Mutagenetix > Incidental Mutation

Incidental Mutation 'R7935:Pabpc4'

648666

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4

Ensembl Gene

ENSMUSG00000011257

Gene Name

poly(A) binding protein, cytoplasmic 4

Synonyms

MMRRC Submission

045981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7935 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123172722-123192718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123191837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 649 (A649V)

Ref Sequence

ENSEMBL: ENSMUSP00000079070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078734] [ENSMUST00000080178] [ENSMUST00000106241] [ENSMUST00000106243] [ENSMUST00000183940]

AlphaFold

Q6PHQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000078734
AA Change: A604V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: A604V

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	171	2.91e-25	SMART
RRM	192	264	1.27e-25	SMART
RRM	295	366	2.54e-25	SMART
low complexity region	478	493	N/A	INTRINSIC
low complexity region	503	516	N/A	INTRINSIC
PolyA	534	597	4.49e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080178
AA Change: A649V

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: A649V

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	171	2.91e-25	SMART
RRM	192	264	1.27e-25	SMART
RRM	295	366	2.54e-25	SMART
low complexity region	523	538	N/A	INTRINSIC
low complexity region	548	561	N/A	INTRINSIC
PolyA	579	642	4.49e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106241
AA Change: A633V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: A633V

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	171	2.91e-25	SMART
RRM	192	264	1.27e-25	SMART
RRM	295	366	2.54e-25	SMART
low complexity region	507	522	N/A	INTRINSIC
low complexity region	532	545	N/A	INTRINSIC
PolyA	563	626	4.49e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106243
AA Change: A620V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: A620V

Domain	Start	End	E-Value	Type
RRM	12	85	6.2e-24	SMART
RRM	100	171	1.2e-27	SMART
RRM	192	264	5.4e-28	SMART
RRM	295	366	1e-27	SMART
low complexity region	494	509	N/A	INTRINSIC
low complexity region	519	532	N/A	INTRINSIC
PolyA	550	613	2.1e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183940

SMART Domains

Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257

Domain	Start	End	E-Value	Type
RRM	12	85	1.47e-21	SMART
RRM	100	167	7.64e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,308,732 (GRCm39)	V124A	probably benign	Het
Abca4	A	G	3: 121,904,186 (GRCm39)	M746V	possibly damaging	Het
Aldh18a1	G	T	19: 40,562,226 (GRCm39)	S266*	probably null	Het
Aldh1b1	C	A	4: 45,802,968 (GRCm39)	H169N	probably benign	Het
Anpep	A	G	7: 79,476,709 (GRCm39)	I756T	possibly damaging	Het
Asb16	A	T	11: 102,168,739 (GRCm39)	E405V	probably benign	Het
B4galnt1	T	A	10: 127,007,490 (GRCm39)	F464I	probably damaging	Het
Bpifb5	A	G	2: 154,070,975 (GRCm39)	I225V	probably benign	Het
Brox	T	C	1: 183,062,484 (GRCm39)	E290G	probably damaging	Het
Cacna1s	T	A	1: 136,020,333 (GRCm39)	V790D	possibly damaging	Het
Cacng6	G	T	7: 3,473,384 (GRCm39)	K69N	possibly damaging	Het
Catsperg1	A	G	7: 28,895,344 (GRCm39)	I503T	possibly damaging	Het
Cdcp3	A	G	7: 130,852,205 (GRCm39)	N814D	probably damaging	Het
Celsr3	A	C	9: 108,706,840 (GRCm39)	M1108L	probably benign	Het
Chd2	T	C	7: 73,149,373 (GRCm39)	N449S	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Ctnna2	T	C	6: 76,919,270 (GRCm39)	E656G	probably damaging	Het
Dnah17	A	T	11: 118,018,048 (GRCm39)	M149K	probably benign	Het
Dpp8	A	T	9: 64,944,262 (GRCm39)	M10L	possibly damaging	Het
Dst	T	C	1: 34,329,486 (GRCm39)	L4838P	probably damaging	Het
Eif4g3	T	A	4: 137,824,082 (GRCm39)	I55N	probably damaging	Het
Gm10750	A	G	2: 148,858,017 (GRCm39)	L78P	unknown	Het
Gulo	T	G	14: 66,237,288 (GRCm39)	K200Q	probably benign	Het
Jmjd8	T	A	17: 26,048,071 (GRCm39)	L56Q	probably benign	Het
Kansl1	G	T	11: 104,315,112 (GRCm39)	Q309K	probably damaging	Het
Kcns3	A	C	12: 11,141,718 (GRCm39)	L327R	probably damaging	Het
Mapk10	A	G	5: 103,139,792 (GRCm39)	I153T	possibly damaging	Het
Muc5b	G	T	7: 141,400,569 (GRCm39)	M513I	unknown	Het
Nbea	A	G	3: 55,966,086 (GRCm39)	F459L	probably damaging	Het
Nrcam	G	A	12: 44,631,644 (GRCm39)	V1066I	possibly damaging	Het
Numa1	A	G	7: 101,651,538 (GRCm39)	K178E	probably damaging	Het
Or4b1	C	T	2: 89,979,928 (GRCm39)	V141M	probably benign	Het
Or5au1	T	C	14: 52,272,645 (GRCm39)	K308E	probably benign	Het
Or5d14	G	A	2: 87,880,290 (GRCm39)	T226M	probably damaging	Het
Parp12	C	A	6: 39,079,612 (GRCm39)	K299N	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,562 (GRCm39)	D523G	possibly damaging	Het
Polr2a	T	C	11: 69,638,330 (GRCm39)	T79A	probably benign	Het
Ppp1r7	T	C	1: 93,273,904 (GRCm39)	S27P	probably damaging	Het
Pramel42	G	T	5: 94,685,440 (GRCm39)	D367Y	probably damaging	Het
Prol1	T	G	5: 88,475,874 (GRCm39)	L88R	probably damaging	Het
Ptpn6	T	C	6: 124,709,425 (GRCm39)	Q57R	possibly damaging	Het
Rdh16	A	G	10: 127,637,334 (GRCm39)	I90V	probably benign	Het
Rock2	T	A	12: 16,998,558 (GRCm39)	C275S	probably damaging	Het
Rp1l1	G	T	14: 64,268,674 (GRCm39)	R1420L	probably damaging	Het
Sav1	A	G	12: 70,033,481 (GRCm39)	Y21H	probably damaging	Het
Sec24a	T	C	11: 51,612,749 (GRCm39)	N536S	probably benign	Het
Serpina9	A	C	12: 103,964,421 (GRCm39)	F339V	probably damaging	Het
Slc6a13	T	G	6: 121,311,450 (GRCm39)	L369V	possibly damaging	Het
Smarcd3	A	T	5: 24,801,024 (GRCm39)	F128I	probably damaging	Het
Smok2a	A	T	17: 13,444,599 (GRCm39)	I59F	probably damaging	Het
Spaca9	A	G	2: 28,583,634 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,124,928 (GRCm39)	E84D	probably benign	Het
Syt12	A	T	19: 4,497,830 (GRCm39)	V384E	probably benign	Het
Ticrr	T	A	7: 79,331,584 (GRCm39)	L727Q	probably damaging	Het
Tmem170b	A	G	13: 41,781,463 (GRCm39)	Y36C	probably damaging	Het
Tpd52l1	T	C	10: 31,214,201 (GRCm39)	T161A	probably damaging	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp512b	T	C	2: 181,231,689 (GRCm39)	T164A	probably damaging	Het
Zfp521	G	A	18: 13,977,549 (GRCm39)	P955S	probably damaging	Het
Zfp770	C	T	2: 114,027,305 (GRCm39)	V255I	probably benign	Het
Zfp942	A	T	17: 22,148,208 (GRCm39)	C140*	probably null	Het

