Mutagenetix > Incidental Mutation

Incidental Mutation 'R9270:Chrna4'

702822

Institutional Source

Beutler Lab

Gene Symbol

Chrna4

Ensembl Gene

ENSMUSG00000027577

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 4

Synonyms

a4 nicotinic receptor, Acra-4, alpha4-nAChR, Acra4, alpha4 nAChR

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180664104-180685339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180670643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 371 (R371L)

Ref Sequence

ENSEMBL: ENSMUSP00000066338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851]

AlphaFold

O70174

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067120
AA Change: R371L

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: R371L

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Neur_chan_LBD	39	245	1.4e-76	PFAM
Pfam:Neur_chan_memb	252	620	1.9e-107	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108851
AA Change: R371L

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: R371L

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Neur_chan_LBD	39	245	8.4e-79	PFAM
Pfam:Neur_chan_memb	252	620	3.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198922

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Nullizygous mice may show reduced chemically-elicited analgesia, susceptibility to seizures, increased anxiety, and altered behavioral responses to nicotine or a new environment. Homozygotes for any of several knock-in alleles exhibit altered nervous system physiology and/or sensitivity to nicotine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,781 (GRCm39)	E104D	probably damaging	Het
Aig1	T	C	10: 13,529,505 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,890 (GRCm39)	D174E	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Baiap2l2	A	G	15: 79,168,205 (GRCm39)		probably null	Het
Btla	T	C	16: 45,064,656 (GRCm39)	F203L	possibly damaging	Het
C1rb	A	T	6: 124,551,947 (GRCm39)	D283V	probably damaging	Het
C87436	C	G	6: 86,442,813 (GRCm39)	Q462E	probably benign	Het
Ccdc149	T	C	5: 52,563,352 (GRCm39)	D147G	possibly damaging	Het
Chd6	A	T	2: 160,871,793 (GRCm39)	L214*	probably null	Het
Cpne5	A	G	17: 29,444,163 (GRCm39)		probably null	Het
Cr1l	T	C	1: 194,789,204 (GRCm39)	E400G	possibly damaging	Het
Creb3l2	T	C	6: 37,332,583 (GRCm39)	N304D	probably damaging	Het
Cyp17a1	T	C	19: 46,656,030 (GRCm39)	T420A	probably benign	Het
Cyp24a1	A	G	2: 170,327,853 (GRCm39)	I463T	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,973 (GRCm39)	I84N	probably damaging	Het
Dnajc6	G	A	4: 101,496,559 (GRCm39)	V909M	possibly damaging	Het
Dtl	A	G	1: 191,288,923 (GRCm39)	Y264H	probably damaging	Het
Dynlt5	A	G	4: 102,845,955 (GRCm39)		probably null	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Egf	A	G	3: 129,529,449 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,701,231 (GRCm39)	S402P	probably benign	Het
Fcho2	A	T	13: 98,925,869 (GRCm39)		probably null	Het
Fhdc1	G	A	3: 84,352,290 (GRCm39)	R197C	unknown	Het
Foxa2	T	A	2: 147,886,426 (GRCm39)	M136L	probably benign	Het
Gm10226	T	C	17: 21,910,866 (GRCm39)	C34R	possibly damaging	Het
Gm8947	T	C	1: 151,068,853 (GRCm39)	S229P	probably benign	Het
Ift56	C	T	6: 38,366,109 (GRCm39)		probably benign	Het
