Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT1430001:Chrna2'

499917

Institutional Source

Beutler Lab

Gene Symbol

Chrna2

Ensembl Gene

ENSMUSG00000022041

Gene Name

cholinergic receptor nicotinic alpha 2 subunit

Synonyms

Acra-2, Acra2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT1430001 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

66372488-66390397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66387186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 444 (L444Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000178730] [ENSMUST00000206455]

AlphaFold

Q91X60

Predicted Effect

probably benign
Transcript: ENSMUST00000022620
AA Change: L444Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: L444Q

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	36	242	2.2e-81	PFAM
Pfam:Neur_chan_memb	249	503	5e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022622

SMART Domains

Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	870	1008	1.7e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089250

SMART Domains

Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	828	966	2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111121

SMART Domains

Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	866	1004	1.1e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136216

Predicted Effect

probably benign
Transcript: ENSMUST00000154865

SMART Domains

Protein: ENSMUSP00000122683
Gene: ENSMUSG00000059456

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	83	8.5e-27	PFAM
low complexity region	117	130	N/A	INTRINSIC
Pfam:Focal_AT	243	375	5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178730

SMART Domains

Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456

Domain	Start	End	E-Value	Type
B41	35	265	1.33e-45	SMART
TyrKc	425	679	1.46e-139	SMART
low complexity region	713	726	N/A	INTRINSIC
Pfam:Focal_AT	870	1002	2.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206455
AA Change: L444Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (136/137)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits 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. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,207,160 (GRCm39)	I524F	possibly damaging	Het
4930511M06Rik	T	C	18: 57,517,241 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,711 (GRCm39)	N361K	probably damaging	Het
Adgra2	A	G	8: 27,604,216 (GRCm39)	M469V	possibly damaging	Het
Akap9	A	G	5: 4,079,849 (GRCm39)	D1867G	probably damaging	Het
Ankrd17	T	C	5: 90,400,832 (GRCm39)	T1687A	possibly damaging	Het
Ap1m2	G	A	9: 21,209,548 (GRCm39)	P376L	probably damaging	Het
Bicc1	A	G	10: 70,793,511 (GRCm39)	S196P	possibly damaging	Het
Cacnb2	C	T	2: 14,976,412 (GRCm39)	R228*	probably null	Het
Ccdc43	A	G	11: 102,582,976 (GRCm39)	S83P	probably damaging	Het
Cdc42bpg	T	A	19: 6,372,582 (GRCm39)		probably null	Het
Cdh16	C	A	8: 105,344,271 (GRCm39)	M89I	probably benign	Het
Cecr2	A	C	6: 120,735,440 (GRCm39)	H892P	probably benign	Het
Chd5	T	A	4: 152,455,094 (GRCm39)	S859T	probably damaging	Het
Chrd	G	A	16: 20,557,748 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,630 (GRCm39)	S478P	probably damaging	Het
Cldn4	A	T	5: 134,975,514 (GRCm39)	M29K	possibly damaging	Het
Clpb	T	C	7: 101,435,926 (GRCm39)	V615A	possibly damaging	Het
Cyb5r4	G	A	9: 86,920,791 (GRCm39)	G142E	probably benign	Het
Cyp1a1	A	G	9: 57,608,194 (GRCm39)	Y274C	probably benign	Het
D2hgdh	T	C	1: 93,754,001 (GRCm39)		probably benign	Het
Dgkh	T	A	14: 78,818,953 (GRCm39)	E919V	probably damaging	Het
