Mutagenetix > Incidental Mutation

Incidental Mutation 'R4030:Chrna5'

313180

Institutional Source

Beutler Lab

Gene Symbol

Chrna5

Ensembl Gene

ENSMUSG00000035594

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 5

Synonyms

Acra-5, Acra5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R4030 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54888164-54915063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54905370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 61 (W61R)

Ref Sequence

ENSEMBL: ENSMUSP00000150942 (fasta)

Gene Model

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

AlphaFold

Q2MKA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093844
AA Change: W32R

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

SMART Domains

Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: W32R

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

probably damaging
Transcript: ENSMUST00000213960
AA Change: W61R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216865

Predicted Effect

probably benign
Transcript: ENSMUST00000217408

Meta Mutation Damage Score

0.4695

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
2700062C07Rik	C	T	18: 24,608,715 (GRCm39)	P145L	probably benign	Het
Akap3	A	T	6: 126,841,984 (GRCm39)	D201V	probably damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Bpifb2	T	C	2: 153,733,237 (GRCm39)	S400P	probably benign	Het
Brd7	A	T	8: 89,059,559 (GRCm39)	I617N	probably damaging	Het
Cdhr2	C	A	13: 54,865,674 (GRCm39)	P224Q	probably damaging	Het
Cdon	A	G	9: 35,403,202 (GRCm39)	N1104S	probably damaging	Het
Ceacam3	T	C	7: 16,892,267 (GRCm39)	Y337H	probably benign	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cpsf1	G	A	15: 76,485,979 (GRCm39)	T397M	possibly damaging	Het
Crhr2	T	C	6: 55,094,662 (GRCm39)	D32G	probably benign	Het
Dip2b	A	G	15: 100,084,053 (GRCm39)	Y892C	probably damaging	Het
Dpyd	A	G	3: 118,690,815 (GRCm39)	D308G	probably benign	Het
Dsp	A	G	13: 38,375,404 (GRCm39)	N1063S	possibly damaging	Het
E030030I06Rik	C	A	10: 22,024,899 (GRCm39)	G5C	unknown	Het
Ehbp1	T	C	11: 22,235,498 (GRCm39)	T32A	probably damaging	Het
Fbxo9	C	A	9: 78,005,623 (GRCm39)		probably null	Het
Gpatch3	G	A	4: 133,305,458 (GRCm39)	R231H	possibly damaging	Het
Gpr68	A	G	12: 100,845,475 (GRCm39)	L23P	probably damaging	Het
H2-Q6	C	A	17: 35,644,792 (GRCm39)	Q194K	probably benign	Het
Hmgb1	A	G	5: 148,987,510 (GRCm39)	M13T	probably benign	Het
Kdm5a	T	A	6: 120,382,074 (GRCm39)	L706*	probably null	Het
Krt12	A	T	11: 99,312,854 (GRCm39)	F63L	unknown	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Lgr4	T	C	2: 109,820,096 (GRCm39)	S102P	probably benign	Het
Loxl4	A	T	19: 42,596,798 (GRCm39)	V71E	probably damaging	Het
Lrrc36	A	C	8: 106,153,439 (GRCm39)	N83T	probably damaging	Het
Med26	G	A	8: 73,250,413 (GRCm39)	R229C	probably damaging	Het
Mgam	G	A	6: 40,731,836 (GRCm39)	R1351Q	probably damaging	Het
Mroh8	T	A	2: 157,055,640 (GRCm39)	D986V	probably damaging	Het
Mrpl49	T	C	19: 6,105,230 (GRCm39)	D77G	probably benign	Het
Mrps30	T	C	13: 118,517,077 (GRCm39)	N381D	probably damaging	Het
Mrtfa	G	A	15: 80,899,985 (GRCm39)	T729I	probably benign	Het
Omd	T	A	13: 49,743,125 (GRCm39)	N58K	probably benign	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Or4a75	C	A	2: 89,448,207 (GRCm39)	V110F	probably damaging	Het
Plpp5	T	A	8: 26,210,631 (GRCm39)	L74Q	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Prex2	T	A	1: 11,278,792 (GRCm39)	Y1374N	probably benign	Het
Rbak	A	T	5: 143,159,724 (GRCm39)	I443K	probably damaging	Het
Rhpn1	A	T	15: 75,582,406 (GRCm39)	S195C	probably damaging	Het
Rnf115	T	A	3: 96,693,299 (GRCm39)	I210N	probably damaging	Het
Rock2	G	A	12: 17,025,480 (GRCm39)	V1234I	probably damaging	Het
Scube2	A	G	7: 109,430,978 (GRCm39)	V407A	probably benign	Het
Serpina3n	G	T	12: 104,377,660 (GRCm39)		probably null	Het
Shisal2a	G	T	4: 108,240,412 (GRCm39)	C43*	probably null	Het
Slco2b1	A	G	7: 99,332,032 (GRCm39)	L283P	probably damaging	Het
Spag1	G	A	15: 36,234,447 (GRCm39)	V736M	probably damaging	Het
Srebf2	T	A	15: 82,062,984 (GRCm39)	C434S	probably damaging	Het
Ston2	T	C	12: 91,615,037 (GRCm39)	Q457R	possibly damaging	Het
Trhr2	T	C	8: 123,087,438 (GRCm39)	M1V	probably null	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn2r105	T	C	17: 20,429,016 (GRCm39)	R687G	probably damaging	Het
Vmn2r73	T	C	7: 85,521,044 (GRCm39)	Y308C	possibly damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zfyve9	A	G	4: 108,576,898 (GRCm39)	V61A	possibly damaging	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
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
R7056:Chrna5	UTSW	9	54,888,985 (GRCm39)	intron	probably benign
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'- TTCAGGGCCAGCCAATTTC -3'
(R):5'- TTTGGTCACTCTGGCAACC -3'

Sequencing Primer
(F):5'- GGGCCAGCCAATTTCAAACAAAC -3'
(R):5'- ACTCTGGCAACCTCTAGTGG -3'

Posted On

2015-04-30