Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Asic3'

36155

Institutional Source

Beutler Lab

Gene Symbol

Asic3

Ensembl Gene

ENSMUSG00000038276

Gene Name

acid-sensing ion channel 3

Synonyms

Accn3, DRASIC

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0245 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

24618449-24622836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24618836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 43 (R43S)

Ref Sequence

ENSEMBL: ENSMUSP00000143083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000196296]

AlphaFold

Q6X1Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000030814

SMART Domains

Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969

Domain	Start	End	E-Value	Type
S_TKc	4	286	6.11e-101	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000049346
AA Change: R43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276
AA Change: R43S

Domain	Start	End	E-Value	Type
Pfam:ASC	21	458	2.5e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073076

SMART Domains

Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	3.6e-48	PFAM
AAA	481	668	8.58e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115077

SMART Domains

Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	1.1e-56	PFAM
AAA	481	668	8.58e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136459

Predicted Effect

probably benign
Transcript: ENSMUST00000151535

SMART Domains

Protein: ENSMUSP00000114767
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
Pfam:Zeta_toxin	6	68	7.5e-9	PFAM
Pfam:ABC_tran	8	124	1e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196296
AA Change: R43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: R43S

Domain	Start	End	E-Value	Type
Pfam:ASC	21	459	4e-155	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197210

Predicted Effect

probably benign
Transcript: ENSMUST00000198166

Predicted Effect

probably benign
Transcript: ENSMUST00000198442

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced latency to onset of pain responses, increased sensitivity to light touch, but decreased sensitivity to noxious pinch and responses of acid- and noxious heat-sensitive nociceptors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably damaging	Het

Other mutations in Asic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Asic3	APN	5	24,622,719 (GRCm39)	missense	probably benign	0.44
IGL02527:Asic3	APN	5	24,621,275 (GRCm39)	missense	probably benign	0.00
IGL02869:Asic3	APN	5	24,621,972 (GRCm39)	nonsense	probably null
E0370:Asic3	UTSW	5	24,618,985 (GRCm39)	missense	probably damaging	1.00
IGL03047:Asic3	UTSW	5	24,618,788 (GRCm39)	missense	probably benign
R0011:Asic3	UTSW	5	24,622,490 (GRCm39)	unclassified	probably benign
R0011:Asic3	UTSW	5	24,622,490 (GRCm39)	unclassified	probably benign
R0270:Asic3	UTSW	5	24,622,700 (GRCm39)	missense	probably benign	0.01
R1464:Asic3	UTSW	5	24,618,819 (GRCm39)	missense	probably damaging	1.00
R1464:Asic3	UTSW	5	24,618,819 (GRCm39)	missense	probably damaging	1.00
R1702:Asic3	UTSW	5	24,620,454 (GRCm39)	missense	probably damaging	1.00
R1824:Asic3	UTSW	5	24,618,749 (GRCm39)	nonsense	probably null
R3403:Asic3	UTSW	5	24,621,985 (GRCm39)	missense	probably damaging	1.00
R3722:Asic3	UTSW	5	24,621,997 (GRCm39)	missense	probably benign	0.08
R4383:Asic3	UTSW	5	24,618,932 (GRCm39)	missense	probably damaging	1.00
R4573:Asic3	UTSW	5	24,622,190 (GRCm39)	missense	probably damaging	1.00
R4794:Asic3	UTSW	5	24,620,895 (GRCm39)	missense	probably damaging	0.96
R6701:Asic3	UTSW	5	24,619,127 (GRCm39)	missense	possibly damaging	0.65
R7154:Asic3	UTSW	5	24,618,660 (GRCm39)	unclassified	probably benign
R7569:Asic3	UTSW	5	24,619,046 (GRCm39)	missense	probably benign	0.00
R7956:Asic3	UTSW	5	24,621,975 (GRCm39)	missense	possibly damaging	0.61
R9233:Asic3	UTSW	5	24,618,837 (GRCm39)	missense	probably damaging	1.00
R9564:Asic3	UTSW	5	24,620,875 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TGCTCCTTAGAAATCCCATCCCCAG -3'
(R):5'- GCGTAGAGTTGTGCCATGTCAAAAG -3'

Sequencing Primer
(F):5'- GTCAGGAAACCTCCCTGCTC -3'
(R):5'- CCATGTCAAAAGTCGGACTG -3'

Posted On

2013-05-09