Mutagenetix > Incidental Mutation

Incidental Mutation 'R9170:Chrna3'

696356

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

Accession Numbers

Essential gene?

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

Stock #

R9170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54917401-54933846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54933671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 8 (V8D)

Ref Sequence

ENSEMBL: ENSMUSP00000034851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034851] [ENSMUST00000034854] [ENSMUST00000214204]

AlphaFold

Q8R4G9

Predicted Effect

unknown
Transcript: ENSMUST00000034851
AA Change: V8D

SMART Domains

Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: V8D

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: ENSMUST00000034854

SMART Domains

Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	26	231	3.2e-70	PFAM
Pfam:Neur_chan_memb	238	481	6.1e-88	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000214204
AA Change: V8D

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,516 (GRCm39)	K702E	probably benign	Het
Agbl1	T	C	7: 75,985,069 (GRCm39)	I162T		Het
Agpat2	A	T	2: 26,487,230 (GRCm39)	I101N	possibly damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Arhgap32	G	A	9: 32,162,039 (GRCm39)	R330H	possibly damaging	Het
Asb4	T	A	6: 5,390,775 (GRCm39)	I56N	probably benign	Het
Atp2a2	C	T	5: 122,604,087 (GRCm39)	V449M	possibly damaging	Het
Bend4	A	G	5: 67,575,080 (GRCm39)	L267P	probably damaging	Het
Catspere2	T	A	1: 177,967,949 (GRCm39)	N745K	probably benign	Het
Celf2	A	G	2: 6,554,646 (GRCm39)	F484L	possibly damaging	Het
Chd3	T	C	11: 69,241,648 (GRCm39)	D1495G	possibly damaging	Het
Cog3	T	C	14: 75,966,802 (GRCm39)	Y466C	probably damaging	Het
Col5a1	A	G	2: 27,841,363 (GRCm39)	E328G	unknown	Het
Col7a1	A	G	9: 108,785,707 (GRCm39)	Y392C	unknown	Het
Crtc3	A	T	7: 80,248,697 (GRCm39)	N255K	probably damaging	Het
Dnaaf1	T	C	8: 120,302,195 (GRCm39)	I32T	probably benign	Het
Dner	A	T	1: 84,512,647 (GRCm39)	C307S	probably damaging	Het
Dzip3	T	C	16: 48,772,401 (GRCm39)	K423E	possibly damaging	Het
Eif2b4	A	G	5: 31,345,393 (GRCm39)	S414P	probably damaging	Het
Elp4	T	C	2: 105,624,891 (GRCm39)	E334G	probably damaging	Het
Emilin2	T	A	17: 71,587,689 (GRCm39)	N141I	probably benign	Het
Fstl1	T	A	16: 37,647,140 (GRCm39)	V170E	probably damaging	Het
Fxn	A	G	19: 24,244,687 (GRCm39)	I151T	probably damaging	Het
Gtf3c4	A	T	2: 28,730,214 (GRCm39)	V9E	possibly damaging	Het
Ino80d	A	G	1: 63,132,607 (GRCm39)	S19P	probably damaging	Het
Kank3	T	G	17: 34,037,242 (GRCm39)	L370R	probably damaging	Het
Large1	T	A	8: 73,542,645 (GRCm39)	Y693F	probably benign	Het
Lig4	C	A	8: 10,022,202 (GRCm39)	W526L	probably damaging	Het
Mib1	C	T	18: 10,726,437 (GRCm39)	P45S	probably benign	Het
Ndufaf6	T	C	4: 11,070,301 (GRCm39)	K107E	probably benign	Het
Nf1	T	C	11: 79,436,291 (GRCm39)	L1977P	probably damaging	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or52s6	G	A	7: 103,091,850 (GRCm39)	P160L	probably damaging	Het
Or52z15	T	A	7: 103,332,404 (GRCm39)	F160I	probably benign	Het
Pappa	G	A	4: 65,258,962 (GRCm39)	R1570Q	probably damaging	Het
Parp6	G	A	9: 59,531,213 (GRCm39)	A32T		Het
Pclo	A	G	5: 14,731,068 (GRCm39)	Q64R		Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,341,600 (GRCm39)	S10P	possibly damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prf1	A	C	10: 61,136,216 (GRCm39)	D164A	probably damaging	Het
Rarres1	A	G	3: 67,386,924 (GRCm39)	V226A	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,948,375 (GRCm39)	L106P	probably damaging	Het
Scnn1b	A	T	7: 121,511,326 (GRCm39)	T338S	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc9a5	T	C	8: 106,080,139 (GRCm39)	V94A	probably damaging	Het
Slco4a1	A	G	2: 180,106,478 (GRCm39)	D220G	probably benign	Het
Spata31e2	T	A	1: 26,723,485 (GRCm39)	Q565L	possibly damaging	Het
Sult1c2	T	C	17: 54,269,200 (GRCm39)	D272G	possibly damaging	Het
Tgm1	T	C	14: 55,946,355 (GRCm39)	N427S	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tnni3	A	T	7: 4,521,376 (GRCm39)	F209L	probably damaging	Het
Ttn	T	A	2: 76,745,912 (GRCm39)	S5046C	probably damaging	Het
Tubb2a	T	A	13: 34,260,628 (GRCm39)	I24L	probably benign	Het
Uevld	C	A	7: 46,587,746 (GRCm39)	G318V	probably damaging	Het
Unkl	T	C	17: 25,448,350 (GRCm39)	S308P	probably benign	Het
Vmn1r159	C	A	7: 22,542,765 (GRCm39)	C89F	probably damaging	Het
Wee2	T	G	6: 40,437,977 (GRCm39)	S302A	probably benign	Het
Ydjc	T	C	16: 16,965,666 (GRCm39)	C144R	probably benign	Het
Zc3h12c	A	G	9: 52,027,419 (GRCm39)	S667P	probably benign	Het
Zfp280b	T	A	10: 75,874,651 (GRCm39)	Y177N	probably benign	Het
Zfp354b	C	T	11: 50,814,362 (GRCm39)	E188K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTCAAAGTCGTGCGGAAAAC -3'
(R):5'- GGTTTCAAGAGTCCAGGGAG -3'

Sequencing Primer
(F):5'- TGCGGAAAACAGAGCCCTG -3'
(R):5'- CATCGACGCAGAAGACCGTG -3'

Posted On

2022-02-07