Incidental Mutation 'R9008:Hnrnpr'
ID 685421
Institutional Source Beutler Lab
Gene Symbol Hnrnpr
Ensembl Gene ENSMUSG00000066037
Gene Name heterogeneous nuclear ribonucleoprotein R
Synonyms hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik
MMRRC Submission 068838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9008 (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 T at 136056737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 246 (N246Y)
Ref Sequence ENSEMBL: ENSMUSP00000101476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084219] [ENSMUST00000105850] [ENSMUST00000125696] [ENSMUST00000131671] [ENSMUST00000134524] [ENSMUST00000145282] [ENSMUST00000148843]
AlphaFold Q8VHM5
Predicted Effect probably damaging
Transcript: ENSMUST00000084219
AA Change: N145Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: N145Y

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 probably damaging
Transcript: ENSMUST00000105850
AA Change: N246Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: N246Y

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 probably benign
Transcript: ENSMUST00000125696
Predicted Effect probably damaging
Transcript: ENSMUST00000131671
AA Change: N145Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: N145Y

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 damaging
Transcript: ENSMUST00000134524
AA Change: N246Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: N246Y

DomainStartEndE-ValueType
RRM 166 240 1.27e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145282
Predicted Effect probably damaging
Transcript: ENSMUST00000148843
AA Change: N246Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: N246Y

