Incidental Mutation 'R7587:Asic1'
ID 587230
Institutional Source Beutler Lab
Gene Symbol Asic1
Ensembl Gene ENSMUSG00000023017
Gene Name acid-sensing ion channel 1
Synonyms B530003N02Rik, ASIC1 beta, Accn2, ASIC1b, ASIC, ASIC1a, BNaC2, ASICalpha
MMRRC Submission 045712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R7587 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99568249-99599011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99593471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 276 (Q276P)
Ref Sequence ENSEMBL: ENSMUSP00000023758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000228185]
AlphaFold Q6NXK8
Predicted Effect probably damaging
Transcript: ENSMUST00000023758
AA Change: Q276P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: Q276P

DomainStartEndE-ValueType
Pfam:ASC 21 454 9.9e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000228185
AA Change: Q309P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (63/63)
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 acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in absence of H+-gated currents in hippocampal neurons, impaired long term potentiation, reduced excitatory postsynaptic potentials, and defective spatial learning and eye blink conditioning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,585,736 (GRCm39) T131A probably damaging Het
Asah1 A T 8: 41,827,578 (GRCm39) V15D probably benign Het
Atl2 A T 17: 80,172,496 (GRCm39) V158E probably benign Het
Atrn T A 2: 130,822,034 (GRCm39) I909N probably damaging Het
BC034090 A G 1: 155,093,232 (GRCm39) V742A probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cdh20 T C 1: 104,869,004 (GRCm39) F165S probably damaging Het
Cfap44 A G 16: 44,224,469 (GRCm39) E59G probably benign Het
Clpsl2 G A 17: 28,768,515 (GRCm39) V10I probably benign Het
D630003M21Rik T A 2: 158,042,976 (GRCm39) S855C probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
D6Wsu163e A G 6: 126,932,859 (GRCm39) I361V probably benign Het
Dchs2 A G 3: 83,211,822 (GRCm39) I1874V probably benign Het
Dennd2a T G 6: 39,460,069 (GRCm39) K679Q probably damaging Het
Dio2 A G 12: 90,696,334 (GRCm39) V218A probably benign Het
Gpr107 A T 2: 31,058,838 (GRCm39) K109N probably benign Het
Gpr108 C T 17: 57,543,732 (GRCm39) R448Q probably damaging Het
Gucy2c A G 6: 136,681,288 (GRCm39) V932A probably damaging Het
Kcnj8 T C 6: 142,512,065 (GRCm39) T181A probably damaging Het
Kdm3b A G 18: 34,930,080 (GRCm39) probably null Het
Lipc A G 9: 70,726,206 (GRCm39) Y168H probably damaging Het
Lipi C T 16: 75,347,103 (GRCm39) V439M probably benign Het
Lpp A T 16: 24,581,029 (GRCm39) probably null Het
Lrp1b T G 2: 40,620,729 (GRCm39) D3583A Het
Ltbr T C 6: 125,289,315 (GRCm39) T165A probably benign Het
Mroh3 A G 1: 136,118,736 (GRCm39) I527T probably benign Het
Mylk A G 16: 34,742,887 (GRCm39) E1133G probably benign Het
Nat3 T C 8: 68,000,226 (GRCm39) I35T probably damaging Het
Ncbp3 T C 11: 72,957,591 (GRCm39) probably null Het
Nedd1 G A 10: 92,534,592 (GRCm39) T306M probably benign Het
Nexn T C 3: 151,952,815 (GRCm39) R316G probably benign Het
Nox4 A G 7: 86,966,510 (GRCm39) H207R probably damaging Het
Nsun6 T C 2: 15,044,636 (GRCm39) Q110R probably benign Het
Or1e1b-ps1 C T 11: 73,846,010 (GRCm39) Q165* probably null Het
Or52n2c C T 7: 104,574,263 (GRCm39) R236H probably benign Het
Or7g32 T A 9: 19,408,818 (GRCm39) V258E probably damaging Het
Pappa2 T C 1: 158,678,701 (GRCm39) D905G probably damaging Het
Pepd T C 7: 34,668,965 (GRCm39) L195S probably damaging Het
Pms1 A G 1: 53,246,475 (GRCm39) S355P probably benign Het
Pop1 A T 15: 34,502,559 (GRCm39) K82M probably damaging Het
Ppp1r9b T A 11: 94,892,766 (GRCm39) D655E possibly damaging Het
Ppt2 A G 17: 34,845,777 (GRCm39) probably null Het
Pramel57 A G 5: 95,669,270 (GRCm39) T100A probably damaging Het
Prss35 T A 9: 86,637,427 (GRCm39) C66S probably damaging Het
Rfc3 A T 5: 151,574,616 (GRCm39) M1K probably null Het
Rffl T C 11: 82,700,974 (GRCm39) D284G probably damaging Het
Robo3 T C 9: 37,340,942 (GRCm39) D110G probably damaging Het
