Mutagenetix > Incidental Mutation

Incidental Mutation 'R6163:Asic5'

489949

Institutional Source

Beutler Lab

Gene Symbol

Asic5

Ensembl Gene

ENSMUSG00000028008

Gene Name

acid-sensing ion channel family member 5

Synonyms

brain-liver-intestine amiloride-sensitive sodium channel, BLINaC, Accn5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81889600-81928540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81913833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 169 (N169S)

Ref Sequence

ENSEMBL: ENSMUSP00000103364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029641] [ENSMUST00000107736]

AlphaFold

Q9R0Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029641
AA Change: N211S

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

SMART Domains

Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: N211S

Domain	Start	End	E-Value	Type
Pfam:ASC	41	466	3.5e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107736
AA Change: N169S

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

SMART Domains

Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: N169S

Domain	Start	End	E-Value	Type
Pfam:ASC	1	425	5.5e-110	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,098 (GRCm39)	Q228*	probably null	Het
Atad2b	T	A	12: 5,004,593 (GRCm39)	L374H	probably benign	Het
Birc2	G	A	9: 7,819,036 (GRCm39)	T544I	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Cc2d2b	C	T	19: 40,744,950 (GRCm39)	T23I	probably benign	Het
Ccdc137	G	T	11: 120,350,927 (GRCm39)	R108L	possibly damaging	Het
Cenpe	T	C	3: 134,974,764 (GRCm39)	I2308T	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cpt1b	T	C	15: 89,308,620 (GRCm39)	T103A	probably benign	Het
Cpvl	C	A	6: 53,850,503 (GRCm39)	V445F	probably damaging	Het
Cttnbp2	A	G	6: 18,434,950 (GRCm39)	S303P	possibly damaging	Het
Cyp17a1	T	A	19: 46,657,761 (GRCm39)	I264F	possibly damaging	Het
Cyp51	T	A	5: 4,150,199 (GRCm39)	I175F	probably damaging	Het
Dennd4c	C	T	4: 86,723,828 (GRCm39)	P695S	possibly damaging	Het
Dlgap2	A	T	8: 14,896,641 (GRCm39)	Q1039L	probably damaging	Het
Dnah14	T	C	1: 181,493,926 (GRCm39)	L1694P	probably benign	Het
Dnah2	G	A	11: 69,411,729 (GRCm39)	Q298*	probably null	Het
Dsg2	G	T	18: 20,731,726 (GRCm39)		probably null	Het
Esr2	A	C	12: 76,168,643 (GRCm39)	V522G	probably damaging	Het
Fmo9	T	A	1: 166,494,962 (GRCm39)	H262L	probably benign	Het
Glb1l	T	A	1: 75,178,051 (GRCm39)	M373L	probably benign	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gm37240	T	A	3: 84,423,092 (GRCm39)	E213D	probably damaging	Het
Gmip	T	A	8: 70,270,022 (GRCm39)	V675E	probably benign	Het
Grb10	C	A	11: 11,893,932 (GRCm39)	E330*	probably null	Het
H2ac13	A	T	13: 21,900,859 (GRCm39)	N90Y	probably damaging	Het
Hivep2	A	G	10: 14,005,736 (GRCm39)	K778R	probably damaging	Het
Ighv1-26	T	C	12: 114,752,416 (GRCm39)	S4G	probably benign	Het
Igkv3-3	T	A	6: 70,664,257 (GRCm39)	V33E	possibly damaging	Het
Itga2	C	A	13: 115,002,726 (GRCm39)	G588V	probably damaging	Het
Itpr1	C	T	6: 108,365,245 (GRCm39)	H58Y	probably damaging	Het
Jmjd1c	T	A	10: 67,083,827 (GRCm39)	D2365E	possibly damaging	Het
Limk1	T	C	5: 134,686,809 (GRCm39)	Y518C	probably damaging	Het
Marchf6	G	C	15: 31,465,497 (GRCm39)	H802Q	probably benign	Het
Mark2	A	G	19: 7,268,126 (GRCm39)	S26P	probably benign	Het
Mdn1	T	A	4: 32,716,040 (GRCm39)	L2074Q	probably damaging	Het
Mrpl37	T	C	4: 106,921,793 (GRCm39)	E174G	possibly damaging	Het
Mtcl1	T	C	17: 66,686,326 (GRCm39)	H860R	probably benign	Het
Neurod1	A	G	2: 79,284,505 (GRCm39)	F293L	probably benign	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Nwd2	C	A	5: 63,963,131 (GRCm39)	A905E	probably benign	Het
Or14a260	A	T	7: 85,985,592 (GRCm39)	I4N	possibly damaging	Het
Or1x6	T	A	11: 50,939,595 (GRCm39)	Y220*	probably null	Het
Or5b12b	A	C	19: 12,861,472 (GRCm39)	T76P	probably damaging	Het
Or7e169	A	G	9: 19,757,024 (GRCm39)	I297T	probably benign	Het
Otop1	C	A	5: 38,445,234 (GRCm39)		probably null	Het
Otp	A	G	13: 95,012,288 (GRCm39)	H4R	probably damaging	Het
P4htm	A	C	9: 108,459,150 (GRCm39)	Y261D	probably damaging	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Plekhg1	A	T	10: 3,914,369 (GRCm39)	R1419W	probably damaging	Het
Pramel20	A	G	4: 143,298,605 (GRCm39)	K183E	probably damaging	Het
Prkd3	C	A	17: 79,273,784 (GRCm39)	D491Y	possibly damaging	Het
Prr11	A	C	11: 86,994,454 (GRCm39)	L64R	possibly damaging	Het
Pygo1	G	T	9: 72,851,980 (GRCm39)	A56S	probably damaging	Het
Rexo5	A	G	7: 119,404,470 (GRCm39)	T189A	probably damaging	Het
Rnf213	A	T	11: 119,349,254 (GRCm39)	H3784L	possibly damaging	Het
Rps6ka5	T	G	12: 100,562,179 (GRCm39)		probably null	Het
Slco2b1	T	A	7: 99,338,106 (GRCm39)	I93F	probably damaging	Het
Slfn8	T	C	11: 82,894,690 (GRCm39)	*408W	probably null	Het
Sptbn1	C	A	11: 30,109,443 (GRCm39)	E51*	probably null	Het
Ssc5d	T	A	7: 4,930,253 (GRCm39)	H111Q	probably damaging	Het
Sult1c2	T	C	17: 54,280,981 (GRCm39)	N41D	probably benign	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Tdo2	T	C	3: 81,882,710 (GRCm39)	E2G	possibly damaging	Het
Tff2	T	C	17: 31,363,152 (GRCm39)	E24G	probably benign	Het
Tjp2	C	A	19: 24,103,068 (GRCm39)		probably null	Het
Tnfrsf1b	A	T	4: 144,946,477 (GRCm39)	D311E	probably benign	Het
Usp15	G	T	10: 123,004,210 (GRCm39)	N181K	probably damaging	Het
Vmn1r175	T	G	7: 23,508,591 (GRCm39)	E12A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,773 (GRCm39)	S302P	probably damaging	Het
Vmn2r58	A	G	7: 41,486,825 (GRCm39)	M690T	probably benign	Het
Wee1	T	A	7: 109,734,858 (GRCm39)	H465Q	probably damaging	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	Het

