Incidental Mutation 'R7456:Hnrnpm'
ID 578168
Institutional Source Beutler Lab
Gene Symbol Hnrnpm
Ensembl Gene ENSMUSG00000059208
Gene Name heterogeneous nuclear ribonucleoprotein M
Synonyms 2610023M21Rik, Hnrpm
MMRRC Submission 045530-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 33865207-33904432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33865622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 680 (Y680N)
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: Y641N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: Y641N

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 possibly damaging
Transcript: ENSMUST00000148178
AA Change: Y680N

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: Y680N

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 A G 4: 86,792,748 (GRCm39) D8G possibly damaging Het
Angpt4 T C 2: 151,780,987 (GRCm39) Y412H probably damaging Het
Ankef1 A G 2: 136,387,734 (GRCm39) D217G probably benign Het
Ano2 A T 6: 125,940,508 (GRCm39) I544F probably benign Het
App G A 16: 84,970,448 (GRCm39) Het
Arhgef26 A G 3: 62,247,476 (GRCm39) T187A probably benign Het
Axin1 T A 17: 26,362,139 (GRCm39) V161E probably damaging Het
Bbs7 A T 3: 36,648,527 (GRCm39) V407D probably damaging Het
C1qtnf3 A T 15: 10,972,137 (GRCm39) E141V probably benign Het
C2 A G 17: 35,083,558 (GRCm39) I469T probably damaging Het
Cc2d1a A G 8: 84,866,868 (GRCm39) probably null Het
Cd226 A T 18: 89,224,747 (GRCm39) I10F probably damaging Het
Cep295nl T C 11: 118,224,376 (GRCm39) K156R possibly damaging Het
Cfap20dc A T 14: 8,442,933 (GRCm38) L612* probably null Het
Cfap44 A G 16: 44,252,305 (GRCm39) T805A probably benign Het
Chd9 G T 8: 91,659,153 (GRCm39) E38* probably null Het
Cldnd2 C T 7: 43,091,109 (GRCm39) L14F not run Het
Cyp11b2 T C 15: 74,725,379 (GRCm39) T247A probably benign Het
Dennd11 T G 6: 40,383,774 (GRCm39) M423L probably benign Het
Dsc1 T C 18: 20,219,879 (GRCm39) S764G probably benign Het
Dsg3 A T 18: 20,664,420 (GRCm39) T473S probably benign Het
Fam193a A T 5: 34,578,132 (GRCm39) I209F possibly damaging Het
Foxs1 T C 2: 152,775,045 (GRCm39) K3E probably benign Het
Gabrr3 C T 16: 59,227,853 (GRCm39) Q37* probably null Het
Gcm2 A T 13: 41,256,751 (GRCm39) W333R probably benign Het
Gcn1 C T 5: 115,743,005 (GRCm39) Q1559* probably null Het
Gfm2 A T 13: 97,282,211 (GRCm39) K69* probably null Het
Gm14295 T G 2: 176,500,943 (GRCm39) C144W possibly damaging Het
Gm32742 G A 9: 51,071,270 (GRCm39) T5I probably damaging Het
Gm5093 T C 17: 46,750,679 (GRCm39) D116G probably damaging Het
Gsn A T 2: 35,172,718 (GRCm39) K3N possibly damaging Het
H2-M2 C T 17: 37,792,552 (GRCm39) D240N possibly damaging Het
Habp2 G C 19: 56,307,957 (GRCm39) G482R probably damaging Het
Hrc T A 7: 44,986,320 (GRCm39) D490E possibly damaging Het
Impg2 A G 16: 56,080,276 (GRCm39) I693M probably benign Het
Itga7 A G 10: 128,777,805 (GRCm39) Y262C probably damaging Het
Kif1c A G 11: 70,619,424 (GRCm39) T1020A probably benign Het
Kif23 T C 9: 61,844,402 (GRCm39) I139V probably benign Het
Klk1b5 A G 7: 43,500,255 (GRCm39) E281G probably benign Het
Kpna4 A G 3: 69,000,181 (GRCm39) V275A probably damaging Het
Lamb2 C A 9: 108,362,979 (GRCm39) D787E possibly damaging Het
Ldlrad3 A C 2: 101,785,270 (GRCm39) V235G probably damaging Het
Maneal A G 4: 124,750,767 (GRCm39) S330P probably damaging Het
Maz G A 7: 126,625,489 (GRCm39) Q35* probably null Het
Mthfd1l C T 10: 4,039,998 (GRCm39) T803M probably damaging Het
Muc5ac A G 7: 141,346,904 (GRCm39) Q325R probably benign Het
Myo3a C A 2: 22,412,255 (GRCm39) A758E probably benign Het
Ndufb7 A G 8: 84,293,482 (GRCm39) D12G probably benign Het
Nsun2 T A 13: 69,781,725 (GRCm39) C677S probably damaging Het
Obscn A G 11: 58,899,384 (GRCm39) F6471S probably benign Het
Or4c106 A T 2: 88,682,563 (GRCm39) I90F probably damaging Het
Or51k1 A G 7: 103,661,045 (GRCm39) V288A possibly damaging Het
Or7g32 T C 9: 19,408,844 (GRCm39) S267P probably damaging Het
Otof T C 5: 30,552,005 (GRCm39) D313G probably damaging Het
Paqr5 T C 9: 61,880,072 (GRCm39) D74G probably benign Het
Pigq A G 17: 26,153,580 (GRCm39) V365A unknown Het
Podn A T 4: 107,875,002 (GRCm39) N588K probably benign Het
Polr3b G A 10: 84,458,355 (GRCm39) G9R probably benign Het
Proser1 A G 3: 53,385,939 (GRCm39) H607R probably damaging Het
Ryr2 C T 13: 11,767,168 (GRCm39) V1241I probably benign Het
Sar1b G A 11: 51,682,181 (GRCm39) A170T probably benign Het
Slc22a17 T C 14: 55,149,716 (GRCm39) T191A probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,779 (GRCm39) unknown Het
Slco6d1 A T 1: 98,349,082 (GRCm39) D51V possibly damaging Het
Snx16 G A 3: 10,500,541 (GRCm39) R143* probably null Het
Sytl2 T A 7: 89,998,055 (GRCm39) L19Q probably damaging Het
Tmcc3 A G 10: 94,418,174 (GRCm39) E345G possibly damaging Het
Ttn C T 2: 76,555,998 (GRCm39) A30336T probably damaging Het
Vmn1r44 A G 6: 89,870,401 (GRCm39) D49G probably benign Het
Vps35l C T 7: 118,403,340 (GRCm39) P628S probably benign Het
Vps41 T A 13: 19,048,204 (GRCm39) D801E probably benign Het
Wif1 G A 10: 120,932,554 (GRCm39) E311K probably benign Het
Zfp513 G T 5: 31,357,759 (GRCm39) R207S possibly damaging Het
Zfp52 C A 17: 21,781,615 (GRCm39) H488N probably damaging Het
Zfp738 A G 13: 67,817,619 (GRCm39) Y791H probably 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
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'- CAAATTCAGAGGTCTGGTATTGATG -3'
(R):5'- TTGTCATGCTTGGAGAACAATGG -3'

Sequencing Primer
(F):5'- CATGCCATTCATCATCCG -3'
(R):5'- TCATGCTTGGAGAACAATGGCAATG -3'
Posted On 2019-10-07