Incidental Mutation 'R8695:Hnrnpm'
ID 668660
Institutional Source Beutler Lab
Gene Symbol Hnrnpm
Ensembl Gene ENSMUSG00000059208
Gene Name heterogeneous nuclear ribonucleoprotein M
Synonyms 2610023M21Rik, Hnrpm
MMRRC Submission 068549-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8695 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 33865207-33904432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33877884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 333 (M333I)
Ref Sequence ENSEMBL: ENSMUSP00000120115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087582] [ENSMUST00000114385] [ENSMUST00000139302] [ENSMUST00000148178]
AlphaFold Q9D0E1
Predicted Effect probably benign
Transcript: ENSMUST00000087582
AA Change: M294I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: M294I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:HnRNP_M 40 69 2.7e-20 PFAM
RRM 71 144 2.35e-20 SMART
RRM 165 237 1.66e-20 SMART
low complexity region 257 274 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 350 356 N/A INTRINSIC
Blast:AAA 430 589 2e-50 BLAST
low complexity region 590 603 N/A INTRINSIC
RRM 614 685 1.51e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114385
AA Change: M333I

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208
AA Change: M333I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:HnRNP_M 40 69 1.5e-20 PFAM
RRM 71 144 2.35e-20 SMART
low complexity region 164 175 N/A INTRINSIC
low complexity region 176 193 N/A INTRINSIC
RRM 204 276 1.66e-20 SMART
low complexity region 296 313 N/A INTRINSIC
internal_repeat_2 332 432 3.9e-5 PROSPERO
internal_repeat_2 479 581 3.9e-5 PROSPERO
low complexity region 591 602 N/A INTRINSIC
low complexity region 606 616 N/A INTRINSIC
low complexity region 629 642 N/A INTRINSIC
internal_repeat_1 643 676 1.39e-5 PROSPERO
Predicted Effect
SMART Domains Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208
AA Change: M14I

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139302
AA Change: M294I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208
AA Change: M294I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:HnRNP_M 40 69 1.4e-20 PFAM
RRM 71 144 2.35e-20 SMART
RRM 165 237 1.66e-20 SMART
low complexity region 257 274 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 350 356 N/A INTRINSIC
Blast:AAA 430 589 8e-51 BLAST
low complexity region 590 603 N/A INTRINSIC
internal_repeat_1 611 635 5.49e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000148178
AA Change: M333I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: M333I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:HnRNP_M 40 69 2.2e-22 PFAM
RRM 71 144 2.35e-20 SMART
low complexity region 164 175 N/A INTRINSIC
low complexity region 176 193 N/A INTRINSIC
RRM 204 276 1.66e-20 SMART
low complexity region 296 313 N/A INTRINSIC
internal_repeat_2 332 432 6.64e-5 PROSPERO
internal_repeat_2 479 581 6.64e-5 PROSPERO
low complexity region 591 602 N/A INTRINSIC
low complexity region 606 616 N/A INTRINSIC
low complexity region 629 642 N/A INTRINSIC
RRM 653 724 1.51e-23 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000123580
Gene: ENSMUSG00000059208
AA Change: M149I

DomainStartEndE-ValueType
RRM 21 93 1.66e-20 SMART
low complexity region 113 130 N/A INTRINSIC
low complexity region 146 167 N/A INTRINSIC
low complexity region 196 202 N/A INTRINSIC
internal_repeat_1 206 227 9.85e-5 PROSPERO
internal_repeat_1 221 238 9.85e-5 PROSPERO
Meta Mutation Damage Score 0.0945 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (78/78)
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 three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524J17Rik A G 8: 86,138,870 (GRCm39) I73T probably benign Het
4930556J24Rik A G 11: 3,926,192 (GRCm39) probably benign Het
Ace A G 11: 105,875,971 (GRCm39) T1010A probably benign Het
Adam20 A T 8: 41,248,865 (GRCm39) Y325F probably benign Het
Aff4 A C 11: 53,259,509 (GRCm39) N7H probably damaging Het
Apob A T 12: 8,057,830 (GRCm39) D2104V probably damaging Het
Asap3 T C 4: 135,965,722 (GRCm39) S411P probably benign Het
Atxn1l C T 8: 110,458,462 (GRCm39) G600D probably damaging Het
