Incidental Mutation 'R7946:Adprhl1'
| ID |
649359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
045991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13298682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 83
(V83I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000204916]
|
| AlphaFold |
Q8BGK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033825
AA Change: V83I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: V83I
| 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 damaging
Transcript: ENSMUST00000171619
AA Change: V2I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
AA Change: V2I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
1 |
135 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204916
AA Change: V83I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: V83I
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,398 (GRCm39) |
T1186A |
probably benign |
Het |
| Afap1 |
A |
G |
5: 36,092,995 (GRCm39) |
N33S |
probably benign |
Het |
| Afap1 |
G |
A |
5: 36,141,396 (GRCm39) |
|
probably null |
Het |
| Ampd3 |
A |
G |
7: 110,377,147 (GRCm39) |
D46G |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,707 (GRCm39) |
K246R |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,030,290 (GRCm39) |
V192M |
probably damaging |
Het |
| Aspscr1 |
T |
G |
11: 120,599,443 (GRCm39) |
S132A |
|
Het |
| Atp2b4 |
C |
A |
1: 133,658,320 (GRCm39) |
R530L |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,325 (GRCm39) |
V541A |
probably benign |
Het |
| Caprin1 |
A |
T |
2: 103,603,093 (GRCm39) |
V490E |
probably damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,643,627 (GRCm39) |
K734M |
probably damaging |
Het |
| Ccdc9b |
G |
T |
2: 118,590,146 (GRCm39) |
P233T |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,812,882 (GRCm39) |
K138R |
probably benign |
Het |
| Cela2a |
A |
G |
4: 141,549,617 (GRCm39) |
S53P |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,513,075 (GRCm39) |
|
probably null |
Het |
| Cntrob |
T |
C |
11: 69,206,047 (GRCm39) |
E373G |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,414,058 (GRCm39) |
Y2633H |
|
Het |
| Ctbp1 |
A |
T |
5: 33,407,688 (GRCm39) |
M296K |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,303,501 (GRCm39) |
Q1468K |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,272,739 (GRCm39) |
F2289S |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,779,452 (GRCm39) |
D364V |
possibly damaging |
Het |
| Ggt7 |
G |
T |
2: 155,347,892 (GRCm39) |
H180Q |
probably damaging |
Het |
| Gm14399 |
A |
T |
2: 174,973,273 (GRCm39) |
C161S |
probably damaging |
Het |
| Gm17324 |
T |
C |
9: 78,355,794 (GRCm39) |
T62A |
unknown |
Het |
| Gpr107 |
A |
G |
2: 31,078,716 (GRCm39) |
I384V |
probably damaging |
Het |
| Igsf10 |
C |
A |
3: 59,227,125 (GRCm39) |
V2183L |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,411,648 (GRCm39) |
H363L |
possibly damaging |
Het |
| Inka2 |
T |
A |
3: 105,623,761 (GRCm39) |
L45H |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,667,252 (GRCm39) |
I291N |
probably damaging |
Het |
| Kcnc3 |
A |
T |
7: 44,245,569 (GRCm39) |
T620S |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,466,571 (GRCm39) |
N571D |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,766,072 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,584,991 (GRCm39) |
N55S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,102,746 (GRCm39) |
D4509G |
probably damaging |
Het |
| Obox1 |
G |
T |
7: 15,289,456 (GRCm39) |
V82F |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,585,163 (GRCm39) |
M190L |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,703,053 (GRCm39) |
D179G |
probably benign |
Het |
| Or7e174 |
T |
C |
9: 20,012,780 (GRCm39) |
S242P |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,710,045 (GRCm39) |
N330I |
probably damaging |
Het |
| Phf21a |
A |
T |
2: 92,189,512 (GRCm39) |
E590D |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,574,287 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
T |
C |
9: 72,524,096 (GRCm39) |
Y429H |
probably damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,878,606 (GRCm39) |
A77E |
probably benign |
Het |
| Stra8 |
A |
G |
6: 34,907,816 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,200,919 (GRCm39) |
S3550P |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,657,693 (GRCm39) |
H249Q |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,107,969 (GRCm39) |
E22G |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,704 (GRCm39) |
|
probably null |
Het |
| Trim43b |
A |
G |
9: 88,973,538 (GRCm39) |
I65T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,739 (GRCm39) |
M640T |
possibly damaging |
Het |
| Vegfa |
A |
T |
17: 46,336,377 (GRCm39) |
Y248N |
probably damaging |
Het |
| Vmn1r172 |
T |
G |
7: 23,358,857 (GRCm39) |
|
probably null |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,834 (GRCm39) |
V185F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Wdfy4 |
T |
C |
14: 32,792,705 (GRCm39) |
K2114E |
|
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 |
|
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'- ATACCACACCAAGTGTCGG -3'
(R):5'- TGGATGTTCCCTAGACCCTC -3'
Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- ATGTTCCCTAGACCCTCGGGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation