Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Chrna2'

58006

Institutional Source

Beutler Lab

Gene Symbol

Chrna2

Ensembl Gene

ENSMUSG00000022041

Gene Name

cholinergic receptor nicotinic alpha 2 subunit

Synonyms

Acra-2, Acra2

MMRRC Submission

038820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66372488-66390397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66386757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 301 (V301G)

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: V301G

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: V301G

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: V301G

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.8414

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,982,479 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,904,517 (GRCm39)	E594G	probably benign	Het
Ak8	T	G	2: 28,625,677 (GRCm39)	I240S	probably damaging	Het
Akap13	T	C	7: 75,264,744 (GRCm39)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,017,095 (GRCm39)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,831,697 (GRCm39)	I36F	probably damaging	Het
Antxrl	T	A	14: 33,780,758 (GRCm39)		probably null	Het
Arhgef2	G	C	3: 88,541,743 (GRCm39)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,416,481 (GRCm39)	I1098T	unknown	Het
Atr	T	C	9: 95,756,830 (GRCm39)	V903A	possibly damaging	Het
B3gnt6	C	A	7: 97,842,899 (GRCm39)	A354S	probably benign	Het
Bnc1	A	T	7: 81,624,114 (GRCm39)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,823,659 (GRCm39)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,274,331 (GRCm39)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,443,752 (GRCm39)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,012,384 (GRCm39)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,627,914 (GRCm39)		probably null	Het
Cd177	T	C	7: 24,456,111 (GRCm39)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,538,667 (GRCm39)	Y497*	probably null	Het
Chmp2a	T	C	7: 12,766,371 (GRCm39)	E107G	probably damaging	Het
Chrna7	A	G	7: 62,749,391 (GRCm39)	C364R	probably benign	Het
Cltc	G	T	11: 86,603,439 (GRCm39)	L796I	probably benign	Het
Col12a1	T	C	9: 79,610,658 (GRCm39)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,723,129 (GRCm39)	Q270*	probably null	Het
Col6a1	C	T	10: 76,545,569 (GRCm39)	V968M	probably benign	Het
Copb1	C	A	7: 113,832,517 (GRCm39)	V511F	probably benign	Het
Daw1	C	G	1: 83,174,981 (GRCm39)	S160R	probably damaging	Het
Ddx46	A	G	13: 55,787,590 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,552,332 (GRCm39)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 130,699,383 (GRCm39)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,280,152 (GRCm39)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Edc4	C	A	8: 106,617,424 (GRCm39)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,726,278 (GRCm39)	K129M	probably damaging	Het
Emx2	A	G	19: 59,452,460 (GRCm39)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,896,449 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,394,400 (GRCm39)	K507E	probably benign	Het
Fanci	T	A	7: 79,055,953 (GRCm39)	V195E	probably damaging	Het
Fgfr2	T	G	7: 129,828,969 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,890,402 (GRCm39)	S1007P	probably damaging	Het
Fry	T	C	5: 150,419,817 (GRCm39)	I993T	possibly damaging	Het
Fst	A	G	13: 114,591,038 (GRCm39)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,009 (GRCm39)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Gja3	T	C	14: 57,274,219 (GRCm39)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,161,313 (GRCm39)	D74G	unknown	Het
Gm12689	G	T	4: 99,184,258 (GRCm39)	G37V	unknown	Het
Gm5424	C	T	10: 61,907,313 (GRCm39)		noncoding transcript	Het
Hephl1	T	C	9: 14,995,820 (GRCm39)	E434G	probably benign	Het
Hoatz	T	A	9: 51,013,253 (GRCm39)	R6S	probably benign	Het
Htatip2	T	C	7: 49,423,059 (GRCm39)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,936,161 (GRCm39)		probably null	Het
Ints2	T	C	11: 86,124,022 (GRCm39)	I589V	probably benign	Het
Itgae	T	A	11: 73,005,733 (GRCm39)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,559,852 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,401,565 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,932,364 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,128,667 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,144,883 (GRCm39)	T406A	probably benign	Het
Litaf	A	T	16: 10,784,276 (GRCm39)		probably benign	Het
Lmntd1	T	A	6: 145,375,726 (GRCm39)	I71F	probably benign	Het
Lrit3	A	C	3: 129,582,204 (GRCm39)	C594W	probably damaging	Het
