Incidental Mutation 'IGL02141:Hnrnpll'
ID 281541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpll
Ensembl Gene ENSMUSG00000024095
Gene Name heterogeneous nuclear ribonucleoprotein L-like
Synonyms Hnrpll, 2510028H02Rik, 2810036L13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # IGL02141
Quality Score
Status
Chromosome 17
Chromosomal Location 80336916-80369697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80358142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 203 (T203I)
Ref Sequence ENSEMBL: ENSMUSP00000139372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061331] [ENSMUST00000184297] [ENSMUST00000184635]
AlphaFold Q921F4
Predicted Effect probably benign
Transcript: ENSMUST00000061331
AA Change: T203I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: T203I

DomainStartEndE-ValueType
low complexity region 52 104 N/A INTRINSIC
RRM 126 195 2.99e-4 SMART
RRM 216 289 1.26e-2 SMART
low complexity region 314 325 N/A INTRINSIC
RRM 385 454 1.36e-7 SMART
Blast:RRM_2 504 582 3e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184297
AA Change: T203I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139075
Gene: ENSMUSG00000024095
AA Change: T203I

DomainStartEndE-ValueType
low complexity region 52 104 N/A INTRINSIC
RRM 126 195 2.99e-4 SMART
RRM 216 289 1.26e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184578
Predicted Effect probably benign
Transcript: ENSMUST00000184635
AA Change: T203I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: T203I

DomainStartEndE-ValueType
low complexity region 52 104 N/A INTRINSIC
RRM 126 195 2.99e-4 SMART
RRM 216 289 1.26e-2 SMART
low complexity region 314 325 N/A INTRINSIC
RRM 385 454 1.36e-7 SMART
Blast:RRM_2 504 582 3e-32 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184889
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a point mutation in a RNA recognition motif of the gene product have defects in the generation of alternative transcripts normally found in memory T cells. Total CD4+ T cell counts are lower, with a reduction of na�ve CD44lo T cells occurring as mice age. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Gene trapped(5) Chemically induced(1)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging Het
Other mutations in Hnrnpll
AlleleSourceChrCoordTypePredicted EffectPPH Score
thunder APN 17 80,361,000 (GRCm39) missense probably damaging 1.00
IGL01989:Hnrnpll APN 17 80,346,169 (GRCm39) missense probably benign 0.15
IGL02093:Hnrnpll APN 17 80,351,933 (GRCm39) missense probably benign 0.00
IGL02749:Hnrnpll APN 17 80,369,420 (GRCm39) start codon destroyed probably null
IGL03213:Hnrnpll APN 17 80,341,527 (GRCm39) missense probably damaging 1.00
Grell UTSW 17 80,341,534 (GRCm39) missense probably damaging 1.00
Lindsley UTSW 17 80,357,276 (GRCm39) missense probably damaging 1.00
R0477:Hnrnpll UTSW 17 80,369,261 (GRCm39) missense unknown
R1599:Hnrnpll UTSW 17 80,361,054 (GRCm39) missense unknown
R1700:Hnrnpll UTSW 17 80,341,534 (GRCm39) missense probably benign 0.18
R1838:Hnrnpll UTSW 17 80,346,052 (GRCm39) missense probably damaging 1.00
R1907:Hnrnpll UTSW 17 80,342,758 (GRCm39) critical splice donor site probably null
R1978:Hnrnpll UTSW 17 80,351,947 (GRCm39) missense probably benign 0.01
R2079:Hnrnpll UTSW 17 80,342,806 (GRCm39) missense probably benign 0.01
R4061:Hnrnpll UTSW 17 80,340,201 (GRCm39) missense probably benign 0.01
R4062:Hnrnpll UTSW 17 80,340,201 (GRCm39) missense probably benign 0.01
R4064:Hnrnpll UTSW 17 80,340,201 (GRCm39) missense probably benign 0.01
R4226:Hnrnpll UTSW 17 80,357,234 (GRCm39) critical splice donor site probably null
R4625:Hnrnpll UTSW 17 80,358,291 (GRCm39) nonsense probably null
R5175:Hnrnpll UTSW 17 80,341,499 (GRCm39) missense possibly damaging 0.83
R5232:Hnrnpll UTSW 17 80,346,107 (GRCm39) missense probably damaging 1.00
R5620:Hnrnpll UTSW 17 80,346,051 (GRCm39) missense probably damaging 1.00
R5978:Hnrnpll UTSW 17 80,341,620 (GRCm39) missense probably damaging 1.00
R6183:Hnrnpll UTSW 17 80,357,305 (GRCm39) missense possibly damaging 0.46
R6374:Hnrnpll UTSW 17 80,357,303 (GRCm39) missense possibly damaging 0.51
R7120:Hnrnpll UTSW 17 80,341,486 (GRCm39) missense probably benign 0.01
R7429:Hnrnpll UTSW 17 80,357,276 (GRCm39) missense probably damaging 1.00
R7430:Hnrnpll UTSW 17 80,357,276 (GRCm39) missense probably damaging 1.00
R7576:Hnrnpll UTSW 17 80,351,943 (GRCm39) missense possibly damaging 0.91
R8001:Hnrnpll UTSW 17 80,346,152 (GRCm39) nonsense probably null
R8010:Hnrnpll UTSW 17 80,369,385 (GRCm39) missense unknown
R8060:Hnrnpll UTSW 17 80,341,534 (GRCm39) missense probably damaging 1.00
R8068:Hnrnpll UTSW 17 80,358,281 (GRCm39) missense possibly damaging 0.80
R8381:Hnrnpll UTSW 17 80,337,920 (GRCm39) missense probably damaging 1.00
R9378:Hnrnpll UTSW 17 80,369,291 (GRCm39) missense unknown
R9488:Hnrnpll UTSW 17 80,369,385 (GRCm39) missense unknown
Z1177:Hnrnpll UTSW 17 80,356,039 (GRCm39) missense probably benign
Posted On 2015-04-16