Incidental Mutation 'IGL00844:Hnrnpr'
ID 12666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpr
Ensembl Gene ENSMUSG00000066037
Gene Name heterogeneous nuclear ribonucleoprotein R
Synonyms hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00844
Quality Score
Status
Chromosome 4
Chromosomal Location 136038253-136086758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136066516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 399 (I399M)
Ref Sequence ENSEMBL: ENSMUSP00000138399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084219] [ENSMUST00000105850] [ENSMUST00000131671] [ENSMUST00000148843]
AlphaFold Q8VHM5
Predicted Effect probably benign
Transcript: ENSMUST00000084219
AA Change: I298M

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: I298M

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: ENSMUST00000105850
AA Change: I399M

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: I399M

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: ENSMUST00000131671
AA Change: I298M

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: I298M

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: ENSMUST00000148843
AA Change: I399M

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: I399M

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 noncoding transcript
Transcript: ENSMUST00000153505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182327
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,384,956 (GRCm39) C336* probably null Het
Adgrv1 T C 13: 81,688,238 (GRCm39) D994G probably damaging Het
Arhgap36 G T X: 48,586,631 (GRCm39) Q421H probably damaging Het
Arhgef17 A G 7: 100,578,656 (GRCm39) V764A probably benign Het
Atf7ip T C 6: 136,537,679 (GRCm39) V304A probably benign Het
Babam2 T A 5: 32,164,651 (GRCm39) F299L probably damaging Het
Ceacam11 T G 7: 17,707,595 (GRCm39) D126E possibly damaging Het
Dlg3 C A X: 99,850,199 (GRCm39) H197Q probably damaging Het
Dnmt3a T A 12: 3,955,622 (GRCm39) L590Q probably damaging Het
Fras1 A G 5: 96,682,712 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,515,598 (GRCm39) F79L probably benign Het
Gabbr2 A G 4: 46,875,711 (GRCm39) V137A probably damaging Het
Gphn T C 12: 78,711,342 (GRCm39) probably benign Het
Madd A C 2: 90,998,213 (GRCm39) S636A probably damaging Het
Pi15 T C 1: 17,691,764 (GRCm39) probably benign Het
Ppp3cb A T 14: 20,581,754 (GRCm39) M87K possibly damaging Het
Ptpro C A 6: 137,391,237 (GRCm39) H786N probably damaging Het
Rnase11 T C 14: 51,287,213 (GRCm39) I114V possibly damaging Het
Sirt4 A G 5: 115,617,685 (GRCm39) probably null Het
Stab1 T C 14: 30,869,023 (GRCm39) D1534G probably damaging Het
Sulf2 A G 2: 165,936,412 (GRCm39) S185P possibly damaging Het
Svs6 A C 2: 164,159,507 (GRCm39) K90T possibly damaging Het
Tdrd6 A G 17: 43,928,087 (GRCm39) M2102T probably benign Het
Ttll5 T C 12: 85,890,600 (GRCm39) V77A probably damaging Het
Usp9x T G X: 12,994,685 (GRCm39) S959A probably benign Het
Vps50 C T 6: 3,532,177 (GRCm39) Q227* probably null Het
Zfp57 C A 17: 37,320,514 (GRCm39) Q120K possibly damaging Het
Zswim2 T C 2: 83,754,115 (GRCm39) N182D probably benign Het
Other mutations in Hnrnpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Hnrnpr APN 4 136,066,856 (GRCm39) missense unknown
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
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
Posted On 2012-12-06