Mutagenetix > Incidental Mutation

Incidental Mutation 'R2038:Pabpn1'

225350

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

040045-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2038 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55131600-55136384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55134609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 250 (I250S)

Ref Sequence

ENSEMBL: ENSMUSP00000112177 (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: I250S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: I250S

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: I250S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194
AA Change: I250S

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

possibly damaging
Transcript: ENSMUST00000134077
AA Change: I281S

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: I281S

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: I126S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122432
Gene: ENSMUSG00000022194
AA Change: I126S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140691
AA Change: I154S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115294
Gene: ENSMUSG00000022194
AA Change: I154S

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: I126S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123305
Gene: ENSMUSG00000022194
AA Change: I126S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146271

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172557
AA Change: I126S

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194
AA Change: I126S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150975
AA Change: I277S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194
AA Change: I277S

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: 97.1%
20x: 94.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,389,762 (GRCm39)	Y54C	probably damaging	Het
Adgrf4	A	T	17: 42,978,754 (GRCm39)	H196Q	probably damaging	Het
Astn1	T	G	1: 158,484,690 (GRCm39)	S918A	probably benign	Het
Cd79a	A	T	7: 24,598,782 (GRCm39)	K110N	probably benign	Het
Cdc34b	C	T	11: 94,633,114 (GRCm39)	Q105*	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Clpx	G	A	9: 65,224,775 (GRCm39)	G168R	probably damaging	Het
Col8a2	T	C	4: 126,205,108 (GRCm39)		probably benign	Het
Ddx27	G	A	2: 166,875,675 (GRCm39)	E669K	probably damaging	Het
Dnah8	A	T	17: 30,977,255 (GRCm39)	I2898F	probably damaging	Het
Dus2	T	C	8: 106,775,294 (GRCm39)	Y274H	probably damaging	Het
Dync2h1	A	G	9: 6,967,226 (GRCm39)	S4073P	probably damaging	Het
Dynlrb2	G	A	8: 117,241,549 (GRCm39)	R31Q	possibly damaging	Het
Esyt1	C	T	10: 128,347,820 (GRCm39)	V957I	probably benign	Het
Fhdc1	A	T	3: 84,351,868 (GRCm39)	L1119Q	probably benign	Het
H2-T10	T	C	17: 36,430,317 (GRCm39)	K212E	probably benign	Het
H60b	A	T	10: 22,162,114 (GRCm39)	N113I	probably benign	Het
Hace1	A	C	10: 45,576,721 (GRCm39)	K798Q	probably benign	Het
Hdac7	C	T	15: 97,696,151 (GRCm39)	R631H	probably damaging	Het
Kat7	T	A	11: 95,190,928 (GRCm39)	I153F	probably benign	Het
Lman1	T	C	18: 66,131,681 (GRCm39)	T101A	probably benign	Het
Mapk8	A	T	14: 33,110,893 (GRCm39)	C245*	probably null	Het
Mfhas1	T	A	8: 36,058,431 (GRCm39)	W969R	probably damaging	Het
Mlxipl	A	T	5: 135,135,853 (GRCm39)	D26V	probably damaging	Het
Msh5	A	G	17: 35,265,016 (GRCm39)	V53A	probably benign	Het
Msl2	C	A	9: 100,979,183 (GRCm39)	A519D	probably damaging	Het
Nbeal1	A	G	1: 60,245,503 (GRCm39)	S176G	probably benign	Het
Ninl	T	A	2: 150,817,763 (GRCm39)	K134*	probably null	Het
Or10d1	A	G	9: 39,484,283 (GRCm39)	S91P	probably damaging	Het
Or1e25	T	A	11: 73,494,239 (GRCm39)	Y278N	probably damaging	Het
Or4a68	C	A	2: 89,269,689 (GRCm39)	M311I	probably benign	Het
Ppp4r4	G	A	12: 103,542,539 (GRCm39)		probably null	Het
Rad51ap2	T	C	12: 11,507,025 (GRCm39)	S316P	possibly damaging	Het
Scn7a	C	A	2: 66,567,780 (GRCm39)	W271C	probably damaging	Het
Set	T	C	2: 29,960,212 (GRCm39)	S182P	probably benign	Het
Sez6l	T	C	5: 112,620,618 (GRCm39)	T321A	possibly damaging	Het
Sfpq	A	T	4: 126,915,295 (GRCm39)	H29L	unknown	Het
Slc33a1	A	G	3: 63,855,577 (GRCm39)	L356P	probably damaging	Het
Sptbn1	C	G	11: 30,109,293 (GRCm39)		probably null	Het
Srrd	C	T	5: 112,486,316 (GRCm39)	G179D	probably benign	Het
Taf4b	T	C	18: 14,940,456 (GRCm39)	S312P	probably damaging	Het
Tgfbrap1	A	T	1: 43,093,794 (GRCm39)	L566*	probably null	Het
Tln2	T	A	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Ttc27	T	C	17: 75,163,497 (GRCm39)	F702L	probably benign	Het
Vmn2r54	C	T	7: 12,363,637 (GRCm39)	G419R	possibly damaging	Het
Vps13b	A	G	15: 35,884,887 (GRCm39)	S3187G	probably damaging	Het
Vps13d	C	A	4: 144,907,685 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,411,097 (GRCm39)	F677L	probably damaging	Het
Zfp568	A	T	7: 29,688,507 (GRCm39)	E23V	probably null	Het

Other mutations in Pabpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CAGGTTTGCATATATAGAGTTCTCGG -3'
(R):5'- AGTAAGGGTCCTCAGGTGAG -3'

Sequencing Primer
(F):5'- TATAGAGTTCTCGGACAAAGAGTC -3'
(R):5'- CTCAGGTGAGGAGAGAACGAAGC -3'

Posted On

2014-08-25