Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Asic2'

695324

Institutional Source

Beutler Lab

Gene Symbol

Asic2

Ensembl Gene

ENSMUSG00000020704

Gene Name

acid-sensing ion channel 2

Synonyms

BNaC1a, Mdeg, BNC1, Accn1

MMRRC Submission

068941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80770989-81859222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80784872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 356 (T356S)

Ref Sequence

ENSEMBL: ENSMUSP00000021045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021045] [ENSMUST00000066197]

AlphaFold

Q925H0

Predicted Effect

probably benign
Transcript: ENSMUST00000021045
AA Change: T356S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021045
Gene: ENSMUSG00000020704
AA Change: T356S

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
Pfam:ASC	61	504	6.7e-94	PFAM
low complexity region	507	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066197
AA Change: T305S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000067095
Gene: ENSMUSG00000020704
AA Change: T305S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,691,811 (GRCm39)	E34G	probably damaging	Het
Aldh1a3	A	T	7: 66,058,867 (GRCm39)	L157*	probably null	Het
Ate1	T	C	7: 129,996,463 (GRCm39)	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,350,423 (GRCm39)	Q474L		Het
Calhm6	T	C	10: 34,002,363 (GRCm39)	E240G	probably damaging	Het
Carf	C	A	1: 60,189,842 (GRCm39)	T689K	possibly damaging	Het
Carmil2	A	G	8: 106,412,922 (GRCm39)	D6G	probably benign	Het
Ccnd2	A	C	6: 127,127,663 (GRCm39)	V25G	probably damaging	Het
Ccnk	T	A	12: 108,159,978 (GRCm39)	F153L	probably damaging	Het
Cdh23	C	T	10: 60,249,485 (GRCm39)	G808E	probably damaging	Het
Clec11a	C	T	7: 43,954,317 (GRCm39)	R212Q	probably damaging	Het
Cog4	T	C	8: 111,608,384 (GRCm39)	W749R	probably damaging	Het
Col6a3	T	A	1: 90,738,301 (GRCm39)	T1073S	probably benign	Het
Col6a4	T	A	9: 105,952,209 (GRCm39)	D563V	probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crebbp	A	C	16: 3,914,346 (GRCm39)	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,449,051 (GRCm39)	G2737W		Het
Ddrgk1	T	C	2: 130,500,227 (GRCm39)	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,373,796 (GRCm39)	Q589R	probably benign	Het
Dnah10	A	G	5: 124,907,475 (GRCm39)	D4336G	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,938 (GRCm39)	Q140L	possibly damaging	Het
Ergic3	A	G	2: 155,850,780 (GRCm39)	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,329,497 (GRCm39)	S421T	probably benign	Het
Fndc3a	T	A	14: 72,921,162 (GRCm39)	H4L	possibly damaging	Het
Gid8	T	A	2: 180,359,756 (GRCm39)	Y213*	probably null	Het
Hephl1	G	T	9: 15,000,375 (GRCm39)	H292Q	probably damaging	Het
Hexb	T	C	13: 97,314,414 (GRCm39)	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,746,788 (GRCm39)	R168H	probably benign	Het
Hus1	A	G	11: 8,956,056 (GRCm39)	I159T	probably damaging	Het
Inha	A	G	1: 75,486,133 (GRCm39)	T143A	probably benign	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Itgae	G	T	11: 73,016,089 (GRCm39)	C766F	possibly damaging	Het
Kank4	T	C	4: 98,666,563 (GRCm39)	E628G	probably benign	Het
Kctd19	T	C	8: 106,120,571 (GRCm39)	H221R	probably benign	Het
Llgl1	A	G	11: 60,597,934 (GRCm39)	E351G	probably benign	Het
Lrba	A	G	3: 86,202,508 (GRCm39)	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,291,713 (GRCm39)	R3489*	probably null	Het
Lrriq1	T	C	10: 103,050,640 (GRCm39)	N704S	probably benign	Het
Mbtps1	T	C	8: 120,235,693 (GRCm39)	N995S	probably benign	Het
Mga	T	C	2: 119,757,013 (GRCm39)	C1077R	probably damaging	Het
Muc21	G	A	17: 35,932,131 (GRCm39)	P685L	unknown	Het
Ndufv1	A	T	19: 4,059,912 (GRCm39)	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,429,660 (GRCm39)	L226P	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Or12k8	A	C	2: 36,975,016 (GRCm39)	M248R	probably benign	Het
Or1d2	A	G	11: 74,255,791 (GRCm39)	T99A	probably benign	Het
Or2n1d	A	T	17: 38,646,224 (GRCm39)	M59L	probably damaging	Het
Or5b99	G	A	19: 12,976,428 (GRCm39)	C26Y	probably benign	Het
Or7g35	A	T	9: 19,496,379 (GRCm39)	D182V	probably benign	Het
Phc3	A	G	3: 30,968,691 (GRCm39)	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppp4c	A	T	7: 126,386,419 (GRCm39)	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,422,023 (GRCm39)	P308T	probably damaging	Het
Rhot1	A	G	11: 80,148,380 (GRCm39)	T607A	probably null	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,701,294 (GRCm39)	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,672,571 (GRCm39)	Y36H	probably damaging	Het
Sox17	T	C	1: 4,562,447 (GRCm39)	Y251C	probably damaging	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Taf4b	T	C	18: 14,946,296 (GRCm39)	V373A	probably benign	Het
Tecpr2	T	A	12: 110,881,184 (GRCm39)	V107E	probably damaging	Het
Them7	A	G	2: 105,209,124 (GRCm39)	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Ttn	C	T	2: 76,625,937 (GRCm39)	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,754,615 (GRCm39)	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,196,343 (GRCm39)	R309*	probably null	Het
Vmn2r10	A	T	5: 109,144,212 (GRCm39)	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,917,207 (GRCm39)	Q435R	probably null	Het
Vmn2r50	A	T	7: 9,781,571 (GRCm39)	H391Q	probably damaging	Het
Zbtb44	A	T	9: 30,965,309 (GRCm39)	I240F	probably benign	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
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
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
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'- AGAATGCTGCCCCTGGTTAC -3'
(R):5'- GCAAATTGAACAGGTAGACCACTG -3'

Sequencing Primer
(F):5'- GAGAATTTCCATCTACCCCTTAGTGG -3'
(R):5'- TGTCCAACAGAGTCCATGGAGAC -3'

Posted On

2022-01-20