Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Asic3'

700344

Institutional Source

Beutler Lab

Gene Symbol

Asic3

Ensembl Gene

ENSMUSG00000038276

Gene Name

acid-sensing ion channel 3

Synonyms

Accn3, DRASIC

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24618449-24622836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24618837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 43 (R43H)

Ref Sequence

ENSEMBL: ENSMUSP00000039914 (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: R43H

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

SMART Domains

Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276
AA Change: R43H

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

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: R43H

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

SMART Domains

Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: R43H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198166

Predicted Effect

probably benign
Transcript: ENSMUST00000198442

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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, 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Acap1	A	G	11: 69,775,484 (GRCm39)	V479A	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,466,913 (GRCm39)	M156V	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,989,622 (GRCm39)	V228E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gemin4	A	G	11: 76,103,942 (GRCm39)	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa12b	T	C	2: 130,976,036 (GRCm39)	Y13H	probably damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	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
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
R9564:Asic3	UTSW	5	24,620,875 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CTTGCTGAGCTACTTGAGTCC -3'
(R):5'- GCGCAGGGGATTGATGTTAC -3'

Sequencing Primer
(F):5'- AAAACAGCTTCCGTGCTCCTTAG -3'
(R):5'- TGTTACACAAAGTGACAGCTGG -3'

Posted On

2022-02-07