Mutagenetix > Incidental Mutation

Incidental Mutation 'R2081:Pabpn1'

229518

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

040086-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2081 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55131600-55136384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55133115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 38 (K38E)

Ref Sequence

ENSEMBL: ENSMUSP00000133405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022808] [ENSMUST00000116476] [ENSMUST00000134077] [ENSMUST00000139985] [ENSMUST00000140691] [ENSMUST00000141446] [ENSMUST00000146271] [ENSMUST00000172557] [ENSMUST00000150975] [ENSMUST00000172695]

AlphaFold

Q8CCS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022808
AA Change: K162E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: K162E

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 damaging
Transcript: ENSMUST00000116476
AA Change: K162E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194
AA Change: K162E

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: K193E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: K193E

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 damaging
Transcript: ENSMUST00000139985
AA Change: K38E

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

SMART Domains

Protein: ENSMUSP00000122432
Gene: ENSMUSG00000022194
AA Change: K38E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140691
AA Change: K66E

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

SMART Domains

Protein: ENSMUSP00000115294
Gene: ENSMUSG00000022194
AA Change: K66E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141446
AA Change: K38E

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

SMART Domains

Protein: ENSMUSP00000123305
Gene: ENSMUSG00000022194
AA Change: K38E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146271

Predicted Effect

probably damaging
Transcript: ENSMUST00000172557
AA Change: K38E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194
AA Change: K38E

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: ENSMUST00000150975
AA Change: K162E

