Mutagenetix > Incidental Mutation

Incidental Mutation 'R6986:Chrna5'

542978

Institutional Source

Beutler Lab

Gene Symbol

Chrna5

Ensembl Gene

ENSMUSG00000035594

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 5

Synonyms

Acra-5, Acra5

MMRRC Submission

045093-MU

Accession Numbers

Essential gene?

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

Stock #

R6986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54888164-54915063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54913741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 429 (M429K)

Ref Sequence

ENSEMBL: ENSMUSP00000150942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034851] [ENSMUST00000093844] [ENSMUST00000213960] [ENSMUST00000217408]

AlphaFold

Q2MKA5

Predicted Effect

probably benign
Transcript: ENSMUST00000034851

SMART Domains

Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Neur_chan_LBD	34	240	6.1e-77	PFAM
Pfam:Neur_chan_memb	247	494	7.5e-95	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093844
AA Change: M400K

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: M400K

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

possibly damaging
Transcript: ENSMUST00000213960
AA Change: M429K

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217408
AA Change: M325K

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,129,441 (GRCm39)	N482D	probably damaging	Het
Agbl3	A	G	6: 34,816,387 (GRCm39)	K766E	probably benign	Het
Aldh3a1	T	A	11: 61,105,077 (GRCm39)	I154N	probably damaging	Het
Cdca2	C	T	14: 67,932,446 (GRCm39)	V486I	probably benign	Het
Celf3	G	C	3: 94,395,024 (GRCm39)	A313P	possibly damaging	Het
Cgrrf1	T	C	14: 47,069,586 (GRCm39)		probably benign	Het
Chd7	T	A	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Cux2	A	T	5: 122,006,642 (GRCm39)	L876Q	possibly damaging	Het
Cyb5rl	T	A	4: 106,928,073 (GRCm39)	S3T	probably benign	Het
Ehd4	A	T	2: 119,927,571 (GRCm39)	M321K	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Endod1	T	C	9: 14,268,606 (GRCm39)	E293G	probably damaging	Het
Fat3	G	A	9: 15,932,631 (GRCm39)	T1434I	probably damaging	Het
Flrt2	T	A	12: 95,747,459 (GRCm39)	I599N	probably damaging	Het
Gm6370	T	A	5: 146,430,398 (GRCm39)		probably null	Het
Gm7247	T	C	14: 51,602,832 (GRCm39)	M56T	possibly damaging	Het
H3c8	A	G	13: 23,719,603 (GRCm39)		probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Ints8	T	C	4: 11,204,474 (GRCm39)	Y994C	probably damaging	Het
Irf1	A	G	11: 53,664,966 (GRCm39)	T165A	probably damaging	Het
Lgr6	G	T	1: 134,921,694 (GRCm39)	Q217K	possibly damaging	Het
Lrrc36	T	C	8: 106,185,079 (GRCm39)	S619P	probably damaging	Het
Morn4	T	C	19: 42,066,453 (GRCm39)	N45D	possibly damaging	Het
Mtarc2	T	C	1: 184,573,460 (GRCm39)	H53R	probably benign	Het
Mtmr3	T	C	11: 4,439,692 (GRCm39)	T583A	probably damaging	Het
Ncdn	A	G	4: 126,641,022 (GRCm39)	Y493H	probably damaging	Het
Nckap1	T	A	2: 80,350,911 (GRCm39)	Y726F	probably benign	Het
Optc	T	A	1: 133,825,702 (GRCm39)	M275L	probably benign	Het
Or2w25	A	G	11: 59,504,924 (GRCm39)	K378R	possibly damaging	Het
Or6c69c	G	A	10: 129,911,199 (GRCm39)	V307M	possibly damaging	Het
Perm1	A	T	4: 156,302,976 (GRCm39)	K507*	probably null	Het
Pgbd5	C	T	8: 125,111,212 (GRCm39)	E160K	possibly damaging	Het
Polr2k	C	A	15: 36,175,181 (GRCm39)	P14T	probably benign	Het
Ppp2r3d	A	T	9: 124,439,080 (GRCm38)	Y112*	probably null	Het
Pramel14	T	A	4: 143,719,888 (GRCm39)	D159V	probably damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Rnls	C	T	19: 33,359,781 (GRCm39)	G11D	probably damaging	Het
Sbf2	T	C	7: 109,929,822 (GRCm39)	T333A	probably damaging	Het
Scn3a	A	T	2: 65,338,962 (GRCm39)	N572K	probably damaging	Het
Serinc3	A	G	2: 163,469,891 (GRCm39)	L319P	probably benign	Het
Setbp1	T	C	18: 78,901,054 (GRCm39)	D871G	probably damaging	Het
Sf3b2	T	C	19: 5,329,923 (GRCm39)	T661A	probably benign	Het
Sgsm2	T	A	11: 74,782,867 (GRCm39)	R30W	probably damaging	Het
Sh3tc1	A	G	5: 35,881,288 (GRCm39)	S52P	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Snrpa	A	T	7: 26,892,389 (GRCm39)	M57K	probably damaging	Het
Spata31f3	A	G	4: 42,868,696 (GRCm39)	V309A	possibly damaging	Het
Srbd1	A	T	17: 86,292,650 (GRCm39)	I973N	probably damaging	Het
Srp72	T	A	5: 77,142,723 (GRCm39)	S428T	probably benign	Het
Ss18l2	A	G	9: 121,541,671 (GRCm39)	Y50C	probably damaging	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmc1	T	C	19: 20,801,647 (GRCm39)	N460D	probably benign	Het
Tnni3k	C	T	3: 154,667,501 (GRCm39)	G280R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc3	A	G	3: 36,709,165 (GRCm39)		probably null	Het
Tshr	C	T	12: 91,500,731 (GRCm39)	A152V	probably damaging	Het
Tuft1	G	A	3: 94,521,461 (GRCm39)	P358S	probably damaging	Het
Vmn2r120	A	T	17: 57,816,340 (GRCm39)	S672T	probably damaging	Het
Vmn2r83	G	T	10: 79,316,093 (GRCm39)	E496D	probably benign	Het
Vmn2r91	A	G	17: 18,356,271 (GRCm39)	N646S	probably benign	Het
Zfp9	A	G	6: 118,441,426 (GRCm39)	V412A	possibly damaging	Het
Zmynd8	G	T	2: 165,675,335 (GRCm39)	H273N	probably 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
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
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'- CTTGTTAACTGTAGTATTCTATGGCAG -3'
(R):5'- TCCTAAGAGCTGCTTGACTGC -3'

Sequencing Primer
(F):5'- GTCTTAGAGATCTGGGCA -3'
(R):5'- GACTGCTCACTAAGTCCAGTG -3'

Posted On

2018-11-28