Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Chrna7'

345356

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

041814-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62748440-62862274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62753538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 327 (M327T)

Ref Sequence

ENSEMBL: ENSMUSP00000032738 (fasta)

Gene Model

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

AlphaFold

P49582

Predicted Effect

probably damaging
Transcript: ENSMUST00000032738
AA Change: M327T

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

SMART Domains

Protein: ENSMUSP00000032738
Gene: ENSMUSG00000030525
AA Change: M327T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,188 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Abcb7	A	C	X: 103,366,988 (GRCm39)	D135E	probably benign	Het
Ace	T	A	11: 105,872,585 (GRCm39)		probably null	Het
Acnat1	T	C	4: 49,450,781 (GRCm39)	D110G	probably benign	Het
Ak9	C	T	10: 41,259,907 (GRCm39)	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,678,766 (GRCm39)	S972P	probably damaging	Het
Bmf	C	A	2: 118,379,609 (GRCm39)	A56S	probably benign	Het
C6	T	C	15: 4,792,852 (GRCm39)	L319P	possibly damaging	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,395,088 (GRCm39)	T69A	probably benign	Het
Cep162	A	G	9: 87,085,848 (GRCm39)	Y1159H	possibly damaging	Het
Clca3a2	A	T	3: 144,511,444 (GRCm39)	N41K	probably damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,327,227 (GRCm39)	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,617,671 (GRCm39)	I67L	probably benign	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Esp31	T	A	17: 38,952,012 (GRCm39)		probably null	Het
Esrp2	A	G	8: 106,859,343 (GRCm39)	M498T	probably damaging	Het
F5	T	C	1: 164,032,366 (GRCm39)	I1771T	probably benign	Het
Fancd2	C	A	6: 113,562,438 (GRCm39)	H1259Q	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Kat2b	A	G	17: 53,977,826 (GRCm39)	Y791C	probably benign	Het
Kazn	A	G	4: 141,937,403 (GRCm39)	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,853,228 (GRCm39)	T109A	probably damaging	Het
Med13	T	C	11: 86,169,392 (GRCm39)	T1955A	probably damaging	Het
Megf10	A	T	18: 57,420,884 (GRCm39)	S841C	probably damaging	Het
Megf10	G	A	18: 57,322,675 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,802,469 (GRCm39)		probably null	Het
Mrap2	A	T	9: 87,064,842 (GRCm39)	E194D	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrip1	A	G	16: 76,089,968 (GRCm39)	F530L	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	C	7: 104,685,280 (GRCm39)	I292L	probably benign	Het
Or6c216	T	C	10: 129,678,864 (GRCm39)	T16A	possibly damaging	Het
Or9i16	A	T	19: 13,865,381 (GRCm39)	H64Q	probably damaging	Het
Oxtr	C	T	6: 112,466,713 (GRCm39)	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,201,829 (GRCm39)	K464N	probably benign	Het
Pja2	A	T	17: 64,620,025 (GRCm39)	M1K	probably null	Het
Pkhd1	A	T	1: 20,573,280 (GRCm39)	N1875K	probably damaging	Het
Pogz	T	C	3: 94,787,491 (GRCm39)	S1360P	possibly damaging	Het
Proc	A	T	18: 32,256,512 (GRCm39)	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,402,492 (GRCm39)	I132T	probably benign	Het
Rpgr	A	G	X: 10,062,255 (GRCm39)	S343P	probably benign	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,820,481 (GRCm39)	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,483,131 (GRCm39)	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,860,834 (GRCm39)	D65G	probably benign	Het
Slc25a45	A	G	19: 5,934,464 (GRCm39)	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,733,579 (GRCm39)	Y103C	probably damaging	Het
Stat3	C	T	11: 100,794,500 (GRCm39)	D270N	probably damaging	Het
Taar8b	T	C	10: 23,967,736 (GRCm39)	S153G	probably benign	Het
Top1	A	G	2: 160,562,885 (GRCm39)	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,966,801 (GRCm39)	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Usp29	A	G	7: 6,965,479 (GRCm39)	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,804,029 (GRCm39)	L182*	probably null	Het
Zgrf1	T	C	3: 127,394,679 (GRCm39)	I1345T	probably benign	Het
Zscan25	G	T	5: 145,227,815 (GRCm39)	R493L	probably benign	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
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'- GAAGCAGTCAGTGTGGACTC -3'
(R):5'- TCCTTTTCCACTAGAAGTGCAG -3'

Sequencing Primer
(F):5'- CAGTCAGTGTGGACTCCTGATC -3'
(R):5'- TTCAGTATGACGGCACAGTATGACC -3'

Posted On

2015-09-25