Dnah1	A	G	14: 30,984,537 (GRCm39)	Y3916H	probably damaging	Het
Dpp10	A	G	1: 123,268,911 (GRCm39)		probably benign	Het
Dync2i2	T	C	2: 29,922,147 (GRCm39)	Y438C	probably damaging	Het
Egfr	A	G	11: 16,860,214 (GRCm39)	T1043A	probably benign	Het
Elp5	T	G	11: 69,857,935 (GRCm39)		probably null	Het
Emilin3	A	T	2: 160,750,402 (GRCm39)	M449K	possibly damaging	Het
Epb41l4a	T	G	18: 33,930,400 (GRCm39)	T686P	probably damaging	Het
Eppk1	A	G	15: 76,105,236 (GRCm38)	C2482R	probably benign	Het
Eps8l3	T	C	3: 107,792,183 (GRCm39)	L370P	probably damaging	Het
Erbin	A	T	13: 103,996,017 (GRCm39)	S228R	probably damaging	Het
Fam149a	C	T	8: 45,804,743 (GRCm39)	E280K	probably benign	Het
Fam78b	T	C	1: 166,829,313 (GRCm39)	I60T	probably benign	Het
Fank1	A	T	7: 133,478,529 (GRCm39)	R197*	probably null	Het
Fbxo21	C	T	5: 118,115,931 (GRCm39)	S83F	possibly damaging	Het
Fbxo4	G	C	15: 4,008,782 (GRCm39)	T42R	probably benign	Het
Fhad1	C	G	4: 141,637,060 (GRCm39)	E1135D	probably damaging	Het
Fmo1	T	A	1: 162,657,622 (GRCm39)	E506D	probably benign	Het
Glipr1l2	A	T	10: 111,942,745 (GRCm39)	T231S	probably benign	Het
Gm11651	C	G	11: 105,863,917 (GRCm39)		probably benign	Het
Gm16043	A	G	6: 8,426,969 (GRCm39)		probably null	Het
Gm572	T	G	4: 148,755,850 (GRCm39)	W389G	unknown	Het
Gpc6	G	A	14: 118,188,594 (GRCm39)	W409*	probably null	Het
Gpr155	T	C	2: 73,200,482 (GRCm39)	T342A	probably benign	Het
Hcn4	A	C	9: 58,766,833 (GRCm39)	H798P	unknown	Het
Herc2	T	C	7: 55,876,702 (GRCm39)	S4513P	probably damaging	Het
Hmcn1	G	A	1: 150,684,488 (GRCm39)	R361C	probably benign	Het
Hoxa4	G	T	6: 52,168,199 (GRCm39)	P157Q	possibly damaging	Het
Ift122	A	C	6: 115,902,705 (GRCm39)		probably benign	Het
Igfbpl1	G	A	4: 45,826,756 (GRCm39)	S13L	unknown	Het
Igsf10	T	C	3: 59,235,579 (GRCm39)	D1534G	probably benign	Het
Il1rap	T	G	16: 26,529,343 (GRCm39)	L339V	possibly damaging	Het
Irf2bpl	C	T	12: 86,930,229 (GRCm39)	R148H	possibly damaging	Het
Ivns1abp	A	T	1: 151,237,356 (GRCm39)	R58W	probably damaging	Het
Kcnq5	C	T	1: 21,605,405 (GRCm39)	V167M	probably damaging	Het
Lrrcc1	G	A	3: 14,610,656 (GRCm39)	C337Y	probably damaging	Het
Lrriq3	A	G	3: 154,804,507 (GRCm39)	I56V	probably benign	Het
Masp1	C	A	16: 23,332,694 (GRCm39)	S47I	probably damaging	Het
Mcm7	A	T	5: 138,165,708 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,530,840 (GRCm39)	S210R	probably damaging	Het
Mical1	A	G	10: 41,359,492 (GRCm39)	R500G	possibly damaging	Het
Mtarc1	T	G	1: 184,539,246 (GRCm39)	T37P	probably benign	Het
Myc	A	C	15: 61,859,542 (GRCm39)	T73P	probably damaging	Het
Myh15	G	A	16: 49,017,254 (GRCm39)		probably null	Het
Myh4	A	G	11: 67,149,658 (GRCm39)	M1768V	probably benign	Het
Nap1l1	T	C	10: 111,322,597 (GRCm39)	Y66H	probably damaging	Het
Ncoa1	C	T	12: 4,373,005 (GRCm39)	R132K	probably benign	Het
Nfatc3	C	T	8: 106,786,605 (GRCm39)	S28F	possibly damaging	Het
Nhlrc3	T	A	3: 53,361,050 (GRCm39)	K235M	probably damaging	Het
Nrk	G	A	X: 137,879,463 (GRCm39)	E757K	probably damaging	Het
Obsl1	G	A	1: 75,482,811 (GRCm39)	P20S	probably damaging	Het
P2rx7	C	T	5: 122,819,279 (GRCm39)	A567V	probably damaging	Het
Pate9	A	T	9: 36,446,295 (GRCm39)	L39*	probably null	Het
Pcdhb15	G	A	18: 37,608,724 (GRCm39)	R652H	probably benign	Het
Pcdhga4	T	C	18: 37,819,267 (GRCm39)	V272A	probably benign	Het
Pcdhgb1	T	G	18: 37,814,472 (GRCm39)	V321G	probably damaging	Het
Pde2a	C	G	7: 101,100,684 (GRCm39)		probably benign	Het
Pdhb	C	T	14: 8,170,425 (GRCm38)	E109K	probably damaging	Het
Pkd1	C	A	17: 24,788,485 (GRCm39)	L748M	probably damaging	Het
