Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Parg'

500503

Institutional Source

Beutler Lab

Gene Symbol

Parg

Ensembl Gene

ENSMUSG00000021911

Gene Name

poly (ADP-ribose) glycohydrolase

Synonyms

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32201949-32297550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32254536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 178 (K178R)

Ref Sequence

ENSEMBL: ENSMUSP00000132454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022470] [ENSMUST00000163350] [ENSMUST00000170129] [ENSMUST00000170840]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022470
AA Change: K683R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: K683R

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 benign
Transcript: ENSMUST00000163350
AA Change: K683R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: K683R

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

noncoding transcript
Transcript: ENSMUST00000163957

Predicted Effect

probably benign
Transcript: ENSMUST00000170129

Predicted Effect

probably benign
Transcript: ENSMUST00000170840
AA Change: K178R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911
AA Change: K178R

Domain	Start	End	E-Value	Type
Pfam:PARG_cat	117	452	9.7e-135	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in Parg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Parg	APN	14	32296185	splice site	probably benign
IGL01879:Parg	APN	14	32271622	splice site	probably benign
IGL02391:Parg	APN	14	32262681	splice site	probably null
IGL02451:Parg	APN	14	32242229	missense	probably damaging	1.00
IGL02598:Parg	APN	14	32214324	missense	probably damaging	1.00
IGL02899:Parg	APN	14	32238574	missense	probably damaging	1.00
R0112:Parg	UTSW	14	32202433	missense	probably damaging	1.00
R0167:Parg	UTSW	14	32217736	critical splice donor site	probably null
R0514:Parg	UTSW	14	32254560	missense	possibly damaging	0.69
R0834:Parg	UTSW	14	32214554	splice site	probably benign
R1140:Parg	UTSW	14	32296243	missense	probably benign	0.01
R1480:Parg	UTSW	14	32209628	nonsense	probably null
R1611:Parg	UTSW	14	32238570	missense	probably damaging	1.00
R1912:Parg	UTSW	14	32210540	missense	probably damaging	0.99
R1916:Parg	UTSW	14	32208227	splice site	probably benign
R1983:Parg	UTSW	14	32217696	missense	probably damaging	1.00
R2007:Parg	UTSW	14	32210574	missense	possibly damaging	0.87
R2275:Parg	UTSW	14	32295238	missense	probably damaging	0.98
R2942:Parg	UTSW	14	32209337	missense	probably damaging	1.00
R4482:Parg	UTSW	14	32262774	missense	probably damaging	1.00
R4512:Parg	UTSW	14	32262736	missense	probably damaging	1.00
R4519:Parg	UTSW	14	32209635	missense	probably damaging	1.00
R4611:Parg	UTSW	14	32274864	missense	probably damaging	1.00
R4831:Parg	UTSW	14	32202451	missense	probably benign	0.00
R4876:Parg	UTSW	14	32271668	missense	probably damaging	0.98
R5298:Parg	UTSW	14	32202253	missense	probably damaging	1.00
R5606:Parg	UTSW	14	32262736	missense	probably damaging	1.00
R5782:Parg	UTSW	14	32274905	nonsense	probably null
R5878:Parg	UTSW	14	32217662	missense	possibly damaging	0.85
R6373:Parg	UTSW	14	32209497	splice site	probably null
R6436:Parg	UTSW	14	32271677	missense	probably damaging	1.00
R6530:Parg	UTSW	14	32209199	missense	probably damaging	1.00
R7285:Parg	UTSW	14	32210508	missense	probably damaging	0.98
R7348:Parg	UTSW	14	32250079	missense	possibly damaging	0.82
R7455:Parg	UTSW	14	32209475	missense	probably benign
R7780:Parg	UTSW	14	32208801	missense	possibly damaging	0.94
R7887:Parg	UTSW	14	32217662	missense	possibly damaging	0.85
R7968:Parg	UTSW	14	32214370	missense	possibly damaging	0.57
R8153:Parg	UTSW	14	32262820	missense	probably damaging	1.00
R8494:Parg	UTSW	14	32209021	missense	probably benign	0.04
R8717:Parg	UTSW	14	32210535	missense	probably benign	0.00
R8781:Parg	UTSW	14	32214443	missense	probably benign	0.33
R8826:Parg	UTSW	14	32209218	missense	possibly damaging	0.70
R9357:Parg	UTSW	14	32274917	missense	probably damaging	1.00
R9423:Parg	UTSW	14	32217705	missense	probably damaging	1.00
R9617:Parg	UTSW	14	32238612	missense	probably benign	0.01
R9662:Parg	UTSW	14	32250019	missense	probably damaging	1.00
R9666:Parg	UTSW	14	32242337	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTGATCCTCTGTATCAACAAAG -3'
(R):5'- CAGGGCAATTAGAGACTGAAACTC -3'

Sequencing Primer
(F):5'- TGTCTCAGGATGAACATCAGC -3'
(R):5'- AGAGACTGAAACTCATCTTCCTAAG -3'

Posted On

2017-12-01