Incidental Mutation 'R2679:Hnrnpul1'
ID 250757
Institutional Source Beutler Lab
Gene Symbol Hnrnpul1
Ensembl Gene ENSMUSG00000040725
Gene Name heterogeneous nuclear ribonucleoprotein U-like 1
Synonyms E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5
MMRRC Submission 040432-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.621) question?
Stock # R2679 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25420590-25454182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25426300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 517 (R517Q)
Ref Sequence ENSEMBL: ENSMUSP00000146263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043765] [ENSMUST00000206832]
AlphaFold Q8VDM6
Predicted Effect probably damaging
Transcript: ENSMUST00000043765
AA Change: R417Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: R417Q

DomainStartEndE-ValueType
SAP 3 37 2.86e-10 SMART
low complexity region 62 74 N/A INTRINSIC
low complexity region 78 91 N/A INTRINSIC
low complexity region 201 209 N/A INTRINSIC
SPRY 255 388 8.49e-41 SMART
Pfam:AAA_33 424 569 1.4e-29 PFAM
low complexity region 613 626 N/A INTRINSIC
low complexity region 631 693 N/A INTRINSIC
low complexity region 695 718 N/A INTRINSIC
low complexity region 745 765 N/A INTRINSIC
low complexity region 768 859 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000206832
AA Change: R517Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6851 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic2 A G 11: 81,042,780 (GRCm39) V171A probably benign Het
Atf7ip A T 6: 136,543,649 (GRCm39) I641L possibly damaging Het
Atrn G A 2: 130,803,595 (GRCm39) probably null Het
Bpifb4 T C 2: 153,790,544 (GRCm39) I145T probably damaging Het
Bub3 A G 7: 131,170,454 (GRCm39) probably null Het
Catsperb T A 12: 101,429,404 (GRCm39) D192E probably damaging Het
Ccdc178 G A 18: 21,944,613 (GRCm39) H849Y possibly damaging Het
Cd101 G T 3: 100,901,079 (GRCm39) Q998K probably benign Het
Cep135 A T 5: 76,772,507 (GRCm39) M631L probably benign Het
Cit T C 5: 116,107,174 (GRCm39) V1102A probably benign Het
Col4a4 G A 1: 82,507,332 (GRCm39) T249M unknown Het
Cpne6 A T 14: 55,753,786 (GRCm39) I415F possibly damaging Het
Cyp4b1 T C 4: 115,485,894 (GRCm39) I348V probably benign Het
Defb28 T C 2: 152,360,202 (GRCm39) S6P possibly damaging Het
Dhrs7b A G 11: 60,743,344 (GRCm39) probably benign Het
Dhx29 T C 13: 113,083,910 (GRCm39) probably null Het
Egfem1 A G 3: 29,724,825 (GRCm39) T476A probably benign Het
Enpp5 A G 17: 44,396,279 (GRCm39) D397G probably damaging Het
Eogt G A 6: 97,097,761 (GRCm39) T279I probably benign Het
Fnip2 G A 3: 79,388,233 (GRCm39) H833Y probably benign Het
Gabrr2 A T 4: 33,071,435 (GRCm39) T92S probably damaging Het
Gm10110 T A 14: 90,134,852 (GRCm39) noncoding transcript Het
Gria2 A G 3: 80,648,260 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,528,326 (GRCm39) T3274N possibly damaging Het
Hspa1b T C 17: 35,176,279 (GRCm39) K569E probably benign Het
