Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Pabpc4'

210035

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4

Ensembl Gene

ENSMUSG00000011257

Gene Name

poly(A) binding protein, cytoplasmic 4

Synonyms

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123262351-123298925 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123289068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 166 (R166L)

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: R166L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: R166L

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

possibly damaging
Transcript: ENSMUST00000080178
AA Change: R166L

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: R166L

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

noncoding transcript
Transcript: ENSMUST00000082721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083844

Predicted Effect

probably benign
Transcript: ENSMUST00000106241
AA Change: R166L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: R166L

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: R166L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: R166L

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

noncoding transcript
Transcript: ENSMUST00000156807

Predicted Effect

probably benign
Transcript: ENSMUST00000183940
AA Change: R166L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257
AA Change: R166L

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,226,575 (GRCm38)	D292E	probably damaging	Het
4931406P16Rik	T	A	7: 34,258,036 (GRCm38)	I59L	probably benign	Het
Abca8b	C	A	11: 109,957,098 (GRCm38)	L852F	possibly damaging	Het
Abcc6	T	C	7: 46,020,134 (GRCm38)		probably null	Het
Alg11	T	G	8: 22,065,568 (GRCm38)	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624 (GRCm38)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844 (GRCm38)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763 (GRCm38)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259 (GRCm38)	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148 (GRCm38)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090 (GRCm38)		probably null	Het
Btnl10	C	A	11: 58,920,541 (GRCm38)	P230Q	possibly damaging	Het
C3	A	G	17: 57,209,489 (GRCm38)	Y1348H	probably damaging	Het
Cebpz	A	T	17: 78,934,907 (GRCm38)	Y439*	probably null	Het
Cic	C	A	7: 25,286,840 (GRCm38)	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749 (GRCm38)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699 (GRCm38)	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494 (GRCm38)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369 (GRCm38)	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558 (GRCm38)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562 (GRCm38)	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629 (GRCm38)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455 (GRCm38)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817 (GRCm38)	G461V	possibly damaging	Het
Epg5	T	A	18: 77,959,032 (GRCm38)	D555E	probably benign	Het
Fes	T	C	7: 80,386,861 (GRCm38)	R113G	probably damaging	Het
Gm10684	A	G	9: 45,110,213 (GRCm38)		probably benign	Het
Gm12185	T	C	11: 48,915,404 (GRCm38)	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476 (GRCm38)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837 (GRCm38)	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556 (GRCm38)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684 (GRCm38)	Y216*	probably null	Het
Hephl1	A	C	9: 15,074,124 (GRCm38)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,411,910 (GRCm38)		probably null	Het
Hs3st6	A	G	17: 24,758,136 (GRCm38)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511 (GRCm38)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144 (GRCm38)	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408 (GRCm38)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841 (GRCm38)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834 (GRCm38)	I58F	probably benign	Het
Mga	T	A	2: 119,926,594 (GRCm38)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222 (GRCm38)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,081,023 (GRCm38)	D320Y	probably damaging	Het
Olfr1220	G	A	2: 89,097,544 (GRCm38)	P128S	probably damaging	Het
Olfr1395	A	C	11: 49,148,274 (GRCm38)	N6H	possibly damaging	Het
Olfr458	C	T	6: 42,460,426 (GRCm38)	V198M	probably benign	Het
Olfr60	T	C	7: 140,345,465 (GRCm38)	I175V	probably benign	Het
Olfr74	A	T	2: 87,974,059 (GRCm38)	V202D	possibly damaging	Het
Olfr740	T	A	14: 50,453,838 (GRCm38)	M262K	probably damaging	Het
Pcdhb8	A	G	18: 37,355,962 (GRCm38)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191 (GRCm38)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685 (GRCm38)	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148 (GRCm38)	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720 (GRCm38)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277 (GRCm38)	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990 (GRCm38)	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904 (GRCm38)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308 (GRCm38)	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497 (GRCm38)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447 (GRCm38)		probably null	Het
Slit2	A	G	5: 48,281,988 (GRCm38)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm38)	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199 (GRCm38)		probably benign	Het
Ssu2	A	T	6: 112,384,427 (GRCm38)	L23M	probably benign	Het
St5	G	A	7: 109,525,326 (GRCm38)	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279 (GRCm38)		probably null	Het
Tekt1	T	C	11: 72,351,935 (GRCm38)	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692 (GRCm38)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109 (GRCm38)	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107 (GRCm38)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207 (GRCm38)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,831,559 (GRCm38)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,885,545 (GRCm38)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041 (GRCm38)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052 (GRCm38)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442 (GRCm38)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570 (GRCm38)	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230 (GRCm38)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220 (GRCm38)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898 (GRCm38)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548 (GRCm38)	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155 (GRCm38)	P191L	probably damaging	Het

