Incidental Mutation 'R7956:Asic3'
ID 649807
Institutional Source Beutler Lab
Gene Symbol Asic3
Ensembl Gene ENSMUSG00000038276
Gene Name acid-sensing ion channel 3
Synonyms Accn3, DRASIC
MMRRC Submission 046000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7956 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 24618449-24622836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24621975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 412 (I412L)
Ref Sequence ENSEMBL: ENSMUSP00000143083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000196296] [ENSMUST00000198990]
AlphaFold Q6X1Y6
Predicted Effect probably benign
Transcript: ENSMUST00000030814
SMART Domains Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
S_TKc 4 286 6.11e-101 SMART
Predicted Effect silent
Transcript: ENSMUST00000049346
SMART Domains Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276

DomainStartEndE-ValueType
Pfam:ASC 21 458 2.5e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196296
AA Change: I412L

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: I412L

DomainStartEndE-ValueType
Pfam:ASC 21 459 4e-155 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000198990
SMART Domains Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
Pfam:Pkinase 4 101 9.7e-23 PFAM
Pfam:Pkinase_Tyr 4 102 2.7e-13 PFAM
Pfam:Pkinase 97 254 6.6e-30 PFAM
Pfam:Pkinase_Tyr 102 200 9.4e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced latency to onset of pain responses, increased sensitivity to light touch, but decreased sensitivity to noxious pinch and responses of acid- and noxious heat-sensitive nociceptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,834,963 (GRCm39) S332G possibly damaging Het
Acaca A T 11: 84,211,406 (GRCm39) N1573Y probably damaging Het
Arhgef33 A G 17: 80,662,477 (GRCm39) K220R possibly damaging Het
Arsj A T 3: 126,232,151 (GRCm39) D299V probably damaging Het
AU018091 A T 7: 3,211,095 (GRCm39) L278Q probably benign Het
Baat A T 4: 49,490,117 (GRCm39) F322L probably damaging Het
Bap1 A G 14: 30,977,525 (GRCm39) Q280R probably benign Het
Bet1 T C 6: 4,079,965 (GRCm39) E66G probably benign Het
Brpf1 T C 6: 113,297,493 (GRCm39) S1000P probably benign Het
Ccdc78 A T 17: 26,006,091 (GRCm39) E86D possibly damaging Het
Ccdc88a T G 11: 29,413,892 (GRCm39) L810R probably damaging Het
Cd209f T C 8: 4,154,859 (GRCm39) T80A probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Cldn15 T C 5: 137,003,504 (GRCm39) S169P probably damaging Het
Cmklr2 T C 1: 63,222,665 (GRCm39) N190S probably damaging Het
Corin A G 5: 72,579,530 (GRCm39) S281P probably damaging Het
Coro1a A G 7: 126,300,727 (GRCm39) V200A probably benign Het
Crebrf C G 17: 26,961,631 (GRCm39) P243A probably benign Het
Cxxc1 T G 18: 74,352,054 (GRCm39) probably null Het
Dera C T 6: 137,813,826 (GRCm39) T282M probably benign Het
Dnah12 A T 14: 26,430,427 (GRCm39) D345V probably damaging Het
Dop1b T C 16: 93,567,916 (GRCm39) probably null Het
Dst T A 1: 34,264,699 (GRCm39) V2623E probably damaging Het
Dysf T C 6: 83,985,978 (GRCm39) F28L probably benign Het
Eogt C A 6: 97,120,926 (GRCm39) V96F probably benign Het
Exoc1 A T 5: 76,705,704 (GRCm39) T464S probably benign Het
Fam234a A G 17: 26,435,551 (GRCm39) Y278H probably damaging Het
Gatd3a T C 10: 77,999,405 (GRCm39) probably null Het
Gne T A 4: 44,044,962 (GRCm39) I391L probably benign Het
Gpr22 G T 12: 31,759,219 (GRCm39) T301K possibly damaging Het
Gria1 A G 11: 57,080,626 (GRCm39) D203G possibly damaging Het
Grin2c T C 11: 115,140,974 (GRCm39) E1048G probably benign Het
Hcn4 A G 9: 58,751,456 (GRCm39) T361A unknown Het
Herc2 T C 7: 55,763,148 (GRCm39) S918P probably damaging Het
Hr A G 14: 70,797,327 (GRCm39) E520G probably benign Het
Idi1 T G 13: 8,937,996 (GRCm39) S147R possibly damaging Het
Irf9 G A 14: 55,846,481 (GRCm39) G464E probably benign Het
Kif16b T C 2: 142,704,390 (GRCm39) Y63C probably benign Het
Klhl31 A T 9: 77,557,903 (GRCm39) E206D probably benign Het
Lrch3 A G 16: 32,806,377 (GRCm39) M454V probably null Het
Lrp1b A C 2: 41,172,161 (GRCm39) probably null Het
Lyst A G 13: 13,815,788 (GRCm39) D1224G possibly damaging Het
Maf1 T A 15: 76,236,696 (GRCm39) F9L probably benign Het
Mllt10 T A 2: 18,175,068 (GRCm39) I542N probably benign Het
