Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Pabpc2'

387406

Institutional Source

Beutler Lab

Gene Symbol

Pabpc2

Ensembl Gene

ENSMUSG00000051732

Gene Name

poly(A) binding protein, cytoplasmic 2

Synonyms

Pabp2

MMRRC Submission

042674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39906550-39909135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39907635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 300 (N300I)

Ref Sequence

ENSEMBL: ENSMUSP00000066639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063219]

AlphaFold

Q62029

Predicted Effect

probably damaging
Transcript: ENSMUST00000063219
AA Change: N300I

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

SMART Domains

Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: N300I

Domain	Start	End	E-Value	Type
RRM	12	85	1.64e-19	SMART
RRM	100	171	7.57e-24	SMART
RRM	192	264	5.23e-27	SMART
RRM	295	366	3.53e-24	SMART
low complexity region	398	413	N/A	INTRINSIC
low complexity region	490	500	N/A	INTRINSIC
PolyA	546	609	1.69e-27	SMART

Meta Mutation Damage Score

0.7886

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,837 (GRCm39)	K129*	probably null	Het
Adamts6	A	T	13: 104,443,751 (GRCm39)	D162V	probably damaging	Het
Alms1	C	A	6: 85,597,714 (GRCm39)	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,722,664 (GRCm39)	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,464,096 (GRCm39)	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,313 (GRCm39)	N944K	probably damaging	Het
Clcn1	C	T	6: 42,290,814 (GRCm39)	T896I	probably benign	Het
Col16a1	A	T	4: 129,947,964 (GRCm39)	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,548,083 (GRCm39)	D561G	probably benign	Het
Ddr1	T	A	17: 35,993,667 (GRCm39)		probably null	Het
Dedd2	A	T	7: 24,918,411 (GRCm39)	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dph3b-ps	A	G	13: 106,683,558 (GRCm39)		noncoding transcript	Het
Dppa3	T	C	6: 122,606,891 (GRCm39)	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943 (GRCm39)		probably null	Het
Flrt3	T	C	2: 140,502,177 (GRCm39)	T484A	probably damaging	Het
Gldc	T	C	19: 30,128,936 (GRCm39)	E179G	probably damaging	Het
Gm14403	A	G	2: 177,200,282 (GRCm39)	E76G	probably benign	Het
Gm6421	G	A	13: 117,494,969 (GRCm39)		noncoding transcript	Het
Grk5	T	C	19: 61,065,122 (GRCm39)	V262A	probably damaging	Het
Grp	A	G	18: 66,013,230 (GRCm39)	Q132R	probably benign	Het
Hap1	A	G	11: 100,246,537 (GRCm39)	F123L	probably damaging	Het
Hrc	A	G	7: 44,986,445 (GRCm39)	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,228,733 (GRCm39)	F164L	probably benign	Het
Irag1	G	T	7: 110,470,700 (GRCm39)	L672I	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl1	C	T	11: 104,315,168 (GRCm39)	R290Q	probably damaging	Het
Kifc2	T	A	15: 76,545,496 (GRCm39)	L81Q	probably damaging	Het
Klrc3	T	C	6: 129,616,538 (GRCm39)	R160G	probably damaging	Het
Mal	A	G	2: 127,482,193 (GRCm39)	M70T	probably benign	Het
Mep1a	T	G	17: 43,789,035 (GRCm39)	R580S	probably damaging	Het
Methig1	A	T	15: 100,251,130 (GRCm39)	I14F	probably damaging	Het
Mtf1	T	C	4: 124,715,101 (GRCm39)	L242P	probably damaging	Het
Nfkb1	C	A	3: 135,309,568 (GRCm39)	A509S	probably benign	Het
Or2h2b-ps1	C	G	17: 37,480,858 (GRCm39)	S227T	probably benign	Het
Or2n1b	G	A	17: 38,460,003 (GRCm39)	D175N	probably damaging	Het
Or5ac24	A	T	16: 59,165,449 (GRCm39)	I205K	probably damaging	Het
Or7a36	G	T	10: 78,819,928 (GRCm39)	M101I	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Peg10	C	T	6: 4,755,864 (GRCm39)		probably benign	Het
Ppp1r3a	T	A	6: 14,719,603 (GRCm39)	D437V	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Prkab2	T	C	3: 97,580,308 (GRCm39)		probably benign	Het
Pus3	T	A	9: 35,476,932 (GRCm39)	L243Q	possibly damaging	Het
Relch	A	G	1: 105,605,905 (GRCm39)	S182G	probably damaging	Het
Rgs19	G	A	2: 181,331,336 (GRCm39)	T99M	possibly damaging	Het
Ripk2	A	G	4: 16,127,663 (GRCm39)	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210 (GRCm39)	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,469,947 (GRCm39)	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Skint6	T	A	4: 113,093,465 (GRCm39)	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,839,872 (GRCm39)	M137V	probably benign	Het
Supv3l1	A	T	10: 62,271,291 (GRCm39)	N415K	probably benign	Het
Tekt4	A	G	17: 25,692,749 (GRCm39)	R192G	probably damaging	Het
Trgv7	A	T	13: 19,362,598 (GRCm39)	K96*	probably null	Het
Tshz1	T	C	18: 84,032,053 (GRCm39)	N785S	probably benign	Het
Usb1	A	G	8: 96,070,679 (GRCm39)	T202A	probably damaging	Het
Utp18	A	T	11: 93,761,363 (GRCm39)	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,821,598 (GRCm39)	I324L	probably benign	Het
Wnt8a	A	T	18: 34,678,656 (GRCm39)	R157*	probably null	Het
Ypel1	A	G	16: 16,902,472 (GRCm39)		probably null	Het
Zfp235	A	G	7: 23,836,546 (GRCm39)	K31E	probably damaging	Het
Zhx2	G	C	15: 57,686,089 (GRCm39)	W486S	probably damaging	Het

