Incidental Mutation 'R7593:Asic2'
ID 587558
Institutional Source Beutler Lab
Gene Symbol Asic2
Ensembl Gene ENSMUSG00000020704
Gene Name acid-sensing ion channel 2
Synonyms BNaC1a, Mdeg, BNC1, Accn1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7593 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 80770989-81859222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81858657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 118 (D118E)
Ref Sequence ENSEMBL: ENSMUSP00000067095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066197]
AlphaFold Q925H0
Predicted Effect probably benign
Transcript: ENSMUST00000066197
AA Change: D118E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704
AA Change: D118E

DomainStartEndE-ValueType
Pfam:ASC 20 454 3.3e-177 PFAM
low complexity region 456 472 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mechanoreceptor and spiral ganglion electrophysiology and decreased pressure-induced blood vessel constriction. Mice homozygous for a different knock-out allele exhibit retinal degeneration and abnormal eye electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,774 (GRCm39) A170V probably damaging Het
Acp6 A T 3: 97,073,266 (GRCm39) E102D probably benign Het
Acss1 T A 2: 150,461,688 (GRCm39) R632* probably null Het
Adamtsl1 G T 4: 86,259,450 (GRCm39) C832F probably damaging Het
Adgrg6 T G 10: 14,344,573 (GRCm39) M127L probably damaging Het
Alkbh1 A T 12: 87,487,095 (GRCm39) Y91* probably null Het
Arhgap35 A T 7: 16,298,786 (GRCm39) I93N probably damaging Het
Asprv1 G T 6: 86,605,762 (GRCm39) V203L probably damaging Het
Atad2b G A 12: 5,081,726 (GRCm39) D1212N probably benign Het
Atp4a A G 7: 30,424,105 (GRCm39) I960V probably benign Het
Bin1 G T 18: 32,552,932 (GRCm39) E186* probably null Het
Bmp10 A G 6: 87,410,651 (GRCm39) Y148C probably damaging Het
Ccdc152 T A 15: 3,310,137 (GRCm39) D246V probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cdh9 A T 15: 16,823,261 (GRCm39) D81V probably damaging Het
Cep162 A T 9: 87,086,250 (GRCm39) S1025T probably benign Het
Cidea A G 18: 67,493,283 (GRCm39) I101V probably benign Het
Clock G A 5: 76,384,145 (GRCm39) S478L possibly damaging Het
Cp T A 3: 20,020,494 (GRCm39) N162K probably benign Het
Crb1 C T 1: 139,164,978 (GRCm39) E1110K probably damaging Het
Cyp2b13 A T 7: 25,780,416 (GRCm39) I146L possibly damaging Het
D630045J12Rik A G 6: 38,172,429 (GRCm39) S580P possibly damaging Het
Dars2 T C 1: 160,885,113 (GRCm39) E224G probably damaging Het
Dcbld2 A G 16: 58,244,941 (GRCm39) T72A possibly damaging Het
Ddx11 A T 17: 66,433,193 (GRCm39) I8F possibly damaging Het
Dennd2d T C 3: 106,407,244 (GRCm39) F432L probably damaging Het
Dnah10 T C 5: 124,823,608 (GRCm39) V543A probably benign Het
Eef2k G A 7: 120,488,491 (GRCm39) probably null Het
Elmo1 A G 13: 20,474,610 (GRCm39) M345V probably benign Het
Ephb4 A G 5: 137,359,560 (GRCm39) M377V probably benign Het
Erbb4 C A 1: 68,293,758 (GRCm39) R711L probably damaging Het
Fads1 A G 19: 10,162,361 (GRCm39) E95G probably damaging Het
Farsa G A 8: 85,594,278 (GRCm39) probably null Het
Galntl6 A G 8: 58,230,293 (GRCm39) S42P probably damaging Het
Gga2 G A 7: 121,589,672 (GRCm39) T559M probably benign Het
Glipr1l2 G A 10: 111,928,465 (GRCm39) G120D probably damaging Het
Gm14226 A T 2: 154,866,114 (GRCm39) I24L unknown Het
Gprc5b G T 7: 118,583,492 (GRCm39) R126S probably damaging Het
