Incidental Mutation 'R2184:Adprhl1'
| ID |
237351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
040186-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2184 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13271663-13304162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13292559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 244
(V244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000204916]
|
| AlphaFold |
Q8BGK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033825
AA Change: V244A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
AA Change: V244A
| 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
AA Change: V189A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448
AA Change: V189A
| 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 benign
Transcript: ENSMUST00000204916
AA Change: V244A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
AA Change: V244A
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,019,389 (GRCm39) |
R184G |
probably damaging |
Het |
| 2300002M23Rik |
C |
A |
17: 35,879,115 (GRCm39) |
A151E |
probably benign |
Het |
| A930011G23Rik |
C |
T |
5: 99,380,228 (GRCm39) |
R339Q |
possibly damaging |
Het |
| Abcd2 |
T |
C |
15: 91,075,642 (GRCm39) |
Y57C |
probably benign |
Het |
| Agl |
T |
C |
3: 116,574,426 (GRCm39) |
N753D |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,686 (GRCm39) |
M440L |
probably benign |
Het |
| Angpt2 |
A |
G |
8: 18,742,132 (GRCm39) |
Y475H |
probably benign |
Het |
| Angpt4 |
A |
T |
2: 151,780,874 (GRCm39) |
H374L |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,599,270 (GRCm39) |
T801S |
probably damaging |
Het |
| Ap5m1 |
G |
T |
14: 49,323,752 (GRCm39) |
A481S |
probably damaging |
Het |
| AY358078 |
G |
T |
14: 52,063,445 (GRCm39) |
G364W |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,956,676 (GRCm39) |
A641S |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,672,943 (GRCm39) |
Y120C |
probably damaging |
Het |
| Cbx6 |
T |
C |
15: 79,712,762 (GRCm39) |
T222A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,860,254 (GRCm39) |
T192A |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,478 (GRCm39) |
D30G |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,043,690 (GRCm39) |
Y385H |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,584,542 (GRCm39) |
D612E |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,182,847 (GRCm39) |
R888L |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,517,007 (GRCm39) |
C373* |
probably null |
Het |
| Gabrb2 |
T |
C |
11: 42,312,255 (GRCm39) |
|
probably null |
Het |
| Gle1 |
G |
T |
2: 29,839,030 (GRCm39) |
A482S |
probably damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,256 (GRCm39) |
T30A |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,706 (GRCm39) |
Y95H |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,858,100 (GRCm39) |
S643T |
possibly damaging |
Het |
| Hoga1 |
A |
G |
19: 42,049,830 (GRCm39) |
Y225C |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,609,011 (GRCm39) |
E11G |
probably benign |
Het |
| Hsd17b1 |
C |
A |
11: 100,969,357 (GRCm39) |
S30R |
probably benign |
Het |
| Htr3b |
G |
A |
9: 48,858,544 (GRCm39) |
P112S |
probably damaging |
Het |
| Iqch |
T |
A |
9: 63,432,351 (GRCm39) |
D348V |
probably damaging |
Het |
| Irgm2 |
A |
T |
11: 58,111,254 (GRCm39) |
N327I |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,870,450 (GRCm39) |
I93T |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,752 (GRCm39) |
F92L |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,016 (GRCm39) |
H953R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,620,714 (GRCm39) |
E3588G |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,840,075 (GRCm39) |
E286G |
probably benign |
Het |
| Mc2r |
G |
T |
18: 68,541,196 (GRCm39) |
F32L |
probably benign |
Het |
| Mink1 |
C |
T |
11: 70,494,623 (GRCm39) |
T268M |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,093,815 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
A |
7: 141,412,601 (GRCm39) |
S1849* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,957,874 (GRCm39) |
E897G |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,281,819 (GRCm39) |
Q418R |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,478,861 (GRCm39) |
Q626K |
probably benign |
Het |
| Or11h4 |
A |
G |
14: 50,974,059 (GRCm39) |
S187P |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,315 (GRCm39) |
V83A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,343,046 (GRCm39) |
T150A |
probably benign |
Het |
| Or2w25 |
T |
A |
11: 59,503,964 (GRCm39) |
M58K |
probably damaging |
Het |
| Or5w14 |
G |
A |
2: 87,541,549 (GRCm39) |
R234C |
probably damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,489 (GRCm39) |
T91I |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,399 (GRCm39) |
I81V |
probably benign |
Het |
| Pald1 |
C |
T |
10: 61,182,915 (GRCm39) |
A345T |
possibly damaging |
Het |
| Pde8b |
G |
A |
13: 95,162,723 (GRCm39) |
P800S |
probably damaging |
Het |
| Pgm2l1 |
G |
A |
7: 99,917,362 (GRCm39) |
C493Y |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,609,537 (GRCm39) |
S311G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,692 (GRCm39) |
N573D |
possibly damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,583 (GRCm39) |
D128G |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,780,131 (GRCm39) |
S104R |
probably damaging |
Het |
| Pofut2 |
T |
A |
10: 77,103,059 (GRCm39) |
F179I |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,916,028 (GRCm39) |
C112S |
probably damaging |
Het |
| Prss32 |
G |
A |
17: 24,078,297 (GRCm39) |
A328T |
probably benign |
Het |
| Ptgir |
G |
T |
7: 16,642,708 (GRCm39) |
R103L |
probably damaging |
Het |
| Ptpn5 |
G |
A |
7: 46,738,350 (GRCm39) |
S244F |
probably damaging |
Het |
| Rnpepl1 |
G |
A |
1: 92,844,545 (GRCm39) |
V346I |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,688 (GRCm39) |
V561D |
probably damaging |
Het |
| Slc22a19 |
A |
T |
19: 7,687,026 (GRCm39) |
Y160N |
probably benign |
Het |
| Sorbs3 |
A |
G |
14: 70,428,880 (GRCm39) |
|
probably null |
Het |
| Sostdc1 |
T |
G |
12: 36,367,295 (GRCm39) |
I157S |
probably damaging |
Het |
| Svil |
G |
T |
18: 5,099,534 (GRCm39) |
R1777L |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,099,615 (GRCm39) |
E1804V |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,188,141 (GRCm39) |
N862K |
possibly damaging |
Het |
| Thbs4 |
A |
G |
13: 92,911,302 (GRCm39) |
S294P |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,426,111 (GRCm39) |
Y750C |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,418,168 (GRCm39) |
L312P |
probably damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,780,475 (GRCm39) |
M734K |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,070,859 (GRCm39) |
R531W |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,461,029 (GRCm39) |
R483W |
probably damaging |
Het |
| Zc3hav1 |
T |
A |
6: 38,284,343 (GRCm39) |
Y924F |
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 |
|
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 |
|
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'- GAGCTCCACTTCTTGTAGGTCTG -3'
(R):5'- CCATTGGAGCTGCCTACTTTTG -3'
Sequencing Primer
(F):5'- CTTCTTGTAGGTCTGAAGAGAACCAC -3'
(R):5'- CTACTTTTGGCACAGATACGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation