Incidental Mutation 'R7773:Adprhl1'
ID |
598714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprhl1
|
Ensembl Gene |
ENSMUSG00000031448 |
Gene Name |
ADP-ribosylhydrolase like 1 |
Synonyms |
D330008N11Rik, Arh2 |
MMRRC Submission |
045829-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7773 (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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (55/56) |
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 |
1700006A11Rik |
A |
G |
3: 124,206,180 (GRCm39) |
I336T |
probably benign |
Het |
4930519P11Rik |
T |
C |
2: 154,455,107 (GRCm39) |
Y84C |
unknown |
Het |
4930568D16Rik |
C |
T |
2: 35,244,606 (GRCm39) |
G249S |
probably damaging |
Het |
AAdacl4fm3 |
A |
T |
4: 144,430,047 (GRCm39) |
L314Q |
probably damaging |
Het |
Agbl1 |
T |
A |
7: 76,348,585 (GRCm39) |
V894E |
unknown |
Het |
Amigo3 |
T |
C |
9: 107,931,867 (GRCm39) |
L430P |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,883,146 (GRCm39) |
I341V |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,990,055 (GRCm39) |
S223P |
probably benign |
Het |
Cacnb3 |
T |
C |
15: 98,537,819 (GRCm39) |
|
probably null |
Het |
Ccdc63 |
G |
T |
5: 122,247,335 (GRCm39) |
N503K |
probably damaging |
Het |
Ccdc83 |
T |
A |
7: 89,879,120 (GRCm39) |
I225F |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,050 (GRCm39) |
T90A |
possibly damaging |
Het |
Cd8a |
A |
G |
6: 71,350,799 (GRCm39) |
N88S |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,567,642 (GRCm39) |
V152A |
|
Het |
Chid1 |
T |
C |
7: 141,109,518 (GRCm39) |
M123V |
probably benign |
Het |
Cnnm4 |
T |
C |
1: 36,538,603 (GRCm39) |
V595A |
probably benign |
Het |
Coro7 |
A |
G |
16: 4,449,870 (GRCm39) |
L630P |
probably damaging |
Het |
Cpvl |
A |
G |
6: 53,908,890 (GRCm39) |
|
probably null |
Het |
Edem3 |
A |
T |
1: 151,687,347 (GRCm39) |
K762* |
probably null |
Het |
Elp6 |
T |
A |
9: 110,141,627 (GRCm39) |
|
probably null |
Het |
Emilin3 |
A |
T |
2: 160,752,718 (GRCm39) |
Y77* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,220,912 (GRCm39) |
I641N |
probably benign |
Het |
Farsa |
T |
C |
8: 85,590,781 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
C |
13: 31,811,182 (GRCm39) |
S374P |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,667 (GRCm39) |
I151N |
unknown |
Het |
Gm9817 |
C |
T |
13: 45,232,427 (GRCm39) |
Q77* |
probably null |
Het |
Gon4l |
A |
G |
3: 88,803,102 (GRCm39) |
K1238E |
probably benign |
Het |
H13 |
A |
G |
2: 152,537,431 (GRCm39) |
Y292C |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,139,504 (GRCm39) |
N928S |
probably benign |
Het |
Iqcf4 |
T |
C |
9: 106,445,812 (GRCm39) |
N112D |
probably benign |
Het |
Jak3 |
A |
C |
8: 72,131,686 (GRCm39) |
T125P |
probably benign |
Het |
Krt7 |
A |
C |
15: 101,311,913 (GRCm39) |
K124Q |
possibly damaging |
Het |
Ldc1 |
T |
C |
4: 130,114,169 (GRCm39) |
N83D |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,664 (GRCm39) |
S793F |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,485,840 (GRCm39) |
V1074I |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,581 (GRCm39) |
D657G |
probably benign |
Het |
Nt5el |
A |
G |
13: 105,218,793 (GRCm39) |
I42M |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,598 (GRCm39) |
V202E |
probably benign |
Het |
Or8k21 |
T |
C |
2: 86,145,034 (GRCm39) |
I199V |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,941,548 (GRCm39) |
S24G |
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,762,610 (GRCm39) |
E1385* |
probably null |
Het |
Poc5 |
A |
G |
13: 96,547,143 (GRCm39) |
T469A |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,596,222 (GRCm39) |
T296A |
probably benign |
Het |
Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Rnf149 |
A |
C |
1: 39,604,299 (GRCm39) |
M188R |
possibly damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,041 (GRCm39) |
I31V |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,797,592 (GRCm39) |
S32P |
probably damaging |
Het |
Sirt1 |
T |
A |
10: 63,162,562 (GRCm39) |
K137M |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,923,496 (GRCm39) |
Y251C |
probably damaging |
Het |
Sod3 |
A |
C |
5: 52,525,643 (GRCm39) |
E114A |
possibly damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,288,368 (GRCm39) |
V431A |
probably benign |
Het |
Tlr4 |
T |
C |
4: 66,757,836 (GRCm39) |
S210P |
probably damaging |
Het |
Trub2 |
G |
T |
2: 29,676,520 (GRCm39) |
T70N |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,874,323 (GRCm39) |
C159S |
unknown |
Het |
Vmn1r15 |
A |
T |
6: 57,235,644 (GRCm39) |
I171F |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,562 (GRCm39) |
H713L |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,378,514 (GRCm39) |
S43G |
unknown |
Het |
Zfp638 |
T |
C |
6: 83,956,196 (GRCm39) |
I1601T |
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 |
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'- GGAATACCACACCAAGTGTCG -3'
(R):5'- TGGATGTTCCCTAGACCCTC -3'
Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- ATGTTCCCTAGACCCTCGGGAC -3'
|
Posted On |
2019-11-26 |