Rtel1 G A 2: 180,964,108 (GRCm39) V36M probably damaging Het
Slc1a7 T A 4: 107,867,683 (GRCm39) I457K possibly damaging Het
Smco1 A G 16: 32,092,541 (GRCm39) M71V probably benign Het
Snrnp200 G A 2: 127,069,822 (GRCm39) S989N probably damaging Het
Spef2 T A 15: 9,713,305 (GRCm39) I356F probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Tada2b T C 5: 36,634,111 (GRCm39) I156V probably benign Het
Tasor2 T C 13: 3,618,849 (GRCm39) K2251E possibly damaging Het
Tbce C T 13: 14,194,327 (GRCm39) V111M probably damaging Het
Tlnrd1 A G 7: 83,532,155 (GRCm39) L92P probably damaging Het
Tnr T A 1: 159,713,778 (GRCm39) D735E probably benign Het
Tram1 T C 1: 13,649,771 (GRCm39) H110R probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Unc5b C T 10: 60,618,899 (GRCm39) C81Y probably damaging Het
Vps13a G A 19: 16,681,153 (GRCm39) T1041M probably benign Het
Other mutations in Asic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Asic1 APN 15 99,569,998 (GRCm39) missense probably damaging 0.99
IGL01418:Asic1 APN 15 99,569,998 (GRCm39) missense probably damaging 0.99
IGL01718:Asic1 APN 15 99,569,883 (GRCm39) missense probably damaging 1.00
IGL01941:Asic1 APN 15 99,596,982 (GRCm39) missense possibly damaging 0.95
IGL01993:Asic1 APN 15 99,595,353 (GRCm39) missense probably benign 0.01
IGL02097:Asic1 APN 15 99,592,567 (GRCm39) splice site probably benign
IGL03028:Asic1 APN 15 99,570,038 (GRCm39) missense probably benign 0.03
IGL03082:Asic1 APN 15 99,594,428 (GRCm39) missense probably benign
IGL03183:Asic1 APN 15 99,569,898 (GRCm39) missense probably benign 0.43
IGL03231:Asic1 APN 15 99,596,983 (GRCm39) missense probably benign 0.42
R0111:Asic1 UTSW 15 99,594,864 (GRCm39) missense probably damaging 1.00
R0243:Asic1 UTSW 15 99,596,498 (GRCm39) unclassified probably benign
R0316:Asic1 UTSW 15 99,569,819 (GRCm39) missense probably benign 0.03
R0518:Asic1 UTSW 15 99,596,700 (GRCm39) missense probably damaging 1.00
R0520:Asic1 UTSW 15 99,593,416 (GRCm39) missense probably damaging 1.00
R0521:Asic1 UTSW 15 99,596,700 (GRCm39) missense probably damaging 1.00
R0610:Asic1 UTSW 15 99,596,780 (GRCm39) missense probably benign 0.14
R1034:Asic1 UTSW 15 99,595,939 (GRCm39) missense probably damaging 1.00
R1666:Asic1 UTSW 15 99,597,006 (GRCm39) missense probably damaging 1.00
R1796:Asic1 UTSW 15 99,594,535 (GRCm39) missense probably null 0.99
R1993:Asic1 UTSW 15 99,569,765 (GRCm39) missense probably damaging 1.00
R2130:Asic1 UTSW 15 99,569,756 (GRCm39) missense possibly damaging 0.73
R2180:Asic1 UTSW 15 99,569,846 (GRCm39) missense probably benign
R2895:Asic1 UTSW 15 99,594,483 (GRCm39) missense probably benign 0.22
R3793:Asic1 UTSW 15 99,569,906 (GRCm39) nonsense probably null
R3848:Asic1 UTSW 15 99,570,814 (GRCm39) missense probably benign 0.01
R5115:Asic1 UTSW 15 99,569,933 (GRCm39) missense probably damaging 0.97
R5186:Asic1 UTSW 15 99,596,684 (GRCm39) unclassified probably benign
R5187:Asic1 UTSW 15 99,596,684 (GRCm39) unclassified probably benign
R5409:Asic1 UTSW 15 99,596,684 (GRCm39) unclassified probably benign
R6011:Asic1 UTSW 15 99,596,960 (GRCm39) missense probably benign 0.05
R6383:Asic1 UTSW 15 99,596,761 (GRCm39) missense probably damaging 0.96
R7133:Asic1 UTSW 15 99,569,968 (GRCm39) missense probably damaging 1.00
R7255:Asic1 UTSW 15 99,595,338 (GRCm39) missense probably damaging 0.97
R8012:Asic1 UTSW 15 99,594,532 (GRCm39) missense possibly damaging 0.92
R8030:Asic1 UTSW 15 99,592,722 (GRCm39) missense possibly damaging 0.56
R8089:Asic1 UTSW 15 99,595,968 (GRCm39) missense probably damaging 1.00
R8919:Asic1 UTSW 15 99,569,826 (GRCm39) missense probably benign 0.40
R9417:Asic1 UTSW 15 99,590,405 (GRCm39) missense probably benign
R9534:Asic1 UTSW 15 99,594,397 (GRCm39) missense probably benign 0.01
R9646:Asic1 UTSW 15 99,593,414 (GRCm39) missense probably benign 0.17
R9717:Asic1 UTSW 15 99,590,657 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCCCCAGGTTCCGGA -3'
(R):5'- CCATTCTTGATCACCCACCA -3'

Sequencing Primer
(F):5'- AGACGATTAAGGACTCAGAAATCCTC -3'
(R):5'- TCACTGGCCAGCTTCAAGGATC -3'
Posted On 2019-10-24