Other mutations in Asic5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Asic5	APN	3	81,911,953 (GRCm39)	missense	possibly damaging	0.48
IGL01155:Asic5	APN	3	81,915,895 (GRCm39)	missense	probably benign	0.02
IGL01908:Asic5	APN	3	81,913,877 (GRCm39)	nonsense	probably null
IGL03049:Asic5	APN	3	81,904,256 (GRCm39)	unclassified	probably benign
IGL03078:Asic5	APN	3	81,921,735 (GRCm39)	missense	possibly damaging	0.65
R0498:Asic5	UTSW	3	81,913,778 (GRCm39)	splice site	probably benign
R0517:Asic5	UTSW	3	81,916,833 (GRCm39)	missense	probably benign	0.01
R0668:Asic5	UTSW	3	81,928,308 (GRCm39)	missense	probably damaging	1.00
R0960:Asic5	UTSW	3	81,913,847 (GRCm39)	missense	probably benign	0.04
R0973:Asic5	UTSW	3	81,915,755 (GRCm39)	splice site	probably benign
R1061:Asic5	UTSW	3	81,928,308 (GRCm39)	missense	probably damaging	1.00
R1106:Asic5	UTSW	3	81,911,897 (GRCm39)	missense	probably damaging	1.00
R1703:Asic5	UTSW	3	81,907,029 (GRCm39)	missense	possibly damaging	0.75
R1864:Asic5	UTSW	3	81,919,294 (GRCm39)	missense	probably benign	0.00
R1892:Asic5	UTSW	3	81,928,293 (GRCm39)	missense	probably damaging	1.00
R4629:Asic5	UTSW	3	81,913,811 (GRCm39)	missense	probably damaging	1.00
R4736:Asic5	UTSW	3	81,907,116 (GRCm39)	missense	possibly damaging	0.56
R5254:Asic5	UTSW	3	81,928,294 (GRCm39)	missense	probably damaging	1.00
R5284:Asic5	UTSW	3	81,915,830 (GRCm39)	missense	probably damaging	1.00
R5573:Asic5	UTSW	3	81,911,791 (GRCm39)	missense	probably benign	0.10
R6359:Asic5	UTSW	3	81,911,803 (GRCm39)	missense	possibly damaging	0.87
R6553:Asic5	UTSW	3	81,916,773 (GRCm39)	missense	possibly damaging	0.57
R6623:Asic5	UTSW	3	81,915,892 (GRCm39)	missense	probably damaging	1.00
R7084:Asic5	UTSW	3	81,919,318 (GRCm39)	missense	probably benign	0.00
R7168:Asic5	UTSW	3	81,919,282 (GRCm39)	missense	probably damaging	1.00
R7296:Asic5	UTSW	3	81,928,383 (GRCm39)	missense	probably benign	0.03
R7304:Asic5	UTSW	3	81,916,872 (GRCm39)	missense	possibly damaging	0.88
R7885:Asic5	UTSW	3	81,913,812 (GRCm39)	missense	probably benign	0.09
R8941:Asic5	UTSW	3	81,913,915 (GRCm39)	splice site	probably benign
R9391:Asic5	UTSW	3	81,928,366 (GRCm39)	missense	probably benign
R9542:Asic5	UTSW	3	81,911,850 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GGAAGCCACTCATCAAAGGC -3'
(R):5'- ACCAGCAAGTTATTTGACAGAGCAG -3'

Sequencing Primer
(F):5'- ACTTGCCAAACTATCAAATCTTGC -3'
(R):5'- GTAAATGTGGAAACCTGTGCCCTC -3'

Posted On

2017-10-10