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194
AA Change: K162E

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 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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,211,085 (GRCm39)	T28A	possibly damaging	Het
Actl11	G	A	9: 107,807,396 (GRCm39)	G573D	probably benign	Het
Adam39	T	A	8: 41,279,879 (GRCm39)	*757K	probably null	Het
Agpat4	T	C	17: 12,370,771 (GRCm39)	I38T	possibly damaging	Het
Ap3d1	A	C	10: 80,568,770 (GRCm39)	I36S	probably damaging	Het
Arhgap45	T	C	10: 79,863,508 (GRCm39)	F784L	probably damaging	Het
Atg5lrt	T	C	10: 95,972,601 (GRCm39)	I46T	possibly damaging	Het
Atp10b	T	A	11: 43,092,955 (GRCm39)	I430N	probably damaging	Het
Atrip	T	A	9: 108,901,807 (GRCm39)		probably null	Het
C2cd4b	G	T	9: 67,667,859 (GRCm39)	R285L	probably damaging	Het
Camta1	T	C	4: 151,228,699 (GRCm39)	E711G	probably benign	Het
Clcn6	T	C	4: 148,095,525 (GRCm39)	Y685C	probably damaging	Het
Col18a1	T	A	10: 76,890,019 (GRCm39)	D1447V	probably damaging	Het
Crispld1	T	A	1: 17,832,403 (GRCm39)	V463D	probably damaging	Het
Crybg2	T	G	4: 133,816,131 (GRCm39)	F1612V	possibly damaging	Het
Dclk1	T	C	3: 55,429,346 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,821,829 (GRCm39)	V834L	probably benign	Het
Dnah10	A	G	5: 124,852,045 (GRCm39)	D1734G	possibly damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Ect2l	T	C	10: 18,041,275 (GRCm39)	E301G	probably damaging	Het
Elf3	C	T	1: 135,184,814 (GRCm39)	C124Y	probably benign	Het
Eno2	A	G	6: 124,740,088 (GRCm39)	V316A	probably damaging	Het
Erap1	A	G	13: 74,823,426 (GRCm39)	E820G	possibly damaging	Het
Evpl	A	T	11: 116,125,092 (GRCm39)	H123Q	probably damaging	Het
Fat2	T	A	11: 55,200,503 (GRCm39)	Y857F	possibly damaging	Het
Fbrsl1	T	A	5: 110,519,491 (GRCm39)		probably null	Het
Fbxw7	A	G	3: 84,881,820 (GRCm39)	D432G	probably damaging	Het
Flt1	A	T	5: 147,576,232 (GRCm39)	L592Q	probably damaging	Het
Gm14496	T	A	2: 181,642,272 (GRCm39)	C648S	probably damaging	Het
Gm5150	A	T	3: 16,045,109 (GRCm39)	S39T	probably benign	Het
Gse1	C	A	8: 121,293,219 (GRCm39)	P177Q	probably damaging	Het
Heatr4	G	A	12: 84,027,096 (GRCm39)	R54W	probably damaging	Het
Hpgd	C	A	8: 56,760,677 (GRCm39)	Q125K	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Mast2	A	T	4: 116,187,671 (GRCm39)		probably null	Het
Mfsd11	A	G	11: 116,752,381 (GRCm39)	T177A	possibly damaging	Het
Mlx	T	C	11: 100,978,257 (GRCm39)	S36P	probably benign	Het
Mlxipl	T	A	5: 135,142,492 (GRCm39)	V102D	probably damaging	Het
Mms22l	T	C	4: 24,536,150 (GRCm39)	Y540H	probably damaging	Het
Msc	T	C	1: 14,825,941 (GRCm39)	D11G	probably benign	Het
Muc4	C	G	16: 32,574,020 (GRCm39)	S699R	probably benign	Het
Nckap1l	T	C	15: 103,405,881 (GRCm39)	S1106P	probably damaging	Het
Obscn	T	C	11: 58,925,008 (GRCm39)	E5703G	possibly damaging	Het
Or2ag1	A	G	7: 106,313,405 (GRCm39)	M161T	probably benign	Het
Padi3	A	T	4: 140,526,290 (GRCm39)	L141Q	probably damaging	Het
Pakap	G	A	4: 57,855,927 (GRCm39)	E419K	possibly damaging	Het
Pde3b	A	G	7: 114,122,657 (GRCm39)	N742D	probably benign	Het
Pex1	T	A	5: 3,674,132 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,608,077 (GRCm39)	V192A	probably benign	Het
Ppp6r2	T	A	15: 89,166,332 (GRCm39)	M750K	probably benign	Het
Prdm15	A	T	16: 97,604,980 (GRCm39)	Y783*	probably null	Het
Prox2	T	A	12: 85,141,782 (GRCm39)	Q140H	probably damaging	Het
Psg27	A	T	7: 18,290,883 (GRCm39)	I440K	probably damaging	Het
Pzp	A	G	6: 128,496,383 (GRCm39)	M283T	probably benign	Het
Sec23a	G	A	12: 59,045,067 (GRCm39)	Q192*	probably null	Het
Sh2b1	A	G	7: 126,071,862 (GRCm39)	S108P	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tkfc	G	A	19: 10,574,742 (GRCm39)	A166V	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Trim47	A	G	11: 115,997,239 (GRCm39)	F505S	probably damaging	Het
Tti2	T	C	8: 31,641,337 (GRCm39)	F154L	possibly damaging	Het
Ubap2l	C	T	3: 89,946,271 (GRCm39)	G111D	possibly damaging	Het
Usp9y	A	T	Y: 1,381,277 (GRCm39)	I848N	possibly damaging	Het
Veph1	T	C	3: 65,968,523 (GRCm39)	Y740C	probably damaging	Het
Vmn2r114	T	A	17: 23,510,083 (GRCm39)	H799L	possibly damaging	Het
Wdr31	T	A	4: 62,374,180 (GRCm39)	M270L	probably benign	Het
Zfp26	A	G	9: 20,347,913 (GRCm39)	S884P	probably benign	Het
Zswim6	T	A	13: 107,909,930 (GRCm39)		noncoding transcript	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
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
R7681:Pabpn1	UTSW	14	55,135,499 (GRCm39)	missense	probably damaging	0.99
R8831:Pabpn1	UTSW	14	55,131,914 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCTAAAGCTGAATAGAGACTCGAC -3'
(R):5'- TGCACCATAGTCCACCTAAGG -3'

Sequencing Primer
(F):5'- CTGAATAGAGACTCGACTTGAAAAAC -3'
(R):5'- GTCCACCTAAGGAAAGGAACACTTG -3'

Posted On

2014-09-17