Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Chrna5'

522990

Institutional Source

Beutler Lab

Gene Symbol

Chrna5

Ensembl Gene

ENSMUSG00000035594

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 5

Synonyms

Acra-5, Acra5

MMRRC Submission

044624-MU

Accession Numbers

Essential gene?

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

Stock #

R6492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54888164-54915063 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54905347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000150942 (fasta)

Gene Model

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

AlphaFold

Q2MKA5

Predicted Effect

probably benign
Transcript: ENSMUST00000093844
AA Change: D24G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: D24G

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 benign
Transcript: ENSMUST00000213960
AA Change: D53G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216865

Predicted Effect

probably benign
Transcript: ENSMUST00000217408

Meta Mutation Damage Score

0.1171

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	probably benign	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
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'- TCAGGGCCAGCCAATTTCAAAC -3'
(R):5'- TCTAGTGGCTAACTCACACCTGG -3'

Sequencing Primer
(F):5'- GCTATTTGGGGGAGAGCA -3'
(R):5'- CCCTAAGTGCTAAGTGGA -3'

Posted On

2018-06-06