Incidental Mutation 'R8753:Adprhl1'
ID |
663978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
MMRRC Submission |
068619-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8753 (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 13272118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1547
(K1547E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204916]
|
AlphaFold |
Q8BGK2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204916
AA Change: K1547E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145145 Gene: ENSMUSG00000031448 AA Change: K1547E
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (59/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,332,706 (GRCm39) |
Y1496H |
probably damaging |
Het |
Acan |
G |
A |
7: 78,748,516 (GRCm39) |
E1096K |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Arf4 |
T |
A |
14: 26,374,114 (GRCm39) |
|
probably benign |
Het |
Boc |
A |
T |
16: 44,320,775 (GRCm39) |
M295K |
|
Het |
C2cd3 |
T |
A |
7: 100,049,024 (GRCm39) |
|
probably null |
Het |
Calcrl |
C |
G |
2: 84,178,659 (GRCm39) |
G223A |
probably benign |
Het |
Calcrl |
C |
A |
2: 84,178,661 (GRCm39) |
M222I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Ccz1 |
A |
G |
5: 143,925,050 (GRCm39) |
C469R |
probably benign |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,223,958 (GRCm39) |
G251S |
probably damaging |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Cpox |
T |
A |
16: 58,498,391 (GRCm39) |
M408K |
probably damaging |
Het |
Crybb3 |
A |
G |
5: 113,226,247 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
T |
2: 13,313,377 (GRCm39) |
C3064* |
probably null |
Het |
Cxcl3 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTG |
5: 90,934,071 (GRCm39) |
|
probably benign |
Het |
Cyp4a31 |
A |
T |
4: 115,432,158 (GRCm39) |
S432C |
probably benign |
Het |
Ddias |
A |
T |
7: 92,508,668 (GRCm39) |
F416I |
probably damaging |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnttip2 |
A |
G |
3: 122,074,398 (GRCm39) |
T612A |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,400,867 (GRCm39) |
T1089A |
probably damaging |
Het |
Gm12117 |
A |
T |
11: 33,225,953 (GRCm39) |
L128M |
probably benign |
Het |
Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
Ibtk |
T |
C |
9: 85,610,819 (GRCm39) |
T285A |
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,301,223 (GRCm39) |
N818K |
unknown |
Het |
Itga10 |
T |
G |
3: 96,558,471 (GRCm39) |
L305R |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,125,223 (GRCm39) |
Y461H |
possibly damaging |
Het |
Macroh2a2 |
T |
C |
10: 61,585,113 (GRCm39) |
D177G |
possibly damaging |
Het |
Mbtps1 |
T |
C |
8: 120,235,601 (GRCm39) |
S1026G |
possibly damaging |
Het |
Msantd4 |
A |
G |
9: 4,385,013 (GRCm39) |
E246G |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,575,085 (GRCm39) |
I737V |
probably damaging |
Het |
Nav2 |
T |
G |
7: 49,102,320 (GRCm39) |
S373A |
probably benign |
Het |
Nbea |
T |
C |
3: 55,534,329 (GRCm39) |
Y2936C |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,307,542 (GRCm39) |
I1685F |
probably damaging |
Het |
Nt5c3 |
C |
G |
6: 56,860,677 (GRCm39) |
G293R |
probably damaging |
Het |
Or4f14c |
A |
T |
2: 111,940,802 (GRCm39) |
V265E |
probably benign |
Het |
Or52z1 |
T |
A |
7: 103,436,567 (GRCm39) |
I306F |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,613,999 (GRCm39) |
V484E |
probably benign |
Het |
Pcsk5 |
C |
T |
19: 17,446,408 (GRCm39) |
R1195Q |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
A |
G |
11: 71,942,704 (GRCm39) |
V861A |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,793,176 (GRCm39) |
Y1621C |
probably damaging |
Het |
Polr3a |
C |
A |
14: 24,513,702 (GRCm39) |
E846* |
probably null |
Het |
Polr3e |
T |
C |
7: 120,539,540 (GRCm39) |
V455A |
possibly damaging |
Het |
Prr5l |
C |
T |
2: 101,571,723 (GRCm39) |
G118D |
probably damaging |
Het |
Pygl |
G |
T |
12: 70,242,400 (GRCm39) |
N685K |
probably damaging |
Het |
Rfx8 |
A |
G |
1: 39,757,600 (GRCm39) |
V56A |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,179,662 (GRCm39) |
D1341G |
probably benign |
Het |
Selenon |
T |
C |
4: 134,275,330 (GRCm39) |
T123A |
probably benign |
Het |
Slc23a1 |
T |
G |
18: 35,752,631 (GRCm39) |
K549Q |
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,841,443 (GRCm39) |
F430S |
probably damaging |
Het |
Smarcc2 |
G |
A |
10: 128,319,070 (GRCm39) |
V707M |
probably damaging |
Het |
St18 |
A |
G |
1: 6,916,015 (GRCm39) |
S887G |
probably damaging |
Het |
T2 |
T |
C |
17: 8,615,477 (GRCm39) |
|
probably benign |
Het |
Tbc1d16 |
A |
G |
11: 119,101,492 (GRCm39) |
L6P |
probably damaging |
Het |
Tcf7l2 |
T |
C |
19: 55,920,195 (GRCm39) |
L576P |
possibly damaging |
Het |
Tnr |
A |
G |
1: 159,677,936 (GRCm39) |
D107G |
probably benign |
Het |
Trpv1 |
G |
T |
11: 73,135,082 (GRCm39) |
K426N |
probably damaging |
Het |
Vmn1r15 |
A |
T |
6: 57,235,895 (GRCm39) |
L254F |
probably benign |
Het |
Vmn1r219 |
A |
T |
13: 23,347,191 (GRCm39) |
I127F |
probably damaging |
Het |
Zc3h14 |
A |
T |
12: 98,724,831 (GRCm39) |
E164D |
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 |
|
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 |
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'- CAGGAAGCGTCATGTGTGTTCTC -3'
(R):5'- TACCGGTGGAGGAGAATTCC -3'
Sequencing Primer
(F):5'- TGGTCCTGCTACTAGCCAGAC -3'
(R):5'- ACTCAAGGAGGAAGTCTC -3'
|
Posted On |
2021-03-08 |