het |
Oxct2b |
T |
C |
4: 123,010,601 (GRCm39) |
Y174H |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,855,618 (GRCm39) |
Q559* |
probably null |
Het |
Pclo |
G |
A |
5: 14,725,327 (GRCm39) |
R1395Q |
unknown |
Het |
Ppara |
A |
G |
15: 85,661,881 (GRCm39) |
I41V |
probably benign |
Het |
Ppip5k2 |
A |
T |
1: 97,657,753 (GRCm39) |
I766K |
probably damaging |
Het |
Ppm1j |
A |
G |
3: 104,693,092 (GRCm39) |
N483S |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,336,236 (GRCm39) |
I1478T |
probably benign |
Het |
Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
Rsl1d1 |
A |
G |
16: 11,019,175 (GRCm39) |
V121A |
probably damaging |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,702,316 (GRCm39) |
Q610R |
probably null |
Het |
Slc1a6 |
A |
G |
10: 78,635,910 (GRCm39) |
E325G |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,839,305 (GRCm39) |
I303V |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,630,362 (GRCm39) |
V1123E |
probably damaging |
Het |
Smco1 |
G |
A |
16: 32,092,023 (GRCm39) |
V34I |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,197,949 (GRCm39) |
R304G |
probably benign |
Het |
Spata31f1e |
A |
T |
4: 42,793,153 (GRCm39) |
N326K |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,009,342 (GRCm39) |
D293G |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,440,639 (GRCm39) |
P1751Q |
probably damaging |
Het |
Syt14 |
A |
T |
1: 192,612,908 (GRCm39) |
Y631N |
probably damaging |
Het |
Taar3 |
A |
G |
10: 23,825,970 (GRCm39) |
N172S |
possibly damaging |
Het |
Tank |
A |
G |
2: 61,480,427 (GRCm39) |
E321G |
probably damaging |
Het |
Tcstv5 |
T |
G |
13: 120,411,534 (GRCm39) |
H24P |
probably damaging |
Het |
Thbs1 |
C |
A |
2: 117,950,478 (GRCm39) |
L704M |
probably damaging |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Togaram1 |
A |
T |
12: 65,013,320 (GRCm39) |
E190D |
probably damaging |
Het |
Traf1 |
A |
C |
2: 34,838,313 (GRCm39) |
V175G |
probably benign |
Het |
Trib3 |
A |
T |
2: 152,180,528 (GRCm39) |
C222S |
probably damaging |
Het |
Tsen34 |
T |
A |
7: 3,698,543 (GRCm39) |
I229N |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,419,114 (GRCm39) |
D1370G |
probably benign |
Het |
Ugt1a5 |
G |
A |
1: 88,093,964 (GRCm39) |
R64H |
probably benign |
Het |
Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
Vdac3 |
A |
G |
8: 23,078,759 (GRCm39) |
V17A |
possibly damaging |
Het |
Yif1b |
C |
T |
7: 28,945,207 (GRCm39) |
T220I |
possibly damaging |
Het |
Zfp846 |
T |
G |
9: 20,504,591 (GRCm39) |
H150Q |
possibly damaging |
Het |
Zwilch |
A |
T |
9: 64,068,665 (GRCm39) |
H181Q |
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 |
R6971:Adprhl1
|
UTSW |
8 |
13,273,476 (GRCm39) |
missense |
probably benign |
|
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'- GTAGAAGCTGGAACCGTGTG -3'
(R):5'- TCCTGAGAATGAGGCACAGG -3'
Sequencing Primer
(F):5'- GTGTGGGTCTCCGGCCC -3'
(R):5'- GAAAATGCCCCACAGGTTTGTTTG -3'
|
Posted On |
2018-02-28 |