Incidental Mutation 'R1106:Asic5'
ID 98467
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 039179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1106 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 81889600-81928540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81911897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 122 (F122L)
Ref Sequence ENSEMBL: ENSMUSP00000103364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029641] [ENSMUST00000107736]
AlphaFold Q9R0Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000029641
AA Change: F164L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: F164L

DomainStartEndE-ValueType
Pfam:ASC 41 466 3.5e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107736
AA Change: F122L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: F122L

DomainStartEndE-ValueType
Pfam:ASC 1 425 5.5e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142889
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
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 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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Caml A G 13: 55,772,538 (GRCm39) T61A probably benign Het
Cfap20 A T 8: 96,147,873 (GRCm39) I156N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dio2 A G 12: 90,704,985 (GRCm39) L25P probably damaging Het
Eps8 G A 6: 137,491,322 (GRCm39) P352L probably damaging Het
Gnai2 A G 9: 107,497,385 (GRCm39) I3T probably damaging Het
Hexim2 T C 11: 103,029,319 (GRCm39) S124P probably damaging Het
Klk1b16 C T 7: 43,788,937 (GRCm39) R57C probably damaging Het
Mier3 A T 13: 111,844,763 (GRCm39) D205V probably damaging Het
Or2y14 A G 11: 49,404,519 (GRCm39) D18G probably damaging Het
Or4c102 T C 2: 88,422,355 (GRCm39) V69A probably benign Het
Ptprz1 A G 6: 22,965,748 (GRCm39) D192G probably damaging Het
Samd3 G A 10: 26,147,689 (GRCm39) V455M possibly damaging Het
Slc9c1 C A 16: 45,376,170 (GRCm39) Q419K possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tas2r139 A G 6: 42,118,479 (GRCm39) T204A probably benign Het
Ush2a G A 1: 188,643,180 (GRCm39) E4181K possibly damaging Het
Vps37a T A 8: 40,965,247 (GRCm39) I33N probably damaging Het
Zfp335 TTGCTGCTGCTGCTGCTGCT TTGCTGCTGCTGCTGCT 2: 164,749,471 (GRCm39) probably benign Het
Zik1 G A 7: 10,224,312 (GRCm39) R262C probably 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
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
R6359:Asic5 UTSW 3 81,911,803 (GRCm39) missense possibly damaging 0.87
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'- TCTGTGCTGCCAGTCAAAGAGAAG -3'
(R):5'- GTATCTCACATGGATGCCACATCTCC -3'

Sequencing Primer
(F):5'- AGAGGGAAGCTGCTCACTTTG -3'
(R):5'- CTCAATGGATTGGTTTTACTTGAGC -3'
Posted On 2014-01-05