Incidental Mutation 'R0636:Adprhl1'
| ID |
56682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
038825-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0636 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13298702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 76
(D76G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000204916]
|
| AlphaFold |
Q8BGK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033825
AA Change: D76G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: D76G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
6 |
327 |
1.2e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168498
|
| SMART Domains |
Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
69 |
196 |
9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171619
|
| SMART Domains |
Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
1 |
135 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204916
AA Change: D76G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: D76G
| 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 |
0.1429 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,414 (GRCm39) |
Y264C |
probably damaging |
Het |
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Aco1 |
A |
G |
4: 40,175,697 (GRCm39) |
E146G |
probably damaging |
Het |
| Adam2 |
T |
G |
14: 66,272,265 (GRCm39) |
D639A |
probably benign |
Het |
| Adh4 |
G |
T |
3: 138,133,835 (GRCm39) |
R315L |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,306,726 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,555,216 (GRCm39) |
K370* |
probably null |
Het |
| Arfgef1 |
C |
A |
1: 10,270,076 (GRCm39) |
V358L |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,566 (GRCm39) |
D85E |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,891,125 (GRCm39) |
L383F |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,481,222 (GRCm39) |
D206E |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,985,033 (GRCm39) |
D3007G |
unknown |
Het |
| Ccdc142 |
T |
G |
6: 83,084,179 (GRCm39) |
|
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,763,504 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,840,109 (GRCm39) |
Q1003L |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,273,642 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
G |
A |
15: 78,176,160 (GRCm39) |
Q139* |
probably null |
Het |
| Cyp3a16 |
A |
G |
5: 145,399,895 (GRCm39) |
V101A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,713 (GRCm39) |
T152A |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,181,096 (GRCm39) |
W176* |
probably null |
Het |
| Dgkg |
A |
G |
16: 22,398,479 (GRCm39) |
|
probably benign |
Het |
| Ear10 |
T |
C |
14: 44,160,451 (GRCm39) |
|
probably null |
Het |
| Fbxw2 |
A |
T |
2: 34,712,859 (GRCm39) |
Y67* |
probably null |
Het |
| Flii |
T |
A |
11: 60,606,378 (GRCm39) |
Y1104F |
probably damaging |
Het |
| Gm973 |
G |
A |
1: 59,590,303 (GRCm39) |
R270K |
probably benign |
Het |
| Gnl3 |
T |
A |
14: 30,739,110 (GRCm39) |
K75N |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 117,861,905 (GRCm39) |
M274L |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,987,478 (GRCm39) |
E415G |
possibly damaging |
Het |
| Ift57 |
A |
G |
16: 49,532,259 (GRCm39) |
T130A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,072,910 (GRCm39) |
D2373V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,429,339 (GRCm39) |
S1565P |
possibly damaging |
Het |
| Klhl6 |
A |
T |
16: 19,766,823 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
C |
6: 131,197,067 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,831,124 (GRCm39) |
|
probably null |
Het |
| Mapk4 |
A |
G |
18: 74,063,525 (GRCm39) |
S566P |
probably benign |
Het |
| Mindy4 |
C |
A |
6: 55,253,570 (GRCm39) |
R480S |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,817 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,713,209 (GRCm39) |
|
probably null |
Het |
| Myef2l |
T |
C |
3: 10,153,843 (GRCm39) |
L204P |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,196 (GRCm39) |
T1140A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,426,529 (GRCm39) |
T1648A |
probably damaging |
Het |
| Nlk |
A |
T |
11: 78,586,670 (GRCm39) |
D141E |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,976,106 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,757 (GRCm39) |
N69S |
probably benign |
Het |
| Or5b121 |
A |
T |
19: 13,507,613 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Or5p55 |
T |
C |
7: 107,566,679 (GRCm39) |
V25A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,913,652 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
T |
C |
14: 70,285,796 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
G |
T |
3: 98,240,607 (GRCm39) |
N100K |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,800 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,702,242 (GRCm39) |
H346R |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,226 (GRCm39) |
V652A |
possibly damaging |
Het |
| Rubcn |
G |
A |
16: 32,649,056 (GRCm39) |
H624Y |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,887,870 (GRCm39) |
R74G |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,644,153 (GRCm39) |
N656D |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,483,076 (GRCm39) |
T268A |
probably benign |
Het |
| Slc3a1 |
A |
T |
17: 85,340,222 (GRCm39) |
T215S |
possibly damaging |
Het |
| Srsf2 |
A |
G |
11: 116,742,904 (GRCm39) |
S206P |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,475,184 (GRCm39) |
D542V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,073,121 (GRCm39) |
Q2063* |
probably null |
Het |
| Syne2 |
G |
A |
12: 75,977,757 (GRCm39) |
V1401M |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,834,803 (GRCm39) |
L64P |
probably damaging |
Het |
| Tigd2 |
A |
G |
6: 59,188,272 (GRCm39) |
T380A |
possibly damaging |
Het |
| Trmt12 |
G |
T |
15: 58,745,834 (GRCm39) |
V411F |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,163,613 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,554,935 (GRCm39) |
C3571Y |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,562,030 (GRCm39) |
M75V |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,852,825 (GRCm39) |
D712N |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,860,386 (GRCm39) |
R327L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,253,683 (GRCm39) |
E8G |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,231,258 (GRCm39) |
D335G |
probably benign |
Het |
| Zbtb39 |
A |
G |
10: 127,578,704 (GRCm39) |
N426S |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,133,919 (GRCm39) |
D55E |
probably damaging |
Het |
| Zfp882 |
T |
C |
8: 72,668,181 (GRCm39) |
V336A |
probably benign |
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 |
|
|
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 |
|
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'- TGCTCAAGCAAGCTGGGATAGCTC -3'
(R):5'- TGAAGGTGGTGGATGTTCCCTAGAC -3'
Sequencing Primer
(F):5'- CTGTCAAAGGATCTGATCCAGATG -3'
(R):5'- GGATGTTCCCTAGACCCTCG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation