Incidental Mutation 'R6359:Asic5'
ID 514179
Institutional Source Beutler Lab
Gene Symbol Asic5
Ensembl Gene ENSMUSG00000028008
Gene Name acid-sensing ion channel family member 5
Synonyms brain-liver-intestine amiloride-sensitive sodium channel, BLINaC, Accn5
MMRRC Submission 044509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6359 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 81889600-81928540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81911803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 133 (D133V)
Ref Sequence ENSEMBL: ENSMUSP00000029641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029641] [ENSMUST00000107736]
AlphaFold Q9R0Y1
Predicted Effect possibly damaging
Transcript: ENSMUST00000029641
AA Change: D133V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: D133V

DomainStartEndE-ValueType
Pfam:ASC 41 466 3.5e-94 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107736
AA Change: D91V

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: D91V

DomainStartEndE-ValueType
Pfam:ASC 1 425 5.5e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142889
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11b A G 3: 35,832,210 (GRCm39) I22V probably benign Het
Ccdc18 C T 5: 108,283,391 (GRCm39) T34I probably damaging Het
Ces2a A G 8: 105,462,710 (GRCm39) I100V probably benign Het
Ddi2 T A 4: 141,411,899 (GRCm39) T338S probably damaging Het
Dync1li1 A G 9: 114,542,638 (GRCm39) I267V probably benign Het
Eif1ad14 G A 12: 87,886,275 (GRCm39) T118M probably benign Het
Fbxo10 A T 4: 45,041,796 (GRCm39) V637E possibly damaging Het
Gak T C 5: 108,719,766 (GRCm39) E458G probably damaging Het
Glp1r G T 17: 31,148,946 (GRCm39) V287F probably damaging Het
Gsdmc2 T C 15: 63,696,866 (GRCm39) E435G probably damaging Het
Hsd11b1 T A 1: 192,924,660 (GRCm39) probably benign Het
Igkv13-84 T G 6: 68,916,592 (GRCm39) F3V probably benign Het
Igsf9b C A 9: 27,220,895 (GRCm39) A87E probably benign Het
Ints1 G T 5: 139,741,972 (GRCm39) L1796I probably benign Het
Ipo8 A G 6: 148,678,748 (GRCm39) L950P probably benign Het
Lama5 T C 2: 179,837,775 (GRCm39) D931G probably benign Het
Lamb1 A G 12: 31,332,715 (GRCm39) E327G probably damaging Het
Lrp1b T C 2: 41,185,608 (GRCm39) Y1369C probably damaging Het
Mapk3 A G 7: 126,359,928 (GRCm39) T67A probably benign Het
Mrpl4 T A 9: 20,919,030 (GRCm39) V225E probably damaging Het
Ncln C T 10: 81,326,118 (GRCm39) G278S probably damaging Het
Nlrp3 G A 11: 59,439,392 (GRCm39) R323Q probably damaging Het
Nol8 A G 13: 49,817,546 (GRCm39) D774G probably benign Het
Or11i1 A T 3: 106,729,731 (GRCm39) I48N probably damaging Het
Or52p1 T C 7: 104,267,510 (GRCm39) V208A probably damaging Het
Plekha8 G T 6: 54,590,104 (GRCm39) C23F probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Spata31d1a A G 13: 59,850,920 (GRCm39) S403P probably benign Het
Spata31d1c A T 13: 65,183,406 (GRCm39) N316I possibly damaging Het
Tmem30c A T 16: 57,096,513 (GRCm39) S203T probably benign Het
Ttn T G 2: 76,569,300 (GRCm39) N18871H possibly damaging Het
Other mutations in Asic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Asic5 APN 3 81,911,953 (GRCm39) missense possibly damaging 0.48
IGL01155:Asic5 APN 3 81,915,895 (GRCm39) missense probably benign 0.02
IGL01908:Asic5 APN 3 81,913,877 (GRCm39) nonsense probably null
IGL03049:Asic5 APN 3 81,904,256 (GRCm39) unclassified probably benign
IGL03078:Asic5 APN 3 81,921,735 (GRCm39) missense possibly damaging 0.65
R0498:Asic5 UTSW 3 81,913,778 (GRCm39) splice site probably benign
R0517:Asic5 UTSW 3 81,916,833 (GRCm39) missense probably benign 0.01
R0668:Asic5 UTSW 3 81,928,308 (GRCm39) missense probably damaging 1.00
R0960:Asic5 UTSW 3 81,913,847 (GRCm39) missense probably benign 0.04
R0973:Asic5 UTSW 3 81,915,755 (GRCm39) splice site probably benign
R1061:Asic5 UTSW 3 81,928,308 (GRCm39) missense probably damaging 1.00
R1106:Asic5 UTSW 3 81,911,897 (GRCm39) missense probably damaging 1.00
R1703:Asic5 UTSW 3 81,907,029 (GRCm39) missense possibly damaging 0.75
R1864:Asic5 UTSW 3 81,919,294 (GRCm39) missense probably benign 0.00
R1892:Asic5 UTSW 3 81,928,293 (GRCm39) missense probably damaging 1.00
R4629:Asic5 UTSW 3 81,913,811 (GRCm39) missense probably damaging 1.00
R4736:Asic5 UTSW 3 81,907,116 (GRCm39) missense possibly damaging 0.56
R5254:Asic5 UTSW 3 81,928,294 (GRCm39) missense probably damaging 1.00
R5284:Asic5 UTSW 3 81,915,830 (GRCm39) missense probably damaging 1.00
R5573:Asic5 UTSW 3 81,911,791 (GRCm39) missense probably benign 0.10
R6163:Asic5 UTSW 3 81,913,833 (GRCm39) missense probably damaging 1.00
R6553:Asic5 UTSW 3 81,916,773 (GRCm39) missense possibly damaging 0.57
R6623:Asic5 UTSW 3 81,915,892 (GRCm39) missense probably damaging 1.00
R7084:Asic5 UTSW 3 81,919,318 (GRCm39) missense probably benign 0.00
R7168:Asic5 UTSW 3 81,919,282 (GRCm39) missense probably damaging 1.00
R7296:Asic5 UTSW 3 81,928,383 (GRCm39) missense probably benign 0.03
R7304:Asic5 UTSW 3 81,916,872 (GRCm39) missense possibly damaging 0.88
R7885:Asic5 UTSW 3 81,913,812 (GRCm39) missense probably benign 0.09
R8941:Asic5 UTSW 3 81,913,915 (GRCm39) splice site probably benign
R9391:Asic5 UTSW 3 81,928,366 (GRCm39) missense probably benign
R9542:Asic5 UTSW 3 81,911,850 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- AGGGAAGCTGCTCACTTTG -3'
(R):5'- TTTGCCAAAGAACTCACAGTGC -3'

Sequencing Primer
(F):5'- ATCTGAACACAATGCACAGTGG -3'
(R):5'- CAGTGCACCAAAGTGTCGTTATTGAG -3'
Posted On 2018-04-27