Incidental Mutation 'R7776:Adprhl1'
| ID |
598897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
045832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,214 (GRCm39) |
|
probably null |
Het |
| Abca3 |
T |
A |
17: 24,605,250 (GRCm39) |
V716D |
possibly damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,478,215 (GRCm39) |
V232A |
probably damaging |
Het |
| Arhgef10l |
T |
A |
4: 140,302,642 (GRCm39) |
I271F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,584 (GRCm39) |
M2157K |
possibly damaging |
Het |
| Capn13 |
G |
A |
17: 73,629,049 (GRCm39) |
S586L |
probably benign |
Het |
| Cd3g |
A |
T |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,704,603 (GRCm39) |
Y2826N |
unknown |
Het |
| Cmas |
T |
C |
6: 142,710,283 (GRCm39) |
V134A |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,469,814 (GRCm39) |
H250R |
probably damaging |
Het |
| Dact1 |
G |
A |
12: 71,364,688 (GRCm39) |
A453T |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,179,623 (GRCm39) |
R506* |
probably null |
Het |
| Dph1 |
A |
G |
11: 75,081,272 (GRCm39) |
V5A |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,387,568 (GRCm39) |
Y255C |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,957 (GRCm39) |
T1715S |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,539,334 (GRCm39) |
H466Q |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,246,181 (GRCm39) |
N1056S |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,502 (GRCm39) |
Q250L |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,301 (GRCm39) |
V327A |
unknown |
Het |
| Gm10226 |
T |
A |
17: 21,910,866 (GRCm39) |
C34S |
possibly damaging |
Het |
| H2bc6 |
A |
T |
13: 23,769,938 (GRCm39) |
M1K |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,296,960 (GRCm39) |
S436P |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,753,991 (GRCm39) |
A21E |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 12,930,127 (GRCm39) |
E49V |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,290,942 (GRCm39) |
E76G |
|
Het |
| Naa60 |
T |
C |
16: 3,718,573 (GRCm39) |
I135T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,713 (GRCm39) |
Y4924C |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,656 (GRCm39) |
I275F |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,636,174 (GRCm39) |
V425A |
possibly damaging |
Het |
| Nucb2 |
T |
A |
7: 116,128,248 (GRCm39) |
D286E |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,420 (GRCm39) |
G755S |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,429 (GRCm39) |
T316A |
probably damaging |
Het |
| Padi2 |
T |
A |
4: 140,651,656 (GRCm39) |
D135E |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,103,034 (GRCm39) |
S742R |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,007 (GRCm39) |
S601T |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,826,246 (GRCm39) |
N249S |
unknown |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prr15l |
T |
C |
11: 96,825,390 (GRCm39) |
W7R |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,368 (GRCm39) |
H1431Y |
possibly damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,592 (GRCm39) |
Q286* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,783,453 (GRCm39) |
I1149T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,674,086 (GRCm39) |
I80V |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,588,033 (GRCm39) |
D497G |
probably benign |
Het |
| Slc43a1 |
T |
A |
2: 84,671,197 (GRCm39) |
M44K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,890,035 (GRCm39) |
V841E |
possibly damaging |
Het |
| Stip1 |
T |
A |
19: 6,999,141 (GRCm39) |
H479L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,100,355 (GRCm39) |
Y1486H |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,282 (GRCm39) |
D324G |
probably damaging |
Het |
| Tgif1 |
T |
A |
17: 71,158,452 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,681,605 (GRCm39) |
E216G |
probably benign |
Het |
| Tmprss7 |
C |
A |
16: 45,488,014 (GRCm39) |
A472S |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,897,939 (GRCm39) |
F1191I |
probably benign |
Het |
| Tspan12 |
T |
A |
6: 21,836,442 (GRCm39) |
N40I |
probably damaging |
Het |
| Ttll3 |
AAGTA |
AAGTACAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Unc13c |
A |
T |
9: 73,602,232 (GRCm39) |
I1338N |
probably damaging |
Het |
| Vegfc |
T |
A |
8: 54,530,835 (GRCm39) |
S8T |
unknown |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,634 (GRCm39) |
Q42L |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,043,934 (GRCm39) |
I337F |
probably damaging |
Het |
| Xylb |
G |
A |
9: 119,209,766 (GRCm39) |
|
probably null |
Het |
| Zfp551 |
T |
A |
7: 12,152,569 (GRCm39) |
I55F |
probably damaging |
Het |
| Zfp972 |
T |
C |
2: 177,563,532 (GRCm39) |
N27S |
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 |
|
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'- GAATACCACACCAAGTGTCGG -3'
(R):5'- TGGATGTTCCCTAGACCCTC -3'
Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- ATGTTCCCTAGACCCTCGGGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation