Mutagenetix > Incidental Mutation

Incidental Mutation 'R8919:Asic1'

679159

Institutional Source

Beutler Lab

Gene Symbol

Asic1

Ensembl Gene

ENSMUSG00000023017

Gene Name

acid-sensing ion channel 1

Synonyms

B530003N02Rik, ASIC1 beta, Accn2, ASIC1b, ASIC, ASIC1a, BNaC2, ASICalpha

MMRRC Submission

068706-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R8919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99568249-99599011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99569826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 49 (C49Y)

Ref Sequence

ENSEMBL: ENSMUSP00000023758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023758]

AlphaFold

Q6NXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000023758
AA Change: C49Y

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: C49Y

Domain	Start	End	E-Value	Type
Pfam:ASC	21	454	9.9e-95	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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 acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in absence of H⁺-gated currents in hippocampal neurons, impaired long term potentiation, reduced excitatory postsynaptic potentials, and defective spatial learning and eye blink conditioning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,993,158 (GRCm39)	T373I	possibly damaging	Het
Abca13	T	C	11: 9,241,653 (GRCm39)	L1172P	possibly damaging	Het
Abcg2	A	G	6: 58,661,326 (GRCm39)	Y459C	probably benign	Het
AC125199.3	T	C	16: 88,609,061 (GRCm39)	N4D	possibly damaging	Het
Acad8	A	G	9: 26,910,785 (GRCm39)	M3T	probably benign	Het
Acsbg3	A	C	17: 57,189,218 (GRCm39)	I209L	probably benign	Het
Adcyap1r1	C	T	6: 55,474,080 (GRCm39)	T472I	probably damaging	Het
Ank3	A	T	10: 69,840,671 (GRCm39)	K1890N	possibly damaging	Het
Atp1a1	T	C	3: 101,498,547 (GRCm39)	N215S	probably damaging	Het
C87436	A	G	6: 86,422,774 (GRCm39)	Y116C	probably damaging	Het
Car5a	T	C	8: 122,671,519 (GRCm39)	D5G	probably benign	Het
Ccdc169	T	C	3: 55,058,368 (GRCm39)		probably null	Het
Ccdc93	A	G	1: 121,426,970 (GRCm39)	R586G	probably damaging	Het
Cep295	A	G	9: 15,238,007 (GRCm39)	V131A	probably damaging	Het
Cox5a	A	G	9: 57,436,329 (GRCm39)	D60G	possibly damaging	Het
Cpne6	A	T	14: 55,750,104 (GRCm39)	E78D	probably benign	Het
Cyp2u1	T	C	3: 131,089,114 (GRCm39)	E390G	probably damaging	Het
Dab2	C	A	15: 6,465,271 (GRCm39)	N707K		Het
Dock10	A	T	1: 80,483,147 (GRCm39)	D2101E	probably benign	Het
Duoxa2	G	A	2: 122,132,357 (GRCm39)		probably null	Het
Eif4a3	T	C	11: 119,190,758 (GRCm39)	D22G	probably benign	Het
Fhip1b	T	C	7: 105,037,477 (GRCm39)	T369A	possibly damaging	Het
Fubp3	A	G	2: 31,482,476 (GRCm39)		probably null	Het
Gm10330	A	G	12: 23,829,887 (GRCm39)	L98P	probably benign	Het
Gm5108	A	G	5: 68,134,299 (GRCm39)	*102W	probably null	Het
Gpr149	A	C	3: 62,438,478 (GRCm39)	S560A	probably damaging	Het
Haspin	T	C	11: 73,027,430 (GRCm39)	D553G	probably benign	Het
Hsf1	C	T	15: 76,382,051 (GRCm39)	H104Y	probably benign	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itih2	G	A	2: 10,102,822 (GRCm39)	Q771*	probably null	Het