Brd3 A T 2: 27,352,558 (GRCm39) M124K probably benign Het
Bsx A G 9: 40,785,484 (GRCm39) N4S probably damaging Het
Ccdc125 T C 13: 100,814,552 (GRCm39) I44T probably benign Het
Ccdc141 G A 2: 76,879,963 (GRCm39) T620I probably benign Het
Ccdc178 T A 18: 22,157,809 (GRCm39) I550F probably benign Het
Ccdc77 G T 6: 120,318,962 (GRCm39) T163N probably damaging Het
Cd55 A T 1: 130,380,273 (GRCm39) I235K probably benign Het
Cdc123 A T 2: 5,826,174 (GRCm39) M118K possibly damaging Het
Cep192 A T 18: 67,951,958 (GRCm39) K378* probably null Het
Chd7 C T 4: 8,850,812 (GRCm39) R1733C probably damaging Het
Crybg2 A T 4: 133,792,766 (GRCm39) S134C possibly damaging Het
Cyp2d26 A G 15: 82,676,907 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,299 (GRCm39) probably null Het
Dyrk2 A T 10: 118,696,922 (GRCm39) V112E probably benign Het
Eppk1 A G 15: 75,994,598 (GRCm39) L761P probably benign Het
Evpl T C 11: 116,114,489 (GRCm39) K1067R probably benign Het
Fancm C A 12: 65,171,947 (GRCm39) D1862E probably damaging Het
Fhl2 A G 1: 43,167,571 (GRCm39) V174A probably damaging Het
Gemin4 A T 11: 76,102,656 (GRCm39) C702S probably damaging Het
Ggnbp2 T A 11: 84,760,767 (GRCm39) D10V possibly damaging Het
Glul T C 1: 153,778,769 (GRCm39) V26A probably benign Het
Gml2 A G 15: 74,696,089 (GRCm39) N161S probably benign Het
Gnao1 C A 8: 94,682,795 (GRCm39) T327K probably damaging Het
Gpr179 A G 11: 97,227,124 (GRCm39) V1677A possibly damaging Het
Greb1l A T 18: 10,544,450 (GRCm39) H1348L probably benign Het
Grm8 T C 6: 28,126,030 (GRCm39) H32R probably benign Het
Hk2 T A 6: 82,716,627 (GRCm39) M302L probably benign Het
Hsd3b1 A G 3: 98,760,223 (GRCm39) I256T probably damaging Het
Irx5 G A 8: 93,087,327 (GRCm39) G420R probably damaging Het
Krt87 A G 15: 101,331,901 (GRCm39) V279A probably benign Het
Lamb2 G A 9: 108,363,365 (GRCm39) S848N probably benign Het
Lypd10 A T 7: 24,413,203 (GRCm39) H174L probably benign Het
Mc1r A T 8: 124,135,116 (GRCm39) T290S probably benign Het
Or10d4 A T 9: 39,580,376 (GRCm39) T8S probably benign Het
Or52n2c A T 7: 104,574,146 (GRCm39) V275D probably benign Het
Or52z1 A T 7: 103,436,729 (GRCm39) C252S possibly damaging Het
Or6c202 T A 10: 128,996,233 (GRCm39) T207S probably damaging Het
Pex6 T C 17: 47,022,975 (GRCm39) S184P probably damaging Het
Pglyrp3 A T 3: 91,933,762 (GRCm39) S136C probably null Het
Pik3r1 A G 13: 101,894,062 (GRCm39) S36P probably benign Het
Pomt2 G T 12: 87,156,790 (GRCm39) T782K probably benign Het
Ppfibp2 A G 7: 107,285,063 (GRCm39) probably benign Het
Prdm9 T C 17: 15,765,019 (GRCm39) H587R probably damaging Het
Prp2 A G 6: 132,576,932 (GRCm39) Q73R unknown Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Ptprj A T 2: 90,301,481 (GRCm39) I217N possibly damaging Het
Rasal3 A G 17: 32,611,736 (GRCm39) F797S possibly damaging Het
Rsrp1 T A 4: 134,652,610 (GRCm39) M188K probably damaging Het
Senp8 A G 9: 59,644,499 (GRCm39) I219T probably damaging Het
Serpinb10 A T 1: 107,468,630 (GRCm39) N91I probably damaging Het
Skint4 C T 4: 111,975,264 (GRCm39) R75C probably damaging Het
Slc25a48 C A 13: 56,612,825 (GRCm39) A241E probably damaging Het
Slc39a6 C A 18: 24,736,811 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,002,972 (GRCm39) R354H probably damaging Het
Spata21 G C 4: 140,838,755 (GRCm39) probably null Het
Sptbn2 A G 19: 4,796,724 (GRCm39) E1774G possibly damaging Het
Tep1 A T 14: 51,082,894 (GRCm39) F1038Y possibly damaging Het
Thbs2 T A 17: 14,899,963 (GRCm39) D638V probably benign Het
Tmem161a G T 8: 70,627,047 (GRCm39) C33F probably damaging Het
Trim47 T C 11: 116,000,926 (GRCm39) S41G probably benign Het
Trim56 T A 5: 137,143,429 (GRCm39) H29L probably benign Het
Ugt2b35 T A 5: 87,156,064 (GRCm39) H385Q probably damaging Het
Ugt2b37 T A 5: 87,390,243 (GRCm39) H401L probably benign Het
Usp44 A C 10: 93,682,365 (GRCm39) T272P probably damaging Het
Usp46 C T 5: 74,189,897 (GRCm39) E156K probably benign Het
Vmn1r232 T C 17: 21,134,109 (GRCm39) K164E probably benign Het
Zan T A 5: 137,385,217 (GRCm39) N5072I unknown Het
Zfp318 T C 17: 46,723,576 (GRCm39) S1860P probably benign Het
Zfp616 C T 11: 73,975,710 (GRCm39) R660W probably benign Het