Other mutations in Pabpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Pabpc2	APN	18	39,908,390 (GRCm39)	missense	possibly damaging	0.78
IGL01295:Pabpc2	APN	18	39,907,082 (GRCm39)	missense	probably damaging	1.00
IGL02061:Pabpc2	APN	18	39,908,046 (GRCm39)	missense	probably benign	0.01
IGL02104:Pabpc2	APN	18	39,907,936 (GRCm39)	missense	possibly damaging	0.65
IGL02513:Pabpc2	APN	18	39,908,193 (GRCm39)	missense	probably benign	0.08
R0201:Pabpc2	UTSW	18	39,908,360 (GRCm39)	missense	probably benign	0.01
R0383:Pabpc2	UTSW	18	39,908,448 (GRCm39)	missense	probably damaging	0.99
R0616:Pabpc2	UTSW	18	39,906,792 (GRCm39)	missense	possibly damaging	0.94
R0727:Pabpc2	UTSW	18	39,908,187 (GRCm39)	missense	probably benign	0.00
R1597:Pabpc2	UTSW	18	39,906,953 (GRCm39)	missense	probably damaging	1.00
R1722:Pabpc2	UTSW	18	39,908,169 (GRCm39)	missense	probably benign	0.08
R1818:Pabpc2	UTSW	18	39,907,163 (GRCm39)	missense	probably damaging	1.00
R2230:Pabpc2	UTSW	18	39,908,123 (GRCm39)	missense	probably benign	0.00
R3087:Pabpc2	UTSW	18	39,907,319 (GRCm39)	missense	probably benign	0.02
R4080:Pabpc2	UTSW	18	39,908,583 (GRCm39)	missense	possibly damaging	0.86
R4332:Pabpc2	UTSW	18	39,908,393 (GRCm39)	missense	probably benign	0.05
R4386:Pabpc2	UTSW	18	39,908,238 (GRCm39)	missense	probably benign	0.00
R4445:Pabpc2	UTSW	18	39,907,253 (GRCm39)	missense	probably damaging	1.00
R4718:Pabpc2	UTSW	18	39,907,556 (GRCm39)	missense	probably benign
R4744:Pabpc2	UTSW	18	39,907,881 (GRCm39)	missense	probably benign	0.07
R4748:Pabpc2	UTSW	18	39,907,322 (GRCm39)	nonsense	probably null
R5113:Pabpc2	UTSW	18	39,908,436 (GRCm39)	missense	probably benign	0.16
R5994:Pabpc2	UTSW	18	39,906,947 (GRCm39)	missense	probably benign	0.18
R6216:Pabpc2	UTSW	18	39,907,772 (GRCm39)	missense	probably damaging	1.00
R6239:Pabpc2	UTSW	18	39,906,891 (GRCm39)	missense	probably damaging	1.00
R6355:Pabpc2	UTSW	18	39,907,445 (GRCm39)	missense	probably damaging	0.97
R7221:Pabpc2	UTSW	18	39,906,963 (GRCm39)	missense	possibly damaging	0.52
R7738:Pabpc2	UTSW	18	39,907,319 (GRCm39)	missense	possibly damaging	0.78
R7767:Pabpc2	UTSW	18	39,907,607 (GRCm39)	missense	possibly damaging	0.66
R8059:Pabpc2	UTSW	18	39,907,875 (GRCm39)	missense	probably benign	0.33
R8190:Pabpc2	UTSW	18	39,908,520 (GRCm39)	missense	probably benign	0.01
R8528:Pabpc2	UTSW	18	39,908,439 (GRCm39)	missense	probably benign	0.00
R8905:Pabpc2	UTSW	18	39,907,704 (GRCm39)	missense	probably benign	0.30
R9617:Pabpc2	UTSW	18	39,907,602 (GRCm39)	missense	probably benign
X0024:Pabpc2	UTSW	18	39,908,450 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAAGGATTCGGGTTCGTCAG -3'
(R):5'- ACATAAAGTGGTTTCGTGGCC -3'

Sequencing Primer
(F):5'- CGTCAGCTTTGAAAGGCATG -3'
(R):5'- GGTTTCGTGGCCACAATTC -3'

Posted On

2016-06-06