Mutagenetix > Incidental Mutation

Incidental Mutation 'R2136:Pan2'

235830

Institutional Source

Beutler Lab

Gene Symbol

Pan2

Ensembl Gene

ENSMUSG00000005682

Gene Name

PAN2 poly(A) specific ribonuclease subunit

Synonyms

Usp52, 1200014O24Rik

MMRRC Submission

040139-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128139204-128157227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128149506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 522 (V522G)

Ref Sequence

ENSEMBL: ENSMUSP00000151874 (fasta)

Gene Model

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

AlphaFold

Q8BGF7

Predicted Effect

probably benign
Transcript: ENSMUST00000005825
AA Change: V540G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: V540G

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

probably benign
Transcript: ENSMUST00000218315
AA Change: V540G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219255

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219721
AA Change: V522G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	G	16: 19,702,530 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Abcg3	G	A	5: 105,114,680 (GRCm39)	S279L	probably benign	Het
Acap3	T	C	4: 155,981,369 (GRCm39)	L85P	probably damaging	Het
Adgrl3	A	G	5: 81,660,101 (GRCm39)	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,780,674 (GRCm39)	T1909A	probably benign	Het
Asap1	T	C	15: 63,982,808 (GRCm39)	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,795,552 (GRCm39)	L702Q	possibly damaging	Het
Bsn	A	G	9: 107,990,430 (GRCm39)	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,903,248 (GRCm39)	E48G	probably benign	Het
Cdadc1	T	C	14: 59,805,493 (GRCm39)		probably null	Het
Cfap65	C	CA	1: 74,956,432 (GRCm39)		probably null	Het
Cln3	A	C	7: 126,181,971 (GRCm39)	S30R	probably benign	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Crb1	A	T	1: 139,265,163 (GRCm39)	V85E	probably benign	Het
Crocc	G	A	4: 140,760,265 (GRCm39)	R789W	probably damaging	Het
Cwh43	A	G	5: 73,572,397 (GRCm39)	I212V	probably benign	Het
Cyp2t4	C	A	7: 26,857,585 (GRCm39)	F391L	probably benign	Het
Dhx35	G	T	2: 158,673,781 (GRCm39)	R404L	probably damaging	Het
Disp1	A	G	1: 182,869,942 (GRCm39)	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Ep300	T	A	15: 81,524,648 (GRCm39)	Y1393N	unknown	Het
Fap	C	T	2: 62,354,551 (GRCm39)	G446D	possibly damaging	Het
Fat3	A	G	9: 16,288,347 (GRCm39)	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glipr1l1	T	C	10: 111,896,381 (GRCm39)	V56A	probably damaging	Het
Grsf1	A	G	5: 88,820,517 (GRCm39)	V7A	probably benign	Het
Hmcn1	G	A	1: 150,509,410 (GRCm39)	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,322,023 (GRCm39)	I569N	probably damaging	Het
Irs1	G	T	1: 82,267,763 (GRCm39)	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,128,094 (GRCm39)	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,181,207 (GRCm39)	L210P	probably damaging	Het