Ighv1-82 T C 12: 115,916,372 (GRCm39) Y46C probably damaging Het
Itga3 A T 11: 94,959,136 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,880,745 (GRCm39) R552* probably null Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Muc4 T A 16: 32,577,846 (GRCm39) D2374E unknown Het
Myl9 T A 2: 156,622,426 (GRCm39) L70Q probably damaging Het
Nebl C T 2: 17,429,402 (GRCm39) S243N probably benign Het
Nfat5 A G 8: 108,071,546 (GRCm39) Y314C probably damaging Het
Nr2f6 T A 8: 71,827,380 (GRCm39) D307V probably damaging Het
Nrp2 T C 1: 62,824,237 (GRCm39) S781P probably benign Het
Nub1 C T 5: 24,897,923 (GRCm39) T103I possibly damaging Het
Or4b1d A T 2: 89,968,889 (GRCm39) V198D possibly damaging Het
Or51h5 T A 7: 102,577,238 (GRCm39) Y134* probably null Het
Pex5l A T 3: 33,136,201 (GRCm39) M6K probably benign Het
Pgm3 A C 9: 86,451,374 (GRCm39) C93W probably benign Het
Pkhd1 A G 1: 20,279,406 (GRCm39) S2971P probably benign Het
Pkhd1l1 T C 15: 44,408,782 (GRCm39) L2423P probably damaging Het
Prkce A G 17: 86,483,654 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,494,615 (GRCm39) probably benign Het
Ptgis T A 2: 167,050,113 (GRCm39) M339L probably benign Het
Pxdn T C 12: 30,025,568 (GRCm39) probably benign Het
Rab44 T A 17: 29,363,451 (GRCm39) probably null Het
Ric1 A G 19: 29,581,430 (GRCm39) S1275G probably benign Het
Rnf213 C A 11: 119,350,764 (GRCm39) probably null Het
Rtn4rl1 A T 11: 75,156,552 (GRCm39) E328V probably benign Het
Saraf C T 8: 34,632,428 (GRCm39) T169I probably damaging Het
Sbk2 T A 7: 4,960,119 (GRCm39) probably null Het
Setd1a T G 7: 127,394,896 (GRCm39) probably benign Het
Sit1 A G 4: 43,483,157 (GRCm39) Y73H probably damaging Het
Slc44a4 T C 17: 35,142,399 (GRCm39) probably benign Het
Spopfm1 A T 3: 94,173,217 (GRCm39) Y75F probably damaging Het
Tas2r125 A G 6: 132,887,190 (GRCm39) T193A probably benign Het
Tbc1d9b T A 11: 50,052,528 (GRCm39) probably null Het
Tcf7l1 G T 6: 72,604,403 (GRCm39) H580Q probably benign Het
Tead1 T G 7: 112,456,053 (GRCm39) S115A probably damaging Het
Top2b G A 14: 16,413,947 (GRCm38) G29D probably damaging Het
Trpv4 A T 5: 114,773,613 (GRCm39) C250S probably damaging Het
U2surp A C 9: 95,358,285 (GRCm39) I655S possibly damaging Het
Ube2a G A X: 36,138,360 (GRCm39) probably benign Het
Ubl7 A G 9: 57,821,882 (GRCm39) D77G probably damaging Het
Vmn1r91 T C 7: 19,835,983 (GRCm39) C301R probably damaging Het
Vmn2r90 A T 17: 17,933,131 (GRCm39) R230S possibly damaging Het
Wdfy3 T A 5: 102,017,902 (GRCm39) E2560V probably damaging Het
Zfp273 C T 13: 67,973,895 (GRCm39) A341V probably benign Het
Zfp512 C T 5: 31,622,798 (GRCm39) A33V probably benign Het
Other mutations in Hnrnpul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Hnrnpul1 APN 7 25,425,579 (GRCm39) missense possibly damaging 0.74
IGL01287:Hnrnpul1 APN 7 25,426,323 (GRCm39) missense probably damaging 1.00
IGL01409:Hnrnpul1 APN 7 25,424,077 (GRCm39) missense unknown
IGL02026:Hnrnpul1 APN 7 25,444,587 (GRCm39) missense probably damaging 0.99
IGL02073:Hnrnpul1 APN 7 25,421,766 (GRCm39) unclassified probably benign
IGL02474:Hnrnpul1 APN 7 25,426,182 (GRCm39) missense probably benign 0.02
IGL02839:Hnrnpul1 APN 7 25,432,667 (GRCm39) critical splice donor site probably null
IGL02894:Hnrnpul1 APN 7 25,450,329 (GRCm39) missense possibly damaging 0.70
IGL03382:Hnrnpul1 APN 7 25,450,409 (GRCm39) start codon destroyed probably null 0.53
R0011:Hnrnpul1 UTSW 7 25,442,340 (GRCm39) splice site probably benign
R0525:Hnrnpul1 UTSW 7 25,440,308 (GRCm39) missense possibly damaging 0.72
R0587:Hnrnpul1 UTSW 7 25,444,657 (GRCm39) missense possibly damaging 0.70
R1121:Hnrnpul1 UTSW 7 25,440,332 (GRCm39) missense possibly damaging 0.68
R1313:Hnrnpul1 UTSW 7 25,422,341 (GRCm39) unclassified probably benign
R1313:Hnrnpul1 UTSW 7 25,422,341 (GRCm39) unclassified probably benign
R1880:Hnrnpul1 UTSW 7 25,432,523 (GRCm39) missense possibly damaging 0.95
R1892:Hnrnpul1 UTSW 7 25,426,191 (GRCm39) missense probably benign 0.11
R2113:Hnrnpul1 UTSW 7 25,432,694 (GRCm39) missense possibly damaging 0.47
R2194:Hnrnpul1 UTSW 7 25,425,347 (GRCm39) critical splice donor site probably null
R2269:Hnrnpul1 UTSW 7 25,450,299 (GRCm39) missense probably damaging 0.98
R3079:Hnrnpul1 UTSW 7 25,432,540 (GRCm39) nonsense probably null
R3917:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R4077:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R4079:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R4181:Hnrnpul1 UTSW 7 25,426,237 (GRCm39) missense probably damaging 0.98
R4449:Hnrnpul1 UTSW 7 25,421,709 (GRCm39) unclassified probably benign
R4707:Hnrnpul1 UTSW 7 25,426,258 (GRCm39) missense probably damaging 1.00
R4764:Hnrnpul1 UTSW 7 25,442,436 (GRCm39) missense probably benign 0.00
R5040:Hnrnpul1 UTSW 7 25,442,414 (GRCm39) missense possibly damaging 0.86
R5131:Hnrnpul1 UTSW 7 25,426,219 (GRCm39) missense probably benign 0.08
R5224:Hnrnpul1 UTSW 7 25,444,600 (GRCm39) missense probably damaging 0.98
R5599:Hnrnpul1 UTSW 7 25,454,097 (GRCm39) start gained probably benign
R5975:Hnrnpul1 UTSW 7 25,453,784 (GRCm39) missense possibly damaging 0.93
R7032:Hnrnpul1 UTSW 7 25,450,319 (GRCm39) missense probably benign 0.11
R7195:Hnrnpul1 UTSW 7 25,424,203 (GRCm39) missense unknown
R7231:Hnrnpul1 UTSW 7 25,447,842 (GRCm39) nonsense probably null
R7667:Hnrnpul1 UTSW 7 25,453,846 (GRCm39) missense probably damaging 0.99
R8017:Hnrnpul1 UTSW 7 25,447,889 (GRCm39) missense probably benign 0.03
R8060:Hnrnpul1 UTSW 7 25,447,768 (GRCm39) missense possibly damaging 0.54
R8319:Hnrnpul1 UTSW 7 25,453,902 (GRCm39) missense probably benign
R8356:Hnrnpul1 UTSW 7 25,422,247 (GRCm39) unclassified probably benign
Z1176:Hnrnpul1 UTSW 7 25,424,123 (GRCm39) missense unknown
Z1176:Hnrnpul1 UTSW 7 25,424,089 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GATGCTGTTAAAATGGCCCC -3'
(R):5'- ATTGGGAGCCAACCTCTTTG -3'

Sequencing Primer
(F):5'- GCTGTTAAAATGGCCCCCAACC -3'
(R):5'- CATTTGCTTAGATGGACATGAGTTC -3'
Posted On 2014-12-04