Lrp6	T	A	6: 134,456,738 (GRCm39)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,605,179 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,349,317 (GRCm39)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,437,684 (GRCm39)	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,378,006 (GRCm39)	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,829,634 (GRCm39)		probably benign	Het
Mgat4b	T	C	11: 50,121,590 (GRCm39)	S69P	probably damaging	Het
Mki67	A	T	7: 135,306,117 (GRCm39)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,128,852 (GRCm39)	T201I	probably damaging	Het
Msh4	G	C	3: 153,572,057 (GRCm39)	D774E	probably benign	Het
Myg1	C	T	15: 102,240,284 (GRCm39)	R37C	probably benign	Het
Myrf	C	A	19: 10,206,246 (GRCm39)	A57S	probably benign	Het
Ndst1	G	A	18: 60,833,431 (GRCm39)		probably benign	Het
Nedd4l	A	T	18: 65,341,574 (GRCm39)		probably benign	Het
Neil2	T	A	14: 63,420,849 (GRCm39)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,432,035 (GRCm39)	D26V	probably benign	Het
Nt5c	A	G	11: 115,381,540 (GRCm39)		probably null	Het
Or13a24	T	G	7: 140,154,420 (GRCm39)	M118R	probably damaging	Het
Or2w1b	G	T	13: 21,300,078 (GRCm39)	C72F	probably damaging	Het
Or2z8	T	A	8: 72,812,166 (GRCm39)	I214N	probably damaging	Het
Or5ac20	A	G	16: 59,104,570 (GRCm39)	C97R	possibly damaging	Het
Or5t15	T	C	2: 86,681,311 (GRCm39)	T244A	probably benign	Het
Ovch2	A	G	7: 107,381,228 (GRCm39)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,255,202 (GRCm39)	S262P	probably benign	Het
Pla2g6	T	A	15: 79,190,596 (GRCm39)	H322L	probably damaging	Het
Plch1	A	T	3: 63,606,640 (GRCm39)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 106,105,934 (GRCm39)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,196,876 (GRCm39)	D747G	possibly damaging	Het
Poln	C	A	5: 34,276,302 (GRCm39)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,173,873 (GRCm39)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 55,114,073 (GRCm39)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,894,165 (GRCm39)	P135S	probably benign	Het
Ptgs2	G	A	1: 149,980,288 (GRCm39)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,415,200 (GRCm39)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm39)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,276,138 (GRCm39)	I84T	probably damaging	Het
Rab44	A	G	17: 29,358,118 (GRCm39)	D102G	possibly damaging	Het
Rimoc1	A	G	15: 4,015,971 (GRCm39)		probably benign	Het
Rnf125	A	T	18: 21,112,140 (GRCm39)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,450,851 (GRCm39)	F392L	probably damaging	Het
Rttn	A	G	18: 89,007,670 (GRCm39)	N435S	probably benign	Het
Scn8a	A	G	15: 100,933,418 (GRCm39)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,432,989 (GRCm39)		probably benign	Het
Sgsm3	A	T	15: 80,895,937 (GRCm39)	*751C	probably null	Het
Slc35c2	A	C	2: 165,122,849 (GRCm39)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,570,280 (GRCm39)		probably benign	Het
Snapc3	T	A	4: 83,336,039 (GRCm39)	V17D	probably damaging	Het
Snta1	G	T	2: 154,218,992 (GRCm39)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,790,014 (GRCm39)	D1334G	probably benign	Het
Stard5	A	G	7: 83,281,965 (GRCm39)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,660,102 (GRCm39)	N731I	probably benign	Het
Tmem135	T	A	7: 88,792,996 (GRCm39)	K413*	probably null	Het
Tmem38a	G	A	8: 73,333,862 (GRCm39)	V114I	probably benign	Het
Tpr	A	G	1: 150,298,282 (GRCm39)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,540,066 (GRCm39)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Tuba3b	A	G	6: 145,565,302 (GRCm39)	T257A	probably damaging	Het
Tubgcp6	A	C	15: 88,985,190 (GRCm39)	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,804,644 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm39)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 85,812,478 (GRCm39)	S514C	probably null	Het
Whrn	G	A	4: 63,337,726 (GRCm39)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 58,095,097 (GRCm39)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm39)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,487,083 (GRCm39)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,263,872 (GRCm39)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 123,063,613 (GRCm39)		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
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
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

PCR Primer
(F):5'- AGCAAGAAGTACGACTGCTGCG -3'
(R):5'- TCAGACCTCAGGTGGTCAGCAATG -3'

Sequencing Primer
(F):5'- GGCTGCCGCTGTTCTAC -3'
(R):5'- tcttcttcctcctcctcctc -3'

Posted On

2013-07-11