Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Asic4'

461548

Institutional Source

Beutler Lab

Gene Symbol

Asic4

Ensembl Gene

ENSMUSG00000033007

Gene Name

acid-sensing ion channel family member 4

Synonyms

Accn4

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5921 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

75427080-75450987 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75428017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 181 (N181S)

Ref Sequence

ENSEMBL: ENSMUSP00000109207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000113577]

AlphaFold

Q7TNS7

Predicted Effect

probably benign
Transcript: ENSMUST00000037708
AA Change: N181S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: N181S

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:ASC	45	464	5.3e-92	PFAM
low complexity region	507	533	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113577
AA Change: N181S

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: N181S

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Pfam:ASC	45	346	5.5e-94	PFAM
Pfam:ASC	344	446	1.4e-42	PFAM
low complexity region	488	514	N/A	INTRINSIC

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous knockout increases the fear response in the predator-odor induced fear test and increases anxiety in open field and elevated plus maze tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably damaging	Het

Other mutations in Asic4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Asic4	APN	1	75,445,790 (GRCm39)	missense	possibly damaging	0.94
IGL01470:Asic4	APN	1	75,427,510 (GRCm39)	missense	probably damaging	1.00
IGL02645:Asic4	APN	1	75,449,998 (GRCm39)	unclassified	probably benign
IGL03002:Asic4	APN	1	75,427,967 (GRCm39)	missense	possibly damaging	0.61
positron	UTSW	1	75,449,687 (GRCm39)	nonsense	probably null
PIT4445001:Asic4	UTSW	1	75,427,771 (GRCm39)	missense	probably benign	0.03
R0106:Asic4	UTSW	1	75,427,771 (GRCm39)	missense	probably benign	0.03
R0138:Asic4	UTSW	1	75,446,331 (GRCm39)	missense	possibly damaging	0.87
R0453:Asic4	UTSW	1	75,450,155 (GRCm39)	unclassified	probably benign
R0573:Asic4	UTSW	1	75,445,746 (GRCm39)	splice site	probably benign
R0705:Asic4	UTSW	1	75,428,014 (GRCm39)	missense	probably damaging	1.00
R1892:Asic4	UTSW	1	75,446,126 (GRCm39)	missense	probably damaging	1.00
R1912:Asic4	UTSW	1	75,445,876 (GRCm39)	missense	possibly damaging	0.93
R3614:Asic4	UTSW	1	75,449,702 (GRCm39)	missense	probably damaging	1.00
R3790:Asic4	UTSW	1	75,446,485 (GRCm39)	unclassified	probably benign
R3923:Asic4	UTSW	1	75,427,871 (GRCm39)	missense	probably damaging	1.00
R4447:Asic4	UTSW	1	75,447,014 (GRCm39)	unclassified	probably benign
R5177:Asic4	UTSW	1	75,427,483 (GRCm39)	missense	probably damaging	1.00
R5208:Asic4	UTSW	1	75,427,870 (GRCm39)	missense	probably damaging	1.00
R5266:Asic4	UTSW	1	75,427,567 (GRCm39)	missense	probably benign	0.03
R5436:Asic4	UTSW	1	75,427,963 (GRCm39)	missense	probably benign	0.09
R6086:Asic4	UTSW	1	75,449,887 (GRCm39)	missense	possibly damaging	0.64
R6512:Asic4	UTSW	1	75,449,687 (GRCm39)	nonsense	probably null
R6530:Asic4	UTSW	1	75,448,979 (GRCm39)	missense	probably damaging	0.98
R7545:Asic4	UTSW	1	75,449,060 (GRCm39)	missense	probably damaging	0.98
R9129:Asic4	UTSW	1	75,446,469 (GRCm39)	missense	possibly damaging	0.77
R9322:Asic4	UTSW	1	75,446,462 (GRCm39)	missense	probably benign	0.38
Z1177:Asic4	UTSW	1	75,445,864 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCAACATCAACCGCTTCCG -3'
(R):5'- GTAAGCCCTTCTGAGCATCC -3'

Sequencing Primer
(F):5'- TGATATCTTCCACCTGGC -3'
(R):5'- ATCCACTGCTCCTGGACTGAG -3'

Posted On

2017-02-28