Incidental Mutation 'R5236:Pabpn1'
ID 398433
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 044393-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5236 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55131600-55136384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55132399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 145 (M145K)
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 possibly damaging
Transcript: ENSMUST00000022808
AA Change: M145K

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: M145K

DomainStartEndE-ValueType
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: M145K

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194
AA Change: M145K

DomainStartEndE-ValueType
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: M176K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: M176K

DomainStartEndE-ValueType
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
AA Change: M21K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122432
Gene: ENSMUSG00000022194
AA Change: M21K

DomainStartEndE-ValueType
RRM 45 117 4.19e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140691
AA Change: M49K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115294
Gene: ENSMUSG00000022194
AA Change: M49K

DomainStartEndE-ValueType
coiled coil region 9 51 N/A INTRINSIC
RRM 73 145 4.19e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141446
AA Change: M21K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123305
Gene: ENSMUSG00000022194
AA Change: M21K

DomainStartEndE-ValueType
RRM 45 117 4.19e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146271
Predicted Effect probably benign
Transcript: ENSMUST00000172557
AA Change: M21K

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194
AA Change: M21K

DomainStartEndE-ValueType
RRM 45 117 4.19e-17 SMART
low complexity region 159 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150975
AA Change: M145K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194
AA Change: M145K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,820,120 (GRCm39) I180N possibly damaging Het
Actl9 T C 17: 33,653,073 (GRCm39) S378P probably damaging Het
Agrn A T 4: 156,263,315 (GRCm39) C263S possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Arid4b A G 13: 14,301,034 (GRCm39) probably null Het
Bin2 T C 15: 100,560,415 (GRCm39) N49D probably damaging Het
Ccdc39 T C 3: 33,884,251 (GRCm39) T364A probably damaging Het
Cdcp1 A T 9: 123,014,258 (GRCm39) V172D probably damaging Het
Cdh23 A G 10: 60,148,351 (GRCm39) L2670P probably damaging Het
Cmtm4 G C 8: 105,084,378 (GRCm39) F105L probably damaging Het
Cspg4b A G 13: 113,502,754 (GRCm39) Y153C probably benign Het
Ctsa G A 2: 164,680,831 (GRCm39) V453M probably damaging Het
Cyp3a59 A G 5: 146,039,635 (GRCm39) I303V probably benign Het
Cyp4f17 T C 17: 32,739,606 (GRCm39) probably null Het
Dst C T 1: 34,203,498 (GRCm39) R447C probably damaging Het
E2f7 C T 10: 110,603,070 (GRCm39) P362S probably damaging Het
Fbxw9 A G 8: 85,792,974 (GRCm39) T407A probably damaging Het
Fyb2 T C 4: 104,805,957 (GRCm39) S346P probably benign Het
Git2 T A 5: 114,905,233 (GRCm39) I75L probably damaging Het
H2-DMa T A 17: 34,356,913 (GRCm39) L137Q probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrg T C 16: 22,780,263 (GRCm39) probably benign Het
Htr7 A T 19: 36,034,169 (GRCm39) I162N probably damaging Het
Itpripl1 A T 2: 126,983,770 (GRCm39) F117L probably damaging Het
Kri1 T C 9: 21,187,237 (GRCm39) Y392C probably damaging Het
Krt27 A C 11: 99,241,641 (GRCm39) S87A possibly damaging Het
Lama1 T C 17: 68,111,487 (GRCm39) V2246A probably benign Het
Lcn2 A T 2: 32,275,973 (GRCm39) M119K probably benign Het
Lrp2 T C 2: 69,287,163 (GRCm39) probably null Het
Lrp6 T C 6: 134,488,227 (GRCm39) N290D probably damaging Het
Macf1 T C 4: 123,291,614 (GRCm39) E2517G probably damaging Het
Melk G A 4: 44,344,959 (GRCm39) C363Y probably benign Het
Mettl22 T A 16: 8,306,597 (GRCm39) L351* probably null Het
Mms22l A G 4: 24,588,347 (GRCm39) Q953R probably benign Het
Ndufaf7 T C 17: 79,247,060 (GRCm39) S107P probably benign Het
Opa3 A G 7: 18,978,682 (GRCm39) Y49C probably damaging Het
Or2a12 A C 6: 42,904,715 (GRCm39) R183S probably benign Het
Or9a2 C A 6: 41,749,045 (GRCm39) G63C probably benign Het
Plce1 A C 19: 38,758,791 (GRCm39) M1982L probably benign Het
Ppcdc A C 9: 57,321,937 (GRCm39) I201S probably benign Het
Rag2 A T 2: 101,460,005 (GRCm39) D105V probably damaging Het
Rnf130 C T 11: 49,986,805 (GRCm39) T383I probably damaging Het
Sgip1 T G 4: 102,784,784 (GRCm39) probably null Het
Slc23a2 T A 2: 131,917,504 (GRCm39) I245F probably damaging Het
Slc4a9 A G 18: 36,663,900 (GRCm39) Y308C probably benign Het
Slc7a15 C T 12: 8,589,005 (GRCm39) V181M probably benign Het
Sprr2b G A 3: 92,224,943 (GRCm39) C63Y unknown Het
Stpg2 A T 3: 138,937,984 (GRCm39) Y181F probably damaging Het
Sult2a5 A T 7: 13,398,974 (GRCm39) T194S probably benign Het
Tbx15 A T 3: 99,259,362 (GRCm39) Q411L possibly damaging Het
Tln2 T A 9: 67,273,205 (GRCm39) E427V probably damaging Het
Trpv4 A C 5: 114,760,856 (GRCm39) V825G possibly damaging Het
Trrap A G 5: 144,754,596 (GRCm39) I1968V probably benign Het
Ttn G A 2: 76,619,146 (GRCm39) L16078F probably damaging Het
Unc45b T A 11: 82,805,888 (GRCm39) F132I possibly damaging Het
Unc79 T A 12: 103,060,654 (GRCm39) probably null Het
Vmn2r71 A T 7: 85,272,877 (GRCm39) N564Y probably damaging Het
Zfp638 G T 6: 83,953,557 (GRCm39) E1221* probably null Het
Zfp934 A T 13: 62,665,527 (GRCm39) H371Q probably damaging Het
Zranb3 A G 1: 127,968,726 (GRCm39) L63P probably damaging Het
Other mutations in Pabpn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTGGCTCTAGAGAAGGTAAATTGAC -3'
(R):5'- CGTAATGGACTATGACCACAGC -3'

Sequencing Primer
(F):5'- GGAAATGGCCGAGCACG -3'
(R):5'- TGGACTATGACCACAGCACCTG -3'
Posted On 2016-07-06