Lifr	C	A	15: 7,211,338 (GRCm39)	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,020,454 (GRCm39)	V201A	probably benign	Het
Mark1	A	G	1: 184,651,770 (GRCm39)	V135A	probably damaging	Het
Mical2	T	A	7: 111,870,722 (GRCm39)	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,275,000 (GRCm39)	Y434H	probably damaging	Het
Myh10	C	A	11: 68,695,540 (GRCm39)	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,382,174 (GRCm39)	T1400I	probably null	Het
Or1j11	A	G	2: 36,311,950 (GRCm39)	D180G	probably damaging	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or4b13	A	C	2: 90,082,597 (GRCm39)	V245G	probably damaging	Het
Or4f4b	T	C	2: 111,313,961 (GRCm39)	V62A	probably damaging	Het
Or4p7	T	A	2: 88,221,663 (GRCm39)	I24N	probably benign	Het
Or5d43	T	C	2: 88,104,584 (GRCm39)	K270E	probably damaging	Het
Or5e1	G	A	7: 108,354,430 (GRCm39)	M122I	possibly damaging	Het
Osmr	T	A	15: 6,881,943 (GRCm39)	Q67L	probably damaging	Het
Pard3	T	G	8: 128,103,366 (GRCm39)		probably null	Het
Pcdhgc5	G	T	18: 37,953,166 (GRCm39)	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,303,967 (GRCm39)	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,680,487 (GRCm39)		probably null	Het
Prdm4	G	A	10: 85,729,215 (GRCm39)	R731*	probably null	Het
Prdx6b	T	A	2: 80,123,507 (GRCm39)	D105E	probably damaging	Het
Prss3b	A	G	6: 41,012,396 (GRCm39)	F6S	probably benign	Het
Rab42	A	G	4: 132,029,790 (GRCm39)	L144P	probably damaging	Het
Ralbp1	T	A	17: 66,171,661 (GRCm39)	K104M	probably damaging	Het
Resf1	T	A	6: 149,230,320 (GRCm39)	I1122K	probably benign	Het
Rrp12	A	G	19: 41,881,038 (GRCm39)	V131A	probably damaging	Het
Sbno1	C	T	5: 124,525,597 (GRCm39)		probably null	Het
Sbno2	A	T	10: 79,898,527 (GRCm39)	I645N	probably damaging	Het
Scfd2	T	C	5: 74,367,028 (GRCm39)	K624R	probably benign	Het
Sgk2	C	A	2: 162,841,099 (GRCm39)		probably null	Het
Sirt4	A	G	5: 115,617,760 (GRCm39)	S299P	probably benign	Het
Skic3	T	C	13: 76,321,473 (GRCm39)	S1322P	possibly damaging	Het
Slit2	C	T	5: 48,461,567 (GRCm39)	A1521V	probably benign	Het
Socs7	T	G	11: 97,263,933 (GRCm39)	V275G	possibly damaging	Het
Spink11	G	A	18: 44,323,554 (GRCm39)	P102S	probably benign	Het
Tacc3	A	G	5: 33,828,748 (GRCm39)	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,714,309 (GRCm39)	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,650,454 (GRCm39)	M875K	probably benign	Het
Ttc22	T	A	4: 106,479,869 (GRCm39)	L41Q	possibly damaging	Het
Vasn	T	A	16: 4,467,659 (GRCm39)	C535*	probably null	Het
Vcan	T	A	13: 89,837,856 (GRCm39)	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,576,297 (GRCm39)	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,592,781 (GRCm39)	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,344,532 (GRCm39)	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266 (GRCm39)	V931A	probably benign	Het