Mrpl19 T C 6: 81,940,962 (GRCm39) N143S probably benign Het
Myo5c A G 9: 75,159,845 (GRCm39) N291S probably benign Het
Myocd G T 11: 65,160,494 (GRCm39) L11M possibly damaging Het
Or2ag2 G A 7: 106,485,178 (GRCm39) T282I possibly damaging Het
Or5ac20 C A 16: 59,104,856 (GRCm39) M1I probably null Het
Or5an10 A C 19: 12,275,666 (GRCm39) F277V probably damaging Het
Otogl T C 10: 107,713,887 (GRCm39) I511V possibly damaging Het
Phf19 T C 2: 34,796,567 (GRCm39) Y121C possibly damaging Het
Pik3c2a T C 7: 115,949,350 (GRCm39) T1346A probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Polr2b A G 5: 77,468,092 (GRCm39) T131A probably benign Het
Pom121 T C 5: 135,412,815 (GRCm39) T456A unknown Het
Pom121l2 T C 13: 22,167,316 (GRCm39) L529S probably damaging Het
Prss34 A G 17: 25,518,553 (GRCm39) I214V probably benign Het
Prss42 A G 9: 110,628,402 (GRCm39) Y182C probably damaging Het
Rapgef1 A G 2: 29,589,027 (GRCm39) I223V probably benign Het
Rbbp6 C T 7: 122,600,561 (GRCm39) P1523S unknown Het
Ripk1 T G 13: 34,193,666 (GRCm39) N9K probably benign Het
Six4 A G 12: 73,150,535 (GRCm39) L670S possibly damaging Het
Skint6 C T 4: 112,703,894 (GRCm39) D994N possibly damaging Het
Slc18a1 T C 8: 69,491,466 (GRCm39) D516G probably benign Het
Slc35g3 A T 11: 69,651,623 (GRCm39) Y121N probably damaging Het
Slc41a1 T G 1: 131,771,766 (GRCm39) S393R possibly damaging Het
Smg7 T C 1: 152,719,953 (GRCm39) H818R probably benign Het
Sorl1 A G 9: 41,900,655 (GRCm39) Y1686H probably damaging Het
Stab1 G T 14: 30,881,981 (GRCm39) T521K probably benign Het
Stard9 T A 2: 120,535,852 (GRCm39) Y4036* probably null Het
Tek T G 4: 94,687,580 (GRCm39) probably null Het
Tex35 C T 1: 156,927,742 (GRCm39) D143N probably damaging Het
Tgm1 T A 14: 55,946,352 (GRCm39) H428L probably benign Het
Tigd3 G A 19: 5,942,594 (GRCm39) P179S possibly damaging Het
Tnip3 T A 6: 65,591,779 (GRCm39) probably null Het
Ttc1 A G 11: 43,627,240 (GRCm39) probably null Het
Utp20 C T 10: 88,618,476 (GRCm39) E1175K probably benign Het
Vmn1r151 A T 7: 22,199,085 (GRCm39) S7T possibly damaging Het
Vmn1r34 T A 6: 66,614,777 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,605,166 (GRCm39) M494K probably benign Het
Vps26c T C 16: 94,302,505 (GRCm39) N234D probably damaging Het
Vsig10l T C 7: 43,117,494 (GRCm39) S594P probably benign Het
Zfp937 A G 2: 150,081,076 (GRCm39) S369G probably benign Het
Other mutations in Asic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Asic3 APN 5 24,622,719 (GRCm39) missense probably benign 0.44
IGL02527:Asic3 APN 5 24,621,275 (GRCm39) missense probably benign 0.00
IGL02869:Asic3 APN 5 24,621,972 (GRCm39) nonsense probably null
E0370:Asic3 UTSW 5 24,618,985 (GRCm39) missense probably damaging 1.00
IGL03047:Asic3 UTSW 5 24,618,788 (GRCm39) missense probably benign
R0011:Asic3 UTSW 5 24,622,490 (GRCm39) unclassified probably benign
R0011:Asic3 UTSW 5 24,622,490 (GRCm39) unclassified probably benign
R0245:Asic3 UTSW 5 24,618,836 (GRCm39) missense probably damaging 1.00
R0270:Asic3 UTSW 5 24,622,700 (GRCm39) missense probably benign 0.01
R1464:Asic3 UTSW 5 24,618,819 (GRCm39) missense probably damaging 1.00
R1464:Asic3 UTSW 5 24,618,819 (GRCm39) missense probably damaging 1.00
R1702:Asic3 UTSW 5 24,620,454 (GRCm39) missense probably damaging 1.00
R1824:Asic3 UTSW 5 24,618,749 (GRCm39) nonsense probably null
R3403:Asic3 UTSW 5 24,621,985 (GRCm39) missense probably damaging 1.00
R3722:Asic3 UTSW 5 24,621,997 (GRCm39) missense probably benign 0.08
R4383:Asic3 UTSW 5 24,618,932 (GRCm39) missense probably damaging 1.00
R4573:Asic3 UTSW 5 24,622,190 (GRCm39) missense probably damaging 1.00
R4794:Asic3 UTSW 5 24,620,895 (GRCm39) missense probably damaging 0.96
R6701:Asic3 UTSW 5 24,619,127 (GRCm39) missense possibly damaging 0.65
R7154:Asic3 UTSW 5 24,618,660 (GRCm39) unclassified probably benign
R7569:Asic3 UTSW 5 24,619,046 (GRCm39) missense probably benign 0.00
R9233:Asic3 UTSW 5 24,618,837 (GRCm39) missense probably damaging 1.00
R9564:Asic3 UTSW 5 24,620,875 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- AACAGGTTCTGGGACTTGGG -3'
(R):5'- CTCACAGAGGTAGTCGAGGATCTC -3'

Sequencing Primer
(F):5'- GACTTGGGCAAACTGCTTAAAC -3'
(R):5'- AGGCTGGCTCCGATAAACAGTC -3'
Posted On 2020-09-15