Incidental Mutation 'R5016:Adprhl1'
| ID |
512179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
042607-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5016 (G1)
|
| Quality Score |
192 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13274889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 623
(L623P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204916]
|
| AlphaFold |
Q8BGK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204916
AA Change: L623P
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: L623P
| 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: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
| Validation Efficiency |
97% (56/58) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
| Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
| Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
| Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
| Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
| Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
| Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
| Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
| Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
| Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
| St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
| Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2018-04-10 |
Incidental Mutation