Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Chrna2'

686095

Institutional Source

Beutler Lab

Gene Symbol

Chrna2

Ensembl Gene

ENSMUSG00000022041

Gene Name

cholinergic receptor nicotinic alpha 2 subunit

Synonyms

Acra-2, Acra2

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66372488-66390397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66386282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 143 (F143L)

Ref Sequence

ENSEMBL: ENSMUSP00000022620 (fasta)

Gene Model

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

AlphaFold

Q91X60

Predicted Effect

probably benign
Transcript: ENSMUST00000022620
AA Change: F143L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: F143L

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: 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: F143L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dennd4c	A	G	4: 86,743,349 (GRCm39)	S1064G	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Kremen2	T	A	17: 23,964,737 (GRCm39)		probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Mrps17	T	C	5: 129,793,857 (GRCm39)	V17A	probably damaging	Het
Muc20	A	T	16: 32,614,840 (GRCm39)	L179Q	unknown	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or13p8	T	A	4: 118,583,565 (GRCm39)	F40L	probably benign	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prepl	C	T	17: 85,376,366 (GRCm39)	V563M	possibly damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	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
PIT1430001:Chrna2	UTSW	14	66,387,186 (GRCm39)	missense	probably benign	0.01
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
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

PCR Primer
(F):5'- AGATACGTCTGTCTGTAGGAGAG -3'
(R):5'- CGTTGATAATGGCCCACTCG -3'

Sequencing Primer
(F):5'- AGGAGAGATTTATCTTGCCCTTGC -3'
(R):5'- CAGTAGTCCTTCAGGTCCACCG -3'

Posted On

2021-10-11