Incidental Mutation 'R7362:Adprhl1'
| ID |
571423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
045375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7362 (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 13295534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 193
(R193K)
|
| 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: R193K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: R193K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
6 |
327 |
1.2e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168498
AA Change: R138K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448
AA Change: R138K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
69 |
196 |
9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171619
AA Change: R112K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
AA Change: R112K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
1 |
135 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204916
AA Change: R193K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: R193K
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
G |
T |
6: 48,882,345 (GRCm39) |
V74L |
probably benign |
Het |
| Bfsp1 |
G |
C |
2: 143,668,795 (GRCm39) |
P601A |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,591 (GRCm39) |
K108T |
probably benign |
Het |
| Btbd18 |
C |
T |
2: 84,491,887 (GRCm39) |
Q23* |
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,787,864 (GRCm39) |
I227M |
unknown |
Het |
| Cd151 |
G |
A |
7: 141,049,502 (GRCm39) |
V70I |
probably benign |
Het |
| Cdh10 |
A |
G |
15: 18,899,780 (GRCm39) |
T36A |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,680,211 (GRCm39) |
T380A |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,619,388 (GRCm39) |
S1829A |
possibly damaging |
Het |
| Dgat2 |
A |
T |
7: 98,803,843 (GRCm39) |
H359Q |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,441 (GRCm39) |
T298A |
probably benign |
Het |
| Egfem1 |
A |
G |
3: 29,206,069 (GRCm39) |
Q102R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,223,439 (GRCm39) |
|
probably null |
Het |
| Ern1 |
T |
A |
11: 106,327,949 (GRCm39) |
D61V |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,741,760 (GRCm39) |
R511Q |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,987,255 (GRCm39) |
V213A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,236,765 (GRCm39) |
D115G |
possibly damaging |
Het |
| Hoxd3 |
A |
G |
2: 74,574,563 (GRCm39) |
I70V |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,158,296 (GRCm39) |
I408V |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,383,208 (GRCm39) |
D759E |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,348,335 (GRCm39) |
T2787P |
unknown |
Het |
| Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
| Mkln1 |
T |
C |
6: 31,445,103 (GRCm39) |
I333T |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,439,033 (GRCm39) |
V227D |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,412 (GRCm39) |
F28L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,861 (GRCm39) |
Y265N |
probably damaging |
Het |
| Or7e171-ps1 |
C |
T |
9: 19,853,527 (GRCm39) |
D70N |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,302,453 (GRCm39) |
L1219P |
possibly damaging |
Het |
| Pde6g |
T |
C |
11: 120,338,950 (GRCm39) |
E80G |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,573,719 (GRCm39) |
Q304L |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,343 (GRCm39) |
L319P |
probably damaging |
Het |
| Prss23 |
C |
T |
7: 89,158,972 (GRCm39) |
A366T |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,008,422 (GRCm39) |
L560P |
probably damaging |
Het |
| Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,776,992 (GRCm39) |
V36E |
probably damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,515,189 (GRCm39) |
T695S |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,128,831 (GRCm39) |
Q1393L |
possibly damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,476 (GRCm39) |
F543L |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,907,910 (GRCm39) |
V999D |
possibly damaging |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,497 (GRCm39) |
Y186F |
probably damaging |
Het |
| Tnk2 |
A |
T |
16: 32,494,338 (GRCm39) |
|
probably null |
Het |
| Tram1 |
T |
C |
1: 13,659,832 (GRCm39) |
M39V |
probably benign |
Het |
| Uck2 |
C |
T |
1: 167,065,211 (GRCm39) |
V36I |
possibly damaging |
Het |
| Ugcg |
T |
A |
4: 59,217,109 (GRCm39) |
M211K |
probably damaging |
Het |
| Vash2 |
A |
T |
1: 190,692,496 (GRCm39) |
S226R |
probably damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,841 (GRCm39) |
M242K |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,451 (GRCm39) |
M817L |
probably benign |
Het |
| Vwa5b1 |
T |
C |
4: 138,321,623 (GRCm39) |
N390S |
probably damaging |
Het |
| Wdr73 |
T |
A |
7: 80,550,451 (GRCm39) |
D17V |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,866,050 (GRCm39) |
S501T |
possibly damaging |
Het |
| Zfp454 |
A |
G |
11: 50,777,194 (GRCm39) |
|
probably null |
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 |
|
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'- TTGGGGCAGTACAGCTATCC -3'
(R):5'- TGAAAAGGTGCCTTGCCTATC -3'
Sequencing Primer
(F):5'- AGTACAGCTATCCCTGCCG -3'
(R):5'- AGGTGCCTTGCCTATCATACAGAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation