Incidental Mutation 'R7772:Adprhl1'
| ID |
598646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adprhl1
|
| Ensembl Gene |
ENSMUSG00000031448 |
| Gene Name |
ADP-ribosylhydrolase like 1 |
| Synonyms |
D330008N11Rik, Arh2 |
| MMRRC Submission |
045828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7772 (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 |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
A |
11: 3,839,784 (GRCm39) |
|
probably null |
Het |
| Adora3 |
T |
C |
3: 105,815,039 (GRCm39) |
V263A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,227,235 (GRCm39) |
V1368A |
possibly damaging |
Het |
| Arid4a |
A |
T |
12: 71,108,363 (GRCm39) |
N56I |
possibly damaging |
Het |
| Art3 |
A |
T |
5: 92,551,472 (GRCm39) |
Y277F |
probably damaging |
Het |
| Atp2a1 |
A |
T |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
| Banf1 |
T |
C |
19: 5,415,150 (GRCm39) |
K54E |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,505,073 (GRCm39) |
Y151C |
probably damaging |
Het |
| C1qtnf3 |
C |
A |
15: 10,958,130 (GRCm39) |
P58T |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,390,445 (GRCm39) |
R744G |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,031,029 (GRCm39) |
D118G |
probably damaging |
Het |
| Cnot9 |
G |
A |
1: 74,566,151 (GRCm39) |
V181I |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,204,488 (GRCm39) |
G738D |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,904,220 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
G |
2: 145,772,564 (GRCm39) |
V171A |
probably benign |
Het |
| Dhx57 |
C |
T |
17: 80,580,507 (GRCm39) |
D482N |
possibly damaging |
Het |
| Dpysl2 |
A |
T |
14: 67,066,425 (GRCm39) |
|
probably null |
Het |
| Drd3 |
G |
T |
16: 43,582,758 (GRCm39) |
A52S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,220,469 (GRCm39) |
V2091A |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,261 (GRCm39) |
T1810A |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,248,783 (GRCm39) |
W92R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,320,103 (GRCm39) |
D51V |
possibly damaging |
Het |
| Gm11232 |
A |
T |
4: 71,674,818 (GRCm39) |
V228E |
possibly damaging |
Het |
| Gm14305 |
C |
T |
2: 176,412,764 (GRCm39) |
Q219* |
probably null |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr39 |
G |
T |
1: 125,605,334 (GRCm39) |
M87I |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,522 (GRCm39) |
M1089T |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,308,640 (GRCm39) |
M452K |
|
Het |
| Ints8 |
A |
T |
4: 11,227,190 (GRCm39) |
I561N |
probably damaging |
Het |
| Itgb2 |
A |
T |
10: 77,396,946 (GRCm39) |
K660N |
probably benign |
Het |
| Jun |
A |
C |
4: 94,939,081 (GRCm39) |
V143G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,851,952 (GRCm39) |
M2076T |
probably benign |
Het |
| Krt10 |
G |
T |
11: 99,279,913 (GRCm39) |
S82R |
unknown |
Het |
| Lipm |
T |
A |
19: 34,095,291 (GRCm39) |
H295Q |
probably damaging |
Het |
| Mybpc2 |
A |
C |
7: 44,165,348 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
C |
9: 72,584,608 (GRCm39) |
V103A |
possibly damaging |
Het |
| Nol10 |
T |
C |
12: 17,398,586 (GRCm39) |
I11T |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,067,233 (GRCm39) |
S758G |
probably damaging |
Het |
| Or13d1 |
T |
A |
4: 52,970,713 (GRCm39) |
C31S |
probably damaging |
Het |
| Or52r1c |
T |
G |
7: 102,735,388 (GRCm39) |
I216S |
probably benign |
Het |
| Or8d4 |
T |
C |
9: 40,038,661 (GRCm39) |
I199V |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,923,384 (GRCm39) |
H425R |
probably damaging |
Het |
| Parp1 |
G |
T |
1: 180,416,963 (GRCm39) |
R582S |
possibly damaging |
Het |
| Piwil1 |
A |
T |
5: 128,816,527 (GRCm39) |
R36S |
probably benign |
Het |
| Pjvk |
T |
C |
2: 76,487,877 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
T |
1: 133,097,760 (GRCm39) |
E31D |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Psmc6 |
T |
A |
14: 45,581,107 (GRCm39) |
I301N |
probably damaging |
Het |
| Rfpl4 |
C |
A |
7: 5,118,543 (GRCm39) |
S9I |
probably benign |
Het |
| Rnf14 |
G |
T |
18: 38,442,629 (GRCm39) |
C310F |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,715,144 (GRCm39) |
F845L |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,758,777 (GRCm39) |
I665V |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,559,619 (GRCm39) |
H740L |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,765,897 (GRCm39) |
S1280P |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,371,335 (GRCm39) |
R126H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,276 (GRCm39) |
F165L |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,340,221 (GRCm39) |
I453T |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,987,434 (GRCm39) |
Y1575H |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,704,567 (GRCm39) |
I415M |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,138,885 (GRCm39) |
I459S |
probably damaging |
Het |
| Stfa1 |
A |
G |
16: 36,097,363 (GRCm39) |
|
probably null |
Het |
| Tmem156 |
A |
T |
5: 65,237,517 (GRCm39) |
S48T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,545,918 (GRCm39) |
|
probably null |
Het |
| Unc93a |
A |
T |
17: 13,328,639 (GRCm39) |
F405I |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,664 (GRCm39) |
I9F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,533,482 (GRCm39) |
D462G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,080,465 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
T |
C |
7: 12,152,535 (GRCm39) |
D66G |
probably damaging |
Het |
| Znrf4 |
A |
C |
17: 56,819,247 (GRCm39) |
V20G |
possibly damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,770 (GRCm39) |
E200G |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,797,698 (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 |
|
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 |
|
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'- GAATACCACACCAAGTGTCGGG -3'
(R):5'- TGGATGTTCCCTAGACCCTC -3'
Sequencing Primer
(F):5'- TTCACACGCACAGGGTC -3'
(R):5'- ATGTTCCCTAGACCCTCGGGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation