Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Asic2'

376107

Institutional Source

Beutler Lab

Gene Symbol

Asic2

Ensembl Gene

ENSMUSG00000020704

Gene Name

acid-sensing ion channel 2

Synonyms

BNaC1a, Mdeg, BNC1, Accn1

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80770989-81859222 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 81464280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066197]

AlphaFold

Q925H0

Predicted Effect

probably benign
Transcript: ENSMUST00000066197

SMART Domains

Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704

Domain	Start	End	E-Value	Type
Pfam:ASC	20	454	3.3e-177	PFAM
low complexity region	456	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117522

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
Abtb2	A	G	2: 103,397,349 (GRCm39)	E93G	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Adgrb2	T	A	4: 129,907,668 (GRCm39)	Y1001N	probably damaging	Het
Aox1	T	G	1: 58,344,544 (GRCm39)	S546A	probably benign	Het
Bcl11b	T	A	12: 107,955,957 (GRCm39)	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,350,177 (GRCm39)	F556S	possibly damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdh11	C	T	8: 103,374,090 (GRCm39)		probably null	Het
Ces2g	C	T	8: 105,693,989 (GRCm39)	Q442*	probably null	Het
Cps1	A	T	1: 67,200,063 (GRCm39)	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,170,174 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,346,318 (GRCm39)	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 26,730,640 (GRCm39)	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Cyp2j13	G	A	4: 95,947,280 (GRCm39)	T257I	probably damaging	Het
Dnah8	T	A	17: 30,965,949 (GRCm39)	L2427Q	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Flvcr2	T	A	12: 85,829,756 (GRCm39)	V255D	probably damaging	Het
Galc	G	T	12: 98,197,731 (GRCm39)	T326K	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,291,561 (GRCm39)	Y808N	probably benign	Het
Glis1	C	T	4: 107,476,761 (GRCm39)	A306V	probably damaging	Het
Gm10638	A	G	8: 87,473,028 (GRCm39)		probably benign	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gm27048	C	T	8: 81,661,228 (GRCm39)		noncoding transcript	Het
Gm4204	T	C	1: 135,160,556 (GRCm39)		noncoding transcript	Het
Gm904	A	T	13: 50,799,325 (GRCm39)	I95F	possibly damaging	Het
Gvin3	T	G	7: 106,197,793 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ints11	G	A	4: 155,972,887 (GRCm39)	D526N	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,512,221 (GRCm39)	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,867,259 (GRCm39)	S795P	probably damaging	Het
Lhx8	G	T	3: 154,035,925 (GRCm39)	A22E	probably benign	Het
Lrp8	A	G	4: 107,664,006 (GRCm39)		probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Lvrn	T	C	18: 47,014,479 (GRCm39)	S526P	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,070,647 (GRCm39)	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,440,503 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,303,280 (GRCm39)	F99S	probably benign	Het
Myo5c	T	A	9: 75,180,825 (GRCm39)	I738N	probably damaging	Het
Naip6	A	C	13: 100,433,477 (GRCm39)	V1120G	probably damaging	Het
Ncl	T	C	1: 86,283,901 (GRCm39)	T307A	probably benign	Het
Npr1	A	T	3: 90,363,272 (GRCm39)	D869E	possibly damaging	Het
Nup93	A	G	8: 95,013,231 (GRCm39)	T36A	probably benign	Het
Olfml2b	C	A	1: 170,489,947 (GRCm39)	T189N	probably damaging	Het
Or4c12b	A	G	2: 89,647,312 (GRCm39)	N208S	possibly damaging	Het
Or8b9	T	C	9: 37,766,608 (GRCm39)	F165L	probably benign	Het
P4htm	A	C	9: 108,456,427 (GRCm39)	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,668,638 (GRCm39)	R930L	probably damaging	Het
Pgam5	G	A	5: 110,408,301 (GRCm39)	A240V	probably damaging	Het
Prex2	T	C	1: 11,220,129 (GRCm39)		probably benign	Het
Ptpru	T	G	4: 131,515,693 (GRCm39)	E897A	probably damaging	Het
Rapgef2	A	T	3: 78,981,670 (GRCm39)	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,210,439 (GRCm39)	E64G	probably benign	Het
Sel1l3	A	T	5: 53,289,184 (GRCm39)	L879Q	probably damaging	Het
Siah1a	G	T	8: 87,451,703 (GRCm39)	D260E	probably benign	Het
Skint6	T	C	4: 112,924,667 (GRCm39)	I522V	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Smok3c	T	C	5: 138,062,813 (GRCm39)	I100T	probably damaging	Het
Snx24	C	A	18: 53,518,295 (GRCm39)	Y141*	probably null	Het
Tigit	A	G	16: 43,469,594 (GRCm39)	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,275,904 (GRCm39)	R324Q	probably benign	Het
Tmie	T	C	9: 110,696,001 (GRCm39)	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Vmn2r111	T	C	17: 22,767,637 (GRCm39)	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,240,852 (GRCm39)	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,404,605 (GRCm39)	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,821,819 (GRCm39)	D60G	possibly damaging	Het

Other mutations in Asic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7593:Asic2	UTSW	11	81,858,657 (GRCm39)	missense	probably benign	0.01
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'- ACTGGTTTCTGTACCCAAGGG -3'
(R):5'- AAACCCTGATTTCTGCTTTCATGTG -3'

Sequencing Primer
(F):5'- GATGAGAAAGTGAGTCCCTTCCC -3'
(R):5'- GATTTCTGCTTTCATGTGTGCCTCTG -3'

Posted On

2016-03-17