Pkd2	A	T	5: 104,607,654 (GRCm39)	E51V	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Polr3gl	C	G	3: 96,488,228 (GRCm39)		probably benign	Het
Ppfia1	A	T	7: 144,052,073 (GRCm39)	L882Q	probably damaging	Het
Ppp4r3b	G	T	11: 29,159,434 (GRCm39)	R596L	probably benign	Het
Ppp6r3	G	A	19: 3,521,059 (GRCm39)	Q85*	probably null	Het
Prss8	A	G	7: 127,521,424 (GRCm39)		probably benign	Het
Qng1	T	A	13: 58,532,827 (GRCm39)	K48*	probably null	Het
Rab22a	A	G	2: 173,536,963 (GRCm39)	I87V	probably benign	Het
Rev1	A	C	1: 38,095,337 (GRCm39)		probably benign	Het
Rnase13	A	G	14: 52,159,987 (GRCm39)	Y51H	probably damaging	Het
Rnf26	T	C	9: 44,023,942 (GRCm39)	H102R	probably damaging	Het
Rnf5	T	C	17: 34,822,341 (GRCm39)	E36G	probably damaging	Het
Rplp1	T	G	9: 61,821,658 (GRCm39)	D18A	probably benign	Het
Rrs1	C	A	1: 9,616,150 (GRCm39)	D134E	probably damaging	Het
Sec14l1	A	G	11: 117,034,629 (GRCm39)	Y166C	probably damaging	Het
Sec14l2	A	T	11: 4,059,209 (GRCm39)	Y153*	probably null	Het
Senp1	A	G	15: 97,982,870 (GRCm39)	L39P	probably damaging	Het
Senp2	T	A	16: 21,832,864 (GRCm39)		probably benign	Het
Sh3bp1	G	A	15: 78,798,224 (GRCm39)	A19T	probably benign	Het
Sis	G	A	3: 72,830,162 (GRCm39)	P1130S	probably damaging	Het
Slc16a12	C	T	19: 34,654,759 (GRCm39)	A95T	possibly damaging	Het
Slc22a4	A	G	11: 53,918,783 (GRCm39)	V7A	probably benign	Het
Slc35c2	C	T	2: 165,119,452 (GRCm39)	S296N	probably benign	Het
Slf1	A	G	13: 77,198,169 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,859 (GRCm39)	V616E	possibly damaging	Het
Smarca2	T	A	19: 26,626,493 (GRCm39)	M439K	probably benign	Het
Snx29	G	A	16: 11,221,488 (GRCm39)	A305T	probably benign	Het
Socs5	C	T	17: 87,441,044 (GRCm39)		probably benign	Het
Spata31d1a	G	T	13: 59,849,010 (GRCm39)	H1039Q	probably benign	Het
Srgap1	G	A	10: 121,732,658 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,761,396 (GRCm39)	I650N	probably damaging	Het
Tac4	A	C	11: 95,158,190 (GRCm39)		probably benign	Het
Tbck	A	C	3: 132,428,487 (GRCm39)	T281P	probably benign	Het
Tbx22	T	C	X: 106,720,611 (GRCm39)	L62P	probably damaging	Het
Terf2	G	C	8: 107,822,934 (GRCm39)	R70G	probably damaging	Het
Tfdp1	C	T	8: 13,422,526 (GRCm39)	P138S	probably benign	Het
Tigd2	T	C	6: 59,188,233 (GRCm39)	Y367H	probably damaging	Het
Tmprss15	A	T	16: 78,821,640 (GRCm39)		probably null	Het
Tmprss6	C	T	15: 78,324,827 (GRCm39)	G741D	probably damaging	Het
Tnrc6b	A	C	15: 80,813,387 (GRCm39)	T1715P	probably damaging	Het
Tpcn1	T	C	5: 120,686,388 (GRCm39)		probably benign	Het
Trappc2l	T	C	8: 123,339,874 (GRCm39)	S35P	probably damaging	Het
Trim63	T	C	4: 134,048,484 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,074,454 (GRCm39)	D602E	probably damaging	Het
Trp53bp1	G	A	2: 121,101,756 (GRCm39)	P2S	probably damaging	Het
Tspan14	A	G	14: 40,637,488 (GRCm39)	L100P	probably damaging	Het
Tspan15	C	T	10: 62,023,899 (GRCm39)	E260K	probably damaging	Het
Ubxn10	T	C	4: 138,448,199 (GRCm39)	D159G	probably benign	Het
Unc5a	T	G	13: 55,151,709 (GRCm39)	V713G	probably damaging	Het
Usp16	C	T	16: 87,270,020 (GRCm39)	A324V	probably damaging	Het
Uvssa	G	A	5: 33,559,914 (GRCm39)	R422Q	possibly damaging	Het
Wipf1	A	C	2: 73,267,946 (GRCm39)	F151V	probably damaging	Het
Xpo1	A	T	11: 23,226,437 (GRCm39)	K104N	possibly damaging	Het
Ybx3	T	C	6: 131,356,422 (GRCm39)	T150A	probably damaging	Het
Yju2	C	T	17: 56,271,479 (GRCm39)		probably benign	Het
Zap70	T	A	1: 36,818,250 (GRCm39)	S312R	possibly damaging	Het
Zfp534	T	G	4: 147,759,880 (GRCm39)	K263T	probably benign	Het
Zfp534	T	G	4: 147,759,917 (GRCm39)	N251H	probably benign	Het

