Mutagenetix > Incidental Mutation

Incidental Mutation 'R8317:Parn'

641777

Institutional Source

Beutler Lab

Gene Symbol

Parn

Ensembl Gene

ENSMUSG00000022685

Gene Name

poly(A)-specific ribonuclease (deadenylation nuclease)

Synonyms

DAN, 1200003I18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13537960-13668170 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 13541100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 593 (K593Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058884]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058884
AA Change: K593Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: K593Q

Domain	Start	End	E-Value	Type
Pfam:CAF1	3	383	2.7e-86	PFAM
Pfam:R3H	172	236	2.8e-13	PFAM
Pfam:RNA_bind	430	508	2.2e-37	PFAM
low complexity region	564	578	N/A	INTRINSIC
low complexity region	591	606	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	C	5: 98,737,600	H122P	probably benign	Het
1700029P11Rik	A	G	15: 81,980,777	Y73C	probably damaging	Het
Adgrv1	C	T	13: 81,575,117	V621M	probably damaging	Het
Adipor1	C	T	1: 134,428,167	R235W	probably benign	Het
Agbl1	T	A	7: 76,422,181	M594K	unknown	Het
Als2cr12	T	C	1: 58,676,548	K170E	possibly damaging	Het
Ang2	A	G	14: 51,195,892	V11A	probably benign	Het
BC027072	A	C	17: 71,749,202	L1160R	probably benign	Het
Ccl25	A	G	8: 4,354,138	N80S	probably benign	Het
Cd19	A	T	7: 126,413,443	C259*	probably null	Het
Cd209b	A	T	8: 3,922,018	I177N	probably damaging	Het
Cdc20	C	A	4: 118,437,126		probably benign	Het
Cdh23	A	T	10: 60,311,258		probably null	Het
Cdh23	G	A	10: 60,436,789	R536W	probably damaging	Het
Chd6	T	C	2: 160,990,321	D977G	probably damaging	Het
Csl	T	G	10: 99,759,038	H55P	probably damaging	Het
Cstf2t	G	A	19: 31,084,248	A395T	probably benign	Het
Dhx58	A	T	11: 100,703,562	I101N	probably damaging	Het
Dlg5	A	C	14: 24,191,230	S200A	probably damaging	Het
Epb41	C	A	4: 131,957,650	G86V		Het
Fat4	T	C	3: 38,958,510	V2318A	possibly damaging	Het
Fbxo32	A	T	15: 58,205,230	F119I	probably damaging	Het
Fndc1	A	T	17: 7,800,888	L153*	probably null	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,905		probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 142,273,816		probably benign	Het
Gpr63	A	T	4: 25,008,223	T316S	probably damaging	Het
Ick	T	A	9: 78,153,651	V193E	probably damaging	Het
Il16	T	C	7: 83,655,330	T665A	probably benign	Het
Lama5	T	C	2: 180,206,991	N272S	probably damaging	Het
Map3k1	T	C	13: 111,758,162	Y660C	probably damaging	Het
Mbd3l1	C	A	9: 18,484,821	L81I	probably benign	Het
Morc3	C	A	16: 93,862,529	Q442K	probably benign	Het
Muc16	G	A	9: 18,658,043	T1060I	unknown	Het
Myh11	T	A	16: 14,208,077	D1343V		Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Nbn	T	G	4: 15,970,893	L292W	probably damaging	Het
Nebl	A	G	2: 17,350,757	M195T	possibly damaging	Het
Net1	T	C	13: 3,907,856	K66E	possibly damaging	Het
Nod1	T	C	6: 54,943,440	Y631C	probably damaging	Het
Nxf1	A	G	19: 8,771,043	H12R	probably benign	Het
Onecut3	T	C	10: 80,495,327	L107P	unknown	Het
Opa1	T	G	16: 29,614,144	I512S	probably damaging	Het
P3h3	C	T	6: 124,855,153	G257R	probably damaging	Het
Pappa2	A	G	1: 158,764,960	C1616R	probably damaging	Het
Polr3g	T	C	13: 81,678,183	K173R	unknown	Het
Prcp	A	G	7: 92,875,390	T18A	probably benign	Het
Sash1	G	A	10: 8,729,386	T1080M	possibly damaging	Het
Skap2	A	G	6: 51,907,885		probably null	Het
Srebf1	C	A	11: 60,200,657	S1014I	possibly damaging	Het
Stk32b	C	T	5: 37,454,975	E356K	probably damaging	Het
Tex37	C	A	6: 70,913,292	W172L	possibly damaging	Het
Tjp3	T	A	10: 81,280,490	T257S	probably benign	Het
Trf	A	G	9: 103,217,516	Y448H	probably damaging	Het
Tsnaxip1	G	C	8: 105,827,806	R7P	probably benign	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het
Wdhd1	A	T	14: 47,263,537	H469Q	probably damaging	Het
Zbtb7a	G	C	10: 81,144,950	G326A	probably benign	Het
Zfp493	G	A	13: 67,783,839	R19H	probably benign	Het
Zfp932	A	T	5: 110,009,056	K207*	probably null	Het