Ighv9-2	A	T	12: 114,072,896 (GRCm39)	S26T	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,420,190 (GRCm39)	I745M	probably damaging	Het
Klhdc1	T	C	12: 69,309,968 (GRCm39)	L290P	probably damaging	Het
Lcp2	C	T	11: 34,039,688 (GRCm39)	T496I		Het
Map4k4	T	C	1: 40,042,923 (GRCm39)	W593R	probably benign	Het
Mefv	T	G	16: 3,535,841 (GRCm39)	Q29P	probably damaging	Het
Mgat5b	T	C	11: 116,859,269 (GRCm39)	Y34H		Het
Mlip	C	T	9: 77,137,080 (GRCm39)	R609Q	probably benign	Het
Muc2	A	G	7: 141,290,816 (GRCm39)	D34G		Het
Nbeal1	C	T	1: 60,307,548 (GRCm39)	P1687S	possibly damaging	Het
Notch1	T	A	2: 26,369,895 (GRCm39)	I477L	probably damaging	Het
Odad2	T	A	18: 7,217,846 (GRCm39)	K623*	probably null	Het
Or1l4b	G	A	2: 37,037,047 (GRCm39)	M274I	probably benign	Het
Or1s2	T	C	19: 13,758,333 (GRCm39)	V117A	probably benign	Het
Or4a2	A	T	2: 89,248,712 (GRCm39)	L15Q	probably damaging	Het
Or51v8	T	A	7: 103,320,124 (GRCm39)	N38I	probably damaging	Het
Or6c214	A	G	10: 129,591,148 (GRCm39)	M57T	probably damaging	Het
Pak5	A	T	2: 135,958,688 (GRCm39)	S133R	probably damaging	Het
Pcyt1a	C	A	16: 32,285,332 (GRCm39)	D187E	probably benign	Het
Pdlim7	G	T	13: 55,655,354 (GRCm39)	T161K	probably damaging	Het
Phf8-ps	A	C	17: 33,286,701 (GRCm39)	C34G	probably damaging	Het
Pik3r4	A	G	9: 105,547,108 (GRCm39)	K962R	probably benign	Het
Pkd1l2	T	C	8: 117,759,433 (GRCm39)	K1516E	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ptchd3	A	T	11: 121,733,180 (GRCm39)	Y690F	probably benign	Het
Ptpn13	A	T	5: 103,649,735 (GRCm39)	R379S	possibly damaging	Het
Rbm27	C	T	18: 42,438,829 (GRCm39)	A410V	probably benign	Het
Rnase4	A	G	14: 51,342,662 (GRCm39)	T129A	probably benign	Het
Serpinb11	C	T	1: 107,304,533 (GRCm39)	T166I	probably benign	Het
Shank2	A	G	7: 143,963,705 (GRCm39)	T438A	possibly damaging	Het
Slc13a2	T	C	11: 78,295,258 (GRCm39)	N172D	probably damaging	Het
Slc2a8	A	G	2: 32,864,864 (GRCm39)	F428L	probably damaging	Het
Slc38a6	T	C	12: 73,398,544 (GRCm39)	M358T	probably benign	Het
Snx29	A	G	16: 11,213,155 (GRCm39)	H107R	probably benign	Het
Spint3	G	A	2: 164,415,154 (GRCm39)	A21V	probably benign	Het
Susd1	A	T	4: 59,412,226 (GRCm39)	V162E	probably benign	Het
Syne2	T	G	12: 75,977,834 (GRCm39)	N1426K	probably damaging	Het
Synj2	T	C	17: 6,067,875 (GRCm39)	V638A	possibly damaging	Het
Thada	A	T	17: 84,538,589 (GRCm39)	L1473Q	probably damaging	Het
Trim36	G	A	18: 46,300,580 (GRCm39)	S697L	possibly damaging	Het
Ttbk1	A	T	17: 46,781,517 (GRCm39)	I412N	possibly damaging	Het
Tubb2a	T	C	13: 34,258,578 (GRCm39)	D404G	probably damaging	Het
Tyk2	T	A	9: 21,035,841 (GRCm39)	N114Y	probably damaging	Het
Umodl1	A	G	17: 31,185,678 (GRCm39)	D139G	probably damaging	Het
Urb2	A	G	8: 124,750,192 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,810,244 (GRCm39)	N343K	probably benign	Het
Vnn1	A	G	10: 23,780,464 (GRCm39)	D484G	probably damaging	Het
Vps13b	A	G	15: 35,770,919 (GRCm39)	T2121A	probably benign	Het
Wdr81	T	C	11: 75,345,216 (GRCm39)	E17G	probably benign	Het
Wnk2	T	G	13: 49,224,505 (GRCm39)	K1117Q	probably benign	Het
Zbtb46	C	T	2: 181,066,138 (GRCm39)	R4Q	probably benign	Het
Zfp608	T	A	18: 55,032,190 (GRCm39)	K583N	probably damaging	Het
Zfp729b	A	T	13: 67,740,480 (GRCm39)	L595H	probably damaging	Het

