Incidental Mutation 'R0153:Hnrnpm'
ID 22875
Institutional Source Beutler Lab
Gene Symbol Hnrnpm
Ensembl Gene ENSMUSG00000059208
Gene Name heterogeneous nuclear ribonucleoprotein M
Synonyms 2610023M21Rik, Hnrpm
MMRRC Submission 038436-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0153 (G1)
Quality Score 204
Status Validated (trace)
Chromosome 17
Chromosomal Location 33865207-33904432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33865489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 724 (R724Q)
Ref Sequence ENSEMBL: ENSMUSP00000120115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052079] [ENSMUST00000087582] [ENSMUST00000114385] [ENSMUST00000116619] [ENSMUST00000139302] [ENSMUST00000148178]
AlphaFold Q9D0E1
Predicted Effect probably benign
Transcript: ENSMUST00000052079
SMART Domains Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739

DomainStartEndE-ValueType
internal_repeat_1 15 151 3.3e-6 PROSPERO
internal_repeat_1 237 378 3.3e-6 PROSPERO
low complexity region 393 404 N/A INTRINSIC
low complexity region 445 453 N/A INTRINSIC
low complexity region 458 471 N/A INTRINSIC
low complexity region 480 486 N/A INTRINSIC
SH3 581 655 1.09e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087582
AA Change: R685Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: R685Q

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
SMART Domains Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208

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 probably benign
Transcript: ENSMUST00000116619
Predicted Effect probably benign
Transcript: ENSMUST00000130946
SMART Domains Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139302
SMART Domains Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208

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 damaging
Transcript: ENSMUST00000148178
AA Change: R724Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: R724Q

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 noncoding transcript
Transcript: ENSMUST00000163245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166215
Predicted Effect probably benign
Transcript: ENSMUST00000148258
SMART Domains Protein: ENSMUSP00000123580
Gene: ENSMUSG00000059208