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
Meta Mutation Damage Score 0.1483 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (78/80)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,849,162 (GRCm39) S536R probably damaging Het
Acacb G A 5: 114,386,815 (GRCm39) silent Het
Acsm1 T C 7: 119,258,325 (GRCm39) Y473H probably benign Het
Adam30 T A 3: 98,070,034 (GRCm39) C622* probably null Het
Adprs C T 4: 126,210,632 (GRCm39) V283M probably damaging Het
AI606181 G T 19: 41,582,032 (GRCm39) R67S unknown Het
Btbd3 A G 2: 138,125,453 (GRCm39) I212M probably benign Het
C1s1 C T 6: 124,509,499 (GRCm39) probably null Het
C7 T A 15: 5,040,409 (GRCm39) T539S Het
Cd5l A C 3: 87,275,972 (GRCm39) D314A probably damaging Het
Celsr3 T A 9: 108,706,151 (GRCm39) V878E possibly damaging Het
Cfap74 T C 4: 155,503,121 (GRCm39) S38P Het
Chst2 C T 9: 95,288,347 (GRCm39) probably benign Het
Deaf1 T C 7: 140,904,078 (GRCm39) T103A probably damaging Het
Deup1 T A 9: 15,511,140 (GRCm39) D213V probably damaging Het
Dhrs1 A G 14: 55,978,638 (GRCm39) probably null Het
Dnah7a A G 1: 53,701,501 (GRCm39) V218A possibly damaging Het
Dock7 G A 4: 98,833,448 (GRCm39) Q1950* probably null Het
Ehf G A 2: 103,097,173 (GRCm39) R283W Het
Elovl3 A T 19: 46,123,087 (GRCm39) N221I possibly damaging Het
Gm11938 A T 11: 99,493,966 (GRCm39) V43E probably damaging Het
Hmcn1 T C 1: 150,630,795 (GRCm39) probably benign Het
Hnf4g A G 3: 3,708,096 (GRCm39) N115S probably benign Het
Itpka A G 2: 119,579,894 (GRCm39) E211G probably damaging Het
Krt78 TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA 15: 101,855,211 (GRCm39) probably benign Het
Lcorl A T 5: 45,931,516 (GRCm39) probably benign Het
Lypd9 T A 11: 58,338,209 (GRCm39) E61V probably benign Het
Mgat5 T C 1: 127,407,308 (GRCm39) I658T probably damaging Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mov10 A G 3: 104,707,332 (GRCm39) Y606H probably benign Het
Naa38 T G 11: 69,287,148 (GRCm39) V76G probably damaging Het
Nelfe C A 17: 35,073,334 (GRCm39) P290T possibly damaging Het
Nfil3 A T 13: 53,121,609 (GRCm39) Y432N probably damaging Het
Nipbl T C 15: 8,356,608 (GRCm39) K1593E probably damaging Het
Nlrc3 G C 16: 3,776,807 (GRCm39) L56V possibly damaging Het
Nlrp1a A T 11: 71,014,735 (GRCm39) F172I possibly damaging Het
Ntn4 T A 10: 93,569,466 (GRCm39) probably benign Het
Nudt2 G A 4: 41,480,288 (GRCm39) R57Q probably damaging Het
Obsl1 A C 1: 75,482,027 (GRCm39) L281W probably benign Het
Olfm4 A T 14: 80,255,607 (GRCm39) N250I unknown Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or2m13 T A 16: 19,226,173 (GRCm39) I198F probably benign Het
Or2r2 T C 6: 42,463,903 (GRCm39) S75G probably damaging Het
Or5p50 A G 7: 107,422,628 (GRCm39) I16T possibly damaging Het
Pappa A T 4: 65,074,426 (GRCm39) T327S probably damaging Het
Pcdhb4 T G 18: 37,440,714 (GRCm39) M8R probably benign Het
Phf21b T A 15: 84,671,563 (GRCm39) I444F probably damaging Het
Pkd1l2 A C 8: 117,769,037 (GRCm39) V1205G probably benign Het
Plec T C 15: 76,060,232 (GRCm39) Y3235C probably damaging Het
Pnmt C T 11: 98,278,832 (GRCm39) T266I possibly damaging Het
Ppfia2 T A 10: 106,655,220 (GRCm39) D262E probably benign Het
Rabggta A T 14: 55,955,913 (GRCm39) L448Q probably damaging Het
Rap1gds1 C T 3: 138,661,177 (GRCm39) R449H probably benign Het
Rictor T A 15: 6,801,610 (GRCm39) probably benign Het
Rttn T C 18: 89,027,556 (GRCm39) F557S probably damaging Het
Ryr3 A G 2: 112,465,748 (GRCm39) C4809R probably damaging Het
Sacs A C 14: 61,441,992 (GRCm39) D1346A probably benign Het
Slain1 T A 14: 103,923,191 (GRCm39) S261T probably damaging Het
Slc22a4 C T 11: 53,881,664 (GRCm39) W351* probably null Het
Smpd3 C T 8: 106,984,058 (GRCm39) G554S probably benign Het
Spag17 C T 3: 99,934,942 (GRCm39) S716F possibly damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Spg11 C T 2: 121,900,413 (GRCm39) M1546I probably benign Het
Spmip11 T G 15: 98,486,493 (GRCm39) S88A possibly damaging Het
Stac3 C T 10: 127,339,454 (GRCm39) L117F probably damaging Het
Surf6 A G 2: 26,782,536 (GRCm39) W264R probably damaging Het
Taar7e T C 10: 23,913,810 (GRCm39) V100A probably damaging Het
Tenm3 T C 8: 48,795,688 (GRCm39) H534R probably damaging Het
Tinagl1 C A 4: 130,067,823 (GRCm39) R57L probably damaging Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Traf6 A G 2: 101,527,333 (GRCm39) Y361C possibly damaging Het
Ttn A T 2: 76,777,334 (GRCm39) probably benign Het
Ufl1 A T 4: 25,254,778 (GRCm39) Y559* probably null Het
Upk1b A T 16: 38,607,570 (GRCm39) N52K probably damaging Het
Uqcrb A G 13: 67,053,363 (GRCm39) S5P probably benign Het
Use1 A G 8: 71,819,688 (GRCm39) Y3C unknown Het
Usp9y T A Y: 1,434,993 (GRCm39) I279L possibly damaging Het
Vmn1r142 A G 7: 21,862,796 (GRCm39) L222P probably damaging Het
Vmn1r184 A C 7: 25,967,177 (GRCm39) N308H probably benign Het
Vmn2r14 C A 5: 109,367,893 (GRCm39) M366I probably benign Het
Vmn2r73 G T 7: 85,521,904 (GRCm39) S145Y probably damaging Het
Wdfy1 A T 1: 79,692,697 (GRCm39) W207R probably damaging Het
Zbtb38 A T 9: 96,569,100 (GRCm39) N661K probably benign Het
Zkscan3 G T 13: 21,572,383 (GRCm39) H416Q possibly 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
R7254:Hnrnpr UTSW 4 136,059,886 (GRCm39) missense possibly damaging 0.92
R8213:Hnrnpr UTSW 4 136,044,486 (GRCm39) unclassified probably benign
R8942:Hnrnpr UTSW 4 136,059,791 (GRCm39) missense possibly damaging 0.95
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'- TTCAGCAAGTGTGAGGGAGC -3'
(R):5'- AAGCTTCCACTTGAGAGCTAG -3'

Sequencing Primer
(F):5'- CAAGTGTGAGGGAGCTTGGTG -3'
(R):5'- GCAACTGATACATAGGAAACTTGAAC -3'
Posted On 2021-10-11