Incidental Mutation 'R5651:Hnrnpa1'
ID 501314
Institutional Source Beutler Lab
Gene Symbol Hnrnpa1
Ensembl Gene ENSMUSG00000046434
Gene Name heterogeneous nuclear ribonucleoprotein A1
Synonyms hnrnp-A, Hnrpa1, Hdp, D15Ertd119e
MMRRC Submission 043297-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R5651 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 103148859-103155119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 103148955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 5 (E5D)
Ref Sequence ENSEMBL: ENSMUSP00000154865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036004] [ENSMUST00000087351] [ENSMUST00000118152] [ENSMUST00000230171] [ENSMUST00000230489] [ENSMUST00000231141]
AlphaFold P49312
Predicted Effect possibly damaging
Transcript: ENSMUST00000036004
AA Change: E5D

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042658
Gene: ENSMUSG00000046434
AA Change: E5D

DomainStartEndE-ValueType
RRM 15 87 6.44e-27 SMART
RRM 106 178 6.86e-22 SMART
low complexity region 190 321 N/A INTRINSIC
low complexity region 331 346 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000087351
AA Change: E5D

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084609
Gene: ENSMUSG00000046434
AA Change: E5D

DomainStartEndE-ValueType
RRM 15 87 6.44e-27 SMART
RRM 106 178 6.86e-22 SMART
Pfam:HnRNPA1 257 292 4e-18 PFAM
low complexity region 303 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118152
SMART Domains Protein: ENSMUSP00000113157
Gene: ENSMUSG00000009575

DomainStartEndE-ValueType
CHROMO 19 71 1.1e-18 SMART
ChSh 115 177 1.42e-30 SMART
CHROMO 120 172 3.6e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000230171
AA Change: E5D

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230489
AA Change: E5D

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231141
AA Change: E5D

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, dilated cardiacmyopathy, and hypoplastic tongue and intercostal muscles. Mice heterozygous for a knock-out allele exhibit altered cardiac signaling, increased heart rate and increased systemic arterial systolic blood pressure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G A 11: 48,910,700 (GRCm39) H578Y probably damaging Het
Atp11b A G 3: 35,909,289 (GRCm39) D1161G probably damaging Het
Atp8b1 G C 18: 64,664,453 (GRCm39) I1238M probably benign Het
AY358078 T A 14: 52,059,617 (GRCm39) V318D unknown Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Boc T A 16: 44,341,558 (GRCm39) I16F probably benign Het
Brinp3 A T 1: 146,577,537 (GRCm39) T191S probably benign Het
Cald1 T A 6: 34,739,255 (GRCm39) N419K probably damaging Het
Cecr2 G A 6: 120,732,521 (GRCm39) G471D probably damaging Het
Cftr T A 6: 18,255,364 (GRCm39) probably null Het
Cyp2c38 T A 19: 39,449,156 (GRCm39) T66S probably damaging Het
Fbxo11 A T 17: 88,323,136 (GRCm39) D83E probably benign Het
Fshr T A 17: 89,293,257 (GRCm39) M474L possibly damaging Het
Hhla1 T A 15: 65,813,663 (GRCm39) E223V probably damaging Het
Htr2a T A 14: 74,943,143 (GRCm39) V241E probably damaging Het
Ier5 T C 1: 154,974,491 (GRCm39) E229G possibly damaging Het
Inka2 C A 3: 105,623,748 (GRCm39) Q22K probably damaging Het
Krt87 A T 15: 101,331,910 (GRCm39) M276K possibly damaging Het
Mast1 G C 8: 85,655,597 (GRCm39) Y182* probably null Het
Mia3 T A 1: 183,139,998 (GRCm39) D239V probably damaging Het
Mmut T A 17: 41,258,002 (GRCm39) D389E probably damaging Het
Mpp7 A G 18: 7,355,016 (GRCm39) probably null Het
Mycbp2 A G 14: 103,520,101 (GRCm39) C739R probably null Het
Or13e8 C G 4: 43,696,636 (GRCm39) C179S probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or8k21 A G 2: 86,144,784 (GRCm39) I282T probably benign Het
Or9e1 A T 11: 58,732,317 (GRCm39) R126* probably null Het
Palld A T 8: 61,991,822 (GRCm39) I510N probably damaging Het
Pappa A G 4: 65,074,589 (GRCm39) E381G probably damaging Het
Phldb1 G A 9: 44,623,200 (GRCm39) T618I probably damaging Het
Pkd1 A G 17: 24,810,361 (GRCm39) E3631G possibly damaging Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Plk4 A G 3: 40,767,940 (GRCm39) T828A probably benign Het
Psmb5 C T 14: 54,854,221 (GRCm39) A86T possibly damaging Het
Rasal2 A G 1: 156,984,951 (GRCm39) V907A probably damaging Het
Rxra C T 2: 27,627,353 (GRCm39) T24M probably benign Het
Senp1 A G 15: 97,974,498 (GRCm39) S105P probably benign Het
Sh3rf1 A G 8: 61,816,201 (GRCm39) D486G probably damaging Het
Slc49a4 G A 16: 35,555,986 (GRCm39) A158V probably benign Het
Slfn5 A C 11: 82,851,490 (GRCm39) N596H probably benign Het
Tanc2 T A 11: 105,689,526 (GRCm39) D229E probably benign Het
Taok2 T C 7: 126,479,455 (GRCm39) K57E probably damaging Het
Thsd7a C T 6: 12,343,212 (GRCm39) C1135Y probably damaging Het
V1ra8 T C 6: 90,180,508 (GRCm39) L237P probably benign Het
Vcpip1 G A 1: 9,818,065 (GRCm39) T106M probably damaging Het
Vmn1r215 T G 13: 23,259,981 (GRCm39) I7S possibly damaging Het
Vmn1r233 T A 17: 21,214,279 (GRCm39) M224L probably benign Het
Xpot A T 10: 121,440,454 (GRCm39) D592E probably damaging Het
Other mutations in Hnrnpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Hnrnpa1 APN 15 103,150,864 (GRCm39) missense probably benign 0.04
IGL00900:Hnrnpa1 APN 15 103,152,166 (GRCm39) intron probably benign
IGL02949:Hnrnpa1 APN 15 103,150,538 (GRCm39) missense probably damaging 1.00
R1920:Hnrnpa1 UTSW 15 103,150,699 (GRCm39) missense possibly damaging 0.85
R7310:Hnrnpa1 UTSW 15 103,149,884 (GRCm39) missense probably damaging 0.99
R7811:Hnrnpa1 UTSW 15 103,149,900 (GRCm39) missense possibly damaging 0.94
R8356:Hnrnpa1 UTSW 15 103,150,529 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CTCAAGTAAGGGCGGAGTCTAC -3'
(R):5'- AGTCTGTGAAGTTTGCCACAAG -3'

Sequencing Primer
(F):5'- TAAGGGCGGAGTCTACCAATACC -3'
(R):5'- TTTGCCACAAGGAACAGTGC -3'
Posted On 2017-12-01