Other mutations in Pan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Pan2	APN	10	128,148,795 (GRCm39)	nonsense	probably null
IGL02183:Pan2	APN	10	128,144,944 (GRCm39)	missense	possibly damaging	0.74
IGL02219:Pan2	APN	10	128,156,221 (GRCm39)	missense	probably benign	0.04
IGL02514:Pan2	APN	10	128,146,610 (GRCm39)	missense	possibly damaging	0.94
IGL02552:Pan2	APN	10	128,154,896 (GRCm39)	missense	probably damaging	1.00
IGL02623:Pan2	APN	10	128,148,768 (GRCm39)	missense	probably benign
IGL02860:Pan2	APN	10	128,146,604 (GRCm39)	nonsense	probably null
IGL03104:Pan2	APN	10	128,151,532 (GRCm39)	splice site	probably benign
IGL03372:Pan2	APN	10	128,150,996 (GRCm39)	missense	probably benign	0.09
R0541:Pan2	UTSW	10	128,144,091 (GRCm39)	missense	possibly damaging	0.87
R0585:Pan2	UTSW	10	128,146,384 (GRCm39)	critical splice donor site	probably null
R1079:Pan2	UTSW	10	128,154,107 (GRCm39)	missense	probably damaging	0.99
R1650:Pan2	UTSW	10	128,153,768 (GRCm39)	missense	probably damaging	1.00
R1847:Pan2	UTSW	10	128,140,247 (GRCm39)	missense	possibly damaging	0.71
R1867:Pan2	UTSW	10	128,149,050 (GRCm39)	missense	probably damaging	1.00
R1903:Pan2	UTSW	10	128,144,237 (GRCm39)	missense	probably damaging	0.98
R1975:Pan2	UTSW	10	128,156,282 (GRCm39)	missense	probably damaging	0.99
R1976:Pan2	UTSW	10	128,156,282 (GRCm39)	missense	probably damaging	0.99
R1977:Pan2	UTSW	10	128,156,282 (GRCm39)	missense	probably damaging	0.99
R2162:Pan2	UTSW	10	128,140,091 (GRCm39)	missense	possibly damaging	0.90
R2512:Pan2	UTSW	10	128,140,326 (GRCm39)	missense	probably damaging	1.00
R2566:Pan2	UTSW	10	128,149,766 (GRCm39)	missense	probably damaging	1.00
R2900:Pan2	UTSW	10	128,144,211 (GRCm39)	missense	probably benign
R3957:Pan2	UTSW	10	128,151,046 (GRCm39)	missense	probably damaging	0.99
R4571:Pan2	UTSW	10	128,144,512 (GRCm39)	missense	probably benign	0.05
R5112:Pan2	UTSW	10	128,151,464 (GRCm39)	nonsense	probably null
R5120:Pan2	UTSW	10	128,150,864 (GRCm39)	critical splice donor site	probably null
R5183:Pan2	UTSW	10	128,153,838 (GRCm39)	missense	probably damaging	1.00
R5325:Pan2	UTSW	10	128,153,503 (GRCm39)	missense	possibly damaging	0.59
R5539:Pan2	UTSW	10	128,144,002 (GRCm39)	missense	probably benign	0.16
R5642:Pan2	UTSW	10	128,143,969 (GRCm39)	missense	probably benign	0.00
R5740:Pan2	UTSW	10	128,144,033 (GRCm39)	missense	probably damaging	1.00
R5822:Pan2	UTSW	10	128,156,249 (GRCm39)	missense	probably damaging	1.00
R6766:Pan2	UTSW	10	128,150,381 (GRCm39)	missense	possibly damaging	0.79
R6902:Pan2	UTSW	10	128,151,506 (GRCm39)	missense	probably benign	0.33
R6946:Pan2	UTSW	10	128,151,506 (GRCm39)	missense	probably benign	0.33
R7206:Pan2	UTSW	10	128,150,414 (GRCm39)	nonsense	probably null
R7490:Pan2	UTSW	10	128,144,309 (GRCm39)	missense	probably benign	0.00
R7715:Pan2	UTSW	10	128,153,592 (GRCm39)	missense	probably benign	0.00
R7794:Pan2	UTSW	10	128,152,396 (GRCm39)	splice site	probably null
R8286:Pan2	UTSW	10	128,154,189 (GRCm39)	missense	probably damaging	1.00
R9038:Pan2	UTSW	10	128,153,810 (GRCm39)	nonsense	probably null
R9057:Pan2	UTSW	10	128,156,141 (GRCm39)	missense	probably damaging	1.00
R9072:Pan2	UTSW	10	128,151,050 (GRCm39)	missense	probably damaging	0.98
R9073:Pan2	UTSW	10	128,151,050 (GRCm39)	missense	probably damaging	0.98
R9077:Pan2	UTSW	10	128,148,856 (GRCm39)	missense	probably damaging	1.00
R9583:Pan2	UTSW	10	128,140,135 (GRCm39)	missense	probably benign
R9787:Pan2	UTSW	10	128,144,223 (GRCm39)	missense	probably benign	0.05
RF005:Pan2	UTSW	10	128,151,404 (GRCm39)	missense	probably benign	0.00
RF024:Pan2	UTSW	10	128,151,404 (GRCm39)	missense	probably benign	0.00
Z1177:Pan2	UTSW	10	128,150,368 (GRCm39)	missense	probably damaging	0.97
Z1177:Pan2	UTSW	10	128,140,279 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTGGAGTCCCGCTTTGTATC -3'
(R):5'- TTGACAGAAATGTGCCCTTTTC -3'

Sequencing Primer
(F):5'- TGTATCCAGCGCTCACAGATCG -3'
(R):5'- AGAAATGTGCCCTTTTCAACCATC -3'

Posted On

2014-10-01