Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Chrna3'

500795

Institutional Source

Beutler Lab

Gene Symbol

Chrna3

Ensembl Gene

ENSMUSG00000032303

Gene Name

cholinergic receptor, nicotinic, alpha polypeptide 3

Synonyms

Acra3, Acra-3, A730007P14Rik, (a)3, neuronal nicotinic acetylcholine receptor, alpha 3 subunit, alpha 3

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54917401-54933846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54923178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 210 (K210R)

Ref Sequence

ENSEMBL: ENSMUSP00000150636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034851] [ENSMUST00000214204]

AlphaFold

Q8R4G9

Predicted Effect

probably benign
Transcript: ENSMUST00000034851
AA Change: K210R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: K210R

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Neur_chan_LBD	34	240	6.1e-77	PFAM
Pfam:Neur_chan_memb	247	494	7.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214204
AA Change: K210R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.1310

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation show high postnatal and postweaning mortality. Mutants show reduced bladder contractility resulting in enlarged bladder, infections and urinary stones. Eyes are small, with dilated ocular pupils. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,983,472 (GRCm39)	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,942,793 (GRCm39)	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,705,075 (GRCm39)	I1578M	probably damaging	Het
Afg3l1	G	A	8: 124,227,972 (GRCm39)	G547D	probably damaging	Het
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,716,465 (GRCm39)		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Bcl7b	A	G	5: 135,209,767 (GRCm39)	T141A	probably benign	Het
Calm5	T	A	13: 3,904,337 (GRCm39)	N10K	probably damaging	Het
Camsap1	T	C	2: 25,828,356 (GRCm39)	R1123G	probably damaging	Het
Cfap97d1	C	T	11: 101,879,278 (GRCm39)	Q17*	probably null	Het
Ciz1	A	G	2: 32,257,495 (GRCm39)	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,888,813 (GRCm39)	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,732,341 (GRCm39)	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,953,567 (GRCm39)	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,503,379 (GRCm39)	R424Q	probably null	Het
D1Pas1	C	A	1: 186,700,294 (GRCm39)	S74R	probably benign	Het
Ddx4	T	A	13: 112,748,516 (GRCm39)	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,268 (GRCm39)	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,316,281 (GRCm39)	D330G	possibly damaging	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eeig1	G	A	2: 32,456,304 (GRCm39)	S322N	probably benign	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam111a	T	C	19: 12,564,914 (GRCm39)	L221P	possibly damaging	Het
Fat1	T	C	8: 45,406,306 (GRCm39)	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,674,830 (GRCm39)	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,833,014 (GRCm39)	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295 (GRCm39)	M271I	probably benign	Het
Herc1	C	T	9: 66,352,922 (GRCm39)	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,233,135 (GRCm39)	F1866S	probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,110,481 (GRCm39)	F537I	probably benign	Het
Itpr2	T	C	6: 146,284,198 (GRCm39)	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,695,733 (GRCm39)	K22E	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lars1	T	C	18: 42,345,667 (GRCm39)	E1003G	probably benign	Het
Layn	T	A	9: 50,970,844 (GRCm39)	N233I	probably damaging	Het
Ldhb-ps	T	G	19: 21,915,616 (GRCm39)		noncoding transcript	Het
Lgi1	T	C	19: 38,294,694 (GRCm39)	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,588,557 (GRCm39)	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 79,996,638 (GRCm39)		probably benign	Het
Lsamp	T	A	16: 41,964,935 (GRCm39)	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,290,457 (GRCm39)	E39G	probably damaging	Het
Mtx2	C	A	2: 74,677,606 (GRCm39)	A22E	probably damaging	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nlrp14	A	T	7: 106,781,574 (GRCm39)	Y257F	probably benign	Het
Ola1	G	C	2: 72,987,204 (GRCm39)	R143G	probably damaging	Het
Or14c44	T	G	7: 86,061,841 (GRCm39)	I90M	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Oxr1	T	C	15: 41,712,097 (GRCm39)	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh18	T	C	3: 49,709,240 (GRCm39)	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,797,176 (GRCm39)	T727A	probably benign	Het
Pde9a	A	G	17: 31,667,401 (GRCm39)	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,763,716 (GRCm39)	E37G	probably damaging	Het
Rlf	C	T	4: 121,005,521 (GRCm39)	G1153D	probably benign	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,276,258 (GRCm39)		probably benign	Het
Siah2	A	G	3: 58,583,671 (GRCm39)	V205A	probably damaging	Het
Spindoc	A	C	19: 7,351,666 (GRCm39)	L202R	probably damaging	Het
Spock3	T	A	8: 63,798,733 (GRCm39)	D251E	probably damaging	Het
Srp68	T	A	11: 116,164,782 (GRCm39)	K51*	probably null	Het
Ssbp2	T	C	13: 91,672,726 (GRCm39)	Y29H	probably damaging	Het
Sspo	T	C	6: 48,426,864 (GRCm39)	V231A	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tecta	C	T	9: 42,303,402 (GRCm39)	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,692,708 (GRCm39)	D761E	probably benign	Het
Tubb2a	T	C	13: 34,259,247 (GRCm39)	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,676,957 (GRCm39)	N4756K	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Wapl	G	A	14: 34,458,721 (GRCm39)	V928I	probably damaging	Het
Zfand3	A	G	17: 30,411,630 (GRCm39)	K130R	probably benign	Het
Zfp934	A	T	13: 62,665,599 (GRCm39)	H347Q	probably damaging	Het

