Incidental Mutation 'R0316:Asic1'
ID 34222
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 038526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R0316 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99568249-99599011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99569819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 47 (A47T)
Ref Sequence ENSEMBL: ENSMUSP00000023758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023758]
AlphaFold Q6NXK8
Predicted Effect probably benign
Transcript: ENSMUST00000023758
AA Change: A47T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: A47T

DomainStartEndE-ValueType
Pfam:ASC 21 454 9.9e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228012
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.2%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,765 (GRCm39) F276I probably damaging Het
Ado A G 10: 67,384,548 (GRCm39) L19P possibly damaging Het
Ago2 T C 15: 73,002,725 (GRCm39) H169R probably damaging Het
Atg16l2 A T 7: 100,942,603 (GRCm39) I364N probably damaging Het
C130050O18Rik G A 5: 139,400,313 (GRCm39) R122Q probably damaging Het
Capn7 T A 14: 31,069,766 (GRCm39) C197S probably benign Het
Casp16 T C 17: 23,771,066 (GRCm39) D113G probably damaging Het
Cdh18 T A 15: 23,366,999 (GRCm39) V235D probably damaging Het
Clca4a G T 3: 144,659,525 (GRCm39) T777K probably damaging Het
Col17a1 A G 19: 47,673,972 (GRCm39) probably null Het
Col5a3 C A 9: 20,686,621 (GRCm39) D1335Y unknown Het
Cpxm1 T C 2: 130,235,091 (GRCm39) E576G probably damaging Het
Dcbld2 T C 16: 58,253,808 (GRCm39) S182P probably damaging Het
Dclk1 C T 3: 55,410,313 (GRCm39) S616L probably damaging Het
Dll4 C A 2: 119,161,634 (GRCm39) D405E probably damaging Het
Dnah1 G A 14: 31,000,108 (GRCm39) R2462C probably benign Het
Dnah3 A T 7: 119,564,882 (GRCm39) Y2594N possibly damaging Het
Ess2 G A 16: 17,727,958 (GRCm39) P103S probably benign Het
Fam110a C A 2: 151,812,006 (GRCm39) A255S probably benign Het
Fbn2 G A 18: 58,246,397 (GRCm39) R502W probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Gm1527 T C 3: 28,969,923 (GRCm39) S342P probably damaging Het
Gm19668 A T 10: 77,634,564 (GRCm39) probably benign Het
Gm5901 A T 7: 105,026,522 (GRCm39) T97S probably damaging Het
Greb1l A G 18: 10,547,420 (GRCm39) Y1546C probably damaging Het
Impg1 A T 9: 80,249,347 (GRCm39) S619T probably damaging Het
Itih2 C A 2: 10,110,057 (GRCm39) Q565H possibly damaging Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lama3 T C 18: 12,652,934 (GRCm39) M218T probably benign Het
Lipg T C 18: 75,094,012 (GRCm39) S12G probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mex3d G T 10: 80,217,505 (GRCm39) P571T probably damaging Het
Neb A C 2: 52,085,482 (GRCm39) Y1538D possibly damaging Het
Nsd1 T C 13: 55,361,584 (GRCm39) I184T probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b99 T A 19: 12,976,766 (GRCm39) C139S probably damaging Het
Or5w18 T C 2: 87,633,525 (GRCm39) F264S probably damaging Het
Pacs1 T C 19: 5,185,149 (GRCm39) silent Het
Pdcd11 T C 19: 47,101,611 (GRCm39) V932A probably damaging Het
Pkd2 A G 5: 104,625,032 (GRCm39) D276G probably damaging Het
Pkia T A 3: 7,502,499 (GRCm39) D25E probably damaging Het
Plxna2 A C 1: 194,326,458 (GRCm39) S131R probably damaging Het
Prelid1 T C 13: 55,472,220 (GRCm39) V132A possibly damaging Het
Psma3 T C 12: 71,030,163 (GRCm39) Y59H probably benign Het
Ptchd3 A C 11: 121,732,916 (GRCm39) E602A possibly damaging Het
Ptpro T C 6: 137,353,987 (GRCm39) V121A possibly damaging Het
Ptprt A G 2: 161,449,239 (GRCm39) L878P probably damaging Het
Pxn G A 5: 115,692,027 (GRCm39) G370S probably damaging Het
Rcn2 G T 9: 55,949,453 (GRCm39) A40S probably benign Het
Rnf215 A G 11: 4,089,760 (GRCm39) N258D probably damaging Het
Rnpc3 T C 3: 113,423,622 (GRCm39) T28A probably damaging Het
Rtel1 T A 2: 180,997,795 (GRCm39) V1100E possibly damaging Het
Scn3a T A 2: 65,291,173 (GRCm39) I1858F probably damaging Het
Slc9c1 G A 16: 45,400,595 (GRCm39) R735Q possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Spata13 A G 14: 60,929,788 (GRCm39) T449A probably benign Het
Svep1 A G 4: 58,072,737 (GRCm39) W2191R probably damaging Het
Thbs1 G A 2: 117,948,055 (GRCm39) R405H probably damaging Het
Tnn A G 1: 159,948,137 (GRCm39) Y859H possibly damaging Het
Tonsl A G 15: 76,513,500 (GRCm39) S1245P possibly damaging Het
Tpcn1 G A 5: 120,677,324 (GRCm39) T661M probably damaging Het
Trap1 A G 16: 3,863,424 (GRCm39) F533L probably benign Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Vax2 T C 6: 83,688,426 (GRCm39) S50P possibly damaging Het
Vmn1r5 A C 6: 56,962,784 (GRCm39) E153A probably benign Het
Vmn2r14 G T 5: 109,366,762 (GRCm39) P486Q probably benign Het
Vmn2r96 T A 17: 18,802,827 (GRCm39) F246I probably damaging Het
Zc3h10 C A 10: 128,380,624 (GRCm39) E244D probably damaging Het
Zdhhc18 T A 4: 133,340,966 (GRCm39) K265* probably null 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
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
R7587:Asic1 UTSW 15 99,593,471 (GRCm39) missense probably damaging 1.00
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'- CGCCTTCATCTCAGGACAATGACAG -3'
(R):5'- TCCCCAGCATGGTACAGGTCATTC -3'

Sequencing Primer
(F):5'- GGACAATGACAGAGTCTTGTCTCC -3'
(R):5'- ATGGTACAGGTCATTCTTGGAGAC -3'
Posted On 2013-05-09