Kazald1	T	A	19: 45,065,395 (GRCm39)	L92Q	probably damaging	Het
Krt19	T	C	11: 100,031,980 (GRCm39)	E324G	probably damaging	Het
Lrrc28	A	T	7: 67,268,833 (GRCm39)	V79E	possibly damaging	Het
Ltn1	T	A	16: 87,178,381 (GRCm39)	Q1616L	probably damaging	Het
Mdc1	A	G	17: 36,158,843 (GRCm39)	K408E	probably benign	Het
Nalcn	A	T	14: 123,561,284 (GRCm39)	M738K	probably benign	Het
Ncoa4	T	C	14: 31,894,848 (GRCm39)	L125P	probably damaging	Het
Ncor2	G	T	5: 125,106,253 (GRCm39)	R810S		Het
Neb	C	T	2: 52,127,141 (GRCm39)	G348D		Het
Nfat5	T	A	8: 108,095,228 (GRCm39)	F1156L	probably damaging	Het
Oit3	G	A	10: 59,277,468 (GRCm39)	T13I	unknown	Het
Opa1	A	C	16: 29,424,340 (GRCm39)	Q230P	probably damaging	Het
Or10j3b	T	C	1: 173,044,064 (GRCm39)	I282T	probably damaging	Het
Or52k2	T	A	7: 102,253,711 (GRCm39)	I50N	probably damaging	Het
Or5p66	A	G	7: 107,886,289 (GRCm39)	F15L	probably damaging	Het
Or5w12	A	C	2: 87,502,567 (GRCm39)	L48W	probably damaging	Het
Or6c5b	G	T	10: 129,246,082 (GRCm39)	M282I	probably benign	Het
Parpbp	T	C	10: 87,946,189 (GRCm39)	H410R	probably null	Het
Pex5l	A	G	3: 33,007,333 (GRCm39)	V481A	probably damaging	Het
Plekhh3	C	A	11: 101,057,225 (GRCm39)	R344L	probably benign	Het
Prrc2b	T	C	2: 32,104,953 (GRCm39)	V1477A	probably benign	Het
Ptp4a2	G	A	4: 129,738,945 (GRCm39)	G94S	possibly damaging	Het
Ptprk	T	A	10: 28,359,203 (GRCm39)	Y598*	probably null	Het
Rfx5	C	A	3: 94,864,475 (GRCm39)	T207N	probably damaging	Het
Rnase2b	A	G	14: 51,400,347 (GRCm39)	T143A	possibly damaging	Het
Scn1a	A	G	2: 66,168,330 (GRCm39)	V92A	probably benign	Het
Shank2	C	A	7: 143,965,265 (GRCm39)	P958T	probably damaging	Het
Slc13a1	A	G	6: 24,108,194 (GRCm39)	I294T	probably damaging	Het
Slc4a8	A	T	15: 100,712,421 (GRCm39)	E1084D	probably benign	Het
Smurf1	T	A	5: 144,820,422 (GRCm39)	R549*	probably null	Het
Spmip10	T	C	18: 56,725,537 (GRCm39)	F66L	probably damaging	Het
Sprr2b	T	C	3: 92,225,032 (GRCm39)	C93R	unknown	Het
Tcn2	G	T	11: 3,873,569 (GRCm39)	S259Y	probably damaging	Het
Tent4a	G	T	13: 69,651,828 (GRCm39)	T531N	possibly damaging	Het
Tle1	A	G	4: 72,076,525 (GRCm39)	S168P	possibly damaging	Het
Tnfrsf1b	C	T	4: 144,950,150 (GRCm39)	G264D	probably damaging	Het
Tnks2	T	A	19: 36,823,088 (GRCm39)	N118K	probably damaging	Het
Topaz1	G	T	9: 122,626,930 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,443,796 (GRCm39)		probably benign	Het
Ttk	A	G	9: 83,721,322 (GRCm39)	E69G	probably damaging	Het
Tulp3	T	C	6: 128,310,966 (GRCm39)	D87G	probably benign	Het
Usp38	C	T	8: 81,708,479 (GRCm39)	G1033D	probably damaging	Het
Usp44	T	A	10: 93,693,775 (GRCm39)	N707K	probably benign	Het
Vipas39	T	A	12: 87,305,858 (GRCm39)	R112*	probably null	Het
Vmn1r185	A	C	7: 26,311,206 (GRCm39)	S100A	probably damaging	Het
Vmn1r209	T	C	13: 22,990,223 (GRCm39)	M156V	probably benign	Het
Vmn1r3	G	A	4: 3,184,863 (GRCm39)	T148I	probably benign	Het
Wdr41	G	A	13: 95,151,620 (GRCm39)	R260H	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Wnk2	A	T	13: 49,221,711 (GRCm39)	H1183Q	possibly damaging	Het
Zfp667	A	T	7: 6,308,256 (GRCm39)	H308L	possibly damaging	Het
Zfp952	A	G	17: 33,220,628 (GRCm39)	N18D	possibly damaging	Het