Zfp870 C T 17: 33,102,679 (GRCm39) V217I possibly damaging Het
Other mutations in Hnrnpm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00869:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00870:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00886:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00898:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00900:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00901:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00905:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00907:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00908:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00911:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00912:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00920:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00921:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00922:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00923:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00924:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00926:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00927:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00928:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00929:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00930:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00931:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00932:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00935:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00938:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00945:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00950:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00952:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00953:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00954:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00955:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00956:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00957:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00958:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00959:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL00960:Hnrnpm APN 17 33,868,876 (GRCm39) missense probably damaging 0.99
IGL01301:Hnrnpm APN 17 33,888,142 (GRCm39) critical splice donor site probably null
IGL02152:Hnrnpm APN 17 33,877,386 (GRCm39) missense probably damaging 1.00
IGL02319:Hnrnpm APN 17 33,868,924 (GRCm39) missense probably damaging 0.98
IGL02487:Hnrnpm APN 17 33,867,787 (GRCm39) missense probably damaging 1.00
IGL03099:Hnrnpm APN 17 33,888,146 (GRCm39) missense probably damaging 1.00
ANU18:Hnrnpm UTSW 17 33,888,142 (GRCm39) critical splice donor site probably null
E0370:Hnrnpm UTSW 17 33,877,896 (GRCm39) splice site probably benign
R0153:Hnrnpm UTSW 17 33,865,489 (GRCm39) missense probably damaging 0.99
R0254:Hnrnpm UTSW 17 33,871,242 (GRCm39) splice site probably null
R0606:Hnrnpm UTSW 17 33,877,364 (GRCm39) missense probably damaging 0.97
R0940:Hnrnpm UTSW 17 33,868,976 (GRCm39) missense probably damaging 1.00
R1216:Hnrnpm UTSW 17 33,868,687 (GRCm39) missense probably damaging 0.99
R1392:Hnrnpm UTSW 17 33,877,389 (GRCm39) missense possibly damaging 0.62
R1392:Hnrnpm UTSW 17 33,877,389 (GRCm39) missense possibly damaging 0.62
R1454:Hnrnpm UTSW 17 33,885,462 (GRCm39) splice site probably benign
R2011:Hnrnpm UTSW 17 33,883,598 (GRCm39) missense probably damaging 1.00
R4678:Hnrnpm UTSW 17 33,869,185 (GRCm39) missense possibly damaging 0.54
R4926:Hnrnpm UTSW 17 33,868,775 (GRCm39) missense probably damaging 0.97
R7456:Hnrnpm UTSW 17 33,865,622 (GRCm39) missense possibly damaging 0.95
R9079:Hnrnpm UTSW 17 33,868,775 (GRCm39) missense probably damaging 0.97
R9626:Hnrnpm UTSW 17 33,896,264 (GRCm39) missense probably damaging 1.00
Z1177:Hnrnpm UTSW 17 33,877,375 (GRCm39) missense probably benign 0.00
Z1177:Hnrnpm UTSW 17 33,865,719 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACACCCACTAGAATGATAGGC -3'
(R):5'- GACTATGTGTAGCTTAGAAACTGC -3'

Sequencing Primer
(F):5'- GGCAAAGTAATTCTTAGACTCAGAC -3'
(R):5'- GGCATCAGATCTCATTACGGATG -3'
Posted On 2021-04-30