Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Chrna5'

547927

Institutional Source

Beutler Lab

Gene Symbol

Chrna5

Ensembl Gene

ENSMUSG00000035594

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 5

Synonyms

Acra-5, Acra5

MMRRC Submission

045153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R7056 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

54888164-54915063 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 54888985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093844] [ENSMUST00000213960] [ENSMUST00000217408]

AlphaFold

Q2MKA5

Predicted Effect

probably benign
Transcript: ENSMUST00000093844

SMART Domains

Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	18	221	4.9e-72	PFAM
Pfam:Neur_chan_memb	228	352	1.9e-51	PFAM
Pfam:Neur_chan_memb	338	417	1.2e-14	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000213960
AA Change: A29V

Predicted Effect

unknown
Transcript: ENSMUST00000217408
AA Change: A29V

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are less sensitive to nicotine-induced seizures than wild-type controls and exhibit a significantly shorter latency time to seizure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,682,120 (GRCm39)	E362G	probably benign	Het
Eed	A	T	7: 89,619,564 (GRCm39)	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,450 (GRCm39)	S472G	probably benign	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Or4f60	T	C	2: 111,902,662 (GRCm39)	N89D	probably benign	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr70	T	A	15: 7,913,877 (GRCm39)	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	Het

Other mutations in Chrna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Chrna5	APN	9	54,911,683 (GRCm39)	missense	possibly damaging	0.61
IGL01503:Chrna5	APN	9	54,905,455 (GRCm39)	intron	probably benign
IGL01617:Chrna5	APN	9	54,912,297 (GRCm39)	missense	probably damaging	0.98
IGL01935:Chrna5	APN	9	54,912,127 (GRCm39)	missense	probably benign	0.01
IGL02613:Chrna5	APN	9	54,913,705 (GRCm39)	missense	probably damaging	0.99
IGL03248:Chrna5	APN	9	54,911,923 (GRCm39)	missense	probably damaging	1.00
IGL03412:Chrna5	APN	9	54,911,719 (GRCm39)	missense	probably damaging	1.00
R0712:Chrna5	UTSW	9	54,911,647 (GRCm39)	missense	probably damaging	1.00
R1619:Chrna5	UTSW	9	54,911,649 (GRCm39)	missense	probably benign	0.00
R1698:Chrna5	UTSW	9	54,911,926 (GRCm39)	missense	probably damaging	1.00
R1789:Chrna5	UTSW	9	54,911,935 (GRCm39)	missense	possibly damaging	0.94
R1800:Chrna5	UTSW	9	54,912,159 (GRCm39)	missense	probably damaging	0.99
R4028:Chrna5	UTSW	9	54,905,370 (GRCm39)	missense	probably damaging	1.00
R4030:Chrna5	UTSW	9	54,905,370 (GRCm39)	missense	probably damaging	1.00
R4031:Chrna5	UTSW	9	54,905,370 (GRCm39)	missense	probably damaging	1.00
R4201:Chrna5	UTSW	9	54,905,359 (GRCm39)	missense	probably benign	0.00
R4792:Chrna5	UTSW	9	54,911,985 (GRCm39)	missense	probably damaging	1.00
R5196:Chrna5	UTSW	9	54,913,803 (GRCm39)	missense	possibly damaging	0.91
R5718:Chrna5	UTSW	9	54,905,389 (GRCm39)	missense	probably benign	0.00
R5779:Chrna5	UTSW	9	54,905,388 (GRCm39)	missense	probably benign	0.35
R6254:Chrna5	UTSW	9	54,913,740 (GRCm39)	missense	probably benign	0.00
R6492:Chrna5	UTSW	9	54,905,347 (GRCm39)	missense	probably benign	0.11
R6887:Chrna5	UTSW	9	54,912,417 (GRCm39)	missense	probably benign	0.00
R6986:Chrna5	UTSW	9	54,913,741 (GRCm39)	missense	possibly damaging	0.83
R7222:Chrna5	UTSW	9	54,905,347 (GRCm39)	missense	probably benign	0.11
R7384:Chrna5	UTSW	9	54,912,117 (GRCm39)	missense	probably damaging	1.00
R7572:Chrna5	UTSW	9	54,913,749 (GRCm39)	missense	probably damaging	1.00
R7653:Chrna5	UTSW	9	54,909,718 (GRCm39)	missense	probably benign
R7846:Chrna5	UTSW	9	54,912,391 (GRCm39)	missense	probably benign	0.38
R8808:Chrna5	UTSW	9	54,905,348 (GRCm39)	missense	probably benign	0.20
R8901:Chrna5	UTSW	9	54,911,737 (GRCm39)	missense	probably damaging	1.00
R9303:Chrna5	UTSW	9	54,912,156 (GRCm39)	missense	probably benign	0.16
R9716:Chrna5	UTSW	9	54,911,919 (GRCm39)	missense	probably benign	0.00
Z1176:Chrna5	UTSW	9	54,911,766 (GRCm39)	missense	probably damaging	1.00
Z1177:Chrna5	UTSW	9	54,912,240 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCGTGCAGAAGCTGAAGAGC -3'
(R):5'- AAAGTTGTACCGAGGCACGC -3'

Sequencing Primer
(F):5'- CTTCCGAGAAACGAGCGGATTTC -3'
(R):5'- TACCGAGGCACGCCCTAC -3'

Posted On

2019-05-13