Incidental Mutation 'R5606:Hnrnph3'
ID 439300
Institutional Source Beutler Lab
Gene Symbol Hnrnph3
Ensembl Gene ENSMUSG00000020069
Gene Name heterogeneous nuclear ribonucleoprotein H3
Synonyms Hnrph3, hnRNP 2H9
MMRRC Submission 043157-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R5606 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62850443-62859764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62855222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 21 (R21H)
Ref Sequence ENSEMBL: ENSMUSP00000118444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020263] [ENSMUST00000118898] [ENSMUST00000119814] [ENSMUST00000124784] [ENSMUST00000140743] [ENSMUST00000143594]
AlphaFold D3Z3N4
Predicted Effect unknown
Transcript: ENSMUST00000020263
AA Change: R21H
SMART Domains Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069
AA Change: R21H

DomainStartEndE-ValueType
RRM 17 89 1.11e-7 SMART
low complexity region 102 191 N/A INTRINSIC
RRM 196 266 7.96e-9 SMART
low complexity region 272 286 N/A INTRINSIC
low complexity region 294 341 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000118898
AA Change: R21H
SMART Domains Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069
AA Change: R21H

DomainStartEndE-ValueType
RRM 17 89 1.11e-7 SMART
low complexity region 102 176 N/A INTRINSIC
RRM 181 251 7.96e-9 SMART
low complexity region 257 271 N/A INTRINSIC
low complexity region 279 326 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119814
AA Change: R21H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113134
Gene: ENSMUSG00000020069
AA Change: R21H

DomainStartEndE-ValueType
PDB:1WG5|A 10 39 3e-11 PDB
Blast:RRM 17 43 6e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000124784
SMART Domains Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 69 175 1.5e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140743
AA Change: R21H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118444
Gene: ENSMUSG00000020069
AA Change: R21H

