Incidental Mutation 'R7254:Hnrnpr'
ID 564127
Institutional Source Beutler Lab
Gene Symbol Hnrnpr
Ensembl Gene ENSMUSG00000066037
Gene Name heterogeneous nuclear ribonucleoprotein R
Synonyms hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik
MMRRC Submission 045315-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7254 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136038253-136086758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136059886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 330 (E330G)
Ref Sequence ENSEMBL: ENSMUSP00000101476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084219] [ENSMUST00000105850] [ENSMUST00000131671] [ENSMUST00000134524] [ENSMUST00000145282] [ENSMUST00000148843]
AlphaFold Q8VHM5
Predicted Effect possibly damaging
Transcript: ENSMUST00000084219
AA Change: E229G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: E229G

DomainStartEndE-ValueType
RRM 166 240 1.27e-16 SMART
RRM 247 324 9.42e-11 SMART
RRM 342 407 3.76e-19 SMART
low complexity region 419 428 N/A INTRINSIC
low complexity region 433 496 N/A INTRINSIC
low complexity region 499 527 N/A INTRINSIC
low complexity region 531 574 N/A INTRINSIC
low complexity region 604 620 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105850
AA Change: E330G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: E330G

DomainStartEndE-ValueType
RRM 166 240 1.27e-16 SMART
RRM 247 324 9.42e-11 SMART
RRM 342 407 3.76e-19 SMART
low complexity region 419 428 N/A INTRINSIC
low complexity region 433 496 N/A INTRINSIC
low complexity region 499 527 N/A INTRINSIC
low complexity region 531 574 N/A INTRINSIC
low complexity region 604 620 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131671
AA Change: E229G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: E229G

DomainStartEndE-ValueType
RRM 65 139 1.27e-16 SMART
RRM 146 223 9.42e-11 SMART
RRM 241 306 3.76e-19 SMART
low complexity region 318 327 N/A INTRINSIC
low complexity region 332 395 N/A INTRINSIC
low complexity region 398 426 N/A INTRINSIC
low complexity region 430 473 N/A INTRINSIC
low complexity region 503 519 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134524
SMART Domains Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037

DomainStartEndE-ValueType
RRM 166 240 1.27e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145282
Predicted Effect possibly damaging
Transcript: ENSMUST00000148843
AA Change: E330G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: E330G