Other mutations in Parn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Parn	APN	16	13667603	missense	probably benign
IGL02030:Parn	APN	16	13664650	splice site	probably null
IGL02179:Parn	APN	16	13667592	missense	probably benign	0.00
IGL02336:Parn	APN	16	13566703	missense	probably damaging	1.00
arlette	UTSW	16	13606171	missense	probably damaging	1.00
PIT4453001:Parn	UTSW	16	13607281	missense	probably benign	0.00
PIT4651001:Parn	UTSW	16	13631567	missense	probably benign	0.25
R0388:Parn	UTSW	16	13654476	missense	possibly damaging	0.72
R0485:Parn	UTSW	16	13654435	splice site	probably benign
R0625:Parn	UTSW	16	13640294	missense	probably benign	0.02
R1104:Parn	UTSW	16	13667585	missense	probably damaging	0.99
R1299:Parn	UTSW	16	13664729	missense	probably benign	0.10
R1356:Parn	UTSW	16	13650674	nonsense	probably null
R2067:Parn	UTSW	16	13603069	missense	probably damaging	1.00
R2111:Parn	UTSW	16	13603069	missense	probably damaging	1.00
R2397:Parn	UTSW	16	13566654	missense	probably benign
R4473:Parn	UTSW	16	13664685	missense	probably benign	0.00
R4474:Parn	UTSW	16	13664685	missense	probably benign	0.00
R4475:Parn	UTSW	16	13664685	missense	probably benign	0.00
R4476:Parn	UTSW	16	13664685	missense	probably benign	0.00
R4665:Parn	UTSW	16	13541103	missense	probably benign	0.19
R4795:Parn	UTSW	16	13606202	missense	probably benign	0.06
R5122:Parn	UTSW	16	13654447	critical splice donor site	probably null
R5226:Parn	UTSW	16	13625552	missense	probably benign
R5355:Parn	UTSW	16	13668022	missense	possibly damaging	0.92
R5570:Parn	UTSW	16	13665930	missense	probably damaging	0.98
R5979:Parn	UTSW	16	13606171	missense	probably damaging	1.00
R6009:Parn	UTSW	16	13667564	missense	probably damaging	1.00
R6173:Parn	UTSW	16	13651811	missense	possibly damaging	0.82
R6493:Parn	UTSW	16	13656925	missense	probably damaging	1.00
R7055:Parn	UTSW	16	13626134	missense	possibly damaging	0.80
R7278:Parn	UTSW	16	13626063	splice site	probably null
R7391:Parn	UTSW	16	13668006	splice site	probably null
R7706:Parn	UTSW	16	13607253	missense	probably damaging	1.00
R8188:Parn	UTSW	16	13541156	missense	probably benign	0.01
R8326:Parn	UTSW	16	13665971	missense	probably benign	0.00
R8419:Parn	UTSW	16	13648474	missense	probably benign	0.11
R8433:Parn	UTSW	16	13667549	missense	probably damaging	1.00
R8475:Parn	UTSW	16	13607249	critical splice donor site	probably null
R8847:Parn	UTSW	16	13628406	nonsense	probably null
R8958:Parn	UTSW	16	13648458	missense	possibly damaging	0.64
R8988:Parn	UTSW	16	13648417	critical splice donor site	probably null
R9277:Parn	UTSW	16	13664655	critical splice donor site	probably null
R9476:Parn	UTSW	16	13541078	missense	probably benign	0.10
R9510:Parn	UTSW	16	13541078	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ATTCCTCAATACATCAGGCCCATG -3'
(R):5'- ACACGTTGATAGGGTCTGTG -3'

Sequencing Primer
(F):5'- TACATCAGGCCCATGGGTAC -3'
(R):5'- ATGTCTGAGGCATGTCCCAG -3'

Posted On

2020-07-28