DomainStartEndE-ValueType
PDB:1WG5|A 10 39 3e-11 PDB
Blast:RRM 17 43 6e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143689
Predicted Effect probably benign
Transcript: ENSMUST00000143594
SMART Domains Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 406 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency
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 complex 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 has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,699,731 (GRCm39) S75P probably damaging Het
Ankib1 A T 5: 3,751,907 (GRCm39) I711N probably damaging Het
Ankmy2 A G 12: 36,215,920 (GRCm39) N40S probably benign Het
Armc8 T C 9: 99,418,315 (GRCm39) K80E probably benign Het
Blm C A 7: 80,110,580 (GRCm39) probably null Het
Cand1 C A 10: 119,047,359 (GRCm39) Q710H possibly damaging Het
Ckap2l A T 2: 129,127,959 (GRCm39) I73N probably damaging Het
Ddx27 T A 2: 166,861,886 (GRCm39) D129E probably benign Het
Dnm3 T C 1: 162,113,587 (GRCm39) E491G probably damaging Het
Fgd6 C A 10: 93,974,190 (GRCm39) Y1310* probably null Het
Hs3st4 C A 7: 123,996,365 (GRCm39) Q344K probably damaging Het
Hyal3 T C 9: 107,462,265 (GRCm39) S100P probably benign Het
Map3k19 G A 1: 127,750,694 (GRCm39) R886C probably benign Het
Mmrn2 G A 14: 34,119,581 (GRCm39) D187N probably damaging Het
Myo5c G A 9: 75,182,790 (GRCm39) A810T probably damaging Het
Noxa1 T A 2: 24,976,292 (GRCm39) E332V possibly damaging Het
Or10al7 T C 17: 38,365,693 (GRCm39) T264A probably damaging Het
Or12j5 T A 7: 140,083,713 (GRCm39) I220F probably damaging Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or7c70 A G 10: 78,683,395 (GRCm39) M118T probably benign Het
Parg T A 14: 31,984,693 (GRCm39) V241E probably damaging Het
Pitrm1 T A 13: 6,610,101 (GRCm39) V391D probably damaging Het
Plch1 A T 3: 63,648,108 (GRCm39) V421E probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Spta1 A T 1: 174,047,468 (GRCm39) H1704L probably damaging Het
Tbpl2 G A 2: 23,977,245 (GRCm39) P258S possibly damaging Het
Thoc2l T C 5: 104,669,744 (GRCm39) I1422T probably benign Het
Tlr11 T C 14: 50,599,717 (GRCm39) C568R probably benign Het
Tmem260 T A 14: 48,722,437 (GRCm39) M324K probably damaging Het
Tmprss11g T A 5: 86,635,269 (GRCm39) T402S probably damaging Het
Trim21 C G 7: 102,208,813 (GRCm39) R302P probably damaging Het
Uox T A 3: 146,316,057 (GRCm39) Y21* probably null Het
Vmn1r74 A G 7: 11,580,822 (GRCm39) M41V probably benign Het
Vmn2r59 A C 7: 41,695,318 (GRCm39) S365A probably benign Het
Zfp345 A T 2: 150,316,788 (GRCm39) Y6* probably null Het
Zpld2 A C 4: 133,927,523 (GRCm39) V410G probably benign Het
Other mutations in Hnrnph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Hnrnph3 APN 10 62,853,903 (GRCm39) makesense probably null
IGL02112:Hnrnph3 APN 10 62,852,184 (GRCm39) critical splice donor site probably null
IGL02116:Hnrnph3 APN 10 62,851,855 (GRCm39) intron probably benign
IGL02193:Hnrnph3 APN 10 62,853,056 (GRCm39) missense probably damaging 0.98
IGL02211:Hnrnph3 APN 10 62,853,121 (GRCm39) unclassified probably benign
IGL02410:Hnrnph3 APN 10 62,851,503 (GRCm39) intron probably benign
IGL02616:Hnrnph3 APN 10 62,855,264 (GRCm39) missense possibly damaging 0.66
IGL03033:Hnrnph3 APN 10 62,853,958 (GRCm39) missense probably benign 0.00
IGL03367:Hnrnph3 APN 10 62,853,008 (GRCm39) missense probably damaging 1.00
R0450:Hnrnph3 UTSW 10 62,855,279 (GRCm39) missense probably damaging 0.99
R0450:Hnrnph3 UTSW 10 62,853,994 (GRCm39) missense probably benign 0.01
R0469:Hnrnph3 UTSW 10 62,855,279 (GRCm39) missense probably damaging 0.99
R0469:Hnrnph3 UTSW 10 62,853,994 (GRCm39) missense probably benign 0.01
R1585:Hnrnph3 UTSW 10 62,851,579 (GRCm39) critical splice donor site probably null
R4285:Hnrnph3 UTSW 10 62,852,247 (GRCm39) missense probably damaging 1.00
R4706:Hnrnph3 UTSW 10 62,853,059 (GRCm39) missense probably damaging 1.00
R5873:Hnrnph3 UTSW 10 62,855,170 (GRCm39) critical splice donor site probably null
R5952:Hnrnph3 UTSW 10 62,851,374 (GRCm39) intron probably benign
R6059:Hnrnph3 UTSW 10 62,854,641 (GRCm39) unclassified probably benign
R6644:Hnrnph3 UTSW 10 62,854,672 (GRCm39) unclassified probably benign
R7517:Hnrnph3 UTSW 10 62,854,674 (GRCm39) missense unknown
R9374:Hnrnph3 UTSW 10 62,853,957 (GRCm39) missense probably benign 0.01
R9436:Hnrnph3 UTSW 10 62,854,627 (GRCm39) nonsense probably null
R9437:Hnrnph3 UTSW 10 62,854,627 (GRCm39) nonsense probably null
R9781:Hnrnph3 UTSW 10 62,853,861 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAATGTTCACAGAGCCTACAC -3'
(R):5'- GGAGTCACTTTAACTTTTGCATGC -3'

Sequencing Primer
(F):5'- ATGTTCACAGAGCCTACACATTCTC -3'
(R):5'- CATGCATTTTGAGCTGTGACAC -3'
Posted On 2016-10-26