Incidental Mutation 'R7945:Adprhl1'
| ID |
649293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13271929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1610
(R1610W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204916]
|
| AlphaFold |
Q8BGK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204916
AA Change: R1610W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: R1610W
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
A |
8: 124,216,661 (GRCm39) |
A300E |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,839,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,010,670 (GRCm39) |
T346S |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,020,042 (GRCm39) |
V2093I |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,909 (GRCm39) |
T1661A |
probably benign |
Het |
| Cdc42ep1 |
T |
A |
15: 78,731,973 (GRCm39) |
S139R |
possibly damaging |
Het |
| Cep57 |
A |
G |
9: 13,730,227 (GRCm39) |
Y104H |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,670,454 (GRCm39) |
D434G |
probably benign |
Het |
| Clec1a |
T |
C |
6: 129,409,150 (GRCm39) |
S159G |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,627,967 (GRCm39) |
N60K |
probably benign |
Het |
| Cpq |
T |
A |
15: 33,594,382 (GRCm39) |
D464E |
probably benign |
Het |
| Ctcfl |
A |
C |
2: 172,960,451 (GRCm39) |
V44G |
probably benign |
Het |
| Dcstamp |
T |
A |
15: 39,623,797 (GRCm39) |
*471R |
probably null |
Het |
| Disp2 |
G |
A |
2: 118,623,270 (GRCm39) |
R1334H |
probably damaging |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,040,434 (GRCm39) |
T811A |
probably damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,146,212 (GRCm39) |
Y612H |
possibly damaging |
Het |
| Gm8005 |
T |
A |
14: 42,260,330 (GRCm39) |
D102V |
|
Het |
| Golgb1 |
T |
C |
16: 36,734,466 (GRCm39) |
S1279P |
probably benign |
Het |
| Hdgfl3 |
T |
C |
7: 81,583,706 (GRCm39) |
Y22C |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 43,373,248 (GRCm39) |
N127S |
probably benign |
Het |
| Hrnr |
G |
T |
3: 93,239,506 (GRCm39) |
G3248V |
unknown |
Het |
| Krtap27-1 |
T |
C |
16: 88,468,340 (GRCm39) |
N68S |
probably benign |
Het |
| Lipo3 |
T |
C |
19: 33,533,831 (GRCm39) |
M334V |
probably benign |
Het |
| Lrrc34 |
A |
G |
3: 30,696,886 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
T |
G |
17: 75,697,546 (GRCm39) |
*1713G |
probably null |
Het |
| Lypd6b |
A |
G |
2: 49,833,612 (GRCm39) |
E84G |
probably damaging |
Het |
| Meiosin |
T |
A |
7: 18,834,011 (GRCm39) |
K508N |
unknown |
Het |
| Mitd1 |
T |
C |
1: 37,924,346 (GRCm39) |
Y68C |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,496,554 (GRCm39) |
E278K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,495,254 (GRCm39) |
V437A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,161,360 (GRCm39) |
D2144G |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,984,235 (GRCm39) |
E1740V |
probably damaging |
Het |
| Or2bd2 |
A |
G |
7: 6,443,354 (GRCm39) |
T152A |
probably benign |
Het |
| Or8i2 |
A |
G |
2: 86,852,657 (GRCm39) |
V77A |
probably benign |
Het |
| Pcsk1 |
G |
A |
13: 75,280,211 (GRCm39) |
A679T |
probably benign |
Het |
| Pdap1 |
G |
A |
5: 145,068,249 (GRCm39) |
A138V |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,455 (GRCm39) |
T958A |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,526,201 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Ppat |
C |
A |
5: 77,063,238 (GRCm39) |
V458L |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,116,831 (GRCm39) |
L435P |
probably damaging |
Het |
| Rtn2 |
T |
A |
7: 19,020,987 (GRCm39) |
S153R |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,070,192 (GRCm39) |
H123Q |
probably benign |
Het |
| Slc1a5 |
C |
A |
7: 16,523,807 (GRCm39) |
R271S |
possibly damaging |
Het |
| Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
| Slc7a6 |
C |
T |
8: 106,906,239 (GRCm39) |
P157L |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,951,079 (GRCm39) |
E410V |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,626,085 (GRCm39) |
S1288R |
probably benign |
Het |
| Thoc2l |
G |
T |
5: 104,666,413 (GRCm39) |
V312F |
possibly damaging |
Het |
| Treh |
T |
C |
9: 44,592,584 (GRCm39) |
V63A |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,382,156 (GRCm39) |
W3R |
probably benign |
Het |
| Ttc6 |
T |
G |
12: 57,707,229 (GRCm39) |
L712R |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,715,309 (GRCm39) |
Q7928K |
unknown |
Het |
| Ugt3a1 |
T |
C |
15: 9,284,261 (GRCm39) |
|
probably null |
Het |
| Wapl |
T |
C |
14: 34,399,105 (GRCm39) |
I58T |
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,356,409 (GRCm39) |
E545G |
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,238,436 (GRCm39) |
I6N |
possibly damaging |
Het |
| Zp3r |
G |
T |
1: 130,524,560 (GRCm39) |
P226Q |
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 |
|
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 |
|
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'- CTTTGGGCGCGATACTTTGC -3'
(R):5'- AACCCTACGAAGTCTTGTGG -3'
Sequencing Primer
(F):5'- GCAAAGTGCACCGACCTG -3'
(R):5'- CCTGGCTTTGCAGAAACAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation