Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Parn'

42242

Institutional Source

Beutler Lab

Gene Symbol

Parn

Ensembl Gene

ENSMUSG00000022685

Gene Name

poly(A)-specific ribonuclease (deadenylation nuclease)

Synonyms

DAN, 1200003I18Rik

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0485 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

13355828-13486035 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 13472299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058884] [ENSMUST00000229042] [ENSMUST00000231003]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000058884

SMART Domains

Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229526

Predicted Effect

probably benign
Transcript: ENSMUST00000231003

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	Het

Other mutations in Parn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Parn	APN	16	13,485,467 (GRCm39)	missense	probably benign
IGL02030:Parn	APN	16	13,482,514 (GRCm39)	splice site	probably null
IGL02179:Parn	APN	16	13,485,456 (GRCm39)	missense	probably benign	0.00
IGL02336:Parn	APN	16	13,384,567 (GRCm39)	missense	probably damaging	1.00
arlette	UTSW	16	13,424,035 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Parn	UTSW	16	13,425,145 (GRCm39)	missense	probably benign	0.00
PIT4651001:Parn	UTSW	16	13,449,431 (GRCm39)	missense	probably benign	0.25
R0388:Parn	UTSW	16	13,472,340 (GRCm39)	missense	possibly damaging	0.72
R0625:Parn	UTSW	16	13,458,158 (GRCm39)	missense	probably benign	0.02
R1104:Parn	UTSW	16	13,485,449 (GRCm39)	missense	probably damaging	0.99
R1299:Parn	UTSW	16	13,482,593 (GRCm39)	missense	probably benign	0.10
R1356:Parn	UTSW	16	13,468,538 (GRCm39)	nonsense	probably null
R2067:Parn	UTSW	16	13,420,933 (GRCm39)	missense	probably damaging	1.00
R2111:Parn	UTSW	16	13,420,933 (GRCm39)	missense	probably damaging	1.00
R2397:Parn	UTSW	16	13,384,518 (GRCm39)	missense	probably benign
R4473:Parn	UTSW	16	13,482,549 (GRCm39)	missense	probably benign	0.00
R4474:Parn	UTSW	16	13,482,549 (GRCm39)	missense	probably benign	0.00
R4475:Parn	UTSW	16	13,482,549 (GRCm39)	missense	probably benign	0.00
R4476:Parn	UTSW	16	13,482,549 (GRCm39)	missense	probably benign	0.00
R4665:Parn	UTSW	16	13,358,967 (GRCm39)	missense	probably benign	0.19
R4795:Parn	UTSW	16	13,424,066 (GRCm39)	missense	probably benign	0.06
R5122:Parn	UTSW	16	13,472,311 (GRCm39)	critical splice donor site	probably null
R5226:Parn	UTSW	16	13,443,416 (GRCm39)	missense	probably benign
R5355:Parn	UTSW	16	13,485,886 (GRCm39)	missense	possibly damaging	0.92
R5570:Parn	UTSW	16	13,483,794 (GRCm39)	missense	probably damaging	0.98
R5979:Parn	UTSW	16	13,424,035 (GRCm39)	missense	probably damaging	1.00
R6009:Parn	UTSW	16	13,485,428 (GRCm39)	missense	probably damaging	1.00
R6173:Parn	UTSW	16	13,469,675 (GRCm39)	missense	possibly damaging	0.82
R6493:Parn	UTSW	16	13,474,789 (GRCm39)	missense	probably damaging	1.00
R7055:Parn	UTSW	16	13,443,998 (GRCm39)	missense	possibly damaging	0.80
R7278:Parn	UTSW	16	13,443,927 (GRCm39)	splice site	probably null
R7391:Parn	UTSW	16	13,485,870 (GRCm39)	splice site	probably null
R7706:Parn	UTSW	16	13,425,117 (GRCm39)	missense	probably damaging	1.00
R8188:Parn	UTSW	16	13,359,020 (GRCm39)	missense	probably benign	0.01
R8317:Parn	UTSW	16	13,358,964 (GRCm39)	missense	probably damaging	0.96
R8326:Parn	UTSW	16	13,483,835 (GRCm39)	missense	probably benign	0.00
R8419:Parn	UTSW	16	13,466,338 (GRCm39)	missense	probably benign	0.11
R8433:Parn	UTSW	16	13,485,413 (GRCm39)	missense	probably damaging	1.00
R8475:Parn	UTSW	16	13,425,113 (GRCm39)	critical splice donor site	probably null
R8847:Parn	UTSW	16	13,446,270 (GRCm39)	nonsense	probably null
R8958:Parn	UTSW	16	13,466,322 (GRCm39)	missense	possibly damaging	0.64
R8988:Parn	UTSW	16	13,466,281 (GRCm39)	critical splice donor site	probably null
R9277:Parn	UTSW	16	13,482,519 (GRCm39)	critical splice donor site	probably null
R9476:Parn	UTSW	16	13,358,942 (GRCm39)	missense	probably benign	0.10
R9510:Parn	UTSW	16	13,358,942 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGAAATCCTGCCACAATCAGACACTG -3'
(R):5'- GCTCTCATCCATATGACTGAATGCACT -3'

Sequencing Primer
(F):5'- ACTGGTGCTCGCATCAC -3'
(R):5'- cacttcccaccacccac -3'

Posted On

2013-05-23