Other mutations in Chrna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02469:Chrna3	APN	9	54,923,290 (GRCm39)	missense	probably benign	0.01
IGL02484:Chrna3	APN	9	54,922,821 (GRCm39)	missense	probably damaging	1.00
R0494:Chrna3	UTSW	9	54,929,562 (GRCm39)	missense	probably damaging	1.00
R0538:Chrna3	UTSW	9	54,923,290 (GRCm39)	missense	probably benign	0.01
R0557:Chrna3	UTSW	9	54,923,149 (GRCm39)	missense	probably damaging	1.00
R0674:Chrna3	UTSW	9	54,922,456 (GRCm39)	missense	probably damaging	1.00
R1552:Chrna3	UTSW	9	54,923,192 (GRCm39)	missense	probably benign	0.16
R1750:Chrna3	UTSW	9	54,923,341 (GRCm39)	missense	probably damaging	1.00
R2191:Chrna3	UTSW	9	54,923,329 (GRCm39)	missense	probably damaging	1.00
R2989:Chrna3	UTSW	9	54,923,334 (GRCm39)	missense	probably damaging	1.00
R3114:Chrna3	UTSW	9	54,923,334 (GRCm39)	missense	probably damaging	1.00
R3153:Chrna3	UTSW	9	54,923,334 (GRCm39)	missense	probably damaging	1.00
R3154:Chrna3	UTSW	9	54,923,334 (GRCm39)	missense	probably damaging	1.00
R3434:Chrna3	UTSW	9	54,931,610 (GRCm39)	missense	possibly damaging	0.95
R3732:Chrna3	UTSW	9	54,923,178 (GRCm39)	missense	probably benign	0.00
R3733:Chrna3	UTSW	9	54,923,178 (GRCm39)	missense	probably benign	0.00
R4758:Chrna3	UTSW	9	54,929,560 (GRCm39)	missense	probably damaging	1.00
R4903:Chrna3	UTSW	9	54,922,810 (GRCm39)	missense	probably benign	0.01
R5430:Chrna3	UTSW	9	54,920,192 (GRCm39)	missense	probably damaging	0.98
R5795:Chrna3	UTSW	9	54,922,552 (GRCm39)	missense	probably benign	0.17
R6546:Chrna3	UTSW	9	54,923,185 (GRCm39)	missense	probably damaging	1.00
R6806:Chrna3	UTSW	9	54,923,094 (GRCm39)	missense	probably damaging	1.00
R7516:Chrna3	UTSW	9	54,922,653 (GRCm39)	missense	probably benign	0.00
R7703:Chrna3	UTSW	9	54,923,408 (GRCm39)	missense	probably benign	0.00
R8053:Chrna3	UTSW	9	54,922,674 (GRCm39)	missense	probably benign	0.25
R8762:Chrna3	UTSW	9	54,922,995 (GRCm39)	missense	probably damaging	1.00
R9170:Chrna3	UTSW	9	54,933,671 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2017-12-01