Other mutations in Asic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Asic1	APN	15	99,569,998 (GRCm39)	missense	probably damaging	0.99
IGL01418:Asic1	APN	15	99,569,998 (GRCm39)	missense	probably damaging	0.99
IGL01718:Asic1	APN	15	99,569,883 (GRCm39)	missense	probably damaging	1.00
IGL01941:Asic1	APN	15	99,596,982 (GRCm39)	missense	possibly damaging	0.95
IGL01993:Asic1	APN	15	99,595,353 (GRCm39)	missense	probably benign	0.01
IGL02097:Asic1	APN	15	99,592,567 (GRCm39)	splice site	probably benign
IGL03028:Asic1	APN	15	99,570,038 (GRCm39)	missense	probably benign	0.03
IGL03082:Asic1	APN	15	99,594,428 (GRCm39)	missense	probably benign
IGL03183:Asic1	APN	15	99,569,898 (GRCm39)	missense	probably benign	0.43
IGL03231:Asic1	APN	15	99,596,983 (GRCm39)	missense	probably benign	0.42
R0111:Asic1	UTSW	15	99,594,864 (GRCm39)	missense	probably damaging	1.00
R0243:Asic1	UTSW	15	99,596,498 (GRCm39)	unclassified	probably benign
R0316:Asic1	UTSW	15	99,569,819 (GRCm39)	missense	probably benign	0.03
R0518:Asic1	UTSW	15	99,596,700 (GRCm39)	missense	probably damaging	1.00
R0520:Asic1	UTSW	15	99,593,416 (GRCm39)	missense	probably damaging	1.00
R0521:Asic1	UTSW	15	99,596,700 (GRCm39)	missense	probably damaging	1.00
R0610:Asic1	UTSW	15	99,596,780 (GRCm39)	missense	probably benign	0.14
R1034:Asic1	UTSW	15	99,595,939 (GRCm39)	missense	probably damaging	1.00
R1666:Asic1	UTSW	15	99,597,006 (GRCm39)	missense	probably damaging	1.00
R1796:Asic1	UTSW	15	99,594,535 (GRCm39)	missense	probably null	0.99
R1993:Asic1	UTSW	15	99,569,765 (GRCm39)	missense	probably damaging	1.00
R2130:Asic1	UTSW	15	99,569,756 (GRCm39)	missense	possibly damaging	0.73
R2180:Asic1	UTSW	15	99,569,846 (GRCm39)	missense	probably benign
R2895:Asic1	UTSW	15	99,594,483 (GRCm39)	missense	probably benign	0.22
R3793:Asic1	UTSW	15	99,569,906 (GRCm39)	nonsense	probably null
R3848:Asic1	UTSW	15	99,570,814 (GRCm39)	missense	probably benign	0.01
R5115:Asic1	UTSW	15	99,569,933 (GRCm39)	missense	probably damaging	0.97
R5186:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R5187:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R5409:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R6011:Asic1	UTSW	15	99,596,960 (GRCm39)	missense	probably benign	0.05
R6383:Asic1	UTSW	15	99,596,761 (GRCm39)	missense	probably damaging	0.96
R7133:Asic1	UTSW	15	99,569,968 (GRCm39)	missense	probably damaging	1.00
R7255:Asic1	UTSW	15	99,595,338 (GRCm39)	missense	probably damaging	0.97
R7587:Asic1	UTSW	15	99,593,471 (GRCm39)	missense	probably damaging	1.00
R8012:Asic1	UTSW	15	99,594,532 (GRCm39)	missense	possibly damaging	0.92
R8030:Asic1	UTSW	15	99,592,722 (GRCm39)	missense	possibly damaging	0.56
R8089:Asic1	UTSW	15	99,595,968 (GRCm39)	missense	probably damaging	1.00
R9417:Asic1	UTSW	15	99,590,405 (GRCm39)	missense	probably benign
R9534:Asic1	UTSW	15	99,594,397 (GRCm39)	missense	probably benign	0.01
R9646:Asic1	UTSW	15	99,593,414 (GRCm39)	missense	probably benign	0.17
R9717:Asic1	UTSW	15	99,590,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGAGGGGCCCTATATGC -3'
(R):5'- TTGGAGACTTGGCTAAAGCG -3'

Sequencing Primer
(F):5'- GGACAATGACAGAGTCTTGTCTCC -3'
(R):5'- GCGAAACTCATTGAGGTTGC -3'

Posted On

2021-08-02