Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02183:Pan2'

284294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pan2

Ensembl Gene

ENSMUSG00000005682

Gene Name

PAN2 poly(A) specific ribonuclease subunit

Synonyms

Usp52, 1200014O24Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

128303335-128321358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128309075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 230 (H230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005825] [ENSMUST00000218315] [ENSMUST00000219721]

AlphaFold

Q8BGF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005825
AA Change: H230Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: H230Q

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
SCOP:d1tbga_	151	357	4e-11	SMART
Blast:WD40	225	271	4e-11	BLAST
low complexity region	412	425	N/A	INTRINSIC
Pfam:UCH	515	920	2.6e-15	PFAM
Pfam:UCH_1	516	897	9.7e-70	PFAM
low complexity region	938	949	N/A	INTRINSIC
EXOIII	972	1155	1.68e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218137

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218315
AA Change: H230Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219255

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219721
AA Change: H212Q

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219801

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Pan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Pan2	APN	10	128312926	nonsense	probably null
IGL02219:Pan2	APN	10	128320352	missense	probably benign	0.04
IGL02514:Pan2	APN	10	128310741	missense	possibly damaging	0.94
IGL02552:Pan2	APN	10	128319027	missense	probably damaging	1.00
IGL02623:Pan2	APN	10	128312899	missense	probably benign
IGL02860:Pan2	APN	10	128310735	nonsense	probably null
IGL03104:Pan2	APN	10	128315663	splice site	probably benign
IGL03372:Pan2	APN	10	128315127	missense	probably benign	0.09
R0541:Pan2	UTSW	10	128308222	missense	possibly damaging	0.87
R0585:Pan2	UTSW	10	128310515	critical splice donor site	probably null
R1079:Pan2	UTSW	10	128318238	missense	probably damaging	0.99
R1650:Pan2	UTSW	10	128317899	missense	probably damaging	1.00
R1847:Pan2	UTSW	10	128304378	missense	possibly damaging	0.71
R1867:Pan2	UTSW	10	128313181	missense	probably damaging	1.00
R1903:Pan2	UTSW	10	128308368	missense	probably damaging	0.98
R1975:Pan2	UTSW	10	128320413	missense	probably damaging	0.99
R1976:Pan2	UTSW	10	128320413	missense	probably damaging	0.99
R1977:Pan2	UTSW	10	128320413	missense	probably damaging	0.99
R2136:Pan2	UTSW	10	128313637	missense	possibly damaging	0.95
R2162:Pan2	UTSW	10	128304222	missense	possibly damaging	0.90
R2512:Pan2	UTSW	10	128304457	missense	probably damaging	1.00
R2566:Pan2	UTSW	10	128313897	missense	probably damaging	1.00
R2900:Pan2	UTSW	10	128308342	missense	probably benign
R3957:Pan2	UTSW	10	128315177	missense	probably damaging	0.99
R4571:Pan2	UTSW	10	128308643	missense	probably benign	0.05
R5112:Pan2	UTSW	10	128315595	nonsense	probably null
R5120:Pan2	UTSW	10	128314995	critical splice donor site	probably null
R5183:Pan2	UTSW	10	128317969	missense	probably damaging	1.00
R5325:Pan2	UTSW	10	128317634	missense	possibly damaging	0.59
R5539:Pan2	UTSW	10	128308133	missense	probably benign	0.16
R5642:Pan2	UTSW	10	128308100	missense	probably benign	0.00
R5740:Pan2	UTSW	10	128308164	missense	probably damaging	1.00
R5822:Pan2	UTSW	10	128320380	missense	probably damaging	1.00
R6766:Pan2	UTSW	10	128314512	missense	possibly damaging	0.79
R6902:Pan2	UTSW	10	128315637	missense	probably benign	0.33
R6946:Pan2	UTSW	10	128315637	missense	probably benign	0.33
R7206:Pan2	UTSW	10	128314545	nonsense	probably null
R7490:Pan2	UTSW	10	128308440	missense	probably benign	0.00
R7715:Pan2	UTSW	10	128317723	missense	probably benign	0.00
R7794:Pan2	UTSW	10	128316527	splice site	probably null
R8286:Pan2	UTSW	10	128318320	missense	probably damaging	1.00
R9038:Pan2	UTSW	10	128317941	nonsense	probably null
R9057:Pan2	UTSW	10	128320272	missense	probably damaging	1.00
R9072:Pan2	UTSW	10	128315181	missense	probably damaging	0.98
R9073:Pan2	UTSW	10	128315181	missense	probably damaging	0.98
R9077:Pan2	UTSW	10	128312987	missense	probably damaging	1.00
RF005:Pan2	UTSW	10	128315535	missense	probably benign	0.00
RF024:Pan2	UTSW	10	128315535	missense	probably benign	0.00
Z1177:Pan2	UTSW	10	128304410	missense	possibly damaging	0.94
Z1177:Pan2	UTSW	10	128314499	missense	probably damaging	0.97

Posted On

2015-04-16