Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Asic3'

258957

Institutional Source

Beutler Lab

Gene Symbol

Asic3

Ensembl Gene

ENSMUSG00000038276

Gene Name

acid-sensing ion channel 3

Synonyms

Accn3, DRASIC

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24618449-24622836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24621997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 419 (Y419F)

Ref Sequence

ENSEMBL: ENSMUSP00000143083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000196296] [ENSMUST00000198990]

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 benign
Transcript: ENSMUST00000049346
AA Change: M370L

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

SMART Domains

Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276
AA Change: M370L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196296
AA Change: Y419F

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: Y419F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198241

Predicted Effect

unknown
Transcript: ENSMUST00000198442
AA Change: Y51F

Predicted Effect

probably benign
Transcript: ENSMUST00000198990

SMART Domains

Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969

Domain	Start	End	E-Value	Type
Pfam:Pkinase	4	101	9.7e-23	PFAM
Pfam:Pkinase_Tyr	4	102	2.7e-13	PFAM
Pfam:Pkinase	97	254	6.6e-30	PFAM
Pfam:Pkinase_Tyr	102	200	9.4e-6	PFAM

Meta Mutation Damage Score

0.5152

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	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
R0245:Asic3	UTSW	5	24,618,836 (GRCm39)	missense	probably damaging	1.00
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
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'- ATAACAGGTTCTGGGACTTGGG -3'
(R):5'- ACAGAGGTAGTCGAGGATCTC -3'

Sequencing Primer
(F):5'- GACTTGGGCAAACTGCTTAAAC -3'
(R):5'- TCTCGAGGATGGTAAGCAGGC -3'

Posted On

2015-01-23