Incidental Mutation 'R4694:Hnrnpa2b1'
ID 355554
Institutional Source Beutler Lab
Gene Symbol Hnrnpa2b1
Ensembl Gene ENSMUSG00000004980
Gene Name heterogeneous nuclear ribonucleoprotein A2/B1
Synonyms 9130414A06Rik, Hnrpa2, Hnrpa2b1
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R4694 (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 51441163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 302 (D302E)
Ref Sequence ENSEMBL: ENSMUSP00000145028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000114459] [ENSMUST00000203220] [ENSMUST00000204158] [ENSMUST00000203954] [ENSMUST00000204188]
AlphaFold O88569
Predicted Effect unknown
Transcript: ENSMUST00000069949
AA Change: D250E
SMART Domains Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
AA Change: D250E

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: D290E
SMART Domains Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
AA Change: D290E

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 damaging
Transcript: ENSMUST00000114459
AA Change: D302E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980
AA Change: D302E

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: D290E
SMART Domains Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980
AA Change: D290E

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: D116E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203655
Predicted Effect unknown
Transcript: ENSMUST00000204158
AA Change: D250E
SMART Domains Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
AA Change: D250E

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 damaging
Transcript: ENSMUST00000203954
AA Change: D302E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
AA Change: D302E

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: D250E
SMART Domains Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980
AA Change: D250E

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: ENSMUST00000204902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204090
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E 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
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'- TCCTCGCTTTCTGAGATGCAG -3'
(R):5'- CGGAGGTGGTTATGACAACTATGG -3'

Sequencing Primer
(F):5'- GATGCAGAACTGTATGGACTTCC -3'
(R):5'- TGGTTATGACAACTATGGAGGAG -3'
Posted On 2015-10-21