Incidental Mutation 'R7061:Hnrnpu'
ID 548235
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 045384-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7061 (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 178163691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 218 (K218E)
Ref Sequence ENSEMBL: ENSMUSP00000124147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037748] [ENSMUST00000161769]
AlphaFold Q8VEK3
Predicted Effect unknown
Transcript: ENSMUST00000037748
AA Change: K218E
SMART Domains Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: K218E

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: K218E
SMART Domains Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: K218E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (68/69)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aard G A 15: 51,903,617 (GRCm39) M13I probably benign Het
Abcb5 A C 12: 118,841,509 (GRCm39) Y979D probably damaging Het
Adgrb1 G C 15: 74,441,730 (GRCm39) V4L probably benign Het
Ap3b2 C T 7: 81,110,757 (GRCm39) R1006Q unknown Het
Bpifa6 A T 2: 153,834,236 (GRCm39) T343S probably benign Het
Celsr3 T A 9: 108,724,793 (GRCm39) C2957* probably null Het
Chd6 G A 2: 160,867,885 (GRCm39) Q428* probably null Het
Col5a1 C A 2: 27,915,690 (GRCm39) C191* probably null Het
Cpox A G 16: 58,491,223 (GRCm39) I145V possibly damaging Het
Csnk2a1 C T 2: 152,116,091 (GRCm39) R268C probably benign Het
Dclk2 A G 3: 86,739,038 (GRCm39) probably null Het
Dennd5a T C 7: 109,504,386 (GRCm39) E909G probably benign Het
Depdc1a T A 3: 159,228,489 (GRCm39) S414T possibly damaging Het
Dock5 A G 14: 68,007,703 (GRCm39) F1502S probably damaging Het
Dop1b G T 16: 93,558,951 (GRCm39) A448S probably benign Het
Dsg1c C A 18: 20,410,066 (GRCm39) N511K probably benign Het
Epc2 G T 2: 49,425,334 (GRCm39) R108L probably damaging Het
Erp44 T A 4: 48,219,375 (GRCm39) I147F probably benign Het
Evc T C 5: 37,476,446 (GRCm39) T368A possibly damaging Het
Fbxo41 G T 6: 85,452,448 (GRCm39) R738S probably benign Het
Fli1 T C 9: 32,335,518 (GRCm39) T305A probably damaging Het
Grk5 A G 19: 61,034,530 (GRCm39) T93A probably benign Het
Grm2 A T 9: 106,528,424 (GRCm39) N153K probably damaging Het
Helz A G 11: 107,540,003 (GRCm39) T1007A possibly damaging Het
Helz2 A G 2: 180,882,307 (GRCm39) L162P probably damaging Het
Hmgcr T A 13: 96,802,656 (GRCm39) Q81L possibly damaging Het
Hydin A T 8: 111,329,920 (GRCm39) I4885F possibly damaging Het
Ibsp A G 5: 104,457,768 (GRCm39) probably null Het
Igfals T C 17: 25,099,281 (GRCm39) L124P probably damaging Het
Il24 T A 1: 130,811,108 (GRCm39) H142L possibly damaging Het
Iqca1l A G 5: 24,750,063 (GRCm39) M660T probably benign Het
Kcnh2 A T 5: 24,536,920 (GRCm39) H221Q probably benign Het
Man1a A G 10: 53,796,331 (GRCm39) S454P probably damaging Het
Meiosin A T 7: 18,834,053 (GRCm39) probably benign Het
Mfsd4b1 C T 10: 39,879,382 (GRCm39) V172M possibly damaging Het
Mical2 T A 7: 111,946,008 (GRCm39) I763K probably benign Het
Mybpc3 A G 2: 90,955,749 (GRCm39) I594M possibly damaging Het
Neo1 T A 9: 58,897,724 (GRCm39) R77S possibly damaging Het
Nlrp6 A G 7: 140,502,780 (GRCm39) I265M probably benign Het
Or52n5 T C 7: 104,587,883 (GRCm39) L50P probably damaging Het
Or5bw2 A G 7: 6,573,782 (GRCm39) Y264C probably damaging Het
Or8b9 T A 9: 37,766,942 (GRCm39) V276D possibly damaging Het
Pcdhgb5 C A 18: 37,864,976 (GRCm39) P257Q probably benign Het
Phactr1 A G 13: 43,286,457 (GRCm39) D586G probably damaging Het
Pkn3 T A 2: 29,973,548 (GRCm39) probably null Het
Prob1 A T 18: 35,787,553 (GRCm39) S234T probably benign Het
Rab14 A T 2: 35,073,429 (GRCm39) L131* probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rhebl1 A G 15: 98,777,164 (GRCm39) L103P probably damaging Het
Rnf10 G T 5: 115,395,149 (GRCm39) F146L probably damaging Het
Rrbp1 T C 2: 143,831,087 (GRCm39) K360R possibly damaging Het
Slc6a9 C T 4: 117,725,261 (GRCm39) T575I probably benign Het
Smo A G 6: 29,760,229 (GRCm39) H776R probably damaging Het
Speer1f T C 5: 11,469,071 (GRCm39) V74A possibly damaging Het
Tns2 A G 15: 102,012,914 (GRCm39) M1V probably null Het
Ttn C A 2: 76,725,036 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,306,240 (GRCm39) M130L probably benign Het
Urb2 C T 8: 124,755,036 (GRCm39) H248Y probably benign Het
Vit A T 17: 78,932,585 (GRCm39) N564I probably damaging Het
Vmn1r60 A T 7: 5,547,310 (GRCm39) Y263* probably null Het
Vmn2r16 A T 5: 109,511,620 (GRCm39) Y609F probably damaging Het
Xpo7 T C 14: 70,908,512 (GRCm39) I876V probably benign Het
Zfp442 A G 2: 150,249,937 (GRCm39) I655T probably benign Het
Zfp574 T A 7: 24,779,622 (GRCm39) C215S possibly damaging Het
Zfp608 T C 18: 55,121,069 (GRCm39) T173A probably benign Het
Zfp69 A T 4: 120,788,598 (GRCm39) V239D possibly 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
R7077:Hnrnpu UTSW 1 178,159,756 (GRCm39) missense unknown
R7391:Hnrnpu UTSW 1 178,164,643 (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'- TTCAACAGGTGGCTGAGGAG -3'
(R):5'- TGTCCAGTCCAAGTCCAGAC -3'

Sequencing Primer
(F):5'- CTGAGGAGACTTGGCTCTGAAAGAC -3'
(R):5'- TCTTGAGGCTCGAAACAC -3'
Posted On 2019-05-13