Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Chrna7'

404785

Institutional Source

Beutler Lab

Gene Symbol

Chrna7

Ensembl Gene

ENSMUSG00000030525

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 7

Synonyms

alpha7 nicotinic receptor, alpha7, alpha7-nAChR, Acra7

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62748440-62862274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62755805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 247 (L247Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032738]

AlphaFold

P49582

Predicted Effect

probably damaging
Transcript: ENSMUST00000032738
AA Change: L247Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: L247Q

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
Pfam:Neur_chan_LBD	26	230	1e-75	PFAM
Pfam:Neur_chan_memb	237	487	3.6e-63	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Nullizygous mice lack hippocampal fast nicotinic currents but show nicotine-induced seizures as well as altered anxiety behavior, fertility defects, airway basal cell hyperplasia. and higher TNF sythesis when endotoxemic. Newborns homozygous for a knock-in allele die with increased neuron apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Cyp4f13	T	C	17: 33,144,795 (GRCm39)	D372G	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,210,204 (GRCm39)	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,815,576 (GRCm39)	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Glb1l2	C	T	9: 26,708,162 (GRCm39)		probably benign	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,870,110 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Terf1	A	T	1: 15,875,909 (GRCm39)	E3V	probably damaging	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	possibly damaging	Het

Other mutations in Chrna7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Chrna7	APN	7	62,749,267 (GRCm39)	missense	probably benign	0.01
IGL01999:Chrna7	APN	7	62,753,539 (GRCm39)	missense	probably damaging	1.00
IGL02016:Chrna7	APN	7	62,753,583 (GRCm39)	missense	probably damaging	1.00
IGL02388:Chrna7	APN	7	62,757,439 (GRCm39)	missense	probably damaging	1.00
IGL02400:Chrna7	APN	7	62,749,070 (GRCm39)	missense	probably damaging	1.00
IGL02458:Chrna7	APN	7	62,755,842 (GRCm39)	missense	probably damaging	1.00
IGL03039:Chrna7	APN	7	62,798,340 (GRCm39)	missense	probably damaging	1.00
inflation	UTSW	7	62,798,349 (GRCm39)	missense	probably damaging	1.00
thaler	UTSW	7	62,755,775 (GRCm39)	missense	probably damaging	1.00
R0034:Chrna7	UTSW	7	62,798,354 (GRCm39)	missense	possibly damaging	0.79
R0631:Chrna7	UTSW	7	62,749,391 (GRCm39)	missense	probably benign	0.00
R1666:Chrna7	UTSW	7	62,861,890 (GRCm39)	missense	possibly damaging	0.70
R1703:Chrna7	UTSW	7	62,749,255 (GRCm39)	missense	probably damaging	0.99
R1763:Chrna7	UTSW	7	62,749,000 (GRCm39)	missense	probably benign	0.05
R1974:Chrna7	UTSW	7	62,749,034 (GRCm39)	missense	probably damaging	1.00
R2294:Chrna7	UTSW	7	62,760,172 (GRCm39)	missense	probably benign	0.11
R2393:Chrna7	UTSW	7	62,748,994 (GRCm39)	missense	probably damaging	1.00
R4598:Chrna7	UTSW	7	62,753,538 (GRCm39)	missense	probably damaging	1.00
R4599:Chrna7	UTSW	7	62,753,538 (GRCm39)	missense	probably damaging	1.00
R4842:Chrna7	UTSW	7	62,862,196 (GRCm39)	missense	probably benign	0.05
R5143:Chrna7	UTSW	7	62,755,895 (GRCm39)	missense	probably damaging	1.00
R5339:Chrna7	UTSW	7	62,749,055 (GRCm39)	missense	probably damaging	1.00
R5516:Chrna7	UTSW	7	62,749,046 (GRCm39)	missense	probably damaging	0.98
R5807:Chrna7	UTSW	7	62,798,349 (GRCm39)	missense	probably damaging	1.00
R6501:Chrna7	UTSW	7	62,755,863 (GRCm39)	missense	probably damaging	1.00
R6918:Chrna7	UTSW	7	62,809,299 (GRCm39)	missense	probably benign	0.03
R7000:Chrna7	UTSW	7	62,755,787 (GRCm39)	missense	probably damaging	1.00
R7189:Chrna7	UTSW	7	62,755,775 (GRCm39)	missense	probably damaging	1.00
R7483:Chrna7	UTSW	7	62,754,738 (GRCm39)	missense	probably damaging	1.00
R7953:Chrna7	UTSW	7	62,753,541 (GRCm39)	missense	possibly damaging	0.82
R7955:Chrna7	UTSW	7	62,753,541 (GRCm39)	missense	possibly damaging	0.82
R7956:Chrna7	UTSW	7	62,753,541 (GRCm39)	missense	possibly damaging	0.82
R8235:Chrna7	UTSW	7	62,861,972 (GRCm39)	missense	probably damaging	1.00
R9125:Chrna7	UTSW	7	62,757,357 (GRCm39)	nonsense	probably null
R9356:Chrna7	UTSW	7	62,757,437 (GRCm39)	missense	probably damaging	1.00
R9694:Chrna7	UTSW	7	62,754,809 (GRCm39)	missense	probably damaging	1.00
Z1176:Chrna7	UTSW	7	62,861,932 (GRCm39)	missense	probably damaging	1.00
Z1177:Chrna7	UTSW	7	62,757,299 (GRCm39)	critical splice donor site	probably null
Z1191:Chrna7	UTSW	7	62,755,941 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCCTTAAGAATCAGAACCAGGGG -3'
(R):5'- GTCTTCTGATGACCTGATGTCC -3'

Sequencing Primer
(F):5'- TCAGAACCAGGGGTTTATGATG -3'
(R):5'- GATGACCTGATGTCCTCCTTC -3'

Posted On

2016-07-22