Incidental Mutation 'R5422:Hnrnpa2b1'
ID 426632
Institutional Source Beutler Lab
Gene Symbol Hnrnpa2b1
Ensembl Gene ENSMUSG00000004980
Gene Name heterogeneous nuclear ribonucleoprotein A2/B1
Synonyms 9130414A06Rik, Hnrpa2, Hnrpa2b1
MMRRC Submission 042846-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5422 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 51437912-51446874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51442208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 236 (S236R)
Ref Sequence ENSEMBL: ENSMUSP00000145028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000114459] [ENSMUST00000203220] [ENSMUST00000203954] [ENSMUST00000204188] [ENSMUST00000204158]
AlphaFold O88569
Predicted Effect unknown
Transcript: ENSMUST00000069949
AA Change: S224R
SMART Domains Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
AA Change: S224R

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 unknown
Transcript: ENSMUST00000090002
AA Change: S224R
SMART Domains Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
AA Change: S224R

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: ENSMUST00000114459
AA Change: S236R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980
AA Change: S236R

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: ENSMUST00000203220
AA Change: S224R
SMART Domains Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980
AA Change: S224R

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: ENSMUST00000203253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203655
Predicted Effect probably benign
Transcript: ENSMUST00000203954
AA Change: S236R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
AA Change: S236R

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 unknown
Transcript: ENSMUST00000204188
AA Change: S224R
SMART Domains Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980
AA Change: S224R

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 unknown
Transcript: ENSMUST00000204158
AA Change: S224R
SMART Domains Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
AA Change: S224R

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: ENSMUST00000205204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204902
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,425,606 (GRCm39) S1219G probably benign Het
Adgrg5 T A 8: 95,660,580 (GRCm39) I73N probably damaging Het
Agmat C A 4: 141,483,144 (GRCm39) H193N probably damaging Het
Ambn T C 5: 88,612,370 (GRCm39) probably null Het
Atp8b5 T A 4: 43,366,644 (GRCm39) C803S probably benign Het
Btaf1 A T 19: 36,928,507 (GRCm39) R109S probably benign Het
Btnl6 C T 17: 34,733,081 (GRCm39) G261R possibly damaging Het
Clk3 A G 9: 57,672,721 (GRCm39) V27A probably benign Het
Clu A G 14: 66,213,051 (GRCm39) S146G probably damaging Het
Cyp2w1 T C 5: 139,338,528 (GRCm39) F43L probably benign Het
Elf3 C T 1: 135,182,778 (GRCm39) E316K probably damaging Het
Epha5 A T 5: 84,479,349 (GRCm39) D218E probably damaging Het
Ereg T C 5: 91,222,666 (GRCm39) probably null Het
Ewsr1 A G 11: 5,030,668 (GRCm39) probably benign Het
Fat4 A G 3: 38,941,394 (GRCm39) I96V possibly damaging Het
Fgl2 T G 5: 21,580,808 (GRCm39) N383K probably damaging Het
Fkbp11 A T 15: 98,625,989 (GRCm39) probably null Het
Fn3k C A 11: 121,340,948 (GRCm39) P201Q probably damaging Het
Fsip2 A G 2: 82,812,572 (GRCm39) I2964V probably benign Het
Gbx1 C T 5: 24,709,667 (GRCm39) V393I possibly damaging Het
Gch1 C T 14: 47,394,906 (GRCm39) A187T probably damaging Het
Ghdc C A 11: 100,660,020 (GRCm39) K242N probably benign Het
Ghrhr A G 6: 55,365,188 (GRCm39) H394R probably benign Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Kcnj5 A G 9: 32,229,001 (GRCm39) Y66H probably benign Het
Kif15 T A 9: 122,813,954 (GRCm39) probably null Het
Magi3 C T 3: 103,958,684 (GRCm39) C467Y probably damaging Het
Map7 G T 10: 20,142,512 (GRCm39) V303F probably damaging Het
Mapk11 A G 15: 89,030,488 (GRCm39) L135P probably damaging Het
Mapkapk5 T A 5: 121,669,785 (GRCm39) probably null Het
Myh7b A C 2: 155,472,954 (GRCm39) Q1405P probably damaging Het
Nalcn A T 14: 123,752,777 (GRCm39) I328N probably damaging Het
Nprl2 C A 9: 107,420,796 (GRCm39) R144S probably benign Het
Ogfr G T 2: 180,237,067 (GRCm39) D551Y possibly damaging Het
Ogfr A T 2: 180,237,068 (GRCm39) D551V probably benign Het
Or6b13 A T 7: 139,782,305 (GRCm39) V126E probably damaging Het
Or8c10 A T 9: 38,279,270 (GRCm39) T143S probably benign Het
Parp14 T C 16: 35,686,545 (GRCm39) K101E probably benign Het
Pcdhb16 A T 18: 37,612,920 (GRCm39) T627S probably damaging Het
Pdzrn4 G A 15: 92,575,502 (GRCm39) G303S probably benign Het
Plcl1 A T 1: 55,736,543 (GRCm39) Y628F probably benign Het
Ptpn9 T A 9: 56,940,441 (GRCm39) W194R probably damaging Het
Ranbp9 A T 13: 43,573,102 (GRCm39) M474K probably benign Het
Rasgef1a T A 6: 118,065,095 (GRCm39) F370Y probably damaging Het
Rassf5 C A 1: 131,108,911 (GRCm39) R218L possibly damaging Het
Scart1 A T 7: 139,804,068 (GRCm39) H422L probably benign Het
Serpine2 C A 1: 79,794,592 (GRCm39) V114L probably benign Het
Serpine2 T C 1: 79,799,206 (GRCm39) Y16C probably benign Het
Sgms1 G T 19: 32,137,232 (GRCm39) N111K probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Tbc1d17 A T 7: 44,498,292 (GRCm39) M1K probably null Het
Tcf12 A T 9: 71,776,320 (GRCm39) H403Q probably damaging Het
Thoc2l T C 5: 104,667,512 (GRCm39) I678T probably damaging Het
Thsd7b T C 1: 129,849,071 (GRCm39) S928P probably benign Het
Tjp1 A T 7: 64,952,715 (GRCm39) F1540I probably damaging Het
Tph2 T A 10: 114,915,669 (GRCm39) D457V possibly damaging Het
Usp9y T C Y: 1,314,676 (GRCm39) I2112V probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp335 T C 2: 164,749,650 (GRCm39) K249R probably damaging Het
Zfp54 C A 17: 21,654,788 (GRCm39) S427R probably benign Het
Zfp607b A G 7: 27,401,813 (GRCm39) T90A 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
R1617:Hnrnpa2b1 UTSW 6 51,443,378 (GRCm39) missense possibly damaging 0.69
R4694:Hnrnpa2b1 UTSW 6 51,441,163 (GRCm39) missense probably damaging 1.00
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'- TTTTCTACAATGCACAGGAACTCC -3'
(R):5'- AAAATGTGTTGCCTTGGTAGTAGAG -3'

Sequencing Primer
(F):5'- TGGTACAGTAGTTAGGCAAATTTG -3'
(R):5'- AGTCATCATCATTCCGGG -3'
Posted On 2016-09-01