Incidental Mutation 'R4618:Adprhl1'
ID |
345101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
MMRRC Submission |
041884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4618 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 13292250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000204916]
|
AlphaFold |
Q8BGK2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033825
|
SMART Domains |
Protein: ENSMUSP00000033825 Gene: ENSMUSG00000031448
Domain | Start | End | E-Value | Type |
Pfam:ADP_ribosyl_GH
|
6 |
327 |
1.2e-53 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166438
|
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 null
Transcript: ENSMUST00000204916
|
SMART Domains |
Protein: ENSMUSP00000145145 Gene: ENSMUSG00000031448
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 |
0.9495 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (89/91) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
T |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
Adamtsl3 |
T |
A |
7: 82,255,728 (GRCm39) |
M1580K |
probably benign |
Het |
Akap3 |
G |
T |
6: 126,843,406 (GRCm39) |
C675F |
probably benign |
Het |
Asap1 |
A |
T |
15: 64,024,744 (GRCm39) |
H318Q |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,542,104 (GRCm39) |
A18S |
probably damaging |
Het |
Bcl2a1a |
A |
C |
9: 88,839,357 (GRCm39) |
N85T |
probably damaging |
Het |
Btnl6 |
G |
A |
17: 34,733,120 (GRCm39) |
P248S |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc14 |
T |
A |
16: 34,526,865 (GRCm39) |
C257S |
probably benign |
Het |
Cd5l |
A |
G |
3: 87,275,926 (GRCm39) |
T299A |
probably benign |
Het |
Cstdc3 |
T |
A |
16: 36,132,952 (GRCm39) |
D76E |
possibly damaging |
Het |
Endou |
C |
T |
15: 97,611,763 (GRCm39) |
V292M |
possibly damaging |
Het |
Fbxo36 |
T |
C |
1: 84,877,749 (GRCm39) |
I137T |
probably damaging |
Het |
Fcer1a |
T |
C |
1: 173,050,208 (GRCm39) |
I161V |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,103 (GRCm39) |
Y4612C |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,111,670 (GRCm39) |
L353* |
probably null |
Het |
Ghrhr |
T |
C |
6: 55,358,739 (GRCm39) |
F172S |
probably damaging |
Het |
Gins1 |
T |
A |
2: 150,759,781 (GRCm39) |
|
probably null |
Het |
Gm16519 |
T |
G |
17: 71,236,237 (GRCm39) |
L62R |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,498,965 (GRCm39) |
T283A |
probably benign |
Het |
Grin2c |
T |
A |
11: 115,143,573 (GRCm39) |
D729V |
probably damaging |
Het |
Heatr4 |
T |
G |
12: 84,024,841 (GRCm39) |
T327P |
probably damaging |
Het |
Hes2 |
A |
C |
4: 152,244,845 (GRCm39) |
S105R |
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,788 (GRCm39) |
D851E |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,472 (GRCm39) |
T785A |
probably benign |
Het |
Lmbr1 |
G |
T |
5: 29,551,863 (GRCm39) |
A74E |
probably damaging |
Het |
Lonp1 |
A |
C |
17: 56,929,511 (GRCm39) |
H175Q |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,531,371 (GRCm39) |
F195S |
probably damaging |
Het |
Man2b2 |
G |
T |
5: 36,974,983 (GRCm39) |
T436K |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,049,439 (GRCm39) |
|
probably null |
Het |
Mrps15 |
G |
A |
4: 125,940,837 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
C |
A |
10: 5,767,586 (GRCm39) |
V177F |
probably benign |
Het |
Naxd |
A |
T |
8: 11,559,489 (GRCm39) |
I213F |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,267,890 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,047 (GRCm39) |
I318V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,858,078 (GRCm39) |
I1297N |
probably damaging |
Het |
Nol10 |
T |
C |
12: 17,398,562 (GRCm39) |
V3A |
probably damaging |
Het |
Nop14 |
G |
T |
5: 34,796,562 (GRCm39) |
P765Q |
probably damaging |
Het |
Noxa1 |
C |
T |
2: 24,981,761 (GRCm39) |
G114D |
probably damaging |
Het |
Ntmt2 |
A |
T |
1: 163,552,597 (GRCm39) |
F10I |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,405,857 (GRCm39) |
W141R |
probably damaging |
Het |
Or10a2 |
G |
A |
7: 106,673,761 (GRCm39) |
C242Y |
probably damaging |
Het |
Or13p4 |
A |
T |
4: 118,546,667 (GRCm39) |
|
probably benign |
Het |
Or5d18 |
A |
G |
2: 87,864,898 (GRCm39) |
V195A |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,618 (GRCm39) |
I174T |
possibly damaging |
Het |
Pde4d |
A |
T |
13: 110,070,411 (GRCm39) |
M7L |
probably benign |
Het |
Phykpl |
G |
A |
11: 51,483,056 (GRCm39) |
A188T |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,403,078 (GRCm39) |
V2260D |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,395,765 (GRCm39) |
E1136G |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,420 (GRCm39) |
L353Q |
probably damaging |
Het |
Rfx4 |
G |
T |
10: 84,716,760 (GRCm39) |
A425S |
probably benign |
Het |
Rnf38 |
A |
G |
4: 44,142,450 (GRCm39) |
S169P |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,376,347 (GRCm39) |
V305F |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,523,883 (GRCm39) |
K164E |
probably benign |
Het |
Sirt6 |
A |
G |
10: 81,462,408 (GRCm39) |
L37P |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,361,962 (GRCm39) |
T141A |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,227,946 (GRCm39) |
T1563S |
probably benign |
Het |
Tbc1d14 |
A |
C |
5: 36,687,725 (GRCm39) |
|
probably benign |
Het |
Tbrg4 |
G |
A |
11: 6,570,185 (GRCm39) |
|
probably benign |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,400,913 (GRCm39) |
L38Q |
probably benign |
Het |
Trhr |
A |
G |
15: 44,061,037 (GRCm39) |
N186D |
probably benign |
Het |
Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
Tsen54 |
T |
A |
11: 115,706,247 (GRCm39) |
|
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,542,257 (GRCm39) |
I138T |
possibly damaging |
Het |
Usp22 |
A |
G |
11: 61,052,269 (GRCm39) |
S237P |
probably damaging |
Het |
Vmn1r209 |
A |
G |
13: 22,990,619 (GRCm39) |
S24P |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,424 (GRCm39) |
H233Q |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,436 (GRCm39) |
I284N |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,644,296 (GRCm39) |
I705V |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zdhhc11 |
T |
A |
13: 74,127,349 (GRCm39) |
M242K |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
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 |
|
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'- CACCTGTGAGACTTTGATGTGG -3'
(R):5'- TTTCTTGGACTCACAGTGACC -3'
Sequencing Primer
(F):5'- AACTGTATCTGTGGCCTACATG -3'
(R):5'- ACTCACAGTGACCCGTGGTTC -3'
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Posted On |
2015-09-25 |