Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Chrna7'

189886

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

039736-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1703 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

62748440-62862274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62749255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 409 (R409H)

Ref Sequence

ENSEMBL: ENSMUSP00000032738 (fasta)

Gene Model

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

AlphaFold

P49582

Predicted Effect

probably damaging
Transcript: ENSMUST00000032738
AA Change: R409H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: R409H

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

0.0936

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,431 (GRCm39)	Y401*	probably null	Het
4932415M13Rik	C	A	17: 54,032,065 (GRCm39)		noncoding transcript	Het
Abtb3	A	G	10: 85,223,248 (GRCm39)	D19G	unknown	Het
Acoxl	T	A	2: 127,820,692 (GRCm39)	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,584,924 (GRCm39)	C915R	probably damaging	Het
Adgra3	C	T	5: 50,164,117 (GRCm39)	M287I	probably benign	Het
Afg1l	T	G	10: 42,276,395 (GRCm39)	D250A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Amfr	T	C	8: 94,700,871 (GRCm39)	T530A	probably benign	Het
Ank2	C	T	3: 126,723,415 (GRCm39)	V971M	probably damaging	Het
App	A	G	16: 84,762,656 (GRCm39)	S656P	probably damaging	Het
Arid5a	T	A	1: 36,358,656 (GRCm39)		probably null	Het
Asic5	T	A	3: 81,907,029 (GRCm39)	V60D	possibly damaging	Het
Atm	G	T	9: 53,412,000 (GRCm39)	H1019N	probably benign	Het
Cep250	A	G	2: 155,807,466 (GRCm39)	K277R	probably benign	Het
Chrng	A	T	1: 87,138,628 (GRCm39)	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,087,739 (GRCm39)	S199G	probably benign	Het
Clstn2	A	T	9: 97,340,290 (GRCm39)	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,391,181 (GRCm39)		probably benign	Het
Cyp2c69	T	A	19: 39,864,810 (GRCm39)	I223F	probably benign	Het
Dennd1b	A	T	1: 139,097,492 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,917,575 (GRCm39)	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,213,463 (GRCm39)	M506V	probably benign	Het
Ecsit	A	G	9: 21,986,107 (GRCm39)	V173A	probably damaging	Het
Fam13b	T	C	18: 34,584,492 (GRCm39)		probably null	Het
Fgl2	T	A	5: 21,577,730 (GRCm39)	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,767,038 (GRCm39)	R503H	probably damaging	Het
Gramd1a	C	T	7: 30,838,959 (GRCm39)	V247M	possibly damaging	Het
Grip2	A	T	6: 91,754,379 (GRCm39)	I632N	probably damaging	Het
Hspg2	T	C	4: 137,286,462 (GRCm39)	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,691,390 (GRCm39)	Y660C	probably benign	Het
Isg15	T	C	4: 156,284,265 (GRCm39)	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,730,870 (GRCm39)	D388E	probably benign	Het
Jhy	T	C	9: 40,856,133 (GRCm39)	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kif21a	A	G	15: 90,833,250 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,142,667 (GRCm39)	Y604N	probably damaging	Het
Lrp3	T	G	7: 34,912,586 (GRCm39)	S34R	possibly damaging	Het
Lrrc37	C	T	11: 103,431,700 (GRCm39)	V1372I	probably benign	Het
Lyn	T	C	4: 3,738,867 (GRCm39)		probably null	Het
Mroh8	C	T	2: 157,113,896 (GRCm39)	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,098,093 (GRCm39)	F977L	probably damaging	Het
Nol8	C	T	13: 49,820,933 (GRCm39)	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,515,845 (GRCm39)	N169K	probably damaging	Het
Oplah	A	G	15: 76,180,867 (GRCm39)	Y1279H	probably benign	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or4c101	T	A	2: 88,390,599 (GRCm39)	M262K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,458 (GRCm39)	N129S	probably benign	Het
Pcyt2	G	T	11: 120,503,894 (GRCm39)	P185T	probably benign	Het
Pdlim2	A	G	14: 70,411,784 (GRCm39)		probably null	Het
Pgs1	T	C	11: 117,905,554 (GRCm39)		probably benign	Het
Qprt	A	G	7: 126,707,343 (GRCm39)	V251A	probably benign	Het
Rasal2	A	C	1: 156,985,170 (GRCm39)	L834R	probably damaging	Het
Reg1	T	C	6: 78,405,432 (GRCm39)	C161R	probably damaging	Het
Rp1	T	A	1: 4,415,392 (GRCm39)	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,155,346 (GRCm39)	D360G	possibly damaging	Het
Sart3	C	A	5: 113,890,280 (GRCm39)	V482F	probably benign	Het
Scarf2	A	G	16: 17,620,713 (GRCm39)	E127G	probably damaging	Het
Serinc5	T	C	13: 92,825,305 (GRCm39)	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,821,087 (GRCm39)	R57L	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sgca	A	T	11: 94,860,217 (GRCm39)	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,154,000 (GRCm39)	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 82,920,869 (GRCm39)		noncoding transcript	Het
Spam1	A	T	6: 24,796,256 (GRCm39)	D69V	probably damaging	Het
Tanc1	A	G	2: 59,673,365 (GRCm39)	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,123,416 (GRCm39)	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tlx1	A	G	19: 45,144,443 (GRCm39)	D55G	possibly damaging	Het
Tram2	G	T	1: 21,074,458 (GRCm39)	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,744 (GRCm39)	Y325C	probably damaging	Het
Ubac2	T	A	14: 122,142,582 (GRCm39)	S27T	probably benign	Het
Utrn	G	A	10: 12,603,473 (GRCm39)		probably benign	Het
Vnn3	A	T	10: 23,741,828 (GRCm39)	M378L	probably benign	Het
Vps18	T	A	2: 119,119,538 (GRCm39)	D6E	probably benign	Het
Xkr5	T	A	8: 18,989,134 (GRCm39)	I253F	probably benign	Het
Yeats4	A	T	10: 117,051,628 (GRCm39)	C210S	probably benign	Het
Zdhhc20	A	G	14: 58,076,545 (GRCm39)		probably null	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
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
R5310:Chrna7	UTSW	7	62,755,805 (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'- AAAGTCTTTGGACACAGCCTCCAC -3'
(R):5'- TCGTTGCAGACCAGGATCATTCTTC -3'

Sequencing Primer
(F):5'- CTCCACAAAGTTTGGGGCTG -3'
(R):5'- CAGACCAGGATCATTCTTCTGAATTG -3'

Posted On

2014-05-14