Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Pabpc1'

482600

Institutional Source

Beutler Lab

Gene Symbol

Pabpc1

Ensembl Gene

ENSMUSG00000022283

Gene Name

poly(A) binding protein, cytoplasmic 1

Synonyms

Pabpl1, Pabp1

MMRRC Submission

044234-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.541) question?

Stock #

R6073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36595902-36609825 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36600895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 305 (I305T)

Ref Sequence

ENSEMBL: ENSMUSP00000001809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001809]

AlphaFold

P29341

Predicted Effect

probably damaging
Transcript: ENSMUST00000001809
AA Change: I305T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: I305T

Domain	Start	End	E-Value	Type
RRM	12	85	6.86e-22	SMART
RRM	100	171	2.72e-25	SMART
RRM	192	264	5.39e-29	SMART
RRM	295	366	5.83e-25	SMART
low complexity region	455	462	N/A	INTRINSIC
low complexity region	492	509	N/A	INTRINSIC
PolyA	554	617	6.9e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147116

Predicted Effect

probably benign
Transcript: ENSMUST00000155116

SMART Domains

Protein: ENSMUSP00000117063
Gene: ENSMUSG00000022283

Domain	Start	End	E-Value	Type
PolyA	36	99	6.9e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226867

Meta Mutation Damage Score

0.3706

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	A	T	18: 62,312,537 (GRCm39)	M96K	probably benign	Het
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Gm43302	A	G	5: 105,438,825 (GRCm39)	V21A	probably damaging	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Ihh	T	C	1: 74,990,438 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Nipsnap1	T	C	11: 4,838,895 (GRCm39)	F107S	possibly damaging	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Polr2g	A	T	19: 8,774,673 (GRCm39)	V70E	probably damaging	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	probably benign	Het

Other mutations in Pabpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01602:Pabpc1	APN	15	36,599,550 (GRCm39)	missense	probably benign	0.36
IGL01605:Pabpc1	APN	15	36,599,550 (GRCm39)	missense	probably benign	0.36
IGL01973:Pabpc1	APN	15	36,599,519 (GRCm39)	missense	probably benign	0.13
R0309:Pabpc1	UTSW	15	36,597,737 (GRCm39)	missense	possibly damaging	0.93
R0667:Pabpc1	UTSW	15	36,598,275 (GRCm39)	missense	probably benign
R0883:Pabpc1	UTSW	15	36,599,298 (GRCm39)	unclassified	probably benign
R1682:Pabpc1	UTSW	15	36,605,785 (GRCm39)	missense	possibly damaging	0.75
R1749:Pabpc1	UTSW	15	36,608,584 (GRCm39)	missense	probably damaging	1.00
R4731:Pabpc1	UTSW	15	36,599,528 (GRCm39)	missense	probably benign	0.21
R4732:Pabpc1	UTSW	15	36,599,528 (GRCm39)	missense	probably benign	0.21
R4733:Pabpc1	UTSW	15	36,599,528 (GRCm39)	missense	probably benign	0.21
R4825:Pabpc1	UTSW	15	36,597,255 (GRCm39)	missense	probably damaging	0.98
R5324:Pabpc1	UTSW	15	36,600,869 (GRCm39)	missense	probably damaging	1.00
R5328:Pabpc1	UTSW	15	36,603,121 (GRCm39)	missense	probably benign	0.03
R5711:Pabpc1	UTSW	15	36,606,074 (GRCm39)	missense	probably benign	0.03
R6751:Pabpc1	UTSW	15	36,597,778 (GRCm39)	missense	possibly damaging	0.71
R7632:Pabpc1	UTSW	15	36,598,212 (GRCm39)	frame shift	probably null
R8042:Pabpc1	UTSW	15	36,598,553 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTGACTACCCAGAATGAAC -3'
(R):5'- CAGGTTCATATTTACTCGAACAAGC -3'

Posted On

2017-07-14