Incidental Mutation 'IGL02751:Hnrnpdl'
ID306295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpdl
Ensembl Gene ENSMUSG00000029328
Gene Nameheterogeneous nuclear ribonucleoprotein D-like
SynonymsJKTBP, D5Wsu145e, hnRNP-DL, D5Ertd650e, Hnrpdl
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.332) question?
Stock #IGL02751
Quality Score
Status
Chromosome5
Chromosomal Location100033577-100039664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100037974 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 151 (F151L)
Ref Sequence ENSEMBL: ENSMUSP00000121005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031268] [ENSMUST00000086900] [ENSMUST00000128187] [ENSMUST00000149384] [ENSMUST00000169390]
Predicted Effect probably benign
Transcript: ENSMUST00000031268
SMART Domains Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326

DomainStartEndE-ValueType
Pfam:HAD_2 13 227 2.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000086900
AA Change: F151L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: F151L

DomainStartEndE-ValueType
low complexity region 31 57 N/A INTRINSIC
low complexity region 70 88 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
RRM 149 221 1.74e-23 SMART
RRM 234 306 3.56e-20 SMART
low complexity region 315 344 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
low complexity region 370 393 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128187
AA Change: F151L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: F151L

DomainStartEndE-ValueType
low complexity region 31 57 N/A INTRINSIC
low complexity region 70 88 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
RRM 149 221 1.74e-23 SMART
RRM 234 306 3.56e-20 SMART
low complexity region 315 344 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
low complexity region 370 393 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141337
Predicted Effect probably benign
Transcript: ENSMUST00000149384
SMART Domains Protein: ENSMUSP00000117589
Gene: ENSMUSG00000029328

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
Blast:RRM 28 59 1e-13 BLAST
low complexity region 63 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151323
Predicted Effect unknown
Transcript: ENSMUST00000153442
AA Change: F53L
SMART Domains Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: F53L

DomainStartEndE-ValueType
RRM 52 124 1.74e-23 SMART
RRM 137 209 3.56e-20 SMART
low complexity region 218 247 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
low complexity region 273 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169390
SMART Domains Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326

DomainStartEndE-ValueType
Pfam:HAD_2 13 227 2.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199518
Coding Region Coverage
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 RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Hnrnpdl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02981:Hnrnpdl APN 5 100037099 missense possibly damaging 0.75
IGL03087:Hnrnpdl APN 5 100037601 missense probably damaging 1.00
R4756:Hnrnpdl UTSW 5 100037924 nonsense probably null
R4812:Hnrnpdl UTSW 5 100036472 unclassified probably benign
R5154:Hnrnpdl UTSW 5 100036512 nonsense probably null
R6082:Hnrnpdl UTSW 5 100036481 missense probably null 1.00
R6086:Hnrnpdl UTSW 5 100036481 missense probably null 1.00
R6143:Hnrnpdl UTSW 5 100036551 nonsense probably null
R6305:Hnrnpdl UTSW 5 100038658 unclassified probably benign
R6807:Hnrnpdl UTSW 5 100039136 missense probably null
R7309:Hnrnpdl UTSW 5 100037623 nonsense probably null
R7449:Hnrnpdl UTSW 5 100037155 missense probably damaging 0.99
X0020:Hnrnpdl UTSW 5 100036569 missense probably damaging 0.96
Posted On2015-04-16