Incidental Mutation 'R0940:Hnrnpm'
ID 81459
Institutional Source Beutler Lab
Gene Symbol Hnrnpm
Ensembl Gene ENSMUSG00000059208
Gene Name heterogeneous nuclear ribonucleoprotein M
Synonyms 2610023M21Rik, Hnrpm
MMRRC Submission 039079-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0940 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33865207-33904432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33868976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 523 (R523C)
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: R484C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208
AA Change: R484C

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: R523C

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208
AA Change: R523C

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
AA Change: R484C

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208
AA Change: R484C

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: R523C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208
AA Change: R523C

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: ENSMUST00000166215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163245
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 0.4451 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 100% (68/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
2610021A01Rik T G 7: 41,275,858 (GRCm39) I520M probably damaging Het
Ackr4 A G 9: 103,976,831 (GRCm39) F39L probably damaging Het
Adgre5 C T 8: 84,460,126 (GRCm39) S92N probably damaging Het
Adrb2 T C 18: 62,312,762 (GRCm39) D21G probably benign Het
Akr1c6 G A 13: 4,486,372 (GRCm39) E60K probably benign Het
Bcl7c T A 7: 127,306,503 (GRCm39) N96I possibly damaging Het
Brca1 A T 11: 101,422,969 (GRCm39) S106R possibly damaging Het
C6 A T 15: 4,764,717 (GRCm39) T138S probably benign Het
Cul3 T C 1: 80,300,564 (GRCm39) probably benign Het
Dnah8 T A 17: 31,022,217 (GRCm39) M3939K probably damaging Het
Dock4 T A 12: 40,681,626 (GRCm39) probably benign Het
Dsc2 T G 18: 20,183,116 (GRCm39) T101P probably damaging Het
Dynlt1b T C 17: 6,697,649 (GRCm39) probably benign Het
E330013P04Rik A G 19: 60,150,354 (GRCm39) noncoding transcript Het
Fggy A G 4: 95,585,238 (GRCm39) E39G probably benign Het
Fhip1a A G 3: 85,572,797 (GRCm39) V952A possibly damaging Het
Fmo6 A T 1: 162,753,795 (GRCm39) C116S probably benign Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gmps A G 3: 63,883,743 (GRCm39) probably benign Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Inpp5a T C 7: 139,105,654 (GRCm39) Y202H probably damaging Het
Kank3 C T 17: 34,036,450 (GRCm39) S106F probably damaging Het
Lmcd1 A G 6: 112,305,658 (GRCm39) D253G probably benign Het
Lrrk2 A T 15: 91,613,284 (GRCm39) I803F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Mycbp2 A T 14: 103,500,129 (GRCm39) probably benign Het
Myh4 A T 11: 67,133,689 (GRCm39) N243Y probably damaging Het
Myorg A G 4: 41,497,996 (GRCm39) Y545H probably damaging Het
Nfatc1 C T 18: 80,679,110 (GRCm39) M759I probably benign Het
Nipal4 A G 11: 46,041,139 (GRCm39) I352T possibly damaging Het
Nomo1 A G 7: 45,683,329 (GRCm39) E25G possibly damaging Het
Or10j27 A G 1: 172,958,020 (GRCm39) S255P probably benign Het
Or13a19 T C 7: 139,903,065 (GRCm39) I151T probably benign Het
Or14j7 A G 17: 38,234,591 (GRCm39) I45V probably damaging Het
Or1e32 T C 11: 73,705,050 (GRCm39) N286S probably damaging Het
Or4c116 T A 2: 88,942,419 (GRCm39) I146L probably benign Het
Or5p66 T C 7: 107,886,264 (GRCm39) D23G probably benign Het
Pabpn1l A G 8: 123,349,183 (GRCm39) V78A probably benign Het
Pde6b T A 5: 108,568,203 (GRCm39) I327N possibly damaging Het
Phrf1 T C 7: 140,834,768 (GRCm39) probably benign Het
Pkm C T 9: 59,575,818 (GRCm39) probably benign Het
Plxna2 G A 1: 194,482,863 (GRCm39) V1519I probably benign Het
Ppp2cb T C 8: 34,105,689 (GRCm39) probably null Het
Prickle2 A G 6: 92,387,984 (GRCm39) Y473H probably benign Het
Prpf3 A G 3: 95,751,535 (GRCm39) W389R probably damaging Het
Psme4 G A 11: 30,765,264 (GRCm39) E544K possibly damaging Het
Relb A T 7: 19,345,767 (GRCm39) D395E probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,307,389 (GRCm39) N683S probably benign Het
Rtel1 T C 2: 180,964,596 (GRCm39) C102R probably benign Het
Sel1l3 C T 5: 53,301,379 (GRCm39) probably benign Het
Slc8a2 A G 7: 15,878,887 (GRCm39) T458A probably benign Het
Smc3 T A 19: 53,629,340 (GRCm39) M931K probably benign Het
Sorbs2 T C 8: 46,249,539 (GRCm39) V795A probably benign Het
Tgm3 A G 2: 129,854,326 (GRCm39) S2G probably benign Het
Tpbpa T C 13: 61,087,867 (GRCm39) T75A probably damaging Het
Trub1 A G 19: 57,473,495 (GRCm39) probably benign Het
Uggt2 A G 14: 119,328,604 (GRCm39) probably null Het
Ugt2a3 A G 5: 87,475,065 (GRCm39) V393A possibly damaging Het
Vav3 T A 3: 109,470,151 (GRCm39) M532K possibly damaging Het
Zfp616 A T 11: 73,975,850 (GRCm39) K706N probably damaging Het
Zkscan1 T C 5: 138,091,432 (GRCm39) F55S 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
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'- TTCGCTCAATACCAGCGCCCAATG -3'
(R):5'- TTAGGATCTGAAGTGCCCAGCCAG -3'

Sequencing Primer
(F):5'- CCATACGTTCCAGGCTGTTG -3'
(R):5'- TGGCATTGACCGCATTAGC -3'
Posted On 2013-11-07