Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Pabpc2'

481036

Institutional Source

Beutler Lab

Gene Symbol

Pabpc2

Ensembl Gene

ENSMUSG00000051732

Gene Name

poly(A) binding protein, cytoplasmic 2

Synonyms

Pabp2

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39773497-39776082 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39773894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 71 (T71S)

Ref Sequence

ENSEMBL: ENSMUSP00000066639 (fasta)

Gene Model

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

AlphaFold

Q62029

Predicted Effect

probably benign
Transcript: ENSMUST00000063219
AA Change: T71S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: T71S

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Pabpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Pabpc2	APN	18	39775337	missense	possibly damaging	0.78
IGL01295:Pabpc2	APN	18	39774029	missense	probably damaging	1.00
IGL02061:Pabpc2	APN	18	39774993	missense	probably benign	0.01
IGL02104:Pabpc2	APN	18	39774883	missense	possibly damaging	0.65
IGL02513:Pabpc2	APN	18	39775140	missense	probably benign	0.08
R0201:Pabpc2	UTSW	18	39775307	missense	probably benign	0.01
R0383:Pabpc2	UTSW	18	39775395	missense	probably damaging	0.99
R0616:Pabpc2	UTSW	18	39773739	missense	possibly damaging	0.94
R0727:Pabpc2	UTSW	18	39775134	missense	probably benign	0.00
R1597:Pabpc2	UTSW	18	39773900	missense	probably damaging	1.00
R1722:Pabpc2	UTSW	18	39775116	missense	probably benign	0.08
R1818:Pabpc2	UTSW	18	39774110	missense	probably damaging	1.00
R2230:Pabpc2	UTSW	18	39775070	missense	probably benign	0.00
R3087:Pabpc2	UTSW	18	39774266	missense	probably benign	0.02
R4080:Pabpc2	UTSW	18	39775530	missense	possibly damaging	0.86
R4332:Pabpc2	UTSW	18	39775340	missense	probably benign	0.05
R4386:Pabpc2	UTSW	18	39775185	missense	probably benign	0.00
R4445:Pabpc2	UTSW	18	39774200	missense	probably damaging	1.00
R4718:Pabpc2	UTSW	18	39774503	missense	probably benign
R4744:Pabpc2	UTSW	18	39774828	missense	probably benign	0.07
R4748:Pabpc2	UTSW	18	39774269	nonsense	probably null
R5085:Pabpc2	UTSW	18	39774582	missense	probably damaging	1.00
R5113:Pabpc2	UTSW	18	39775383	missense	probably benign	0.16
R6216:Pabpc2	UTSW	18	39774719	missense	probably damaging	1.00
R6239:Pabpc2	UTSW	18	39773838	missense	probably damaging	1.00
R6355:Pabpc2	UTSW	18	39774392	missense	probably damaging	0.97
R7221:Pabpc2	UTSW	18	39773910	missense	possibly damaging	0.52
R7738:Pabpc2	UTSW	18	39774266	missense	possibly damaging	0.78
R7767:Pabpc2	UTSW	18	39774554	missense	possibly damaging	0.66
R8059:Pabpc2	UTSW	18	39774822	missense	probably benign	0.33
R8190:Pabpc2	UTSW	18	39775467	missense	probably benign	0.01
R8528:Pabpc2	UTSW	18	39775386	missense	probably benign	0.00
R8905:Pabpc2	UTSW	18	39774651	missense	probably benign	0.30
R9617:Pabpc2	UTSW	18	39774549	missense	probably benign
X0024:Pabpc2	UTSW	18	39775397	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCCCAGATGAACTCCAG -3'
(R):5'- GCTAACCACCTTGCAGGAAAG -3'

Sequencing Primer
(F):5'- CATGGCCTCGCTCTATGTGG -3'
(R):5'- CTTGCAGGAAAGGATATTGCC -3'

Posted On

2017-06-26