Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Pabpn1'

592782

Institutional Source

Beutler Lab

Gene Symbol

Pabpn1

Ensembl Gene

ENSMUSG00000022194

Gene Name

poly(A) binding protein, nuclear 1

Synonyms

poly(A) binding protein II, Pabp3

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55131600-55136384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55135499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 299 (Y299H)

Ref Sequence

ENSEMBL: ENSMUSP00000022808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022808] [ENSMUST00000116476] [ENSMUST00000134077] [ENSMUST00000139985] [ENSMUST00000140691] [ENSMUST00000141446] [ENSMUST00000150975] [ENSMUST00000172557] [ENSMUST00000172695]

AlphaFold

Q8CCS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022808
AA Change: Y299H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: Y299H

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	100	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC
RRM	169	241	4.19e-17	SMART
low complexity region	283	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116476

SMART Domains

Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	100	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC
RRM	169	241	4.19e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134077
AA Change: Y330H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: Y330H

Domain	Start	End	E-Value	Type
BH4	6	32	1.28e-11	SMART
BCL	46	144	1.22e-45	SMART
low complexity region	155	169	N/A	INTRINSIC
RRM	200	272	4.19e-17	SMART
low complexity region	314	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139985

SMART Domains

Protein: ENSMUSP00000122432
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
RRM	45	117	4.19e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140691

SMART Domains

Protein: ENSMUSP00000115294
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
coiled coil region	9	51	N/A	INTRINSIC
RRM	73	145	4.19e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141446

SMART Domains

Protein: ENSMUSP00000123305
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
RRM	45	117	4.19e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150975

SMART Domains

Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	100	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC
RRM	169	241	3.23e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172557
AA Change: Y175H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194
AA Change: Y175H

Domain	Start	End	E-Value	Type
RRM	45	117	4.19e-17	SMART
low complexity region	159	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172695

SMART Domains

Protein: ENSMUSP00000133579
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	30	53	N/A	INTRINSIC
low complexity region	59	73	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous KO and poly-alanine KI is embryonic lethal. Heterozygosity affects mitochondria and causes age- and muscle-specific muscle hypo- and hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	Het

Other mutations in Pabpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2038:Pabpn1	UTSW	14	55,134,609 (GRCm39)	missense	probably damaging	0.99
R2081:Pabpn1	UTSW	14	55,133,115 (GRCm39)	missense	probably damaging	1.00
R5236:Pabpn1	UTSW	14	55,132,399 (GRCm39)	missense	possibly damaging	0.73
R5974:Pabpn1	UTSW	14	55,134,617 (GRCm39)	missense	probably damaging	1.00
R8831:Pabpn1	UTSW	14	55,131,914 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGATGGATATTTCCTTGCCCTG -3'
(R):5'- GGTCCCTCCTCAGTTAGTTATAGG -3'

Sequencing Primer
(F):5'- GCCCTGTTTCCCATGTCAAGG -3'
(R):5'- CAGTTAGTTATAGGATTCTCCCCC -3'

Posted On

2019-11-12