Incidental Mutation 'R1617:Hnrnpa2b1'
ID 174353
Institutional Source Beutler Lab
Gene Symbol Hnrnpa2b1
Ensembl Gene ENSMUSG00000004980
Gene Name heterogeneous nuclear ribonucleoprotein A2/B1
Synonyms 9130414A06Rik, Hnrpa2, Hnrpa2b1
MMRRC Submission 039654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1617 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 51437912-51446874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51443378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 161 (K161R)
Ref Sequence ENSEMBL: ENSMUSP00000145374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031862] [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000094623] [ENSMUST00000114445] [ENSMUST00000114446] [ENSMUST00000114459] [ENSMUST00000203220] [ENSMUST00000203954] [ENSMUST00000204158] [ENSMUST00000204188] [ENSMUST00000141711]
AlphaFold O88569
Predicted Effect probably benign
Transcript: ENSMUST00000031862
SMART Domains Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 113 N/A INTRINSIC
ChSh 115 177 6.46e-34 SMART
CHROMO 120 172 5.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069949
AA Change: K161R

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
AA Change: K161R

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
Pfam:HnRNPA1 245 282 5.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000090002
AA Change: K161R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
AA Change: K161R

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
low complexity region 186 295 N/A INTRINSIC
low complexity region 310 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094623
SMART Domains Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 113 N/A INTRINSIC
ChSh 115 177 6.46e-34 SMART
CHROMO 120 172 5.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114445
SMART Domains Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836

DomainStartEndE-ValueType
Pfam:Chromo 30 60 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114446
SMART Domains Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 113 N/A INTRINSIC
ChSh 115 177 6.46e-34 SMART
CHROMO 120 172 5.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114459
AA Change: K173R

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980
AA Change: K173R

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
low complexity region 186 295 N/A INTRINSIC
low complexity region 310 341 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000203220
AA Change: K161R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980
AA Change: K161R

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
low complexity region 186 295 N/A INTRINSIC
low complexity region 310 341 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000203253
AA Change: K71R
Predicted Effect probably benign
Transcript: ENSMUST00000203954
AA Change: K173R

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
AA Change: K173R

DomainStartEndE-ValueType
RRM 22 94 1.51e-23 SMART
RRM 113 185 7.64e-20 SMART
low complexity region 198 307 N/A INTRINSIC
low complexity region 322 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204158
AA Change: K161R

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
AA Change: K161R

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
Pfam:HnRNPA1 245 282 9.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204188
AA Change: K161R

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980
AA Change: K161R

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
Pfam:HnRNPA1 245 282 9.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203655
Predicted Effect probably benign
Transcript: ENSMUST00000141711
SMART Domains Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836