Other mutations in Chrna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Chrna2	APN	14	66,386,889 (GRCm39)	missense	probably benign	0.01
IGL03172:Chrna2	APN	14	66,379,688 (GRCm39)	missense	probably benign
IGL03268:Chrna2	APN	14	66,388,395 (GRCm39)	splice site	probably benign
IGL03344:Chrna2	APN	14	66,388,415 (GRCm39)	missense	probably damaging	0.99
intrepid	UTSW	14	66,383,902 (GRCm39)	missense	probably damaging	1.00
R0511:Chrna2	UTSW	14	66,386,553 (GRCm39)	missense	probably damaging	1.00
R0631:Chrna2	UTSW	14	66,386,757 (GRCm39)	missense	probably benign	0.45
R1205:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R1485:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R1487:Chrna2	UTSW	14	66,380,812 (GRCm39)	missense	probably benign	0.00
R1513:Chrna2	UTSW	14	66,380,878 (GRCm39)	missense	probably benign	0.13
R2023:Chrna2	UTSW	14	66,379,677 (GRCm39)	missense	probably benign	0.25
R2094:Chrna2	UTSW	14	66,386,912 (GRCm39)	missense	possibly damaging	0.65
R2964:Chrna2	UTSW	14	66,386,817 (GRCm39)	missense	possibly damaging	0.82
R2966:Chrna2	UTSW	14	66,386,817 (GRCm39)	missense	possibly damaging	0.82
R3118:Chrna2	UTSW	14	66,388,442 (GRCm39)	missense	probably damaging	0.98
R3931:Chrna2	UTSW	14	66,387,216 (GRCm39)	missense	probably benign	0.26
R3979:Chrna2	UTSW	14	66,386,402 (GRCm39)	missense	probably damaging	1.00
R3983:Chrna2	UTSW	14	66,386,906 (GRCm39)	missense	probably benign	0.00
R4080:Chrna2	UTSW	14	66,380,873 (GRCm39)	nonsense	probably null
R4080:Chrna2	UTSW	14	66,380,866 (GRCm39)	missense	probably benign	0.12
R4508:Chrna2	UTSW	14	66,383,902 (GRCm39)	missense	probably damaging	1.00
R4661:Chrna2	UTSW	14	66,386,292 (GRCm39)	missense	probably damaging	1.00
R4726:Chrna2	UTSW	14	66,386,345 (GRCm39)	missense	possibly damaging	0.85
R5349:Chrna2	UTSW	14	66,380,956 (GRCm39)	missense	probably damaging	0.99
R5787:Chrna2	UTSW	14	66,386,457 (GRCm39)	missense	probably benign	0.16
R6967:Chrna2	UTSW	14	66,388,398 (GRCm39)	critical splice acceptor site	probably null
R7218:Chrna2	UTSW	14	66,381,320 (GRCm39)	splice site	probably null
R7274:Chrna2	UTSW	14	66,386,675 (GRCm39)	missense	probably benign	0.03
R7565:Chrna2	UTSW	14	66,388,484 (GRCm39)	missense	probably benign
R7965:Chrna2	UTSW	14	66,388,525 (GRCm39)	makesense	probably null
R8337:Chrna2	UTSW	14	66,387,017 (GRCm39)	nonsense	probably null
R8955:Chrna2	UTSW	14	66,379,681 (GRCm39)	missense	probably benign	0.43
R9017:Chrna2	UTSW	14	66,386,282 (GRCm39)	missense	probably benign	0.40
Z1176:Chrna2	UTSW	14	66,386,753 (GRCm39)	missense	probably damaging	1.00
Z1177:Chrna2	UTSW	14	66,388,476 (GRCm39)	missense	probably null	1.00

Predicted Primers

Posted On

2017-11-21