DomainStartEndE-ValueType
RRM 166 240 1.27e-16 SMART
RRM 247 324 9.42e-11 SMART
RRM 342 407 3.76e-19 SMART
low complexity region 419 428 N/A INTRINSIC
low complexity region 433 496 N/A INTRINSIC
low complexity region 499 527 N/A INTRINSIC
low complexity region 531 574 N/A INTRINSIC
low complexity region 604 620 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A T 7: 43,147,623 (GRCm39) D249E probably damaging Het
Acacb A C 5: 114,347,812 (GRCm39) probably null Het
Adnp A G 2: 168,025,918 (GRCm39) V459A probably damaging Het
Arid3b T C 9: 57,704,037 (GRCm39) K304E probably damaging Het
Ash1l G T 3: 88,977,816 (GRCm39) R2713L probably damaging Het
Bmpr1a A C 14: 34,136,720 (GRCm39) D490E probably benign Het
Cacna1g A T 11: 94,323,393 (GRCm39) C1270* probably null Het
Cep295nl G T 11: 118,223,866 (GRCm39) P326Q probably damaging Het
Cfap100 T C 6: 90,383,043 (GRCm39) I377V unknown Het
Creb1 C T 1: 64,615,436 (GRCm39) Q223* probably null Het
Ctsc G A 7: 87,958,767 (GRCm39) G349D probably damaging Het
Ddx41 G A 13: 55,681,769 (GRCm39) R311* probably null Het
Dpcd A G 19: 45,565,473 (GRCm39) Q149R probably benign Het
Dse T A 10: 34,060,144 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,226,205 (GRCm39) probably benign Het
Eef2k C T 7: 120,488,488 (GRCm39) H458Y probably benign Het
Gipr A T 7: 18,897,538 (GRCm39) V90E probably damaging Het
Gm14412 A T 2: 177,009,189 (GRCm39) D22E probably damaging Het
Gm21886 A T 18: 80,132,950 (GRCm39) C69* probably null Het
Gm5114 G A 7: 39,058,390 (GRCm39) L410F probably benign Het
Gmip T A 8: 70,269,118 (GRCm39) probably null Het
Gtf2f1 T C 17: 57,314,101 (GRCm39) T128A possibly damaging Het
Hoxd9 T A 2: 74,528,718 (GRCm39) W107R probably damaging Het
Iars1 T C 13: 49,876,554 (GRCm39) probably null Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Ifi213 G T 1: 173,421,529 (GRCm39) P120Q probably damaging Het
Il6 A T 5: 30,219,906 (GRCm39) Q94L probably benign Het
Kcnab1 A G 3: 65,226,908 (GRCm39) S196G probably benign Het
Kcnv1 C T 15: 44,976,604 (GRCm39) V228I probably benign Het
Lars2 A G 9: 123,284,028 (GRCm39) T739A possibly damaging Het
Med13 T C 11: 86,210,661 (GRCm39) S494G probably benign Het
Mtrf1 GCCTTC GC 14: 79,660,931 (GRCm39) probably null Het
Myh9 T G 15: 77,650,024 (GRCm39) Q1646P probably damaging Het
Nif3l1 T A 1: 58,489,625 (GRCm39) S171R probably benign Het
Or13n4 A G 7: 106,422,777 (GRCm39) *319Q probably null Het
Or1e1c A G 11: 73,266,201 (GRCm39) I212V probably benign Het
Or1r1 A G 11: 73,874,603 (GRCm39) V277A probably benign Het
Or51f23 A G 7: 102,452,765 (GRCm39) T27A probably benign Het
Or5b113 A T 19: 13,342,475 (GRCm39) D161V probably benign Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8c8 T C 9: 38,164,719 (GRCm39) M2T probably benign Het
Pak5 A T 2: 135,958,684 (GRCm39) S135T possibly damaging Het
Prr29 A T 11: 106,265,684 (GRCm39) M1L probably damaging Het
Ptpn13 T A 5: 103,742,502 (GRCm39) V2407E probably damaging Het
Ralgapa1 T A 12: 55,741,978 (GRCm39) H1310L probably damaging Het
Raph1 T C 1: 60,538,767 (GRCm39) S393G unknown Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Ror2 A G 13: 53,272,756 (GRCm39) I303T possibly damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn10a C T 9: 119,447,921 (GRCm39) D1378N probably damaging Het
Serpinc1 T A 1: 160,821,188 (GRCm39) C91S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31d1e T C 13: 59,889,790 (GRCm39) I677V probably benign Het
Tada1 T A 1: 166,216,217 (GRCm39) C139* probably null Het
Tbr1 T A 2: 61,636,386 (GRCm39) V254E probably damaging Het
Timd4 A T 11: 46,734,016 (GRCm39) I340F probably benign Het
Tubb2a T C 13: 34,258,515 (GRCm39) Y425C probably damaging Het
Zfp292 A T 4: 34,819,476 (GRCm39) M287K probably damaging Het
Other mutations in Hnrnpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Hnrnpr APN 4 136,066,856 (GRCm39) missense unknown
IGL00844:Hnrnpr APN 4 136,066,516 (GRCm39) missense probably benign 0.17
IGL01374:Hnrnpr APN 4 136,054,729 (GRCm39) splice site probably benign
IGL01704:Hnrnpr APN 4 136,056,692 (GRCm39) missense possibly damaging 0.89
IGL01825:Hnrnpr APN 4 136,066,850 (GRCm39) nonsense probably null
IGL01843:Hnrnpr APN 4 136,066,724 (GRCm39) splice site probably benign
IGL01871:Hnrnpr APN 4 136,066,885 (GRCm39) missense unknown
IGL02376:Hnrnpr APN 4 136,046,766 (GRCm39) missense probably damaging 1.00
IGL02557:Hnrnpr APN 4 136,046,817 (GRCm39) missense probably damaging 1.00
IGL02947:Hnrnpr APN 4 136,043,690 (GRCm39) missense probably damaging 1.00
PIT4677001:Hnrnpr UTSW 4 136,056,750 (GRCm39) missense probably damaging 1.00
R0142:Hnrnpr UTSW 4 136,054,593 (GRCm39) missense probably damaging 1.00
R0219:Hnrnpr UTSW 4 136,066,474 (GRCm39) splice site probably benign
R1459:Hnrnpr UTSW 4 136,056,755 (GRCm39) missense probably damaging 1.00
R1917:Hnrnpr UTSW 4 136,059,799 (GRCm39) nonsense probably null
R2007:Hnrnpr UTSW 4 136,046,824 (GRCm39) unclassified probably benign
R2364:Hnrnpr UTSW 4 136,054,640 (GRCm39) missense possibly damaging 0.69
R3788:Hnrnpr UTSW 4 136,063,624 (GRCm39) missense probably damaging 1.00
R4066:Hnrnpr UTSW 4 136,066,657 (GRCm39) intron probably benign
R4232:Hnrnpr UTSW 4 136,066,500 (GRCm39) missense probably benign 0.15
R4433:Hnrnpr UTSW 4 136,044,459 (GRCm39) missense probably benign 0.04
R4664:Hnrnpr UTSW 4 136,044,486 (GRCm39) unclassified probably benign
R4990:Hnrnpr UTSW 4 136,063,609 (GRCm39) missense probably damaging 1.00
R4990:Hnrnpr UTSW 4 136,056,690 (GRCm39) missense probably damaging 1.00
R5058:Hnrnpr UTSW 4 136,063,648 (GRCm39) missense possibly damaging 0.89
R5328:Hnrnpr UTSW 4 136,066,527 (GRCm39) missense probably benign 0.01
R5469:Hnrnpr UTSW 4 136,046,745 (GRCm39) missense probably damaging 1.00
R5641:Hnrnpr UTSW 4 136,059,798 (GRCm39) missense probably damaging 0.97
R7067:Hnrnpr UTSW 4 136,054,704 (GRCm39) missense probably damaging 1.00
R7250:Hnrnpr UTSW 4 136,059,746 (GRCm39) missense probably benign 0.45
R8213:Hnrnpr UTSW 4 136,044,486 (GRCm39) unclassified probably benign
R8942:Hnrnpr UTSW 4 136,059,791 (GRCm39) missense possibly damaging 0.95
R9008:Hnrnpr UTSW 4 136,056,737 (GRCm39) missense probably damaging 0.97
R9502:Hnrnpr UTSW 4 136,056,681 (GRCm39) missense probably damaging 0.99
R9515:Hnrnpr UTSW 4 136,063,615 (GRCm39) missense probably damaging 1.00
R9516:Hnrnpr UTSW 4 136,063,615 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACAGAGGGTTTGGTGGAC -3'
(R):5'- GTCCTAACATCAAATAAATGCTCGG -3'

Sequencing Primer
(F):5'- GGTGGACGTTATTCTCTATCATCAAC -3'
(R):5'- AAATGCTCGGTGTGTATGAAAC -3'
Posted On 2019-06-26