DomainStartEndE-ValueType
CHROMO 29 81 2.03e-17 SMART
low complexity region 90 109 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205204
Meta Mutation Damage Score 0.0959 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency 98% (83/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the A/B 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 two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,603,473 (GRCm39) I91K probably damaging Het
AAdacl4fm3 T G 4: 144,441,961 (GRCm39) T97P probably damaging Het
Adamts16 T A 13: 70,946,154 (GRCm39) M254L probably benign Het
Adgre5 T C 8: 84,456,806 (GRCm39) I192V possibly damaging Het
Akr1c21 G A 13: 4,626,351 (GRCm39) probably null Het
Amz2 A G 11: 109,324,850 (GRCm39) T245A probably benign Het
Aqp7 A C 4: 41,036,109 (GRCm39) M43R probably null Het
Arid3c G A 4: 41,725,103 (GRCm39) P315S probably damaging Het
Birc2 A T 9: 7,826,952 (GRCm39) Y345N possibly damaging Het
Blnk T C 19: 40,950,807 (GRCm39) T115A probably benign Het
Col5a1 T C 2: 27,842,393 (GRCm39) S423P unknown Het
Corin A T 5: 72,661,295 (GRCm39) F66Y possibly damaging Het
Cpd A T 11: 76,737,495 (GRCm39) W100R probably damaging Het
Cpsf1 A T 15: 76,486,570 (GRCm39) Y296* probably null Het
Cyp2d34 T C 15: 82,505,046 (GRCm39) T5A probably benign Het
Dhrs7c G T 11: 67,705,903 (GRCm39) V219L possibly damaging Het
Dnah3 T C 7: 119,689,169 (GRCm39) M82V probably benign Het
Dnah9 A G 11: 65,786,747 (GRCm39) S3629P probably damaging Het
Fbrs T C 7: 127,086,883 (GRCm39) L33P probably damaging Het
Fhip1b A G 7: 105,034,269 (GRCm39) L454P probably damaging Het
Galnt11 T A 5: 25,463,891 (GRCm39) S388T probably damaging Het
Glmp A G 3: 88,235,426 (GRCm39) probably benign Het
Gm9894 A G 13: 67,920,845 (GRCm39) noncoding transcript Het
Grik3 A G 4: 125,584,985 (GRCm39) M618V probably benign Het
Hmcn1 T C 1: 150,620,778 (GRCm39) D1144G probably damaging Het
Kmt2c T C 5: 25,580,925 (GRCm39) I523V probably benign Het
Lmln C T 16: 32,937,500 (GRCm39) P622S probably damaging Het
Lmtk2 A G 5: 144,110,680 (GRCm39) T467A probably damaging Het
Map1s T A 8: 71,366,095 (GRCm39) N333K probably damaging Het
Mgat4d C A 8: 84,092,340 (GRCm39) A242D probably damaging Het
Muc5b T A 7: 141,417,261 (GRCm39) Y3402* probably null Het
Myo3b G T 2: 70,111,562 (GRCm39) A922S probably benign Het
Nphs1 T C 7: 30,181,956 (GRCm39) V1183A probably benign Het
Nup160 T A 2: 90,509,843 (GRCm39) C31S probably benign Het
Or4c58 T C 2: 89,674,598 (GRCm39) T240A probably benign Het
Or8k25 A T 2: 86,244,035 (GRCm39) Y120* probably null Het
Pcdhb5 T G 18: 37,454,455 (GRCm39) Y278* probably null Het
Pkhd1 T A 1: 20,268,274 (GRCm39) E3368V possibly damaging Het
Pla2g6 A G 15: 79,173,341 (GRCm39) M676T probably benign Het
Plcb1 A T 2: 135,179,361 (GRCm39) N590Y probably damaging Het
Prr12 G A 7: 44,699,018 (GRCm39) probably benign Het
Psat1 A G 19: 15,901,666 (GRCm39) probably null Het
Ptpn9 T G 9: 56,934,692 (GRCm39) I152S possibly damaging Het
Ric8b T A 10: 84,783,475 (GRCm39) F111Y probably damaging Het
Slc44a3 G A 3: 121,254,914 (GRCm39) A568V probably benign Het
Smarcd3 T G 5: 24,800,192 (GRCm39) R213S probably damaging Het
Snx13 T C 12: 35,136,895 (GRCm39) Y119H probably damaging Het
Socs2 C A 10: 95,248,943 (GRCm39) E57* probably null Het
Spred1 C T 2: 117,005,828 (GRCm39) P197S probably benign Het
Srek1 G T 13: 103,880,112 (GRCm39) P482Q unknown Het
Tapbp A G 17: 34,139,405 (GRCm39) T134A probably benign Het
Tarbp1 T C 8: 127,171,007 (GRCm39) I998V possibly damaging Het
Tbcel G T 9: 42,372,589 (GRCm39) probably benign Het
Tec A G 5: 72,939,448 (GRCm39) F189S probably damaging Het
Tmprss11g A T 5: 86,647,422 (GRCm39) Y39N probably damaging Het
Tmtc1 A G 6: 148,256,902 (GRCm39) probably benign Het
Trpa1 A G 1: 14,943,899 (GRCm39) I1070T probably damaging Het
Trpm2 T A 10: 77,771,709 (GRCm39) probably null Het
Ttc21b G T 2: 66,056,379 (GRCm39) T669K probably benign Het
Ttll4 G A 1: 74,718,560 (GRCm39) R137H probably benign Het
Ubqln3 G T 7: 103,792,067 (GRCm39) L8I possibly damaging Het
Ung C A 5: 114,269,415 (GRCm39) N42K probably benign Het
Upp1 T C 11: 9,084,865 (GRCm39) S195P probably damaging Het
Urb1 T C 16: 90,557,340 (GRCm39) E1762G possibly damaging Het
Utp11 T C 4: 124,579,904 (GRCm39) K35E probably damaging Het
Vav3 A T 3: 109,418,294 (GRCm39) K305I probably damaging Het
Vmn1r197 A G 13: 22,512,498 (GRCm39) I140V possibly damaging Het
Vmn2r-ps158 A G 7: 42,673,503 (GRCm39) E187G probably benign Het
Zfc3h1 A G 10: 115,226,827 (GRCm39) T295A probably benign Het
Zfp268 A T 4: 145,350,877 (GRCm39) probably benign Het
Zfp46 T C 4: 136,017,823 (GRCm39) L219P probably damaging Het
Zfp493 G A 13: 67,931,999 (GRCm39) V33M probably damaging Het
Zfp92 T C X: 72,463,466 (GRCm39) probably benign Het
Other mutations in Hnrnpa2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Hnrnpa2b1 APN 6 51,443,993 (GRCm39) missense probably damaging 1.00
PIT4142001:Hnrnpa2b1 UTSW 6 51,441,089 (GRCm39) missense probably benign 0.10
R4694:Hnrnpa2b1 UTSW 6 51,441,163 (GRCm39) missense probably damaging 1.00
R5422:Hnrnpa2b1 UTSW 6 51,442,208 (GRCm39) missense probably benign 0.23
R5854:Hnrnpa2b1 UTSW 6 51,443,589 (GRCm39) unclassified probably benign
R7666:Hnrnpa2b1 UTSW 6 51,443,917 (GRCm39) missense possibly damaging 0.53
R7877:Hnrnpa2b1 UTSW 6 51,443,302 (GRCm39) missense unknown
R8481:Hnrnpa2b1 UTSW 6 51,444,391 (GRCm39) missense probably benign 0.08
R8856:Hnrnpa2b1 UTSW 6 51,443,120 (GRCm39) critical splice donor site probably null
RF020:Hnrnpa2b1 UTSW 6 51,443,674 (GRCm39) missense probably damaging 0.99
Z1176:Hnrnpa2b1 UTSW 6 51,444,223 (GRCm39) missense probably damaging 1.00
Z1177:Hnrnpa2b1 UTSW 6 51,441,509 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCTGGTCCTGGTCCAAAATTGC -3'
(R):5'- GCCCATGTGACTGTGAAGAAGCTG -3'

Sequencing Primer
(F):5'- GGTCCAAAATTGCCACCG -3'
(R):5'- ATAATTACCGATAGGCAGTCTGG -3'
Posted On 2014-04-24