Incidental Mutation 'R9542:Asic5'
ID 719919
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9542 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 81889600-81928540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81911850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 149 (T149S)
Ref Sequence ENSEMBL: ENSMUSP00000029641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029641] [ENSMUST00000107736]
AlphaFold Q9R0Y1
Predicted Effect probably benign
Transcript: ENSMUST00000029641
AA Change: T149S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: T149S

DomainStartEndE-ValueType
Pfam:ASC 41 466 3.5e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107736
AA Change: T107S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: T107S

DomainStartEndE-ValueType
Pfam:ASC 1 425 5.5e-110 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 T C 1: 155,443,356 (GRCm39) S105P probably benign Het
Acot12 G A 13: 91,931,110 (GRCm39) V453M probably damaging Het
Actr2 C T 11: 20,044,350 (GRCm39) M85I probably benign Het
Anxa9 T C 3: 95,210,379 (GRCm39) D62G probably benign Het
Arnt C T 3: 95,397,954 (GRCm39) A599V probably benign Het
Ash1l A G 3: 88,950,566 (GRCm39) E2153G probably damaging Het
Atcay G A 10: 81,043,686 (GRCm39) T353I unknown Het
Aven T C 2: 112,455,517 (GRCm39) F143L probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
BC024139 T A 15: 76,009,715 (GRCm39) L149F probably damaging Het
C3 T C 17: 57,532,037 (GRCm39) Y228C probably damaging Het
Cacna1d A G 14: 29,845,316 (GRCm39) F640L probably benign Het
Ccdc187 T C 2: 26,145,930 (GRCm39) R1220G possibly damaging Het
Cdc42bpb G A 12: 111,268,508 (GRCm39) Q1231* probably null Het
Cdh20 T A 1: 104,875,067 (GRCm39) V283E probably damaging Het
Cep63 T C 9: 102,484,533 (GRCm39) I241V probably benign Het
Dis3 A G 14: 99,316,975 (GRCm39) V787A probably damaging Het
Dock9 A G 14: 121,864,775 (GRCm39) F727S probably damaging Het
Eif5b G T 1: 38,057,131 (GRCm39) E63* probably null Het
Fanca A G 8: 124,023,078 (GRCm39) V553A probably damaging Het
Flacc1 C T 1: 58,717,504 (GRCm39) A136T probably benign Het
Gm37240 A C 3: 84,417,196 (GRCm39) H174Q probably benign Het
Kcnc4 C T 3: 107,365,571 (GRCm39) W212* probably null Het
Myh2 G A 11: 67,072,002 (GRCm39) E577K possibly damaging Het
Ncoa1 C T 12: 4,325,178 (GRCm39) V967I possibly damaging Het
Nmur2 T C 11: 55,931,649 (GRCm39) T21A probably damaging Het
Nrde2 A G 12: 100,110,426 (GRCm39) C197R probably damaging Het
Or2m12 A T 16: 19,104,943 (GRCm39) D183E probably benign Het
Or2o1 C A 11: 49,051,073 (GRCm39) C77* probably null Het
Or52ad1 T C 7: 102,995,569 (GRCm39) I189V probably benign Het
Or8h7 G T 2: 86,720,813 (GRCm39) H235Q probably benign Het
Pard3b C T 1: 62,250,786 (GRCm39) R572* probably null Het
Pdcd6ip T C 9: 113,520,589 (GRCm39) S132G probably damaging Het
Pdzrn3 A T 6: 101,149,235 (GRCm39) F364L probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pgr G T 9: 8,901,532 (GRCm39) C355F possibly damaging Het
Pkhd1 T G 1: 20,188,004 (GRCm39) S3435R probably damaging Het
Pkhd1l1 A G 15: 44,410,284 (GRCm39) D2597G probably benign Het
Pramel30 T C 4: 144,057,095 (GRCm39) Y93H possibly damaging Het
Prrc2c T C 1: 162,508,359 (GRCm39) E2410G possibly damaging Het
Rpap2 C G 5: 107,768,180 (GRCm39) S339R probably benign Het
Rrp36 G C 17: 46,983,492 (GRCm39) R69G possibly damaging Het
Rrp8 T C 7: 105,382,606 (GRCm39) T449A probably benign Het
Scn3a T C 2: 65,366,860 (GRCm39) D54G probably damaging Het
Serinc2 C T 4: 130,152,516 (GRCm39) W228* probably null Het
Serpinb9g A G 13: 33,679,141 (GRCm39) K337R probably benign Het
Slc28a2b A T 2: 122,324,822 (GRCm39) K131N probably benign Het
Spata31 A T 13: 65,070,077 (GRCm39) I742F probably damaging Het
Speg C T 1: 75,399,426 (GRCm39) P2291L probably benign Het
Ss18l2 T A 9: 121,541,666 (GRCm39) L61* probably null Het
Suco C T 1: 161,661,668 (GRCm39) R921H probably damaging Het
Taok2 A T 7: 126,466,008 (GRCm39) I910N probably damaging Het
Tmem18 G A 12: 30,638,557 (GRCm39) M106I Het
Tob1 T G 11: 94,105,234 (GRCm39) S257A unknown Het
Trim67 G C 8: 125,521,497 (GRCm39) K286N possibly damaging Het
Trmt112 A G 19: 6,887,956 (GRCm39) N62S probably benign Het
Tsc2 C T 17: 24,819,308 (GRCm39) probably null Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ube2j1 G T 4: 33,040,793 (GRCm39) E100* probably null Het
Urgcp A T 11: 5,667,517 (GRCm39) F317I possibly damaging Het
Vps9d1 A T 8: 123,970,522 (GRCm39) D588E probably damaging Het
Wdr38 A T 2: 38,890,210 (GRCm39) T115S probably damaging Het
Zfp119a G A 17: 56,172,593 (GRCm39) Q417* probably null Het
Zfp687 C T 3: 94,916,442 (GRCm39) C860Y probably damaging Het
Zmym4 T C 4: 126,799,164 (GRCm39) N724S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CACAATGCACAGTGGAAATTGC -3'
(R):5'- CTCAATGGATTGGTTTTACTTGAGC -3'

Sequencing Primer
(F):5'- TGCACAGTGGAAATTGCTTAAC -3'
(R):5'- TACTTGAGCATAAAACAGAACGAAGC -3'
Posted On 2022-07-18