Incidental Mutation 'R8233:Hnrnpa3'
ID637207
Institutional Source Beutler Lab
Gene Symbol Hnrnpa3
Ensembl Gene ENSMUSG00000059005
Gene Nameheterogeneous nuclear ribonucleoprotein A3
SynonymsHnrpa3, 2610510D13Rik, 2410013L13Rik, 2610209F03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock #R8233 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location75659261-75669407 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75662516 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 195 (N195D)
Ref Sequence ENSEMBL: ENSMUSP00000107595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090792] [ENSMUST00000111961] [ENSMUST00000111962] [ENSMUST00000111964] [ENSMUST00000141974] [ENSMUST00000164947]
Predicted Effect probably benign
Transcript: ENSMUST00000090792
AA Change: N195D

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000088298
Gene: ENSMUSG00000059005
AA Change: N195D

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RRM 36 108 4.06e-24 SMART
RRM 127 199 1.94e-21 SMART
low complexity region 211 338 N/A INTRINSIC
low complexity region 349 378 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111961
AA Change: N195D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107592
Gene: ENSMUSG00000059005
AA Change: N195D

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RRM 36 108 4.06e-24 SMART
RRM 127 199 1.94e-21 SMART
Pfam:HnRNPA1 266 303 8.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111962
AA Change: N173D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107593
Gene: ENSMUSG00000059005
AA Change: N173D

DomainStartEndE-ValueType
RRM 14 86 4.06e-24 SMART
RRM 105 177 1.94e-21 SMART
low complexity region 189 316 N/A INTRINSIC
low complexity region 327 356 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111964
AA Change: N195D

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107595
Gene: ENSMUSG00000059005
AA Change: N195D

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RRM 36 108 4.06e-24 SMART
RRM 127 199 1.94e-21 SMART
low complexity region 211 338 N/A INTRINSIC
low complexity region 349 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141974
AA Change: N10D

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000116125
Gene: ENSMUSG00000059005
AA Change: N10D

DomainStartEndE-ValueType
PDB:2UP1|A 1 25 7e-8 PDB
low complexity region 26 153 N/A INTRINSIC
low complexity region 164 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164947
AA Change: N173D

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000126069
Gene: ENSMUSG00000059005
AA Change: N173D

DomainStartEndE-ValueType
RRM 14 86 4.06e-24 SMART
RRM 105 177 1.94e-21 SMART
low complexity region 189 316 N/A INTRINSIC
low complexity region 327 356 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,469,616 V42E probably benign Het
Abca12 T C 1: 71,351,757 E153G probably benign Het
Adamts20 A C 15: 94,291,652 I1440S probably benign Het
Aspm T A 1: 139,457,304 S229T probably benign Het
Atp2b2 A T 6: 113,765,719 probably null Het
Cd101 G T 3: 100,993,673 H1032N unknown Het
Col6a2 A G 10: 76,608,706 probably null Het
Crot A T 5: 8,976,027 I320K possibly damaging Het
D5Ertd579e A T 5: 36,615,244 D602E probably damaging Het
Degs1 A G 1: 182,279,595 V69A probably benign Het
Dgkz A G 2: 91,939,649 S557P probably damaging Het
Fat1 T A 8: 44,952,018 L602Q Het
Gli2 A T 1: 118,844,437 Y513N probably damaging Het
Gm13762 C T 2: 88,973,738 R51H probably benign Het
H2-Q10 A G 17: 35,471,086 T202A probably benign Het
Ifna1 C T 4: 88,850,391 T102I possibly damaging Het
Igfbp3 T A 11: 7,210,152 H167L probably benign Het
Igfn1 T C 1: 135,968,044 T1595A probably benign Het
Krt14 A G 11: 100,203,352 V472A probably damaging Het
Lrrc74b T A 16: 17,558,225 H187L probably benign Het
Magoh T G 4: 107,880,935 V44G possibly damaging Het
Mbnl1 A T 3: 60,625,130 I274L probably benign Het
Olfr60 T G 7: 140,345,498 M164L probably benign Het
Pdcd1 A G 1: 94,039,417 V252A probably damaging Het
Peg10 C CTCA 6: 4,756,453 probably benign Het
Plcxd3 A G 15: 4,516,835 D107G possibly damaging Het
Polr2m T A 9: 71,483,584 D112V probably benign Het
Ptprn A T 1: 75,253,152 M701K probably damaging Het
Rxrb A G 17: 34,036,905 D421G possibly damaging Het
Slfn4 A G 11: 83,187,529 E381G probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 probably benign Het
Srgap1 A G 10: 121,825,436 I530T probably damaging Het
Stmn4 A G 14: 66,357,892 H122R probably damaging Het
Sycp2 T C 2: 178,356,634 E1031G probably damaging Het
Tle1 T C 4: 72,124,944 T553A probably benign Het
Tnik T A 3: 28,554,937 W217R unknown Het
Tyrp1 T C 4: 80,850,953 V161A unknown Het
Usp29 T A 7: 6,962,407 F416L probably benign Het
Usp45 T C 4: 21,781,736 V34A probably benign Het
Vmn1r119 A G 7: 21,012,007 V150A probably damaging Het
Other mutations in Hnrnpa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0076:Hnrnpa3 UTSW 2 75661696 missense probably damaging 1.00
R0095:Hnrnpa3 UTSW 2 75661696 missense probably damaging 1.00
R4583:Hnrnpa3 UTSW 2 75663606 missense probably benign 0.23
R4762:Hnrnpa3 UTSW 2 75662007 missense possibly damaging 0.95
R5499:Hnrnpa3 UTSW 2 75665240 missense probably benign 0.23
R5802:Hnrnpa3 UTSW 2 75665056 missense unknown
R6253:Hnrnpa3 UTSW 2 75662570 missense possibly damaging 0.82
R8437:Hnrnpa3 UTSW 2 75662675 missense unknown
Predicted Primers PCR Primer
(F):5'- AGGCTGAGAACTATTGATCTAGATC -3'
(R):5'- TCCACGACCAAAGTTTCCTC -3'

Sequencing Primer
(F):5'- CATGGTGATAAAGGGTTCAC -3'
(R):5'- GTTTCCTCCACGACCCATAAAGTTG -3'
Posted On2020-07-13