Incidental Mutation 'R5298:Parg'
| ID |
405548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parg
|
| Ensembl Gene |
ENSMUSG00000021911 |
| Gene Name |
poly (ADP-ribose) glycohydrolase |
| Synonyms |
|
| MMRRC Submission |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
31923906-32019507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31924210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 3
(A3E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013845]
[ENSMUST00000022470]
[ENSMUST00000163350]
[ENSMUST00000163379]
[ENSMUST00000164137]
[ENSMUST00000170129]
[ENSMUST00000226683]
[ENSMUST00000171279]
[ENSMUST00000170840]
[ENSMUST00000170331]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013845
|
| SMART Domains |
Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
Pfam:Tim17
|
76 |
196 |
6.6e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022470
AA Change: A3E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: A3E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
Pfam:PARG_cat
|
574 |
902 |
2.5e-135 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163350
AA Change: A3E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: A3E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
Pfam:PARG_cat
|
570 |
905 |
5.1e-134 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163379
|
| SMART Domains |
Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164137
AA Change: A3E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168813
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170129
AA Change: A3E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171279
|
| SMART Domains |
Protein: ENSMUSP00000128629
Gene: ENSMUSG00000021911
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170840
|
| SMART Domains |
Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PARG_cat
|
117 |
452 |
9.7e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170331
|
| SMART Domains |
Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for one allele of this gene are hypersensitive to alkylating agents and ionizing radiation and susceptible to streptozotocin induced diabetes and endotoxic shock. Mice homozygous for a second allele display embryonic lethality and fail tohatch from the zona pellucida. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
probably damaging |
Het |
|
| Other mutations in Parg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Parg
|
APN |
14 |
32,018,142 (GRCm39) |
splice site |
probably benign |
|
|
IGL01879:Parg
|
APN |
14 |
31,993,579 (GRCm39) |
splice site |
probably benign |
|
|
IGL02391:Parg
|
APN |
14 |
31,984,638 (GRCm39) |
splice site |
probably null |
|
|
IGL02451:Parg
|
APN |
14 |
31,964,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Parg
|
APN |
14 |
31,936,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Parg
|
APN |
14 |
31,960,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Parg
|
UTSW |
14 |
31,924,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0167:Parg
|
UTSW |
14 |
31,939,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0514:Parg
|
UTSW |
14 |
31,976,517 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0834:Parg
|
UTSW |
14 |
31,936,511 (GRCm39) |
splice site |
probably benign |
|
|
R1140:Parg
|
UTSW |
14 |
32,018,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Parg
|
UTSW |
14 |
31,931,585 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Parg
|
UTSW |
14 |
31,960,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Parg
|
UTSW |
14 |
31,932,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1916:Parg
|
UTSW |
14 |
31,930,184 (GRCm39) |
splice site |
probably benign |
|
|
R1983:Parg
|
UTSW |
14 |
31,939,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Parg
|
UTSW |
14 |
31,932,531 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2275:Parg
|
UTSW |
14 |
32,017,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2942:Parg
|
UTSW |
14 |
31,931,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Parg
|
UTSW |
14 |
31,976,493 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4482:Parg
|
UTSW |
14 |
31,984,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Parg
|
UTSW |
14 |
31,984,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Parg
|
UTSW |
14 |
31,931,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Parg
|
UTSW |
14 |
31,996,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Parg
|
UTSW |
14 |
31,924,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4876:Parg
|
UTSW |
14 |
31,993,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5606:Parg
|
UTSW |
14 |
31,984,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Parg
|
UTSW |
14 |
31,996,862 (GRCm39) |
nonsense |
probably null |
|
|
R5878:Parg
|
UTSW |
14 |
31,939,619 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6373:Parg
|
UTSW |
14 |
31,931,454 (GRCm39) |
splice site |
probably null |
|
|
R6436:Parg
|
UTSW |
14 |
31,993,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6530:Parg
|
UTSW |
14 |
31,931,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Parg
|
UTSW |
14 |
31,932,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7348:Parg
|
UTSW |
14 |
31,972,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7455:Parg
|
UTSW |
14 |
31,931,432 (GRCm39) |
missense |
probably benign |
|
|
R7780:Parg
|
UTSW |
14 |
31,930,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7887:Parg
|
UTSW |
14 |
31,939,619 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7968:Parg
|
UTSW |
14 |
31,936,327 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8153:Parg
|
UTSW |
14 |
31,984,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Parg
|
UTSW |
14 |
31,930,978 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8717:Parg
|
UTSW |
14 |
31,932,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8781:Parg
|
UTSW |
14 |
31,936,400 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8826:Parg
|
UTSW |
14 |
31,931,175 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9357:Parg
|
UTSW |
14 |
31,996,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Parg
|
UTSW |
14 |
31,939,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Parg
|
UTSW |
14 |
31,960,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9662:Parg
|
UTSW |
14 |
31,971,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Parg
|
UTSW |
14 |
31,964,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTATCGCACTTCCGCTTTACG -3'
(R):5'- TGGTCCTCACACTGAAACAAGG -3'
Sequencing Primer
(F):5'- TCGAGCCGAGTGGAAGC -3'
(R):5'- GTTGCCTCTGTGCGGTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation