Incidental Mutation 'R7391:Hnrnpu'
ID 573406
Institutional Source Beutler Lab
Gene Symbol Hnrnpu
Ensembl Gene ENSMUSG00000039630
Gene Name heterogeneous nuclear ribonucleoprotein U
Synonyms Sp120, scaffold attachment factor A, Hnrpu
MMRRC Submission 045473-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7391 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 178148673-178165362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 178164643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 165 (Q165R)
Ref Sequence ENSEMBL: ENSMUSP00000047571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037748] [ENSMUST00000161769]
AlphaFold Q8VEK3
Predicted Effect unknown
Transcript: ENSMUST00000037748
AA Change: Q165R
SMART Domains Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: Q165R

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 2e-30 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 791 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000161769
AA Change: Q165R
SMART Domains Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: Q165R

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 6.7e-31 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 773 N/A INTRINSIC
Meta Mutation Damage Score 0.0629 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality, delayed embryonic development, and failure of chorioallantoic fusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A T 10: 18,522,007 (GRCm39) I673K probably benign Het
Arhgap32 C A 9: 32,093,235 (GRCm39) T196K probably benign Het
Azi2 T A 9: 117,879,960 (GRCm39) probably null Het
B3gnt2 A T 11: 22,786,482 (GRCm39) C235* probably null Het
Capn5 C T 7: 97,780,426 (GRCm39) V315M probably benign Het
Ccl24 T A 5: 135,599,676 (GRCm39) R111S possibly damaging Het
Cdk9 A G 2: 32,602,083 (GRCm39) V45A probably damaging Het
Cep162 G T 9: 87,130,547 (GRCm39) S21* probably null Het
Chil3 T A 3: 106,071,496 (GRCm39) Y56F probably damaging Het
Ctr9 T A 7: 110,642,378 (GRCm39) L368* probably null Het
Ctss A G 3: 95,436,852 (GRCm39) E45G probably benign Het
Cyp2c29 A T 19: 39,296,211 (GRCm39) Q214L probably null Het
Cyp2d34 T A 15: 82,502,587 (GRCm39) N183I probably benign Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Elp1 C A 4: 56,781,211 (GRCm39) Q487H possibly damaging Het
Elp1 T G 4: 56,781,212 (GRCm39) Q487P probably benign Het
Ermp1 C A 19: 29,604,468 (GRCm39) probably null Het
Ermp1 T A 19: 29,604,469 (GRCm39) probably null Het
Evi2 A G 11: 79,406,493 (GRCm39) S361P probably benign Het
Ext2 T A 2: 93,560,612 (GRCm39) K518M probably damaging Het
Fgl1 A C 8: 41,663,483 (GRCm39) M15R probably benign Het
Fsip2 T G 2: 82,820,663 (GRCm39) D5465E possibly damaging Het
Hdlbp A T 1: 93,358,783 (GRCm39) I256N possibly damaging Het
Hmmr G T 11: 40,598,613 (GRCm39) probably null Het
Homer3 G A 8: 70,742,134 (GRCm39) A132T probably benign Het
Ift70a1 T C 2: 75,810,359 (GRCm39) K575E probably benign Het
Kcnb1 T C 2: 166,947,370 (GRCm39) R493G probably damaging Het
Kcnn3 A T 3: 89,516,778 (GRCm39) T396S probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krtap4-1 A G 11: 99,518,810 (GRCm39) S67P unknown Het
Lama4 G T 10: 38,963,383 (GRCm39) probably null Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Mical2 A T 7: 111,919,816 (GRCm39) E442V probably damaging Het
Muc16 C T 9: 18,550,832 (GRCm39) V5154I probably benign Het
Nav3 A T 10: 109,539,317 (GRCm39) M2028K probably benign Het
Ncr1 T A 7: 4,347,470 (GRCm39) W249R possibly damaging Het
Neurod6 T C 6: 55,656,616 (GRCm39) D7G probably damaging Het
Nwd1 A G 8: 73,389,046 (GRCm39) E158G probably damaging Het
Or10ak7 A T 4: 118,791,198 (GRCm39) N282K possibly damaging Het
Or2h15 A T 17: 38,441,941 (GRCm39) F47L probably benign Het
Or2t26 A G 11: 49,039,806 (GRCm39) T241A probably damaging Het
Or2y11 T C 11: 49,443,371 (GRCm39) S266P probably damaging Het
Or51a39 T C 7: 102,363,189 (GRCm39) N144D probably benign Het
Padi2 A G 4: 140,665,266 (GRCm39) D457G probably benign Het
Parn C A 16: 13,485,870 (GRCm39) probably null Het
Pcdh1 C T 18: 38,335,838 (GRCm39) E266K possibly damaging Het
Pigr A G 1: 130,777,303 (GRCm39) D703G probably damaging Het
Ppm1f T A 16: 16,732,098 (GRCm39) S183T probably benign Het
Ppp2r5b T A 19: 6,278,544 (GRCm39) Q455L probably benign Het
Pramel20 T A 4: 143,298,876 (GRCm39) L273H probably damaging Het
Ptpn13 C T 5: 103,688,847 (GRCm39) S880L probably damaging Het
R3hdm4 T C 10: 79,746,943 (GRCm39) K240R probably benign Het
Rin1 T C 19: 5,100,888 (GRCm39) M1T probably null Het
Rundc3b T A 5: 8,609,455 (GRCm39) M170L probably benign Het
Ryr3 A T 2: 112,611,322 (GRCm39) probably null Het
Scn11a T C 9: 119,624,783 (GRCm39) D513G probably damaging Het
Slc27a2 C A 2: 126,395,082 (GRCm39) P3Q unknown Het
Slc4a8 A G 15: 100,682,743 (GRCm39) I187M probably damaging Het
Slc6a11 A T 6: 114,215,422 (GRCm39) I441F probably benign Het
Stx2 C T 5: 129,065,867 (GRCm39) R263Q probably damaging Het
Svep1 A T 4: 58,145,185 (GRCm39) W427R probably damaging Het
Tes T A 6: 17,096,166 (GRCm39) H51Q probably damaging Het
Thnsl2 T C 6: 71,108,914 (GRCm39) D299G probably damaging Het
Tmem30b T C 12: 73,592,702 (GRCm39) S138G probably benign Het
Tmprss11c T A 5: 86,385,650 (GRCm39) H274L probably damaging Het
Trim10 G A 17: 37,180,773 (GRCm39) M1I probably null Het
Unc13b A G 4: 43,216,459 (GRCm39) I253V probably benign Het
Unc80 A G 1: 66,734,687 (GRCm39) S3305G probably benign Het
Ush2a TCACC TC 1: 188,694,205 (GRCm39) probably benign Het
Virma A G 4: 11,508,099 (GRCm39) D267G probably damaging Het
Vmn1r46 C T 6: 89,953,607 (GRCm39) S152L probably benign Het
Wdr90 T C 17: 26,065,502 (GRCm39) N1621S probably benign Het
Zfhx3 G A 8: 109,674,475 (GRCm39) A1842T probably damaging Het
Zfp583 A G 7: 6,319,498 (GRCm39) S505P probably damaging Het
Zfp608 T C 18: 55,030,619 (GRCm39) Y1107C possibly damaging Het
Zfp616 A G 11: 73,976,155 (GRCm39) H808R probably benign Het
Zfp677 T C 17: 21,618,653 (GRCm39) F570S possibly damaging Het
Zfp85 A T 13: 67,897,410 (GRCm39) Y221N probably damaging Het
Other mutations in Hnrnpu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03117:Hnrnpu APN 1 178,158,339 (GRCm39) unclassified probably benign
R1136:Hnrnpu UTSW 1 178,158,790 (GRCm39) unclassified probably benign
R1205:Hnrnpu UTSW 1 178,159,734 (GRCm39) unclassified probably benign
R1317:Hnrnpu UTSW 1 178,157,822 (GRCm39) unclassified probably benign
R1318:Hnrnpu UTSW 1 178,157,822 (GRCm39) unclassified probably benign
R1778:Hnrnpu UTSW 1 178,152,806 (GRCm39) critical splice donor site probably benign
R3160:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R3161:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R3162:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R3162:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R4408:Hnrnpu UTSW 1 178,158,368 (GRCm39) unclassified probably benign
R4667:Hnrnpu UTSW 1 178,159,746 (GRCm39) unclassified probably benign
R4833:Hnrnpu UTSW 1 178,161,459 (GRCm39) unclassified probably benign
R4906:Hnrnpu UTSW 1 178,156,938 (GRCm39) intron probably benign
R4923:Hnrnpu UTSW 1 178,159,017 (GRCm39) unclassified probably benign
R5000:Hnrnpu UTSW 1 178,156,941 (GRCm39) intron probably benign
R5256:Hnrnpu UTSW 1 178,163,458 (GRCm39) missense unknown
R5307:Hnrnpu UTSW 1 178,164,877 (GRCm39) missense unknown
R5911:Hnrnpu UTSW 1 178,157,737 (GRCm39) unclassified probably benign
R6931:Hnrnpu UTSW 1 178,158,997 (GRCm39) unclassified probably benign
R7061:Hnrnpu UTSW 1 178,163,691 (GRCm39) missense unknown
R7077:Hnrnpu UTSW 1 178,159,756 (GRCm39) missense unknown
R7423:Hnrnpu UTSW 1 178,156,849 (GRCm39) intron probably benign
R7991:Hnrnpu UTSW 1 178,159,871 (GRCm39) missense unknown
R8037:Hnrnpu UTSW 1 178,159,917 (GRCm39) missense unknown
R8161:Hnrnpu UTSW 1 178,165,067 (GRCm39) missense possibly damaging 0.95
R8265:Hnrnpu UTSW 1 178,159,725 (GRCm39) missense unknown
R8537:Hnrnpu UTSW 1 178,161,199 (GRCm39) unclassified probably benign
Z1176:Hnrnpu UTSW 1 178,159,780 (GRCm39) missense unknown
Z1186:Hnrnpu UTSW 1 178,164,591 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- ATACATAATGGAGGCGCCG -3'
(R):5'- CAAGGCCGATCTCATGGATC -3'

Sequencing Primer
(F):5'- CGGCATGGCGAGCAGAG -3'
(R):5'- AACGGCAGTCTCGACCTAG -3'
Posted On 2019-09-13