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 0.3587 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 97% (99/102)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,119 (GRCm39) M406V probably benign Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Adgre1 T A 17: 57,750,939 (GRCm39) S538T possibly damaging Het
Alms1 T A 6: 85,618,363 (GRCm39) I2803N possibly damaging Het
Amn1 G T 6: 149,090,091 (GRCm39) probably benign Het
Arid1b G A 17: 5,393,207 (GRCm39) A2246T probably damaging Het
BC024139 T C 15: 76,005,947 (GRCm39) E418G probably damaging Het
Bok A G 1: 93,614,239 (GRCm39) D24G probably damaging Het
Cabp2 T C 19: 4,134,913 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,995,582 (GRCm39) probably benign Het
Ccdc178 T C 18: 22,283,492 (GRCm39) T13A probably benign Het
Ccdc42 G T 11: 68,478,476 (GRCm39) V33F possibly damaging Het
Clcn7 G A 17: 25,368,176 (GRCm39) probably benign Het
Cluh A G 11: 74,548,176 (GRCm39) probably benign Het
Cr1l A T 1: 194,797,164 (GRCm39) probably benign Het
Cracdl A G 1: 37,663,720 (GRCm39) V726A probably benign Het
Csnk1g3 T A 18: 54,051,861 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,281 (GRCm39) probably benign Het
Dgkh A C 14: 78,807,569 (GRCm39) Y1149* probably null Het
Dipk2a G T 9: 94,406,533 (GRCm39) D291E probably benign Het
Dnai1 A G 4: 41,635,162 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,196,256 (GRCm39) V497A probably benign Het
Efcab2 A G 1: 178,302,451 (GRCm39) E65G possibly damaging Het
Eif4a3l1 A T 6: 136,305,842 (GRCm39) D101V probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fgfr4 A G 13: 55,309,198 (GRCm39) probably benign Het
Garin5b A T 7: 4,773,286 (GRCm39) L177Q probably damaging Het
Gm10720 A C 9: 3,015,787 (GRCm39) S44R probably null Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm6471 A T 7: 142,385,368 (GRCm39) noncoding transcript Het
Homer1 C T 13: 93,528,254 (GRCm39) T117I possibly damaging Het
Hoxd4 A T 2: 74,557,801 (GRCm39) Q60L probably damaging Het
Ift172 T C 5: 31,417,968 (GRCm39) R1274G probably benign Het
Ino80d A G 1: 63,097,477 (GRCm39) S806P probably damaging Het
Itga10 T C 3: 96,561,016 (GRCm39) V627A probably benign Het
Itgb2l A G 16: 96,238,569 (GRCm39) Y77H possibly damaging Het
Kel A T 6: 41,678,877 (GRCm39) H195Q probably benign Het
Klhdc7a A G 4: 139,694,582 (GRCm39) S122P possibly damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Lats1 T A 10: 7,567,339 (GRCm39) S37T probably damaging Het
Lrp1b T A 2: 41,013,031 (GRCm39) H1858L possibly damaging Het
Matk A T 10: 81,098,676 (GRCm39) T461S probably benign Het
Meikin A G 11: 54,300,468 (GRCm39) probably benign Het
Muc6 T C 7: 141,214,029 (GRCm39) Q2832R possibly damaging Het
Myo10 T C 15: 25,781,324 (GRCm39) F194L possibly damaging Het
Nbas G A 12: 13,323,877 (GRCm39) probably benign Het
Nme4 A G 17: 26,312,831 (GRCm39) probably null Het
Or13p8 A T 4: 118,583,530 (GRCm39) I29F possibly damaging Het
Or4c112 T A 2: 88,853,540 (GRCm39) N269I probably benign Het
Or5w13 A G 2: 87,523,948 (GRCm39) S93P probably benign Het
Or7g32 T A 9: 19,408,233 (GRCm39) L63H probably damaging Het
Or8g34 T C 9: 39,372,967 (GRCm39) V80A probably damaging Het
Pacsin2 T C 15: 83,261,862 (GRCm39) Q473R probably benign Het
Patz1 A G 11: 3,243,288 (GRCm39) H427R probably damaging Het
Pkp3 A G 7: 140,663,256 (GRCm39) Y367C probably damaging Het
Prdm2 G A 4: 142,860,338 (GRCm39) P984L possibly damaging Het
Rev3l T A 10: 39,750,124 (GRCm39) C3091* probably null Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpl5 T C 5: 108,052,623 (GRCm39) F140L probably benign Het
Sec24a A C 11: 51,591,653 (GRCm39) I1014M probably benign Het
Serpinb11 A G 1: 107,299,933 (GRCm39) H93R probably benign Het
Shank2 C A 7: 143,623,872 (GRCm39) H286N probably benign Het
Sipa1l2 G T 8: 126,148,637 (GRCm39) Q1651K probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc30a5 A T 13: 100,963,002 (GRCm39) F75L possibly damaging Het
Slco1a1 G T 6: 141,856,427 (GRCm39) probably benign Het
Smg5 C T 3: 88,261,179 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Taf8 A T 17: 47,809,177 (GRCm39) probably benign Het
Tars3 A G 7: 65,333,829 (GRCm39) D617G probably damaging Het
Tbc1d5 A T 17: 51,291,715 (GRCm39) probably benign Het
Tfcp2 C G 15: 100,412,708 (GRCm39) E315Q probably damaging Het
Tmf1 A T 6: 97,147,345 (GRCm39) S540R probably damaging Het
Tmprss4 T C 9: 45,095,634 (GRCm39) Q70R probably benign Het
Trip13 G T 13: 74,068,183 (GRCm39) A266E possibly damaging Het
Ttc24 T A 3: 87,982,234 (GRCm39) probably benign Het
Ttll5 T A 12: 85,878,740 (GRCm39) I49N probably damaging Het
Tut7 G A 13: 59,930,150 (GRCm39) R962* probably null Het
Ube2ql1 A T 13: 69,886,711 (GRCm39) M250K possibly damaging Het
Vmn1r87 A T 7: 12,866,211 (GRCm39) D25E probably damaging Het
Vmn2r84 A G 10: 130,227,877 (GRCm39) Y120H probably benign Het
Wdr6 G A 9: 108,452,441 (GRCm39) R481C probably damaging Het
Zdhhc17 A T 10: 110,790,955 (GRCm39) Y371* probably null Het
Zfp292 T C 4: 34,811,185 (GRCm39) N620D probably benign Het
Zfp932 T A 5: 110,154,834 (GRCm39) Y11N probably benign 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
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
R8695:Hnrnpm UTSW 17 33,877,884 (GRCm39) missense probably benign 0.00
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'- ACAATGAGGGTGAGATCCCTGGTG -3'
(R):5'- TCCAACAGGTGATCTGGACTGAGTG -3'

Sequencing Primer
(F):5'- AGGCAAGCCACTTTCAGG -3'
(R):5'- ATCTGGACTGAGTGGAGCC -3'
Posted On 2013-04-16