Gys1 A G 7: 45,092,360 (GRCm39) D321G probably damaging Het
Hdlbp C T 1: 93,358,005 (GRCm39) A299T probably benign Het
Hic2 A G 16: 17,076,979 (GRCm39) T603A probably damaging Het
Hoxa11 A T 6: 52,220,524 (GRCm39) I253N probably damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Inpp5d T A 1: 87,645,500 (GRCm39) S1023T possibly damaging Het
Kif21a C T 15: 90,828,064 (GRCm39) A1233T probably benign Het
Kif9 A T 9: 110,350,421 (GRCm39) T771S possibly damaging Het
Klre1 T A 6: 129,560,150 (GRCm39) C141S probably damaging Het
Lats1 A G 10: 7,577,476 (GRCm39) Y200C probably damaging Het
Lgr4 T A 2: 109,829,801 (GRCm39) L247H probably damaging Het
Lrrc37a T C 11: 103,391,778 (GRCm39) K1216E probably benign Het
Lrrc41 G A 4: 115,950,141 (GRCm39) R518H possibly damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Mcm9 C T 10: 53,506,088 (GRCm39) R62H probably benign Het
Mmp10 T G 9: 7,503,154 (GRCm39) L38R probably damaging Het
Mroh8 A G 2: 157,071,867 (GRCm39) L546P probably damaging Het
Mtcl2 A T 2: 156,882,776 (GRCm39) D425E probably benign Het
Myt1 T A 2: 181,439,532 (GRCm39) D393E possibly damaging Het
Mzb1 A T 18: 35,780,901 (GRCm39) I129N probably damaging Het
Nek10 A G 14: 14,826,955 (GRCm38) D51G probably benign Het
Nme5 A G 18: 34,700,201 (GRCm39) I148T probably benign Het
Nr2e1 G A 10: 42,439,475 (GRCm39) P348L probably damaging Het
Nrp2 A G 1: 62,758,203 (GRCm39) E63G probably damaging Het
Or2d2 A T 7: 106,727,782 (GRCm39) S273T probably damaging Het
Or51ab3 A T 7: 103,200,956 (GRCm39) probably benign Het
Or52e3 A G 7: 102,869,471 (GRCm39) E182G probably damaging Het
Or52e5 A G 7: 104,718,704 (GRCm39) H10R probably benign Het
Or56a3 A G 7: 104,735,372 (GRCm39) T150A probably benign Het
Pak5 A G 2: 135,942,884 (GRCm39) S419P probably benign Het
Pfas C A 11: 68,881,921 (GRCm39) M25I Het
Prdm9 A G 17: 15,764,867 (GRCm39) S638P possibly damaging Het
Psd G A 19: 46,301,352 (GRCm39) T954I possibly damaging Het
Psph T C 5: 129,864,337 (GRCm39) probably benign Het
Ptprf A G 4: 118,069,593 (GRCm39) I1517T probably benign Het
Rassf8 A G 6: 145,761,129 (GRCm39) R152G probably benign Het
Rfx3 G A 19: 27,827,139 (GRCm39) T149I probably benign Het
Rfx8 A T 1: 39,722,838 (GRCm39) F260I probably damaging Het
Rnft1 C T 11: 86,384,023 (GRCm39) Q308* probably null Het
Rock2 A G 12: 17,008,241 (GRCm39) N528S probably benign Het
Rpp25l T C 4: 41,712,305 (GRCm39) R157G unknown Het
Ryr1 A T 7: 28,735,528 (GRCm39) N4083K probably damaging Het
Scd1 G T 19: 44,388,739 (GRCm39) T237N probably benign Het
Sema3d T C 5: 12,558,112 (GRCm39) F215L probably benign Het
Sema7a C T 9: 57,867,858 (GRCm39) T478I probably benign Het
Sftpc T C 14: 70,759,623 (GRCm39) T99A possibly damaging Het
Slc25a4 G A 8: 46,662,241 (GRCm39) T139I probably damaging Het
Snx27 T C 3: 94,410,272 (GRCm39) E468G possibly damaging Het
Snx33 T C 9: 56,834,058 (GRCm39) K4E possibly damaging Het
Soat1 A T 1: 156,268,148 (GRCm39) L253* probably null Het
Sycp2l A T 13: 41,326,192 (GRCm39) N749I probably damaging Het
Synj2bp A T 12: 81,557,664 (GRCm39) I47N probably damaging Het
Tmem82 T A 4: 141,343,605 (GRCm39) I222F probably damaging Het
Ube2o A T 11: 116,471,905 (GRCm39) L112Q possibly damaging Het
Vmn1r204 G A 13: 22,740,754 (GRCm39) W128* probably null Het
Vmn2r114 A T 17: 23,510,817 (GRCm39) Y554* probably null Het
Vmn2r62 A T 7: 42,437,213 (GRCm39) Y424N possibly damaging Het
Vmn2r70 A T 7: 85,215,312 (GRCm39) L74* probably null Het
Vmp1 T A 11: 86,477,377 (GRCm39) Y341F probably benign Het
Vps13a A T 19: 16,703,027 (GRCm39) V642D probably damaging Het
Vps33a T C 5: 123,674,619 (GRCm39) M383V probably benign Het
Vwf G A 6: 125,624,731 (GRCm39) V1827I Het
Zc3hav1 A G 6: 38,306,121 (GRCm39) Y644H probably benign Het
Zfp429 A C 13: 67,538,410 (GRCm39) C345G probably damaging Het
Zfp595 T C 13: 67,464,823 (GRCm39) H483R probably benign Het
Zfp748 G T 13: 67,690,638 (GRCm39) H207Q probably benign Het
Zfp758 T C 17: 22,593,939 (GRCm39) S142P probably damaging Het
Znfx1 A C 2: 166,898,145 (GRCm39) S260A probably benign Het
Other mutations in Asic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Asic2 APN 11 80,784,856 (GRCm39) missense probably damaging 0.99
IGL02420:Asic2 APN 11 80,772,479 (GRCm39) missense probably benign 0.05
IGL02451:Asic2 APN 11 80,782,563 (GRCm39) splice site probably benign
LCD18:Asic2 UTSW 11 80,876,570 (GRCm39) intron probably benign
R0682:Asic2 UTSW 11 80,777,506 (GRCm39) missense possibly damaging 0.67
R0718:Asic2 UTSW 11 80,862,282 (GRCm39) splice site probably benign
R0784:Asic2 UTSW 11 80,784,815 (GRCm39) missense possibly damaging 0.92
R2679:Asic2 UTSW 11 81,042,780 (GRCm39) missense probably benign 0.13
R2883:Asic2 UTSW 11 80,784,839 (GRCm39) missense possibly damaging 0.61
R2991:Asic2 UTSW 11 81,858,863 (GRCm39) missense probably benign
R4722:Asic2 UTSW 11 81,859,009 (GRCm39) start codon destroyed probably null 0.00
R4770:Asic2 UTSW 11 80,862,318 (GRCm39) missense probably benign 0.07
R4900:Asic2 UTSW 11 81,464,280 (GRCm39) intron probably benign
R5005:Asic2 UTSW 11 80,774,252 (GRCm39) missense probably damaging 1.00
R5056:Asic2 UTSW 11 80,862,429 (GRCm39) missense possibly damaging 0.64
R5344:Asic2 UTSW 11 80,862,413 (GRCm39) missense probably damaging 1.00
R5490:Asic2 UTSW 11 80,780,646 (GRCm39) missense probably benign 0.02
R5722:Asic2 UTSW 11 81,858,806 (GRCm39) missense probably benign 0.07
R6072:Asic2 UTSW 11 80,784,914 (GRCm39) missense probably damaging 0.97
R6589:Asic2 UTSW 11 80,777,430 (GRCm39) missense possibly damaging 0.79
R7068:Asic2 UTSW 11 81,043,081 (GRCm39) missense probably benign 0.01
R7226:Asic2 UTSW 11 80,862,340 (GRCm39) missense probably damaging 1.00
R7869:Asic2 UTSW 11 81,858,824 (GRCm39) missense probably damaging 1.00
R8747:Asic2 UTSW 11 81,043,233 (GRCm39) missense possibly damaging 0.46
R8772:Asic2 UTSW 11 81,858,713 (GRCm39) missense probably benign 0.20
R8821:Asic2 UTSW 11 81,858,726 (GRCm39) missense probably damaging 1.00
R8831:Asic2 UTSW 11 81,858,726 (GRCm39) missense probably damaging 1.00
R8989:Asic2 UTSW 11 81,043,180 (GRCm39) missense probably benign 0.01
R9155:Asic2 UTSW 11 80,784,872 (GRCm39) missense probably benign 0.00
R9188:Asic2 UTSW 11 81,042,738 (GRCm39) missense probably benign 0.00
Z1176:Asic2 UTSW 11 81,858,496 (GRCm39) missense probably benign 0.05
Z1176:Asic2 UTSW 11 80,780,658 (GRCm39) missense possibly damaging 0.55
Z1177:Asic2 UTSW 11 81,043,066 (GRCm39) missense possibly damaging 0.94
Z1177:Asic2 UTSW 11 81,042,916 (GRCm39) missense probably benign 0.00
Z1177:Asic2 UTSW 11 80,784,837 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CCTTGAACTTGCAGTAGAGCATC -3'
(R):5'- CACATCTTCGTGTATGGGCC -3'

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