Other mutations in Pabpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Pabpc4	APN	4	123,180,497 (GRCm39)	missense	probably damaging	1.00
IGL00970:Pabpc4	APN	4	123,180,608 (GRCm39)	missense	probably damaging	1.00
IGL03093:Pabpc4	APN	4	123,180,502 (GRCm39)	missense	probably damaging	0.96
R0383:Pabpc4	UTSW	4	123,191,735 (GRCm39)	missense	probably damaging	1.00
R0924:Pabpc4	UTSW	4	123,188,458 (GRCm39)	missense	possibly damaging	0.56
R1076:Pabpc4	UTSW	4	123,186,701 (GRCm39)	missense	possibly damaging	0.74
R1381:Pabpc4	UTSW	4	123,182,852 (GRCm39)	missense	probably damaging	1.00
R1908:Pabpc4	UTSW	4	123,182,861 (GRCm39)	missense	possibly damaging	0.68
R1957:Pabpc4	UTSW	4	123,180,658 (GRCm39)	missense	probably damaging	1.00
R2324:Pabpc4	UTSW	4	123,191,571 (GRCm39)	splice site	probably benign
R2567:Pabpc4	UTSW	4	123,191,744 (GRCm39)	missense	probably damaging	1.00
R3768:Pabpc4	UTSW	4	123,188,405 (GRCm39)	missense	probably damaging	1.00
R4350:Pabpc4	UTSW	4	123,184,060 (GRCm39)	missense	probably damaging	1.00
R4352:Pabpc4	UTSW	4	123,184,060 (GRCm39)	missense	probably damaging	1.00
R4353:Pabpc4	UTSW	4	123,184,060 (GRCm39)	missense	probably damaging	1.00
R5304:Pabpc4	UTSW	4	123,184,100 (GRCm39)	missense	probably benign	0.43
R5386:Pabpc4	UTSW	4	123,188,790 (GRCm39)	missense	probably benign	0.15
R5622:Pabpc4	UTSW	4	123,185,524 (GRCm39)	critical splice acceptor site	probably null
R6853:Pabpc4	UTSW	4	123,188,536 (GRCm39)	missense	possibly damaging	0.60
R7558:Pabpc4	UTSW	4	123,188,413 (GRCm39)	missense	possibly damaging	0.94
R7602:Pabpc4	UTSW	4	123,186,685 (GRCm39)	missense	possibly damaging	0.59
R7631:Pabpc4	UTSW	4	123,182,763 (GRCm39)	missense	probably damaging	0.96
R7714:Pabpc4	UTSW	4	123,189,102 (GRCm39)	missense	probably benign
R7951:Pabpc4	UTSW	4	123,177,532 (GRCm39)	missense	probably damaging	0.99
R8074:Pabpc4	UTSW	4	123,180,508 (GRCm39)	missense	probably benign
R8353:Pabpc4	UTSW	4	123,189,846 (GRCm39)	missense	probably benign	0.01
R9562:Pabpc4	UTSW	4	123,180,653 (GRCm39)	missense	probably damaging	1.00
R9565:Pabpc4	UTSW	4	123,180,653 (GRCm39)	missense	probably damaging	1.00
R9672:Pabpc4	UTSW	4	123,184,133 (GRCm39)	critical splice donor site	probably null
Z1176:Pabpc4	UTSW	4	123,189,067 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTCCCGCTTATCCAAACAATG -3'
(R):5'- ACACTGCACTCACAGCTAGG -3'

Sequencing Primer
(F):5'- ATGCATTCAAACCTGGCTGG -3'
(R):5'- CCAAGCTAGAAAGGTCCCTGG -3'

Posted On

2020-09-15