Other mutations in Pabpc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Pabpc4	APN	4	123,286,704 (GRCm38)	missense	probably damaging	1.00
IGL00970:Pabpc4	APN	4	123,286,815 (GRCm38)	missense	probably damaging	1.00
IGL03093:Pabpc4	APN	4	123,286,709 (GRCm38)	missense	probably damaging	0.96
R0383:Pabpc4	UTSW	4	123,297,942 (GRCm38)	missense	probably damaging	1.00
R0924:Pabpc4	UTSW	4	123,294,665 (GRCm38)	missense	possibly damaging	0.56
R1076:Pabpc4	UTSW	4	123,292,908 (GRCm38)	missense	possibly damaging	0.74
R1381:Pabpc4	UTSW	4	123,289,059 (GRCm38)	missense	probably damaging	1.00
R1957:Pabpc4	UTSW	4	123,286,865 (GRCm38)	missense	probably damaging	1.00
R2324:Pabpc4	UTSW	4	123,297,778 (GRCm38)	splice site	probably benign
R2567:Pabpc4	UTSW	4	123,297,951 (GRCm38)	missense	probably damaging	1.00
R3768:Pabpc4	UTSW	4	123,294,612 (GRCm38)	missense	probably damaging	1.00
R4350:Pabpc4	UTSW	4	123,290,267 (GRCm38)	missense	probably damaging	1.00
R4352:Pabpc4	UTSW	4	123,290,267 (GRCm38)	missense	probably damaging	1.00
R4353:Pabpc4	UTSW	4	123,290,267 (GRCm38)	missense	probably damaging	1.00
R5304:Pabpc4	UTSW	4	123,290,307 (GRCm38)	missense	probably benign	0.43
R5386:Pabpc4	UTSW	4	123,294,997 (GRCm38)	missense	probably benign	0.15
R5622:Pabpc4	UTSW	4	123,291,731 (GRCm38)	critical splice acceptor site	probably null
R6853:Pabpc4	UTSW	4	123,294,743 (GRCm38)	missense	possibly damaging	0.60
R7558:Pabpc4	UTSW	4	123,294,620 (GRCm38)	missense	possibly damaging	0.94
R7602:Pabpc4	UTSW	4	123,292,892 (GRCm38)	missense	possibly damaging	0.59
R7631:Pabpc4	UTSW	4	123,288,970 (GRCm38)	missense	probably damaging	0.96
R7714:Pabpc4	UTSW	4	123,295,309 (GRCm38)	missense	probably benign
R7935:Pabpc4	UTSW	4	123,298,044 (GRCm38)	missense	probably benign	0.13
R7951:Pabpc4	UTSW	4	123,283,739 (GRCm38)	missense	probably damaging	0.99
R8074:Pabpc4	UTSW	4	123,286,715 (GRCm38)	missense	probably benign
R8353:Pabpc4	UTSW	4	123,296,053 (GRCm38)	missense	probably benign	0.01
R9562:Pabpc4	UTSW	4	123,286,860 (GRCm38)	missense	probably damaging	1.00
R9565:Pabpc4	UTSW	4	123,286,860 (GRCm38)	missense	probably damaging	1.00
R9672:Pabpc4	UTSW	4	123,290,340 (GRCm38)	critical splice donor site	probably null
Z1176:Pabpc4	UTSW	4	123,295,274 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTAATGGTAGCAGCCTTGGAAG -3'
(R):5'- AAGTCAAAAGGGCTGCCGTG -3'

Sequencing Primer
(F):5'- CCTTGGAAGGCGGGGTAC -3'
(R):5'- GGCTCGGGCAGGGAGAC -3'

Posted On

2014-06-30