Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Pabpc2'

394045

Institutional Source

Beutler Lab

Gene Symbol

Pabpc2

Ensembl Gene

ENSMUSG00000051732

Gene Name

poly(A) binding protein, cytoplasmic 2

Synonyms

Pabp2

MMRRC Submission

042701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39906550-39909135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39908436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 567 (P567Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066639 (fasta)

Gene Model

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

AlphaFold

Q62029

Predicted Effect

probably benign
Transcript: ENSMUST00000063219
AA Change: P567Q

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: P567Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,206,821 (GRCm39)	V622A	possibly damaging	Het
Ankef1	A	G	2: 136,394,361 (GRCm39)	N590S	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano3	A	T	2: 110,491,825 (GRCm39)	N867K	possibly damaging	Het
Ash1l	T	C	3: 88,973,582 (GRCm39)	V2547A	probably damaging	Het
Chil5	A	T	3: 105,925,294 (GRCm39)	V209E	possibly damaging	Het
Cltc	A	T	11: 86,613,147 (GRCm39)	C459S	probably damaging	Het
Col6a4	T	A	9: 105,944,159 (GRCm39)	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,151,882 (GRCm39)	D199G	probably benign	Het
Cyp4f18	A	G	8: 72,742,902 (GRCm39)		probably null	Het
Cysrt1	A	T	2: 25,129,363 (GRCm39)	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,869,592 (GRCm39)	K278R	probably benign	Het
Eefsec	C	A	6: 88,258,557 (GRCm39)	S512I	probably damaging	Het
Emilin1	T	C	5: 31,077,964 (GRCm39)	F908L	possibly damaging	Het
Eml1	T	C	12: 108,503,596 (GRCm39)	V731A	possibly damaging	Het
Erc2	T	C	14: 27,374,829 (GRCm39)	S16P	probably benign	Het
Gfpt2	A	G	11: 49,714,626 (GRCm39)	R342G	probably damaging	Het
Gpr142	A	T	11: 114,695,143 (GRCm39)	Q36L	probably benign	Het
Grik5	A	G	7: 24,714,952 (GRCm39)	S681P	probably damaging	Het
Hecw1	A	T	13: 14,520,614 (GRCm39)	S208T	possibly damaging	Het
Hmgcr	G	A	13: 96,793,240 (GRCm39)	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,280,069 (GRCm39)	T97A	possibly damaging	Het
Ino80	G	T	2: 119,262,426 (GRCm39)	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,375,409 (GRCm39)	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481 (GRCm39)	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,723,734 (GRCm39)	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,576,442 (GRCm39)	V40E	unknown	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mipol1	C	T	12: 57,543,285 (GRCm39)	T393I	probably benign	Het
Mst1	A	G	9: 107,959,446 (GRCm39)	D244G	probably damaging	Het
Nexn	G	A	3: 151,949,525 (GRCm39)	R258C	probably damaging	Het
Optc	T	C	1: 133,828,715 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,861,221 (GRCm39)	N282S	probably damaging	Het
Or11h23	A	C	14: 50,948,371 (GRCm39)	I195L	probably benign	Het
Or6c207	A	G	10: 129,104,535 (GRCm39)	I219T	probably damaging	Het
Or7a37	A	G	10: 78,806,037 (GRCm39)	I185V	probably benign	Het
Pierce2	T	A	9: 72,887,175 (GRCm39)	R111*	probably null	Het
Ppm1j	A	G	3: 104,691,990 (GRCm39)	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,443,544 (GRCm39)		probably null	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Ski	T	C	4: 155,243,849 (GRCm39)	T554A	probably benign	Het
Slfn5	G	A	11: 82,852,522 (GRCm39)	V883M	probably benign	Het
Stradb	T	C	1: 59,030,333 (GRCm39)		probably benign	Het
Tex19.1	A	G	11: 121,038,625 (GRCm39)	T328A	probably benign	Het
Tpsab1	T	C	17: 25,564,373 (GRCm39)	N27S	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,643,244 (GRCm39)	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,242,843 (GRCm39)	T229A	probably benign	Het
Wapl	A	G	14: 34,446,711 (GRCm39)	K600E	probably damaging	Het
Zfp217	T	C	2: 169,955,978 (GRCm39)		probably null	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
R5085:Pabpc2	UTSW	18	39,907,635 (GRCm39)	missense	probably damaging	1.00
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'- CTACAGCGACTCCTGTTCAC -3'
(R):5'- GGTCAGTTTAAACAGTTGGGACAC -3'

Sequencing Primer
(F):5'- CTCGATTCCACAGTACAAGTATGCTG -3'
(R):5'- TGGGACACCAGAGGTACTGC -3'

Posted On

2016-06-15