Other mutations in Chrna4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Chrna4	APN	2	180,671,184 (GRCm39)	missense	probably benign	0.09
IGL00914:Chrna4	APN	2	180,670,824 (GRCm39)	missense	probably damaging	1.00
IGL01511:Chrna4	APN	2	180,670,461 (GRCm39)	missense	probably benign	0.13
IGL02517:Chrna4	APN	2	180,670,926 (GRCm39)	missense	probably benign	0.01
IGL02715:Chrna4	APN	2	180,671,374 (GRCm39)	unclassified	probably benign
R1168:Chrna4	UTSW	2	180,675,931 (GRCm39)	missense	possibly damaging	0.61
R1475:Chrna4	UTSW	2	180,671,172 (GRCm39)	missense	probably benign	0.44
R1572:Chrna4	UTSW	2	180,671,100 (GRCm39)	missense	possibly damaging	0.95
R4428:Chrna4	UTSW	2	180,670,413 (GRCm39)	missense	probably damaging	0.99
R4429:Chrna4	UTSW	2	180,670,413 (GRCm39)	missense	probably damaging	0.99
R4431:Chrna4	UTSW	2	180,670,413 (GRCm39)	missense	probably damaging	0.99
R4494:Chrna4	UTSW	2	180,670,281 (GRCm39)	missense	probably damaging	0.98
R4664:Chrna4	UTSW	2	180,679,286 (GRCm39)	missense	probably damaging	1.00
R4666:Chrna4	UTSW	2	180,679,286 (GRCm39)	missense	probably damaging	1.00
R4931:Chrna4	UTSW	2	180,670,665 (GRCm39)	missense	probably benign	0.00
R5144:Chrna4	UTSW	2	180,666,623 (GRCm39)	missense	probably damaging	1.00
R5556:Chrna4	UTSW	2	180,675,773 (GRCm39)	missense	possibly damaging	0.94
R5633:Chrna4	UTSW	2	180,671,253 (GRCm39)	missense	probably damaging	1.00
R5889:Chrna4	UTSW	2	180,670,451 (GRCm39)	missense	probably damaging	1.00
R6056:Chrna4	UTSW	2	180,671,235 (GRCm39)	missense	probably damaging	1.00
R6120:Chrna4	UTSW	2	180,666,599 (GRCm39)	missense	probably damaging	1.00
R7030:Chrna4	UTSW	2	180,671,334 (GRCm39)	missense	probably damaging	1.00
R7352:Chrna4	UTSW	2	180,679,267 (GRCm39)	missense	probably damaging	0.97
R7694:Chrna4	UTSW	2	180,660,386 (GRCm39)	missense
R7945:Chrna4	UTSW	2	180,670,454 (GRCm39)	missense	probably benign	0.04
R8075:Chrna4	UTSW	2	180,680,859 (GRCm39)	missense	unknown
R8706:Chrna4	UTSW	2	180,679,307 (GRCm39)	missense	probably damaging	1.00
R9091:Chrna4	UTSW	2	180,670,643 (GRCm39)	missense	possibly damaging	0.79
R9138:Chrna4	UTSW	2	180,670,775 (GRCm39)	missense	probably damaging	0.97
R9154:Chrna4	UTSW	2	180,670,602 (GRCm39)	missense	probably damaging	0.99
R9598:Chrna4	UTSW	2	180,679,264 (GRCm39)	missense	probably damaging	1.00
Z1177:Chrna4	UTSW	2	180,670,078 (GRCm39)	missense	possibly damaging	0.80
Z1177:Chrna4	UTSW	2	180,666,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGTCAGGGACCTTGTGG -3'
(R):5'- GCTCATCACCGAGATCATCC -3'

Sequencing Primer
(F):5'- ACCTTGTGGGAGGGTGACC -3'
(R):5'- GGCGAGTACCTGCTCTTCAC -3'

Posted On

2022-03-25