Mutagenetix > Incidental Mutation

Incidental Mutation 'R8831:Pabpn1'

673859

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

068659-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8831 (G1)

Quality Score

158.009

Status

Not validated

Chromosome

Chromosomal Location

55131600-55136384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55131914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000133937 (fasta)

Gene Model

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

AlphaFold

Q8CCS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022808
AA Change: V101A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: V101A

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

possibly damaging
Transcript: ENSMUST00000116476
AA Change: V101A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194
AA Change: V101A

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 benign
Transcript: ENSMUST00000134077

SMART Domains

Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232

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 damaging
Transcript: ENSMUST00000150975
AA Change: V101A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194
AA Change: V101A

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: ENSMUST00000172557

SMART Domains

Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194

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

Predicted Effect

silent
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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Abcg5	G	T	17: 84,976,423 (GRCm39)	H471Q	probably damaging	Het
Actl6b	G	A	5: 137,565,305 (GRCm39)	R363Q	probably damaging	Het
Adcy1	T	A	11: 7,111,362 (GRCm39)	D884E	probably benign	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Amdhd2	A	G	17: 24,376,712 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,748,521 (GRCm39)	L14P	probably benign	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Cd300c2	A	T	11: 114,891,844 (GRCm39)	C39*	probably null	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cplane1	T	C	15: 8,211,620 (GRCm39)	I320T	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Defb25	C	A	2: 152,464,899 (GRCm39)	V17L	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dhx30	A	G	9: 109,917,319 (GRCm39)	S399P	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Ercc6	T	A	14: 32,282,784 (GRCm39)		probably null	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fgf10	A	G	13: 118,925,671 (GRCm39)	D150G	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gfra2	A	T	14: 71,204,503 (GRCm39)	N324I	probably benign	Het
Gm10308	A	G	17: 91,396,431 (GRCm39)	R118G	unknown	Het
Gm10801	T	A	2: 98,494,334 (GRCm39)	V137E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Il6st	G	T	13: 112,640,914 (GRCm39)	D897Y	probably damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Kidins220	A	T	12: 25,086,454 (GRCm39)	I963L	possibly damaging	Het
Mdm4	T	C	1: 132,931,601 (GRCm39)	R148G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Necab3	A	T	2: 154,396,607 (GRCm39)	L107Q	probably damaging	Het
Nkx2-4	G	A	2: 146,927,114 (GRCm39)	P51L	probably benign	Het
Nol11	T	C	11: 107,067,662 (GRCm39)	T388A	probably benign	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Nr1h3	C	A	2: 91,021,091 (GRCm39)	R232L	probably benign	Het
Nrcam	T	A	12: 44,591,680 (GRCm39)		probably null	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or52s1b	T	A	7: 102,822,203 (GRCm39)	I214L	probably benign	Het
Pcare	A	T	17: 72,059,305 (GRCm39)	V124E	probably benign	Het
Pcbp2	A	G	15: 102,394,453 (GRCm39)	D217G	probably benign	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Plcg1	G	C	2: 160,589,732 (GRCm39)	K85N	probably benign	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Prmt3	A	G	7: 49,478,729 (GRCm39)	E430G	probably null	Het
Prx	G	T	7: 27,217,538 (GRCm39)	V819F	probably damaging	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rgs2	T	C	1: 143,877,497 (GRCm39)	Y186C	probably damaging	Het
Rhbdl1	C	T	17: 26,053,857 (GRCm39)	V342M	probably damaging	Het
Rpn1	A	G	6: 88,061,775 (GRCm39)	Q88R	probably benign	Het
Slc19a2	C	T	1: 164,084,443 (GRCm39)	T111M	probably damaging	Het
Slc35e4	G	A	11: 3,863,087 (GRCm39)	P34L	possibly damaging	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Susd1	C	T	4: 59,379,594 (GRCm39)		probably benign	Het
Tcf19	A	T	17: 35,825,794 (GRCm39)	M121K	possibly damaging	Het
Tcp11	G	A	17: 28,299,193 (GRCm39)	R21C	probably damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem127	T	A	2: 127,098,979 (GRCm39)	V171D	probably damaging	Het
Tyrp1	G	A	4: 80,753,399 (GRCm39)	C30Y	probably damaging	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vamp4	T	A	1: 162,401,952 (GRCm39)	D11E	possibly damaging	Het
Vmn1r14	T	C	6: 57,210,505 (GRCm39)	F28L	probably benign	Het
Vmn2r69	G	T	7: 85,059,018 (GRCm39)	C514*	probably null	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zhx3	T	A	2: 160,622,691 (GRCm39)	Y492F	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
R7681:Pabpn1	UTSW	14	55,135,499 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTTCTCCAATCGCCGATC -3'
(R):5'- AGAGTCAATTTACCTTCTCTAGAGCC -3'

Sequencing Primer
(F):5'- CAGTCTGAGCGGCGATG -3'
(R):5'- TTCTCTAGAGCCACCCTAGAC -3'

Posted On

2021-07-15