Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Parn'

288836

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parn

Ensembl Gene

ENSMUSG00000022685

Gene Name

poly(A)-specific ribonuclease (deadenylation nuclease)

Synonyms

DAN, 1200003I18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

13355828-13486035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13384567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 499 (I499F)

Ref Sequence

ENSEMBL: ENSMUSP00000055969 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058884
AA Change: I499F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: I499F

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: ENSMUST00000231003

Coding Region Coverage

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Adrb2	T	C	18: 62,312,078 (GRCm39)	E249G	probably benign	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,200 (GRCm39)	S739N	probably benign	Het
Ighv1-42	T	A	12: 114,900,885 (GRCm39)	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tbr1	C	A	2: 61,635,336 (GRCm39)	H95Q	possibly damaging	Het
Tcf19	A	T	17: 35,825,380 (GRCm39)		probably null	Het
Timm44	T	A	8: 4,317,692 (GRCm39)	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly damaging	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
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
R0485:Parn	UTSW	16	13,472,299 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16